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  • Articles  (1,255)
  • Mutation
  • Research Support as Topic
  • 2000-2004  (1,112)
  • 1980-1984  (100)
  • 1975-1979  (43)
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  • Articles  (1,255)
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  • 1
    Electronic Resource
    Electronic Resource
    Codon usage in muscle genes and liver genes (1983)
    Springer
    Journal of molecular evolution 19 (1983), S. 214-218 
    Details
    ISSN: 1432-1432
    Keywords: Codon: anticodon adaptation ; Mutation ; Selection
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary Synonymous codon usage frequencies, derived from cDNA clone sequences, were compared for several sets of vertebrate genes. Gene sets as diverse as those expressed in avian skeletal muscle and in mammalian liver showed similar patterns of synonymous codon usage. There were no significant differences suggesting tissue-specific co-adaptation of codon usage patterns and tRNA anticodon profiles. The results indicate a consensus codon usage pattern for vertebrate genes which is largely independent of taxonomic class, tissue of expression, and the cellular fate and rate of evolution of the encoded proteins. Certain elements of the consensus codon usage pattern indicate that it is the product of natural selection and not simply a mutational equilibrium among phenotypically equivalent synonyms.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02099968
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  • 2
    Electronic Resource
    Electronic Resource
    Mutation L210W of HIV-1 reverse transcriptase in patients receiving combination therapy (2000)
    Springer
    Journal of biomedical science 7 (2000), S. 507-513 
    Details
    ISSN: 1423-0127
    Keywords: AIDS ; Resistance ; Mutation ; Genotype ; Zidovudine ; Fitness
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Mutation L210W of HIV-1 reverse transcriptase (RT) is one of the six main mutations that confer in vivo resistance to zidovudine. Surprisingly, this mutation has received scant appraisal and its contribution to the genotypic resistance to nucleoside analogs is not well understood. The aim of this study was: (1) to study the frequency of mutation L210W in a large collection of HIV-1 sequences (2,049 samples, including 395 DNA and 1,654 RNA sequences) from patients receiving combination therapy, and (2) to analyze its association with the other mutations that confer resistance to zidovudine. A mutation at codon 210 (mainly L210W) was found in 647 (32%) of the 2,049 sequences analyzed. Only 43 (〈7%) of these 647 genomes were also mutated at codon 70 (p 〈 10−5). In contrast, 98% of these 647 sequences were also mutated at codon 215 (essentially T215Y/F), and 94% at codon 41 (mainly M41L). These data showing a close association between L210W, T215Y/F, and M41L, and a mutual exclusion between K70R and L210W, were confirmed by analyzing the sequences stored in the HIV-1 sequences available through the Stanford HIV RT and Protease Database. Follow-up studies demonstrated that L210W appeared always after T215Y/F. This observation is consistent with crystallographic studies which suggested that the aromatic side chain of Trp 210 could stabilize the interaction of Phe/Tyr215 with the dNTP-binding pocket. This molecular cross-talk between amino acid chains occurs nearby the conserved Asp113 residue. Since the lateral chain of Arg70 may also interact with Asp113, this is likely to create a sterical hindrance around this residue. Thus, the R→K reversion of codon 70 may represent a compensatory mechanism allowing a functional rearrangement of the dNTP-binding pocket in the mutated RT.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02253366
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  • 3
    Electronic Resource
    Electronic Resource
    A novel HLA-A*6816 allele possibly generated by a point mutation in a Chilean from Punta Arenas (Magellan Strait) (2000)
    Springer
    Immunogenetics 51 (2000), S. 257-260 
    Details
    ISSN: 1432-1211
    Keywords: Key words Amerindians ; Chileans ; HLA-A*6816 ; Mutation ; Gene conversion
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002510050618
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  • 4
    Electronic Resource
    Electronic Resource
    Variation of mutation and recombination frequencies over a range of thymidylate concentrations in a diploid thymidylate auxotroph (1983)
    Springer
    Current genetics 7 (1983), S. 399-402 
    Details
    ISSN: 1432-0983
    Keywords: Thymidylate auxotrophy ; Mutation ; Recombination
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary A diploid yeast thymidylate auxotroph was grown under conditions of thymidylate stress ranging from depletion to excess levels of the nucleotide. High concentrations of thymidylate were mutagenic and recombinagenic whereas starvation for thymine nucleotides was recombinagenic and only slightly mutagenic. These results are discussed in relation to possible mutagenic and recombinagenic mechanisms of nucleotide pool imbalances.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00445881
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  • 5
    Electronic Resource
    Electronic Resource
    Some ring-trap mutants of the fungusDactylella brochopaga drechsler (1978)
    Springer
    Archives of microbiology 117 (1978), S. 221-226 
    Details
    ISSN: 1432-072X
    Keywords: Nematophagous fungus ; Giant functional traps ; Mutation ; Development
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Mutagenesis with nitrosoguanidine yielded two classes of ring trap mutants in the predacious HyphomyceteDactylella brochopaga: strains which could make no traps and those with a proportion of giant, functional traps. A third strain, derived from a trapless strain made abnormally small functional traps. The giant traps are described, together with developmental abnormalities they sometimes display. The characteristics of the chief mutant strains are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00738539
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  • 6
    Electronic Resource
    Electronic Resource
    Spontaneous pigment mutants of Anacystis nidulans selected by growth under far-red light (1980)
    Springer
    Archives of microbiology 124 (1980), S. 143-148 
    Details
    ISSN: 1432-072X
    Keywords: Anacystis ; Blue-green algae ; Cyanobacteria ; Mutation ; Pigments ; Red light ; Synecaococcus
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Under far-red (〉650 nm) illumination Anacystis nidulans grows poorly and develops a low chlorophyll content. During continued culture over many generations there are increases in growth rate and in the chlorophyll/phycocyanin ratio, usually occurring in concomitant and stepwise fashion. From such selection cultures six clones have been established which differ from the parent in pigment content and show improved growth rate in far-red light. From the evidence at hand the six clones are presumed to be spontaneous mutants selected under the photosynthetically restrictive condition of far-red illumination.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00427719
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  • 7
    Electronic Resource
    Electronic Resource
    Isolation of gas vacuole-less mutants of the blue-green alga Anabaenopsis raciborskii (1976)
    Springer
    Archives of microbiology 111 (1976), S. 195-196 
    Details
    ISSN: 1432-072X
    Keywords: Mutation ; Blue-green alga ; Anabaenopsis raciborskii ; Gas vacuole ; Nitrogen fixation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract From a bloom forming blue-green alga, Anabaenopsis raciborskii, spontaneous mutants, which had lost the ability to form gas vacuoles have been isolated; the mutant frequency was 4.8×10-3. The filaments of gas vacuole-less mutants settled at the bottom of flasks in liquid culture media unlike the parent alga. The growth and nitrogen fixation were comparatively poor in the mutants.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00446569
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  • 8
    Electronic Resource
    Electronic Resource
    On the survival probability of a slightly advantageous mutant gene with a general distribution of progeny size—A branching process model (1981)
    Springer
    Journal of mathematical biology 12 (1981), S. 355-362 
    Details
    ISSN: 1432-1416
    Keywords: Branching process ; Mutation ; Extinction ; Progeny size
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Mathematics
    Notes: Abstract A branching process method is employed to study the survival probability of a slightly advantageous mutant gene with a general distribution of progeny size in a large population. A counter-example to a classic proposition is given. A somewhat weaker result is proved.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00276922
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  • 9
    Electronic Resource
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    Migration and mutation in stochastic models of gene frequency change. II. Stochastic migration with a finite number of islands (1981)
    Springer
    Journal of mathematical biology 13 (1981), S. 95-104 
    Details
    ISSN: 1432-1416
    Keywords: Stochastic migration ; Island model ; Mutation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Mathematics
    Notes: Abstract Recurrence relations are derived for stochastic migration in the island model with a finite number of subpopulations. Two models are considered, one involving a constant probability that each individual breeding in a given colony has migrated from another, the other assuming the exchange of fixed numbers of migrants between colonies each generation. The equilibrium solutions are expressed in terms of two measures of genetic differentiation among subpopulations, one similar to Nei's measure of genetic distance, and the other closely related to the coefficient of kinship. Both measures are shown to be necessary for a complete description of population structure. The predictions of the models of stochastic migration are compared with the corresponding classical model of deterministic migration.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00276868
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  • 10
    Electronic Resource
    Electronic Resource
    Increasing grain protein content of hard red winter wheat (Triticum aestivum L.) by mutation breeding (1983)
    Springer
    Theoretical and applied genetics 65 (1983), S. 41-46 
    Details
    ISSN: 1432-2242
    Keywords: Triticum aestivum ; Wheat ; Protein ; Mutation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary Poor adaptability or functional quality of much germplasm used for breeding high-protein hard red winter wheats prompted mutagenesis as an alternative means of increasing grain protein content. Four hard red winter wheat genotypes — KS644 (‘Triumph// Concho/Triumph’), ‘Kaw’, ‘Parker’, and ‘Shawnee’ — were treated with 0.40 M ethyl methanesulfonate (EMS). Advanced lines (M8-M10) were selected that had a 3-year mean grain protein advantage of 0.7% to 2.0% over controls. Increased grain protein content was generally associated with decreased grain yield and kernel weight, but some high-protein mutant lines had yields or kernel weights similar to those of original genotypes. Changes in height and lodging induced by EMS were generally favorable, most mutants being shorter and lodging less than controls, but blooming date was generally delayed, a deleterious change. One line also changed from resistant to segregating for wheat soil-borne mosaic virus. Mutant lines might be utilized in cross-breeding programs, particularly if negative pleiotropic effects and linkages are absent.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00276260
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  • 11
    Electronic Resource
    Electronic Resource
    Sequential occurrence of mutations in a growing rice callus (1983)
    Springer
    Theoretical and applied genetics 65 (1983), S. 225-230 
    Details
    ISSN: 1432-2242
    Keywords: Tissue culture ; Mutation ; Sequential mutations ; Rice ; Oryza sativa L.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary Four mutations for early heading, albina, short culm and sterility were obtained in the progenies of twelve rice plants regenerated from a single callus of a rice seed. Studies on the segregation rates of these mutations revealed that for each mutation a single recessive gene was likely to be involved and that there was no linkage among the genes. The segregation pattern also showed that these mutations were induced in the following sequence: early heading, albina, and short culm and sterility during the stage of callus growth until the beginning of the regeneration of the rice plants.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00308073
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  • 12
    Electronic Resource
    Electronic Resource
    Population genetics in the American Tropics XVI. Data on partial dominance of recessives in Drosophila willistoni (1982)
    Springer
    Theoretical and applied genetics 61 (1982), S. 183-191 
    Details
    ISSN: 1432-2242
    Keywords: Mutation ; Normalizing-selection ; Lethal-equivalence ; Genetic-load ; Neutral-theory
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary Through a series of genetic load studies made on 1) samples of Drosophila willistoni from two sites in Mesitas, Colombia, it was found that the relative contributions to the total, subvital and lethal loads reflect lethal equivalences (B/A) ratios which support more the balancing theory of population structure than the neutralist theory. Moreover, measurements of population size have revealed the existance of very small demes in local populations. Under such conditions we have calculated extremely small lethal equivalence ratios in demes where probably a great deal of consanguinity takes place. We are aware that under these conditions B/A ratios cannot be very good monitors of random load measurements and, therefore, suggest a change in the mathematical formulation that take into consideration the existance of small populations. Furthermore, it appears plausible that the degree of penetrance in the heterozygous condition changes as the population structure changes. We speculate that natural populations may have unknown selective mechanisms capable of guiding unknown dominance modifiers according to the intensity of selection.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273888
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  • 13
    Electronic Resource
    Electronic Resource
    Mutation-selection equilibrium as a possible cause of an interchange chromosome polymorphism in a cultivar of rye, Secale cereale L. (1982)
    Springer
    Theoretical and applied genetics 62 (1982), S. 321-324 
    Details
    ISSN: 1432-2242
    Keywords: Interchange ; Chromosome polymorphism ; Mutation ; Selection ; Equilibrium ; Rye
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary A persistent chromosomal polymorphism exists in a population of cultivated rye, Secale cereale (Candela et al. 1979). In order to ascertain the possible causes that maintain it, we have estimated the fitness values of structurally homozygous and heterozygous plants and the mutation rate of spontaneous interchange. The estimates of the selection coefficient against heterozygotes (s=0.15-0.40) and of the mutation rate u=6.12×10−2 support a mutation-selection equilibrium as a likely cause of the interchange chromosome polymorphism.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00275095
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  • 14
    Electronic Resource
    Electronic Resource
    Myo-inositol induced growth in ethyl methanesulphonate treated tobacco (1984)
    Springer
    Theoretical and applied genetics 67 (1984), S. 203-205 
    Details
    ISSN: 1432-2242
    Keywords: Ethyl methanesulphonate ; Mutation ; Myo-inositol ; Nicotiana tabacum, tobacco
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary Tobacco seeds treated with ethyl methanesulphonate produces mutations as well as physiological growth debility. The addition of myo-inositol to seeds undergoing mutagenic treatment stimulated growth and increased survival of subsequent plants with negligible effect on the mutation frequency.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00317035
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  • 15
    Electronic Resource
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    Investigations of the seed protein content of several pea genotypes grown in two different years (1978)
    Springer
    Theoretical and applied genetics 53 (1978), S. 181-190 
    Details
    ISSN: 1432-2242
    Keywords: Pisum sativum ; Seed protein content ; Mutation ; Genotype-year-interaction
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary Seventeen X-ray and neutron induced mutants of the commercial variety ‘Dippes gelbe Victoria’ were analyzed with regard to their seed protein percentage. The interaction of genotypic and year effects in 1975 (normal weather conditions) and 1976 (extremely hot and dry) was also taken into consideration. To avoid undiscoverable environmental bias, the plants were grown in a nonstandard three-dimensional layout. Biometric analysis was done by using the theory of the general linear model with a formula-processing computer program. In the first year, significant genetically caused differences were found in the material. The bifurcated mutant 157A was especially of considerable interest because an improved protein content was combined with relative good yield. In the second year, no significant differences between the mutants were revealed, but all genotypes showed a similar good protein value of about 27%.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273578
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  • 16
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    On the Mutation Rates of the Mitochondrial and Nuclear Genomes of Salmonid Fishes (2000)
    Springer
    Russian journal of marine biology 26 (2000), S. 432-438 
    Details
    ISSN: 1608-3377
    Keywords: Mutation ; phylogeny ; nuclear DNA ; mitochondrial DNA ; salmonid fishes ; divergence time
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Mutation rates of the mitochondrial and nuclear genomes of salmonid fishes were assessed on the basis of a phylogenetic study of 12 species representing four genera of the family Salmonidae. Analysis of the extent of divergence of the masu salmon Oncorhynchus masou and the Pacific trout Parasalmo suggests a high rate of mtDNA mutation in the masu salmon. However, the nuclear genome in this species has mutated relatively slowly. For the other 5 species of Pacific salmon, no discrepancy was found in the mutation rates of mitochondrial and nuclear DNA. Values of the absolute time of divergence of taxa, calculated for the two independently inherited parts of the salmonid genome, were approximately within the same range and coincided with those based on evolutionary hypotheses [1, 21].
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1009450906139
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  • 17
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    Genetic characterization of the 44D-45B region of the Drosophila melanogaster genome based on an F2 lethal screen (2000)
    Springer
    Molecular genetics and genomics 263 (2000), S. 137-143 
    Details
    ISSN: 1617-4623
    Keywords: Key wordsDrosophila ; Cytogenetic region 44D-45B ; EMS mutagenesis ; Mutation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract We have performed an F2 genetic screen to identify lethal mutations that map to the 44D-45B region of the Drosophila melanogaster genome. By screening 8500 mutagenized chromosomes for lethality over Df(2R)Np3, a deficiency which encompasses nearly 1% of the D. melanogaster euchromatic genome, we recovered 125 lines with lethal mutations that represent 38 complementation groups. The lethal mutations have been mapped to deficiencies that span the 44D-45B region, producing an approximate map position for each complementation group. Lethal mutations were analyzed to determine the phase of development at which lethality occurred. In addition, we have linked some of the complementation groups to P element-induced lethals that map to 44D-45B, thus possibly providing new alleles of a previously tagged gene. Some of the complementation groups represent potentially novel alleles of previously identified genes that map to the region. Several genes have been mapped by molecular means to the 44D-45B region, but do not have any reported mutant alleles. This screen may have uncovered mutant alleles of these genes. The results of complementation tests with previously identified genes in 44D-45B suggests that over half of the complementation groups identified in this screen may be novel.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004380050040
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  • 18
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    Modification of symbiotic interaction of pea (Pisum sativum L.) andRhizobium leguminosarum by induced mutations (1984)
    Springer
    Plant and soil 82 (1984), S. 427-438 
    Details
    ISSN: 1573-5036
    Keywords: Mutant ; Mutation ; Nitrate ; Nitrate reductase ; Nodulation ; Pisum sativum L. ; Rhizobium leguminosarum
    Source: Springer Online Journal Archives 1860-2000
    Topics: Agriculture, Forestry, Horticulture, Fishery, Domestic Science, Nutrition
    Notes: Summary In pea (Pisum sativum L.), mutants could be induced, modified in the symbiotic interaction withRhizobium leguminosarum. Among 250 M2-families, two nodulation resistant mutants (K5 and K9) were obtained. In mutant K5 the nodulation resistance was monogenic recessive and not Rhizobium strain specific. Out of 220 M2-families one mutant nod3 was found which could form nodules at high nitrate concentrations (15 mM KNO3). This mutant nodulated abundantly with severalRhizobium strains, both in the absence and presence of nitrate. Probably as the result of a pleiotropic effect, its root morphology was also changed. Among 1800 M2-families, five nitrate reductase deficient mutants were obtained and one of them (mutant E1) was used to study the inhibitory effect of nitrate on nodulation and nitrogen fixation. The results of the present investigation show that pea mutants which are modified in their symbiosis withRhizobium leguminosarum, can readily be obtained. The significance of such mutants for fundamental studies of the legume-Rhizobium symbiosis and for applications in plant breeding is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02184280
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  • 19
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    Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome (2000)
    Springer
    Journal of human genetics 45 (2000), S. 115-118 
    Details
    ISSN: 1435-232X
    Keywords: Key words Marfan syndrome ; FBN1 ; Fibrillin-1 ; Japanese ; Mutation ; Gene
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Marfan syndrome (MFS; MIM #154700) is a connective tissue disorder characterized by cardiovascular, skeletal, and ocular abnormalities. The fibrillin-1 gene (FBN1; MIM no. 134797) on chromosome 15 was revealed to be the cause of Marfan syndrome. To date over 137 types of FBN1 mutations have been reported. In this study, two novel mutations and a recurrent de-novo mutation were identified in patients with MFS by means of single-strand conformational polymorphism (SSCP) analysis. The two novel mutations are a 4-bp deletion at nucleotide 2820-2823 and a G-to-T transversion at nucleotide 1421 (C474F), located on exon 23 and exon 11, respectively. A previously reported mutation at the splicing donor site of intron 2 (IVS2 G + 1A), which is predicted to cause exon skipping, was identified in a sporadic patient with classical MFS.
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    URL: http://dx.doi.org/10.1007/s100380050027
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  • 20
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    Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia (2000)
    Springer
    Journal of human genetics 45 (2000), S. 159-166 
    Details
    ISSN: 1435-232X
    Keywords: Key words Fanconi anemia ; Mutation ; the FANCA gene ; the FANCC gene ; the FANCG gene ; Alternative splicing
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Fanconi anemia (FA), an autosomal recessive disorder characterized by a progressive pancytopenia associated with congenital anomalies and high predisposition to malignancies, is a genetically and clinically heterogeneous disease. At least eight complementation groups (FA-A to FA-H) have been identified. Previously, we studied mutations of the FANCA gene, responsible for FA-A, and found pathogenic mutations in 12 of 15 unclassified Japanese FA patients. Here, we further studied an additional 5 FA patients for sequence alterations of the FANCA gene and found pathogenic mutations in 2 of them. We further analyzed mutations of the FANCC and FANCG genes, responsible for FA-C and FA-G, respectively, in the remaining 6 FA patients. Although there was no alterations in the FANCC gene in these 6 patients, two novel mutations of the FANCG gene, causing aberrant RNA splicing, were detected in 2 FA patients. One was a base substitution from G to C of the invariant GT dinucleotides at the splice donor site of intron 3, resulting in the skipping of exon 3, as well as the skipping of exons 3 and 4. The other was a base substitution from C to T in exon 8, creating a nonsense codon (Q356X). This mutation resulted in the exclusion of a sequence of 18 nucleotides containing the mutation from the mRNA, without affecting the splicing potential of either the authentic or the cryptic splice donor site. Collectively, 14 of the 20 unclassified Japanese FA patients belong to the FA-A group, 2 belong to the FA-G group, and none belongs to the FA-C group.
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    URL: http://dx.doi.org/10.1007/s100380050203
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  • 21
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    Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population (2000)
    Springer
    Journal of human genetics 45 (2000), S. 315-317 
    Details
    ISSN: 1435-232X
    Keywords: Key words Menkes disease ; ATP7A gene ; MNK gene ; Mutation ; Polymorphism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Menkes disease is an X-linked recessive disorder of the copper membrane transport system caused by mutations in the ATP7A gene. While various mutations in the ATP7A gene have been reported, a genotype-phenotype correlation has not been clearly defined. A novel mutation in the ATP7A gene in a Japanese patient with classical Menkes disease was identified via analysis of reverse-transcriptase polymerase chain reaction products and genomic DNA of the ATP7A gene. The nonsense mutation, L718X, was found to result in premature termination and immature ATP7A protein, unlikely to have normal functioning. Therefore, this nonsense mutation of the ATP7A gene is proposed to play a causative role in presenting the classical Menkes phenotype. Furthermore, four novel polymorphisms, C1535T (L464L), C2151T (T669I), G2253A (R703H), and C3677T (H1178Y) were also identified.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380070024
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  • 22
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    Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations (2000)
    Springer
    Journal of human genetics 45 (2000), S. 358-362 
    Details
    ISSN: 1435-232X
    Keywords: Key words Holocarboxylase synthetase ; Multiple carboxylase deficiency ; Biotin ; Mutation ; Microsatellite markers ; Haplotype
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Holocarboxylase synthetase (HCS) deficiency is a rare autosomal recessive disorder of biotin metabolism. Including three new Japanese patients we diagnosed in this study, ten Japanese families have, so far, been accumulated. In these families, the mutations 237Leu 〉 Pro (sevenalleles) and 1067delG (five alleles) were predominant; 508Arg 〉 Trp and 550Val 〉 Met mutations were identified in three families in the heterozygous form and in one patient in the homozygous form, respectively. To determine the origin of these mutations, we identified new polymorphic microsatellite markers in the HCS gene and analyzed the haplotypes of the patients. All the 237Leu 〉 Pro and the 1067delG alleles were associated with haplotype 2-2. This finding is consistent with the notion that these mutations are founder mutations in the Japanese population. Three Japanese 508Arg 〉 Trp alleles were associated with several haplotypes, including 2-3 and 1-4. The haplotype of a Taiwanese patient homozygous for the 508Arg 〉 Trp mutation was 2-3/2-3. The haplotype of one Japanese patient homozygous for the 550Val 〉 Met mutation was 1-4/1-4, whereas that of a Jewish patient with the same homozygous mutation was 2-3/2-3. Both mutations were associated with at least two haplotypes and were found in several ethnic groups. The changes 508Arg 〉 Trp and 550Val 〉 Met occurred at CpG dinucleotide. The data suggest that these two mutations represent a mutational hot-spot.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380070008
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    Electronic Resource
    Electronic Resource
    A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient (2000)
    Springer
    Journal of human genetics 45 (2000), S. 84-85 
    Details
    ISSN: 1435-232X
    Keywords: Key words Hot spot ; Mutation ; Neurofibromatosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We report a case of neurofibromatosis (NF) 1 presenting as a C-to-T transition changing an Arg-1947 codon to a stop codon. Because this mutation has been described in multiple Caucasian and Japanese families, the codon CGA for Arg-1947 in the NF1 gene is considered to be a hotspot for mutation in neurofibromatosis type 1 in all ethnic groups.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380050016
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    Electronic Resource
    Electronic Resource
    Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia (2000)
    Springer
    Journal of human genetics 45 (2000), S. 197-199 
    Details
    ISSN: 1435-232X
    Keywords: Key words Glycogen storage disease type Ia ; Glucose-6-phosphatase ; Mutation ; Chinese ; Taiwan
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Glycogen storage disease type Ia (GSD Ia) is caused by a deficiency of glucose-6-phosphatase (G6Pase) activity. Eighteen GSD Ia families were studied for G6Pase gene mutations. Thirty-two mutations were found in 36 GSD Ia chromosomes: 16 were 727 G→T (44.44%); 13 were R83H (327 G→T; 36.11%); 1 was 341delG; 1 was 933insAA; and 1 was 793 G→T. The 727 G→T and R83H mutations together accounted for 80.56% (29/36) of the GSD Ia chromosomes. These two mutations were easily examined by polymerase chain reaction-based methods, and the prenatal diagnosis of a non-affected fetus was successfully made. The 727 G→T mutation is the predominant mutation in Japanese GSD Ia patients, but is rarely seen in Western counties. The 727 G→T mutation is also the most prevalent mutation in Taiwan Chinese, although the incidence is not as high as in Japan.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380070026
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    Electronic Resource
    Electronic Resource
    Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome (2000)
    Springer
    Journal of human genetics 45 (2000), S. 231-236 
    Details
    ISSN: 1435-232X
    Keywords: Key words Rett syndrome ; Mental retardation ; MECP2 gene ; Methyl-CpG-binding protein ; X chromosome dominant ; Mutation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Rett syndrome is a neurodevelopmental disorder observed almost exclusively in girls, and is characterized by autistic tendency, severe mental retardation, stereotyped hand movements, seizures, and acquired microcephaly. Recently, the MECP2 (methyl-CpG-binding protein 2) gene, mapped on chromosome Xq28, was reported to be responsible for Rett syndrome. We performed mutational analysis of the MECP2 gene in 26 Japanese patients with Rett syndrome (who were sporadic cases), and identified disease alleles in 19 patients. The mutations consisted of 12 different types including 3 missense, 3 nonsense, and 6 frameshift mutations. Of these, 8 mutations are novel. Most of these mutations affect the functional domains, methyl-CpG binding domain (MBD), and transcriptional repression domain (TRD), and therefore may critically affect the function of MeCP2. The disease phenotype of patients with mutations in the MBD tended to be more severe than the phenotype of those with mutations in the TRD. We also identified 2 types of silent mutations and 4 types of missense mutations as benign variants, and these are all novel ones. Most of the nucleotide substitutions involve C → T transitions at CpG hotspots. The novel disease alleles and benign variants of the MECP2 gene found in this study should contribute to the establishment of a reliable diagnosis of Rett syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380070032
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    Electronic Resource
    Electronic Resource
    Novel mutations of the ATP7B gene in Japanese patients with Wilson disease (2000)
    Springer
    Journal of human genetics 45 (2000), S. 86-91 
    Details
    ISSN: 1435-232X
    Keywords: Key words Wilson disease ; ATP7B gene ; Mutation ; Polymorphism ; Japanese
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Wilson disease (WD) is an autosomal recessive disorder characterized by copper accumulation in the liver, brain, kidneys, and corneas, and culminating in copper toxication in these organs. In this study, we analyzed mutations of the responsible gene, ATP7B, in four Japanese patients with WD. By direct sequencing, we identified five mutations, of which two were novel, and 16 polymorphisms, of which 6 were novel. The mutations 2871delC and 2513delA shift the reading frame so that truncated abnormal protein is expected. In contrast to these mutations found in patients with hepatic-type of early onset, the mutations A874V, R778L, and 3892delGTC were either missense mutations or inframe 1-amino acid deletion, and occurred in the patients with hepato-neurologic type of late onset. The mutations 2871delC and R778L have been previously reported in a relatively large number of Japanese patients. In particular, R778L is known to be more prevalent in Asian countries than in other countries of the world. Our data are compatible with the hypothesis that the mutations tend to occur in a population-specific manner. Therefore, the accumulation of the types of mutations in Japanese patients with WD will facilitate the fast and effective genetic diagnosis of WD in Japanese patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380050017
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    Electronic Resource
    Electronic Resource
    A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiency (2000)
    Springer
    Journal of human genetics 45 (2000), S. 102-104 
    Details
    ISSN: 1435-232X
    Keywords: Key words PEPD ; Prolidase deficiency ; Mutation ; Polymorphism ; Nonsense mutation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A nonsense mutation at amino acid residue 184 in the human peptidase D (PEPD) gene caused the production of a truncated polypeptide. Characterizing molecular defects in patients provides clues to elucidate the relationship between the phenotype and the genotype.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380050023
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    Electronic Resource
    Electronic Resource
    A novel interstitial deletion of KAL1 in a Japanese family with Kallmann syndrome (2000)
    Springer
    Journal of human genetics 45 (2000), S. 237-240 
    Details
    ISSN: 1435-232X
    Keywords: Key words Kallmann syndrome ; KAL1 ; Mutation ; Anosmia ; Hypogonadism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We identified a novel interstitial deletion that spanned from exons 5 to 10 of KAL1 in two Japanese brothers with X-linked Kallmann syndrome (KS; MIM no. 308700). Both brothers had hypogonadism, unilateral renal agenesis, and disturbance of the sense of smell, but they had no other neurological manifestations, including mental disturbance. Their mother was confirmed to be an asymptomatic carrier, by use of a comparative multiplex polymerase chain reaction (PCR) analysis. The present patients are further examples of patients with KS without mental disturbance caused by a mutation confined to KAL1.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380070033
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    Electronic Resource
    Electronic Resource
    The BRCA2 genetic variant IVS7 + 2T → G is a mutation (2000)
    Springer
    Journal of human genetics 45 (2000), S. 351-357 
    Details
    ISSN: 1435-232X
    Keywords: Key wordsBRCA2 ; RNA ; Splice ; Mutation ; Intron ; Cancer
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Biochemical and genetic characterizations that support the conclusion that the variant BRCA2 IVS7 + 2T → G represents a deleterious mutation are presented. RNA analysis from a breast cancer patient with BRCA2 IVS7 + 2T → G showed that the productive message was produced from only one chromosome. A haplotype analysis confirmed that the intronic variant resides on the chromosome that does not produce the normal mRNA. Additionally, an RNA splicing product that deletes exon 7 was produced by the chromosome that carries BRCA2 IVS7 + 2T → G. The deletion of exon 7 from the RNA alters the open reading frame by removing residues 249–287 and incorporating 18 abnormal amino acids before terminating with an opal stop codon. The experimental approach presented produces strong evidence of the presence of a deleterious mutation, because the contribution by both chromosomes to each RNA species analyzed was tracked using a coding region polymorphism as a marker. Furthermore, a single nucleotide polymorphism (SNP) haplotype analysis that confirms the location of the intronic variant and an associated family history that shows a high incidence of cancer supported these biochemical data.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380070007
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    Electronic Resource
    Electronic Resource
    A novel type X collagen gene mutation (G595R) associated with Schmid-type metaphyseal chondrodysplasia (2000)
    Springer
    Journal of human genetics 45 (2000), S. 105-108 
    Details
    ISSN: 1435-232X
    Keywords: Key words Metaphyseal chondrodysplasia Schmid type (MCDS) ; Mutation ; Type X collagen gene (COL10A1) ; Carboxyl-terminal noncollagenous (NC1) domain ; Spondylometaphyseal dysplasia (SMD) ; Type X collagenopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Metaphyseal chondrodysplasia of the Schmid type (MCDS) is a skeletal dysplasia affecting the long bone metaphyses; it is characterized by short stature, bowlegs, and coxa vara. The spine is generally not involved. Here we report a novel missense mutation of the type X collagen gene in a sporadic case of MCDS. The mutation was a heterozygous single base-pair transition of G-to-A at nucleotide 1783, which predicted a substitution of glycine by arginine at codon 595 (G595R) in the carboxyl-terminal noncollagenous domain. Interestingly, another mutation of the same codon, in which glycine is substituted by glutamic acid (G595E), was previously reported to cause spondylometaphyseal dysplasia (SMD), another group of skeletal dysplasias with involvement of the spine in addition to the long tubular bones. The novel G595R mutation identified in the present study supports the concept of type X collagenopathy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380050024
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    Lab v. field: the case for studying real-life bugs (2002)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2002-10-05
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Enserink, Martin -- New York, N.Y. -- Science. 2002 Oct 4;298(5591):92-3.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12364779" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; *Animals, Genetically Modified ; *Anopheles/genetics/parasitology/physiology ; Behavior, Animal ; Biological Evolution ; *Culicidae/genetics/parasitology/physiology ; Ecology ; Genetics, Population ; Genome ; Humans ; *Insect Vectors/genetics/parasitology/physiology ; Malaria/prevention & control/transmission ; Molecular Biology ; Mosquito Control ; Plasmodium/physiology ; *Research ; Research Support as Topic ; Sequence Analysis, DNA ; Sexual Behavior, Animal
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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    Genomic instability in mice lacking histone H2AX (2002)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2002-04-06
    Description: Higher order chromatin structure presents a barrier to the recognition and repair of DNA damage. Double-strand breaks (DSBs) induce histone H2AX phosphorylation, which is associated with the recruitment of repair factors to damaged DNA. To help clarify the physiological role of H2AX, we targeted H2AX in mice. Although H2AX is not essential for irradiation-induced cell-cycle checkpoints, H2AX-/- mice were radiation sensitive, growth retarded, and immune deficient, and mutant males were infertile. These pleiotropic phenotypes were associated with chromosomal instability, repair defects, and impaired recruitment of Nbs1, 53bp1, and Brca1, but not Rad51, to irradiation-induced foci. Thus, H2AX is critical for facilitating the assembly of specific DNA-repair complexes on damaged DNA.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4721576/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4721576/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Celeste, Arkady -- Petersen, Simone -- Romanienko, Peter J -- Fernandez-Capetillo, Oscar -- Chen, Hua Tang -- Sedelnikova, Olga A -- Reina-San-Martin, Bernardo -- Coppola, Vincenzo -- Meffre, Eric -- Difilippantonio, Michael J -- Redon, Christophe -- Pilch, Duane R -- Olaru, Alexandru -- Eckhaus, Michael -- Camerini-Otero, R Daniel -- Tessarollo, Lino -- Livak, Ferenc -- Manova, Katia -- Bonner, William M -- Nussenzweig, Michel C -- Nussenzweig, Andre -- Z99 CA999999/Intramural NIH HHS/ -- New York, N.Y. -- Science. 2002 May 3;296(5569):922-7. Epub 2002 Apr 4.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Experimental Immunology Branch, National Cancer Institute, NIH, Bethesda, MD 20892, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11934988" target="_blank"〉PubMed〈/a〉
    Keywords: Amino Acid Sequence ; Animals ; B-Lymphocytes/immunology/physiology ; Base Sequence ; Cell Aging ; Cell Cycle ; Cells, Cultured ; *Chromosome Aberrations ; DNA Damage ; *DNA Repair ; Female ; Gene Targeting ; Histones/chemistry/*genetics/*physiology ; Immunoglobulin Class Switching ; Infertility, Male/genetics/physiopathology ; Lymphocyte Count ; Male ; Meiosis ; Mice ; Mice, Knockout ; Molecular Sequence Data ; Mutation ; Phosphorylation ; *Recombination, Genetic ; Spermatocytes/physiology ; T-Lymphocytes/immunology/physiology
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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    Genomics. Gene duplication and evolution (2002)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2002-08-10
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Lynch, Michael -- New York, N.Y. -- Science. 2002 Aug 9;297(5583):945-7.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Biology, Indiana University, Bloomington, IN 47405, USA. mlynch@bio.indiana.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12169715" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; *Biological Evolution ; Caenorhabditis elegans/genetics ; Chromosomes/genetics ; Chromosomes, Human/genetics ; *Gene Duplication ; Gene Rearrangement ; Gene Silencing ; *Genes, Duplicate ; *Genome, Human ; Genomics ; Humans ; Mutation ; Selection, Genetic
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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    Visualization and functional analysis of RNA-dependent RNA polymerase lattices (2002)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2002-06-22
    Description: Positive-strand RNA viruses such as poliovirus replicate their genomes on intracellular membranes of their eukaryotic hosts. Electron microscopy has revealed that purified poliovirus RNA-dependent RNA polymerase forms planar and tubular oligomeric arrays. The structural integrity of these arrays correlates with cooperative RNA binding and RNA elongation and is sensitive to mutations that disrupt intermolecular contacts predicted by the polymerase structure. Membranous vesicles isolated from poliovirus-infected cells contain structures consistent with the presence of two-dimensional polymerase arrays on their surfaces during infection. Therefore, host cytoplasmic membranes may function as physical foundations for two-dimensional polymerase arrays, conferring the advantages of surface catalysis to viral RNA replication.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Lyle, John M -- Bullitt, Esther -- Bienz, Kurt -- Kirkegaard, Karla -- AI-42119/AI/NIAID NIH HHS/ -- New York, N.Y. -- Science. 2002 Jun 21;296(5576):2218-22.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Microbiology and Immunology, Stanford University School of Medicine, Stanford, CA 94305, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12077417" target="_blank"〉PubMed〈/a〉
    Keywords: Base Sequence ; Binding Sites ; Catalysis ; Crystallography, X-Ray ; HeLa Cells ; Humans ; Hydrogen-Ion Concentration ; Inclusion Bodies, Viral/metabolism/ultrastructure ; Microscopy, Electron ; Models, Molecular ; Molecular Sequence Data ; Mutation ; Nucleic Acid Conformation ; Poliovirus/*enzymology/physiology ; Protein Conformation ; Protein Structure, Quaternary ; Protein Structure, Tertiary ; RNA Replicase/*chemistry/isolation & purification/*metabolism/ultrastructure ; RNA, Viral/biosynthesis/*metabolism ; Viral Core Proteins/metabolism ; Virus Replication
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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    Planetary science. NASA's new road to faster, cheaper, better exploration (2002)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2002-11-16
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Kerr, Richard A -- New York, N.Y. -- Science. 2002 Nov 15;298(5597):1320-2.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12434031" target="_blank"〉PubMed〈/a〉
    Keywords: Humans ; *Planets ; Research Personnel ; Research Support as Topic ; Solar System ; Space Flight/*economics/*organization & administration/trends ; Spacecraft ; United States ; United States National Aeronautics and Space ; Administration/*economics/*organization & administration/trends
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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    Enhanced and delayed stress-induced alcohol drinking in mice lacking functional CRH1 receptors (2002)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2002-05-04
    Description: There is a relation between stress and alcohol drinking. We show that the corticotropin-releasing hormone (CRH) system that mediates endocrine and behavioral responses to stress plays a role in the control of long-term alcohol drinking. In mice lacking a functional CRH1 receptor, stress leads to enhanced and progressively increasing alcohol intake. The effect of repeated stress on alcohol drinking behavior appeared with a delay and persisted throughout life. It was associated with an up-regulation of the N-methyl-d-aspartate receptor subunit NR2B. Alterations in the CRH1 receptor gene and adaptional changes in NR2B subunits may constitute a genetic risk factor for stress-induced alcohol drinking and alcoholism.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Sillaber, Inge -- Rammes, Gerhard -- Zimmermann, Stephan -- Mahal, Beatrice -- Zieglgansberger, Walter -- Wurst, Wolfgang -- Holsboer, Florian -- Spanagel, Rainer -- New York, N.Y. -- Science. 2002 May 3;296(5569):931-3.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Max Planck Institute of Psychiatry, Kraepelinstrasse 2-10, 80804 Munich, Germany. sillaber@mpipsykl.mpg.de〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11988580" target="_blank"〉PubMed〈/a〉
    Keywords: Action Potentials ; *Alcohol Drinking ; Alcoholism/*etiology/genetics ; Animals ; Brain/metabolism ; Corticotropin-Releasing Hormone/physiology ; Ethanol/blood ; Female ; Hippocampus/physiology ; In Vitro Techniques ; Male ; Mice ; Mice, Knockout ; Models, Animal ; Mutation ; Receptors, AMPA/metabolism ; Receptors, Corticotropin-Releasing Hormone/*genetics/*physiology ; Receptors, Kainic Acid/metabolism ; Receptors, N-Methyl-D-Aspartate/*metabolism ; Signal Transduction ; Stress, Physiological/physiopathology ; Stress, Psychological/*physiopathology ; Up-Regulation
    Print ISSN: 0036-8075
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    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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    Plant genetics. A hidden Arabidopsis emerges under stress (2002)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2002-05-23
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Marshall, Eliot -- New York, N.Y. -- Science. 2002 May 17;296(5571):1218.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12016281" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Arabidopsis/anatomy & histology/*genetics/growth & development/*physiology ; Arabidopsis Proteins/genetics/*physiology ; Biological Evolution ; Drosophila/anatomy & histology/genetics/growth & development/physiology ; Drosophila Proteins/genetics/physiology ; Genes, Insect ; Genes, Plant ; HSP90 Heat-Shock Proteins/genetics/*physiology ; Mutation ; Plant Leaves/anatomy & histology
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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    Systemic RNAi in C. elegans requires the putative transmembrane protein SID-1 (2002)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2002-02-09
    Description: Double-stranded RNA-mediated gene interference (RNAi) in Caenorhabditis elegans systemically inhibits gene expression throughout the organism. To investigate how gene-specific silencing information is transmitted between cells, we constructed a strain that permits visualization of systemic RNAi. We used this strain to identify systemic RNA interference-deficient (sid) loci required to spread gene-silencing information between tissues but not to initiate or maintain an RNAi response. One of these loci, sid-1, encodes a conserved protein with predicted transmembrane domains. SID-1 is expressed in cells sensitive to RNAi, is localized to the cell periphery, and is required cell-autonomously for systemic RNAi.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Winston, William M -- Molodowitch, Christina -- Hunter, Craig P -- New York, N.Y. -- Science. 2002 Mar 29;295(5564):2456-9. Epub 2002 Feb 7.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Molecular and Cellular Biology, Harvard University, 16 Divinity Avenue, Cambridge, MA 02138, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11834782" target="_blank"〉PubMed〈/a〉
    Keywords: Amino Acid Sequence ; Animals ; Animals, Genetically Modified ; Caenorhabditis elegans/embryology/*genetics/metabolism ; Caenorhabditis elegans Proteins/chemistry/*genetics/*physiology ; Calmodulin-Binding Proteins/genetics ; Cytoplasm/metabolism ; Embryo, Nonmammalian/physiology ; *Gene Silencing ; Genes, Helminth ; Germ Cells/metabolism ; Green Fluorescent Proteins ; Intestines/metabolism ; Luminescent Proteins/genetics ; Membrane Proteins/chemistry/*genetics/*physiology ; Molecular Sequence Data ; Mosaicism ; Muscle Proteins/genetics ; Muscles/metabolism ; Mutation ; Protein Structure, Tertiary ; RNA, Double-Stranded/*genetics/metabolism ; RNA, Helminth/*genetics/metabolism ; Recombinant Fusion Proteins/metabolism ; Transgenes
    Print ISSN: 0036-8075
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    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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    Loren Rieseberg profile. No garden-variety biologist (2003)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2003-12-04
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Brown, Kathryn -- New York, N.Y. -- Science. 2003 Nov 28;302(5650):1499.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/14645825" target="_blank"〉PubMed〈/a〉
    Keywords: Adaptation, Physiological ; *Biological Evolution ; Desert Climate ; Ecosystem ; Environment ; Genes, Plant ; Helianthus/*genetics/growth & development/physiology ; History, 20th Century ; History, 21st Century ; *Hybridization, Genetic ; Mutation ; Phenotype ; Sodium Chloride/pharmacology ; United States
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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    Mutations in dynein link motor neuron degeneration to defects in retrograde transport (2003)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2003-05-06
    Description: Degenerative disorders of motor neurons include a range of progressive fatal diseases such as amyotrophic lateral sclerosis (ALS), spinal-bulbar muscular atrophy (SBMA), and spinal muscular atrophy (SMA). Although the causative genetic alterations are known for some cases, the molecular basis of many SMA and SBMA-like syndromes and most ALS cases is unknown. Here we show that missense point mutations in the cytoplasmic dynein heavy chain result in progressive motor neuron degeneration in heterozygous mice, and in homozygotes this is accompanied by the formation of Lewy-like inclusion bodies, thus resembling key features of human pathology. These mutations exclusively perturb neuron-specific functions of dynein.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Hafezparast, Majid -- Klocke, Rainer -- Ruhrberg, Christiana -- Marquardt, Andreas -- Ahmad-Annuar, Azlina -- Bowen, Samantha -- Lalli, Giovanna -- Witherden, Abi S -- Hummerich, Holger -- Nicholson, Sharon -- Morgan, P Jeffrey -- Oozageer, Ravi -- Priestley, John V -- Averill, Sharon -- King, Von R -- Ball, Simon -- Peters, Jo -- Toda, Takashi -- Yamamoto, Ayumu -- Hiraoka, Yasushi -- Augustin, Martin -- Korthaus, Dirk -- Wattler, Sigrid -- Wabnitz, Philipp -- Dickneite, Carmen -- Lampel, Stefan -- Boehme, Florian -- Peraus, Gisela -- Popp, Andreas -- Rudelius, Martina -- Schlegel, Juergen -- Fuchs, Helmut -- Hrabe de Angelis, Martin -- Schiavo, Giampietro -- Shima, David T -- Russ, Andreas P -- Stumm, Gabriele -- Martin, Joanne E -- Fisher, Elizabeth M C -- New York, N.Y. -- Science. 2003 May 2;300(5620):808-12.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Neurodegenerative Disease, Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12730604" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Anterior Horn Cells/pathology ; Apoptosis ; *Axonal Transport ; Cell Differentiation ; Cell Movement ; Central Nervous System/embryology ; Chromosome Mapping ; Dimerization ; Dyneins/chemistry/*genetics/*physiology ; Female ; Ganglia, Spinal/pathology ; Golgi Apparatus/metabolism/ultrastructure ; Heterozygote ; Homozygote ; Lewy Bodies/pathology ; Male ; Mice ; Mice, Inbred C3H ; Mice, Inbred C57BL ; Motor Neuron Disease/*genetics/pathology/physiopathology ; Motor Neurons/*physiology/ultrastructure ; Mutation ; Mutation, Missense ; *Nerve Degeneration ; Peptide Fragments/metabolism ; Phenotype ; Point Mutation ; Spinal Nerves/growth & development ; Tetanus Toxin/metabolism
    Print ISSN: 0036-8075
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    Environmental Protection Agency. Access to proposals triggers sharp debate (2003)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2003-03-08
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Renner, Rebecca -- New York, N.Y. -- Science. 2003 Mar 7;299(5612):1501.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12624242" target="_blank"〉PubMed〈/a〉
    Keywords: *Access to Information ; Government Agencies ; *Intellectual Property ; National Institutes of Health (U.S.) ; Privacy ; Research Support as Topic ; United States ; *United States Environmental Protection Agency
    Print ISSN: 0036-8075
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    Homeland security. New agency contains strong science arm (2002)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2002-11-26
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Malakoff, David -- New York, N.Y. -- Science. 2002 Nov 22;298(5598):1534.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12446877" target="_blank"〉PubMed〈/a〉
    Keywords: *Bioterrorism ; Financing, Government ; Government Agencies/economics/legislation & jurisprudence/*organization & ; administration ; National Institutes of Health (U.S.) ; Research/*organization & administration ; Research Support as Topic ; Security Measures/economics/legislation & jurisprudence/*organization & ; administration ; United States
    Print ISSN: 0036-8075
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    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 43
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    Inhibition of excess nodal signaling during mouse gastrulation by the transcriptional corepressor DRAP1 (2002)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2002-12-10
    Description: The formation and patterning of mesoderm during mammalian gastrulation require the activity of Nodal, a secreted mesoderm-inducing factor of the transforming growth factor-beta (TGF-beta) family. Here we show that the transcriptional corepressor DRAP1 has a very specific role in regulation of Nodal activity during mouse embryogenesis. We find that loss of Drap1 leads to severe gastrulation defects that are consistent with increased expression of Nodal and can be partially suppressed by Nodal heterozygosity. Biochemical studies indicate that DRAP1 interacts with and inhibits DNA binding by the winged-helix transcription factor FoxH1 (FAST), a critical component of a positive feedback loop for Nodal activity. We propose that DRAP1 limits the spread of a morphogenetic signal by down-modulating the response to the Nodal autoregulatory loop.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Iratni, Rabah -- Yan, Yu-Ting -- Chen, Canhe -- Ding, Jixiang -- Zhang, Yi -- Price, Sandy M -- Reinberg, Danny -- Shen, Michael M -- New York, N.Y. -- Science. 2002 Dec 6;298(5600):1996-9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Howard Hughes Medical Institute and Department of Biochemistry, Division of Nucleic Acids Enzymology, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, Piscataway, NJ 08854, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12471260" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Animals ; Cell Line ; Crosses, Genetic ; DNA/metabolism ; DNA-Binding Proteins/metabolism ; *Embryonic and Fetal Development ; Female ; Forkhead Transcription Factors ; Gastrula/*physiology ; Gene Expression Regulation, Developmental ; Gene Targeting ; Heterozygote ; In Situ Hybridization ; Left-Right Determination Factors ; Male ; Mesoderm/cytology/physiology ; Mice ; Morphogenesis ; Mutation ; Nodal Protein ; Phenotype ; Protein Binding ; RNA Interference ; Recombinant Fusion Proteins/metabolism ; Repressor Proteins/genetics/*metabolism ; Reverse Transcriptase Polymerase Chain Reaction ; *Signal Transduction ; Transcription Factors/metabolism ; Transforming Growth Factor beta/genetics/*metabolism
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    Research and development. A new "industrial ecology" (2002)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2002-04-20
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Coombs, Rod -- Georghiou, Luke -- New York, N.Y. -- Science. 2002 Apr 19;296(5567):471.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Manchester School of Management, University of Manchester Institute of Science and Technology (UMIST), and the Center for Research on Innovation and Competition, Manchester University and UMIST, Manchester M60 1QD, UK. rod.coombs@umist.ac.uk〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11964461" target="_blank"〉PubMed〈/a〉
    Keywords: *Industry ; International Cooperation ; *Research ; Research Support as Topic ; *Technology ; Universities
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    A tomato cysteine protease required for Cf-2-dependent disease resistance and suppression of autonecrosis (2002)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2002-04-27
    Description: Little is known of how plant disease resistance (R) proteins recognize pathogens and activate plant defenses. Rcr3 is specifically required for the function of Cf-2, a Lycopersicon pimpinellifolium gene bred into cultivated tomato (Lycopersicon esculentum) for resistance to Cladosporium fulvum. Rcr3 encodes a secreted papain-like cysteine endoprotease. Genetic analysis shows Rcr3 is allelic to the L. pimpinellifolium Ne gene, which suppresses the Cf-2-dependent autonecrosis conditioned by its L. esculentum allele, ne (necrosis). Rcr3 alleles from these two species encode proteins that differ by only seven amino acids. Possible roles of Rcr3 in Cf-2-dependent defense and autonecrosis are discussed.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Kruger, Julia -- Thomas, Colwyn M -- Golstein, Catherine -- Dixon, Mark S -- Smoker, Matthew -- Tang, Saijun -- Mulder, Lonneke -- Jones, Jonathan D G -- New York, N.Y. -- Science. 2002 Apr 26;296(5568):744-7.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉The Sainsbury Laboratory, John Innes Centre, Norwich NR4 7UH, UK.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11976458" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Amino Acid Sequence ; Base Sequence ; Cladosporium/*physiology ; Cloning, Molecular ; Cysteine Endopeptidases/chemistry/*genetics/*metabolism ; Cysteine Proteinase Inhibitors/pharmacology ; Gene Expression Regulation, Plant ; *Genes, Plant ; Immunity, Innate ; Leucine/analogs & derivatives/pharmacology ; Lycopersicon esculentum/*enzymology/genetics/*microbiology/physiology ; Molecular Sequence Data ; Mutation ; Phenotype ; *Plant Diseases ; Plant Leaves/enzymology ; Plant Proteins/*metabolism ; Plants, Genetically Modified ; Promoter Regions, Genetic ; Recombinant Fusion Proteins/chemistry/metabolism ; Tobacco/genetics ; Transgenes
    Print ISSN: 0036-8075
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    Historical essay. Prospects for the future (2002)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2002-12-03
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Gallo, Robert C -- Montagnier, Luc -- New York, N.Y. -- Science. 2002 Nov 29;298(5599):1730-1.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Institute of Human Virology and Department of Microbiology and Immunology, University of Maryland, Baltimore, MD 21201, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12459577" target="_blank"〉PubMed〈/a〉
    Keywords: AIDS Vaccines/immunology/therapeutic use ; *Acquired Immunodeficiency Syndrome/drug therapy/prevention & ; control/transmission/virology ; Anti-HIV Agents/therapeutic use ; Biomedical Research ; Clinical Trials as Topic ; Developed Countries ; Developing Countries ; Drug Costs ; Female ; HIV/drug effects ; Health Services/economics ; Humans ; Infant, Newborn ; Infectious Disease Transmission, Vertical ; International Cooperation ; Pregnancy ; Pregnancy Complications, Infectious/drug therapy ; Research Support as Topic ; Technology Transfer ; United Nations
    Print ISSN: 0036-8075
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    Aging and genome maintenance: lessons from the mouse? (2003)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2003-03-01
    Description: Recent progress in the science of aging is driven largely by the use of model systems, ranging from yeast and nematodes to mice. These models have revealed conservation in genetic pathways that balance energy production and its damaging by-products with pathways that preserve somatic maintenance. Maintaining genome integrity has emerged as a major factor in longevity and cell viability. Here we discuss the use of mouse models with defects in genome maintenance for understanding the molecular basis of aging in humans.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Hasty, Paul -- Campisi, Judith -- Hoeijmakers, Jan -- van Steeg, Harry -- Vijg, Jan -- AG17242/AG/NIA NIH HHS/ -- New York, N.Y. -- Science. 2003 Feb 28;299(5611):1355-9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Molecular Medicine, University of Texas Health Science Center, San Antonio, TX 78245, USA. hastye@uthscsa.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12610296" target="_blank"〉PubMed〈/a〉
    Keywords: *Aging/genetics ; Aging, Premature/*genetics ; Animals ; Apoptosis ; Cell Aging ; *DNA Damage ; DNA Helicases/genetics/metabolism ; *DNA Repair/genetics ; Exodeoxyribonucleases ; *Genome ; Genome, Human ; Humans ; Longevity/genetics ; Mice ; Mutation ; Reactive Oxygen Species/metabolism ; RecQ Helicases ; Syndrome ; Telomere/physiology ; Transcription, Genetic
    Print ISSN: 0036-8075
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    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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    Molecular pathways of neurodegeneration in Parkinson's disease (2003)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2003-11-01
    Description: Parkinson's disease (PD) is a complex disorder with many different causes, yet they may intersect in common pathways, raising the possibility that neuroprotective agents may have broad applicability in the treatment of PD. Current evidence suggests that mitochondrial complex I inhibition may be the central cause of sporadic PD and that derangements in complex I cause alpha-synuclein aggregation, which contributes to the demise of dopamine neurons. Accumulation and aggregation of alpha-synuclein may further contribute to the death of dopamine neurons through impairments in protein handling and detoxification. Dysfunction of parkin (a ubiquitin E3 ligase) and DJ-1 could contribute to these deficits. Strategies aimed at restoring complex I activity, reducing oxidative stress and alpha-synuclein aggregation, and enhancing protein degradation may hold particular promise as powerful neuroprotective agents in the treatment of PD.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Dawson, Ted M -- Dawson, Valina L -- NS38377/NS/NINDS NIH HHS/ -- New York, N.Y. -- Science. 2003 Oct 31;302(5646):819-22.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA. tdawson@jhmi.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/14593166" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Animals, Genetically Modified ; Brain/*metabolism/pathology ; Cysteine Endopeptidases/metabolism ; Dopamine/metabolism ; Electron Transport Complex I/antagonists & inhibitors/genetics/*metabolism ; Humans ; Mitochondria/enzymology ; Multienzyme Complexes/metabolism ; Mutation ; Nerve Degeneration ; Nerve Tissue Proteins/chemistry/genetics/metabolism ; Neurons/*metabolism/pathology ; Oxidative Stress ; Parkinson Disease/*etiology/genetics/metabolism/pathology ; Parkinsonian Disorders/genetics/metabolism/pathology ; Proteasome Endopeptidase Complex ; Synucleins ; Ubiquitin/metabolism ; Ubiquitin-Protein Ligases/genetics/metabolism ; alpha-Synuclein
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    Ecology. New count of old whales adds up to big debate (2003)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2003-07-26
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Lubick, Naomi -- New York, N.Y. -- Science. 2003 Jul 25;301(5632):451.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12881542" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Atlantic Ocean ; Conservation of Natural Resources ; DNA, Mitochondrial/genetics ; *Ecosystem ; Female ; Genetic Variation ; Genetics, Population ; Male ; Mutation ; Population Density ; Population Dynamics ; Time Factors ; *Whales/genetics
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    Chromosomal instability and tumors promoted by DNA hypomethylation (2003)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2003-04-19
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Eden, Amir -- Gaudet, Francois -- Waghmare, Alpana -- Jaenisch, Rudolf -- CA87869/CA/NCI NIH HHS/ -- New York, N.Y. -- Science. 2003 Apr 18;300(5618):455.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Whitehead Institute for Biomedical Research, Massachusetts Institute of Technology, Nine Cambridge Center, Cambridge, MA 02142, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12702868" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Chromosomes, Mammalian/*genetics/physiology ; DNA (Cytosine-5-)-Methyltransferase/genetics/metabolism ; *DNA Methylation ; Fibroblasts/metabolism ; Genes, Neurofibromatosis 1 ; Genes, p53 ; Humans ; *Loss of Heterozygosity ; Mice ; Mutation ; Neoplasms/genetics ; Recombination, Genetic ; Sarcoma/*genetics ; Soft Tissue Neoplasms/*genetics
    Print ISSN: 0036-8075
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    Biomedicine. Ataxin-1 regulators in the spotlight (2003)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2003-07-05
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Heintz, Nathaniel -- New York, N.Y. -- Science. 2003 Jul 4;301(5629):59-60.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Molecular Biology, Rockefeller University, New York, NY 10021, USA. heintz@rockefeller.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12843383" target="_blank"〉PubMed〈/a〉
    Keywords: 14-3-3 Proteins ; Amino Acid Substitution ; Animals ; Ataxin-1 ; Ataxins ; Cell Nucleus/metabolism ; Disease Progression ; Mice ; Mice, Transgenic ; Mutation ; Nerve Tissue Proteins/*chemistry/genetics/*metabolism ; Nuclear Proteins/*chemistry/genetics/*metabolism ; Peptides ; Phosphorylation ; *Protein-Serine-Threonine Kinases ; Proto-Oncogene Proteins/*metabolism ; Proto-Oncogene Proteins c-akt ; Purkinje Cells/metabolism/ultrastructure ; Signal Transduction ; Spinocerebellar Ataxias/etiology/genetics/pathology/*physiopathology ; *Trinucleotide Repeat Expansion ; Tyrosine 3-Monooxygenase/*metabolism
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    Genetic control of surface curvature (2003)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2003-03-01
    Description: Although curvature of biological surfaces has been considered from mathematical and biophysical perspectives, its molecular and developmental basis is unclear. We have studied the cin mutant of Antirrhinum, which has crinkly rather than flat leaves. Leaves of cin display excess growth in marginal regions, resulting in a gradual introduction of negative curvature during development. This reflects a change in the shape and the progression of a cell-cycle arrest front moving from the leaf tip toward the base. CIN encodes a TCP protein and is expressed downstream of the arrest front. We propose that CIN promotes zero curvature (flatness) by making cells more sensitive to an arrest signal, particularly in marginal regions.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Nath, Utpal -- Crawford, Brian C W -- Carpenter, Rosemary -- Coen, Enrico -- New York, N.Y. -- Science. 2003 Feb 28;299(5611):1404-7.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Cell and Developmental Biology, John Innes Centre, Norwich Research Park, Norwich, NR4 7UH, UK.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12610308" target="_blank"〉PubMed〈/a〉
    Keywords: Amino Acid Sequence ; Antirrhinum/cytology/*genetics/*growth & development/metabolism ; Base Sequence ; Cell Cycle ; Cell Differentiation ; Cell Division ; Cell Size ; Cyclin D3 ; Cyclins/genetics/metabolism ; Gene Deletion ; *Gene Expression Regulation, Plant ; *Genes, Plant ; Histones/genetics/metabolism ; Molecular Sequence Data ; Mutagenesis, Insertional ; Mutation ; Plant Leaves/anatomy & histology/cytology/*growth & development/metabolism ; Plant Proteins/chemistry/genetics/metabolism ; Surface Properties ; Transcription Factors/chemistry/genetics/*metabolism
    Print ISSN: 0036-8075
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    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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    Lamin a truncation in Hutchinson-Gilford progeria (2003)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2003-04-19
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉De Sandre-Giovannoli, Annachiara -- Bernard, Rafaelle -- Cau, Pierre -- Navarro, Claire -- Amiel, Jeanne -- Boccaccio, Irene -- Lyonnet, Stanislas -- Stewart, Colin L -- Munnich, Arnold -- Le Merrer, Martine -- Levy, Nicolas -- New York, N.Y. -- Science. 2003 Jun 27;300(5628):2055. Epub 2003 Apr 17.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Inserm U491: Genetique Medicale et Developpement, Faculte de Medecine Timone, Marseille, France.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12702809" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Cell Nucleus/ultrastructure ; Child ; Exons ; Female ; Humans ; Lamin Type A/analysis/*chemistry/*genetics ; Lymphocytes/chemistry/ultrastructure ; Mutation ; Polymorphism, Genetic ; Progeria/blood/*genetics ; RNA Splicing ; RNA, Messenger/genetics ; Sequence Deletion ; Transcription, Genetic
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    The origins of genome complexity (2003)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2003-11-25
    Description: Complete genomic sequences from diverse phylogenetic lineages reveal notable increases in genome complexity from prokaryotes to multicellular eukaryotes. The changes include gradual increases in gene number, resulting from the retention of duplicate genes, and more abrupt increases in the abundance of spliceosomal introns and mobile genetic elements. We argue that many of these modifications emerged passively in response to the long-term population-size reductions that accompanied increases in organism size. According to this model, much of the restructuring of eukaryotic genomes was initiated by nonadaptive processes, and this in turn provided novel substrates for the secondary evolution of phenotypic complexity by natural selection. The enormous long-term effective population sizes of prokaryotes may impose a substantial barrier to the evolution of complex genomes and morphologies.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Lynch, Michael -- Conery, John S -- New York, N.Y. -- Science. 2003 Nov 21;302(5649):1401-4.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Biology, Indiana University, Bloomington, IN 47405, USA. mlynch@bio.indiana.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/14631042" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Animals ; Bacteria/genetics ; Body Constitution ; Eukaryota/genetics ; *Evolution, Molecular ; Fungi/genetics ; Gene Duplication ; Gene Silencing ; Genetic Drift ; Genetic Variation ; *Genome ; Humans ; Interspersed Repetitive Sequences ; Introns ; Invertebrates/genetics ; Mutation ; *Phylogeny ; Plants/genetics ; Population Density ; Recombination, Genetic ; Selection, Genetic ; Spliceosomes ; Vertebrates/genetics
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    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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    Evolution. Climb every mountain? (2003)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2003-12-20
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Elena, Santiago F -- Sanjuan, Rafael -- New York, N.Y. -- Science. 2003 Dec 19;302(5653):2074-5.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Instituto de Biologia Molecular y Celular de Plantas, Consejo Superior de Investigaciones Cientificas-UPV, 46022 Valencia, Spain. sfelena@ibmcp.upv.es〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/14684807" target="_blank"〉PubMed〈/a〉
    Keywords: *Adaptation, Physiological ; Animals ; *Biological Evolution ; Chlamydomonas/physiology ; Darkness ; *Ecosystem ; Environment ; *Genetic Variation ; Genotype ; Light ; Mutation ; Phenotype ; Pseudomonas fluorescens/genetics/*physiology ; RNA Viruses/physiology ; Selection, Genetic
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    Loss of a callose synthase results in salicylic acid-dependent disease resistance (2003)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2003-08-16
    Description: Plants attacked by pathogens rapidly deposit callose, a beta-1,3-glucan, at wound sites. Traditionally, this deposition is thought to reinforce the cell wall and is regarded as a defense response. Surprisingly, here we found that powdery mildew resistant 4 (pmr4), a mutant lacking pathogen-induced callose, became resistant to pathogens, rather than more susceptible. This resistance was due to mutation of a callose synthase, resulting in a loss of the induced callose response. Double-mutant analysis indicated that blocking the salicylic acid (SA) defense signaling pathway was sufficient to restore susceptibility to pmr4 mutants. Thus, callose or callose synthase negatively regulates the SA pathway.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Nishimura, Marc T -- Stein, Monica -- Hou, Bi-Huei -- Vogel, John P -- Edwards, Herb -- Somerville, Shauna C -- New York, N.Y. -- Science. 2003 Aug 15;301(5635):969-72.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Plant Biology, Carnegie Institution, Stanford, CA 94305, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12920300" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Arabidopsis/cytology/genetics/*metabolism/*microbiology ; Ascomycota/*physiology ; Cell Death ; Gene Expression Profiling ; Gene Expression Regulation, Plant ; Genes, Plant ; Glucans/metabolism ; Glucosyltransferases/*genetics/metabolism ; *Membrane Proteins ; Mutation ; Oligonucleotide Array Sequence Analysis ; Phenotype ; *Plant Diseases ; Plant Leaves/metabolism ; Salicylic Acid/*metabolism ; *Schizosaccharomyces pombe Proteins ; Signal Transduction
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    Plant Biology. Hormones and the green revolution (2003)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2003-10-04
    Description: The success of the green revolution largely resulted from the creation of dwarf cultivars of wheat and rice, which had much higher yields than conventional crops. Characterization of these dwarf cultivars showed that the mutant genes were involved in either the synthesis or signaling of gibberellin, a plant growth hormone. In his Perspective, Salamini highlights new work (Multani et al.) that identifies the cause of dwarfism in agronomically important varieties of maize and sorghum. In these cases, dwarfism is caused by defective transport of another growth hormone called auxin.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Salamini, Francesco -- New York, N.Y. -- Science. 2003 Oct 3;302(5642):71-2.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Max Planck Institute of Breeding Research, 50829 Koln, Germany. salamini@mpiz-koeln.mpg.de〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/14526071" target="_blank"〉PubMed〈/a〉
    Keywords: Agriculture ; Arabidopsis/genetics/growth & development/metabolism ; Arabidopsis Proteins/genetics/metabolism ; Biological Transport ; Breeding ; *Genes, Plant ; Genetic Engineering ; Genome, Plant ; Indoleacetic Acids/*metabolism ; Light ; Mutation ; P-Glycoproteins/genetics/metabolism ; Phenotype ; Plant Proteins/genetics/metabolism ; Poaceae/genetics/growth & development/*metabolism ; Quantitative Trait Loci ; Zea mays/genetics/growth & development/*metabolism
    Print ISSN: 0036-8075
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    Cell biology. Microtubule asymmetry (2003)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2003-06-28
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Gundersen, Gregg G -- Bretscher, Anthony -- New York, N.Y. -- Science. 2003 Jun 27;300(5628):2040-1.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Anatomy and Cell Biology and Department of Pathology, Columbia University, New York, NY 10032, USA. ggg1@columbia.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12829769" target="_blank"〉PubMed〈/a〉
    Keywords: Actins/metabolism ; CDC28 Protein Kinase, S cerevisiae/*metabolism ; Cell Cycle Proteins/metabolism ; Cell Division ; Cell Polarity ; Cyclins/metabolism ; Microtubule Proteins/metabolism ; Microtubule-Organizing Center/*metabolism/ultrastructure ; Microtubules/*metabolism/ultrastructure ; Models, Biological ; Mutation ; Myosin Heavy Chains/metabolism ; Myosin Type V/metabolism ; Nuclear Proteins/*metabolism ; Phosphorylation ; Protein Transport ; Saccharomyces cerevisiae/cytology/metabolism/ultrastructure ; Saccharomyces cerevisiae Proteins/metabolism ; Spindle Apparatus/*physiology/ultrastructure
    Print ISSN: 0036-8075
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    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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    Infectious diseases. Searching for a SARS agenda (2003)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2003-06-07
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Enserink, Martin -- New York, N.Y. -- Science. 2003 Jun 6;300(5625):1487-8.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12791953" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; *Biomedical Research ; Communicable Diseases, Emerging/diagnosis/prevention & control/transmission ; Disease Outbreaks ; Disease Reservoirs ; Humans ; National Institutes of Health (U.S.) ; Research Support as Topic ; SARS Virus/immunology ; *Severe Acute Respiratory Syndrome/diagnosis/epidemiology/prevention & ; control/transmission ; United States ; Viral Vaccines/economics
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    A gene-coexpression network for global discovery of conserved genetic modules (2003)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2003-08-23
    Description: To elucidate gene function on a global scale, we identified pairs of genes that are coexpressed over 3182 DNA microarrays from humans, flies, worms, and yeast. We found 22,163 such coexpression relationships, each of which has been conserved across evolution. This conservation implies that the coexpression of these gene pairs confers a selective advantage and therefore that these genes are functionally related. Many of these relationships provide strong evidence for the involvement of new genes in core biological functions such as the cell cycle, secretion, and protein expression. We experimentally confirmed the predictions implied by some of these links and identified cell proliferation functions for several genes. By assembling these links into a gene-coexpression network, we found several components that were animal-specific as well as interrelationships between newly evolved and ancient modules.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Stuart, Joshua M -- Segal, Eran -- Koller, Daphne -- Kim, Stuart K -- New York, N.Y. -- Science. 2003 Oct 10;302(5643):249-55. Epub 2003 Aug 21.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Stanford Medical Informatics, 251 Campus Drive, Medical School Office Building X-215, Stanford, CA 94305-5329, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12934013" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Biological Evolution ; Caenorhabditis elegans/genetics ; Cell Cycle/genetics ; Cell Division/genetics ; Computational Biology ; Conserved Sequence ; Databases, Genetic ; Drosophila melanogaster/genetics ; *Gene Expression ; Gene Expression Profiling ; Gene Expression Regulation ; Genes, Fungal ; Genes, Helminth ; Genes, Insect ; Humans ; Models, Statistical ; Mutation ; *Oligonucleotide Array Sequence Analysis ; Proteins/metabolism ; Saccharomyces cerevisiae/genetics ; Signal Transduction/genetics ; Species Specificity ; Tumor Cells, Cultured
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    Botany. State transitions--a question of balance (2003)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2003-03-08
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Allen, John F -- New York, N.Y. -- Science. 2003 Mar 7;299(5612):1530-2.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Plant Biochemistry, Center for Chemistry and Chemical Engineering, Box 124, Lund University, SE-221 00 Lund, Sweden. john.allen@plantbio.lu.se〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12624254" target="_blank"〉PubMed〈/a〉
    Keywords: Algal Proteins/chemistry/genetics/isolation & purification/metabolism ; Animals ; Binding Sites ; Chlamydomonas reinhardtii/*enzymology/genetics/metabolism ; Chlorophyll/metabolism ; Electron Transport ; Fluorescence ; Gene Library ; Light ; Light-Harvesting Protein Complexes ; Models, Biological ; Mutation ; Oxidation-Reduction ; Phosphorylation ; Photosynthesis ; Photosynthetic Reaction Center Complex Proteins/*metabolism ; Plastoquinone/metabolism ; Protein-Serine-Threonine Kinases/chemistry/genetics/*isolation & ; purification/*metabolism ; Signal Transduction ; Thylakoids/*enzymology ; Transcription, Genetic
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    Transcription. Histones face the FACT (2003)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2003-08-23
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Svejstrup, Jesper Q -- New York, N.Y. -- Science. 2003 Aug 22;301(5636):1053-5.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Cancer Research, London Research Institute, Clare Hall Laboratories, Hertfordshire, UK. j.svejstrup@cancer.org.uk〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12933997" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Chromatin/metabolism ; DNA/metabolism ; *DNA-Binding Proteins ; Dimerization ; Drosophila/genetics/metabolism ; *Drosophila Proteins ; *High Mobility Group Proteins ; Histones/*metabolism ; Humans ; Mutation ; Nuclear Proteins/*metabolism ; Nucleosomes/*metabolism ; RNA Polymerase II/*metabolism ; Saccharomyces cerevisiae/genetics/metabolism ; Saccharomyces cerevisiae Proteins/*metabolism ; *Transcription, Genetic ; Transcriptional Elongation Factors/*metabolism
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    The dog genome: survey sequencing and comparative analysis (2003)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2003-09-27
    Description: A survey of the dog genome sequence (6.22 million sequence reads; 1.5x coverage) demonstrates the power of sample sequencing for comparative analysis of mammalian genomes and the generation of species-specific resources. More than 650 million base pairs (〉25%) of dog sequence align uniquely to the human genome, including fragments of putative orthologs for 18,473 of 24,567 annotated human genes. Mutation rates, conserved synteny, repeat content, and phylogeny can be compared among human, mouse, and dog. A variety of polymorphic elements are identified that will be valuable for mapping the genetic basis of diseases and traits in the dog.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Kirkness, Ewen F -- Bafna, Vineet -- Halpern, Aaron L -- Levy, Samuel -- Remington, Karin -- Rusch, Douglas B -- Delcher, Arthur L -- Pop, Mihai -- Wang, Wei -- Fraser, Claire M -- Venter, J Craig -- New York, N.Y. -- Science. 2003 Sep 26;301(5641):1898-903.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉The Institute for Genomic Research, Rockville, MD 20850, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/14512627" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Chromosomes, Mammalian/genetics ; Computational Biology ; Conserved Sequence ; Contig Mapping ; DNA, Intergenic ; Dogs/*genetics ; Genetic Variation ; *Genome ; Genome, Human ; Genomics ; Humans ; Long Interspersed Nucleotide Elements ; Male ; Mice/genetics ; Molecular Sequence Data ; Mutation ; Phylogeny ; Physical Chromosome Mapping ; Polymorphism, Single Nucleotide ; RNA, Messenger/genetics ; Repetitive Sequences, Nucleic Acid ; Sequence Alignment ; *Sequence Analysis, DNA ; Short Interspersed Nucleotide Elements ; Synteny
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    A cellular framework for gut-looping morphogenesis in zebrafish (2003)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2003-10-25
    Description: Many vertebrate organs adopt asymmetric positions with respect to the midline, but little is known about the cellular changes and tissue movements that occur downstream of left-right gene expression to produce this asymmetry. Here, we provide evidence that the looping of the zebrafish gut results from the asymmetric migration of the neighboring lateral plate mesoderm (LPM). Mutations that disrupt the epithelial structure of the LPM perturb this asymmetric migration and inhibit gut looping. Asymmetric LPM migration still occurs when the endoderm is ablated from the gut-looping region, suggesting that the LPM can autonomously provide a motive force for gut displacement. Finally, reducing left-sided Nodal activity randomizes the pattern of LPM migration and gut looping. These results reveal a cellular framework for the regulation of organ laterality by asymmetrically expressed genes.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Horne-Badovinac, Sally -- Rebagliati, Michael -- Stainier, Didier Y R -- New York, N.Y. -- Science. 2003 Oct 24;302(5645):662-5.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Biochemistry and Biophysics, Programs in Developmental Biology, Genetics, and Human Genetics, University of California, San Francisco, CA 94143, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/14576439" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; *Body Patterning ; Cell Movement ; Cues ; Endoderm/physiology ; *Gene Expression Regulation, Developmental ; Guanylate Kinase ; Homeodomain Proteins/genetics/physiology ; Intestines/*embryology ; Isoenzymes ; Mesoderm/cytology/physiology ; Morphogenesis ; Mutation ; *Nuclear Proteins ; Nucleoside-Phosphate Kinase/genetics/metabolism ; Oligonucleotides, Antisense ; Phenotype ; Protein Kinase C/genetics/physiology ; Transcription Factors/genetics/physiology ; Zebrafish/*embryology/genetics ; Zebrafish Proteins/genetics/physiology
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    Disruption of transforming growth factor-beta signaling in ELF beta-spectrin-deficient mice (2003)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2003-01-25
    Description: Disruption of the adaptor protein ELF, a beta-spectrin, leads to disruption of transforming growth factor-beta (TGF-beta) signaling by Smad proteins in mice. Elf-/- mice exhibit a phenotype similar to smad2+/-/smad3+/- mutant mice of midgestational death due to gastrointestinal, liver, neural, and heart defects. We show that TGF-beta triggers phosphorylation and association of ELF with Smad3 and Smad4, followed by nuclear translocation. ELF deficiency results in mislocalization of Smad3 and Smad4 and loss of the TGF-beta-dependent transcriptional response, which could be rescued by overexpression of the COOH-terminal region of ELF. This study reveals an unexpected molecular link between a major dynamic scaffolding protein and a key signaling pathway.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Tang, Yi -- Katuri, Varalakshmi -- Dillner, Allan -- Mishra, Bibhuti -- Deng, Chu-Xia -- Mishra, Lopa -- R01 DK56111/DK/NIDDK NIH HHS/ -- R01 DK58637/DK/NIDDK NIH HHS/ -- R03 DK53861/DK/NIDDK NIH HHS/ -- New York, N.Y. -- Science. 2003 Jan 24;299(5606):574-7.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Laboratory of Developmental Biology, Department of Medicine, Georgetown University, Washington, DC 20007, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12543979" target="_blank"〉PubMed〈/a〉
    Keywords: Abnormalities, Multiple ; Animals ; Carrier Proteins/metabolism ; Cell Membrane/metabolism ; Cell Nucleus/metabolism ; Contractile Proteins/metabolism ; DNA-Binding Proteins/metabolism ; Embryonic and Fetal Development ; Filamins ; Gene Targeting ; Genes, fos ; Liver/abnormalities/embryology/*metabolism ; Mice ; Mice, Knockout ; Microfilament Proteins/metabolism ; Microscopy, Confocal ; Mutation ; Phenotype ; Phosphorylation ; Platelet-Derived Growth Factor/pharmacology ; *Signal Transduction ; Smad2 Protein ; Smad3 Protein ; Smad4 Protein ; Spectrin/genetics/*metabolism ; Trans-Activators/metabolism ; Transcriptional Activation ; Transforming Growth Factor beta/*metabolism/pharmacology ; Tumor Cells, Cultured
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    ARGONAUTE4 control of locus-specific siRNA accumulation and DNA and histone methylation (2003)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2003-01-11
    Description: Proteins of the ARGONAUTE family are important in diverse posttranscriptional RNA-mediated gene-silencing systems as well as in transcriptional gene silencing in Drosophila and fission yeast and in programmed DNA elimination in Tetrahymena. We cloned ARGONAUTE4 (AGO4) from a screen for mutants that suppress silencing of the Arabidopsis SUPERMAN (SUP) gene. The ago4-1 mutant reactivated silent SUP alleles and decreased CpNpG and asymmetric DNA methylation as well as histone H3 lysine-9 methylation. In addition, ago4-1 blocked histone and DNA methylation and the accumulation of 25-nucleotide small interfering RNAs (siRNAs) that correspond to the retroelement AtSN1. These results suggest that AGO4 and long siRNAs direct chromatin modifications, including histone methylation and non-CpG DNA methylation.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Zilberman, Daniel -- Cao, Xiaofeng -- Jacobsen, Steven E -- GM07185/GM/NIGMS NIH HHS/ -- GM60398/GM/NIGMS NIH HHS/ -- New York, N.Y. -- Science. 2003 Jan 31;299(5607):716-9. Epub 2003 Jan 9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Molecular, Cell, and Developmental Biology, Molecular Biology Institute, University of California, Los Angeles, CA 90095-1606.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12522258" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Arabidopsis/genetics/*metabolism ; Arabidopsis Proteins/chemistry/*genetics/*metabolism ; Argonaute Proteins ; Cloning, Molecular ; *DNA Methylation ; DNA, Plant/metabolism ; DNA-Cytosine Methylases/genetics/metabolism ; Dinucleoside Phosphates/metabolism ; Gene Silencing ; Genes, Plant ; Genes, Suppressor ; Histone-Lysine N-Methyltransferase ; Histones/*metabolism ; Methylation ; Methyltransferases/genetics/metabolism ; Mutation ; RNA, Plant/metabolism ; RNA, Small Interfering/*metabolism ; Retroelements ; Suppression, Genetic ; Transcription Factors/genetics/metabolism
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    Photic induction of mPer1 and mPer2 in cry-deficient mice lacking a biological clock (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2000-01-05
    Description: Mice lacking mCry1 and mCry2 are behaviorally arrhythmic. As shown here, cyclic expression of the clock genes mPer1 and mPer2 (mammalian Period genes 1 and 2) in the suprachiasmatic nucleus and peripheral tissues is abolished and mPer1 and mPer2 mRNA levels are constitutively high. These findings indicate that the biological clock is eliminated in the absence of both mCRY1 and mCRY2 (mammalian cryptochromes 1 and 2) and support the idea that mammalian CRY proteins act in the negative limb of the circadian feedback loop. The mCry double-mutant mice retain the ability to have mPer1 and mPer2 expression induced by a brief light stimulus known to phase-shift the biological clock in wild-type animals. Thus, mCRY1 and mCRY2 are dispensable for light-induced phase shifting of the biological clock.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Okamura, H -- Miyake, S -- Sumi, Y -- Yamaguchi, S -- Yasui, A -- Muijtjens, M -- Hoeijmakers, J H -- van der Horst, G T -- New York, N.Y. -- Science. 1999 Dec 24;286(5449):2531-4.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Anatomy and Brain Science, Kobe University School of Medicine, Kobe 650-0017, Japan. okamurah@kobe-u.ac.jp〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10617474" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Biological Clocks/*physiology ; Cell Cycle Proteins ; Circadian Rhythm/*physiology ; Cryptochromes ; *Drosophila Proteins ; *Eye Proteins ; Feedback ; Flavoproteins/genetics/*physiology ; Gene Expression Regulation ; In Situ Hybridization ; *Light ; Liver/metabolism ; Mice ; Mice, Inbred BALB C ; Mice, Inbred C57BL ; Mutation ; Nuclear Proteins/*genetics ; Period Circadian Proteins ; *Photoreceptor Cells, Invertebrate ; Polymerase Chain Reaction ; RNA, Messenger/genetics/metabolism ; Receptors, G-Protein-Coupled ; Retina/metabolism ; Suprachiasmatic Nucleus/metabolism ; Transcription Factors
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    A mutation in the C. elegans EXP-2 potassium channel that alters feeding behavior (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2000-01-05
    Description: The nematode pharynx has a potassium channel with unusual properties, which allows the muscles to repolarize quickly and with the proper delay. Here, the Caenorhabditis elegans exp-2 gene is shown to encode this channel. EXP-2 is a Kv-type (voltage-activated) potassium channel that has inward-rectifying properties resembling those of the structurally dissimilar human ether-a-go-go-related gene (HERG) channel. Null and gain-of-function mutations affect pharyngeal muscle excitability in ways that are consistent with the electrophysiological behavior of the channel, and thereby demonstrate a direct link between the kinetics of this unusual channel and behavior.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3791429/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3791429/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Davis, M W -- Fleischhauer, R -- Dent, J A -- Joho, R H -- Avery, L -- HL46154/HL/NHLBI NIH HHS/ -- NS28407/NS/NINDS NIH HHS/ -- R01 HL046154/HL/NHLBI NIH HHS/ -- New York, N.Y. -- Science. 1999 Dec 24;286(5449):2501-4.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX 75390-9148, USA. wdavis@biology.utah.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10617464" target="_blank"〉PubMed〈/a〉
    Keywords: Action Potentials ; Animals ; Caenorhabditis elegans/genetics/*physiology ; Feeding Behavior ; Genes, Helminth ; Genes, Reporter ; Ion Channel Gating ; Kinetics ; Membrane Potentials ; Models, Molecular ; Muscles/metabolism ; Mutation ; Neurons/metabolism ; Oocytes/metabolism ; Pharyngeal Muscles/physiology ; Potassium Channels/chemistry/genetics/*physiology ; Protein Conformation ; RNA, Complementary/genetics ; Recombinant Fusion Proteins/biosynthesis ; Xenopus laevis
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    Circadian rhythms. Possible clock messenger identified (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2000-01-15
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Barinaga, M -- New York, N.Y. -- Science. 1999 Dec 24;286(5449):2434-6.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10636797" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Biological Clocks/*physiology ; Brain/metabolism ; CLOCK Proteins ; Circadian Rhythm/*physiology ; Darkness ; Drosophila/genetics/physiology ; *Drosophila Proteins ; Gene Expression Regulation ; Genes, Insect ; Light ; Mutation ; Neurons/metabolism ; Neuropeptides/genetics/*physiology ; Transcription Factors/genetics/physiology
    Print ISSN: 0036-8075
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    Molecular linkage underlying microtubule orientation toward cortical sites in yeast (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2000-03-24
    Description: Selective microtubule orientation toward spatially defined cortical sites is critical to polarized cellular processes as diverse as axon outgrowth and T cell cytotoxicity. In yeast, oriented cytoplasmic microtubules align the mitotic spindle between mother and bud. The cortical marker protein Kar9 localizes to the bud tip and is required for the orientation of microtubules toward this region. Here, we show that Kar9 directs microtubule orientation by acting through Bim1, a conserved microtubule-binding protein. Bim1 homolog EB1 was originally identified through its interaction with adenomatous polyposis coli (APC) tumor suppressor, raising the possibility that an APC-EB1 linkage orients microtubules in higher cells.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Korinek, W S -- Copeland, M J -- Chaudhuri, A -- Chant, J -- GM07620-19/GM/NIGMS NIH HHS/ -- GM07620-20/GM/NIGMS NIH HHS/ -- GM49782/GM/NIGMS NIH HHS/ -- etc. -- New York, N.Y. -- Science. 2000 Mar 24;287(5461):2257-9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Molecular and Cellular Biology, Harvard University, 7 Divinity Avenue, Cambridge, MA 02138, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10731146" target="_blank"〉PubMed〈/a〉
    Keywords: Adenomatous Polyposis Coli Protein ; Cell Cycle Proteins/genetics/*metabolism ; Cell Nucleus/physiology ; Cytoskeletal Proteins/metabolism ; Microtubule Proteins/genetics/*metabolism ; Microtubule-Associated Proteins/metabolism ; Microtubules/metabolism/*physiology ; Mutation ; Nuclear Proteins/genetics/*metabolism ; Phenotype ; Protein Binding ; Recombinant Fusion Proteins/metabolism ; Saccharomyces cerevisiae/cytology/genetics/*physiology ; *Saccharomyces cerevisiae Proteins ; Spindle Apparatus/*physiology ; Two-Hybrid System Techniques
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    Malaria researchers wait for industry to join fight (2001)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2001-02-07
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Enserink, M -- New York, N.Y. -- Science. 2000 Mar 17;287(5460):1956-8.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10755950" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; *Antimalarials/pharmacology/therapeutic use ; *Chemistry, Pharmaceutical ; *Drug Design ; *Drug Industry/economics ; Drug Resistance ; Drug Therapy, Combination ; Humans ; Malaria/*drug therapy ; Patents as Topic ; Plasmodium/*drug effects/genetics/metabolism ; Plasmodium falciparum/genetics ; Research Support as Topic ; Taxes
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    Role of the mouse ank gene in control of tissue calcification and arthritis (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2000-07-15
    Description: Mutation at the mouse progressive ankylosis (ank) locus causes a generalized, progressive form of arthritis accompanied by mineral deposition, formation of bony outgrowths, and joint destruction. Here, we show that the ank locus encodes a multipass transmembrane protein (ANK) that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. A highly conserved gene is present in humans and other vertebrates. These results identify ANK-mediated control of pyrophosphate levels as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Ho, A M -- Johnson, M D -- Kingsley, D M -- 5T32GM07365/GM/NIGMS NIH HHS/ -- New York, N.Y. -- Science. 2000 Jul 14;289(5477):265-70.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Developmental Biology and Howard Hughes Medical Institute, Beckman Center B300, Stanford University School of Medicine, Stanford, CA 94305-5327, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10894769" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Arthritis/*genetics/metabolism/pathology ; Base Sequence ; Biological Transport ; COS Cells ; Calcinosis/*genetics ; Chromosome Mapping ; Cloning, Molecular ; Dna ; Diphosphates/*metabolism ; Durapatite/metabolism ; Gene Expression ; Genetic Complementation Test ; Humans ; Membrane Proteins/*genetics/metabolism/*physiology ; Mice ; Mice, Transgenic ; Molecular Sequence Data ; Mutation ; Phenotype ; Phosphate Transport Proteins ; Physical Chromosome Mapping ; Sequence Homology, Nucleic Acid ; Tissue Distribution
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    A structural model of transcription elongation (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2000-08-01
    Description: The path of the nucleic acids through a transcription elongation complex was tracked by mapping cross-links between bacterial RNA polymerase (RNAP) and transcript RNA or template DNA onto the x-ray crystal structure. In the resulting model, the downstream duplex DNA is nestled in a trough formed by the beta' subunit and enclosed on top by the beta subunit. In the RNAP channel, the RNA/DNA hybrid extends from the enzyme active site, along a region of the beta subunit harboring rifampicin resistance mutations, to the beta' subunit "rudder." The single-stranded RNA is then extruded through another channel formed by the beta-subunit flap domain. The model provides insight into the functional properties of the transcription complex.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Korzheva, N -- Mustaev, A -- Kozlov, M -- Malhotra, A -- Nikiforov, V -- Goldfarb, A -- Darst, S A -- GM30717/GM/NIGMS NIH HHS/ -- GM49242/GM/NIGMS NIH HHS/ -- GM53759/GM/NIGMS NIH HHS/ -- New York, N.Y. -- Science. 2000 Jul 28;289(5479):619-25.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Public Health Research Institute, 455 First Avenue, New York, NY 10016, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10915625" target="_blank"〉PubMed〈/a〉
    Keywords: Binding Sites ; Cross-Linking Reagents ; Crystallography, X-Ray ; DNA/chemistry/genetics/*metabolism ; DNA Primers ; DNA-Directed RNA Polymerases/*chemistry/genetics/metabolism ; Models, Molecular ; Mutation ; Nucleic Acid Conformation ; Nucleic Acid Hybridization ; Oligodeoxyribonucleotides/chemistry/metabolism ; Oligoribonucleotides/chemistry/metabolism ; Protein Conformation ; Protein Structure, Tertiary ; RNA, Messenger/chemistry/genetics/*metabolism ; Templates, Genetic ; Thermus/enzymology ; *Transcription, Genetic
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    The Drosophila genome sequence: implications for biology and medicine (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2000-03-24
    Description: The 120-megabase euchromatic portion of the Drosophila melanogaster genome has been sequenced. Because the genome is compact and many genetic tools are available, and because fly cell biology and development have much in common with mammals, this sequence may be the Rosetta stone for deciphering the human genome.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Kornberg, T B -- Krasnow, M A -- New York, N.Y. -- Science. 2000 Mar 24;287(5461):2218-20.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Biochemistry and Biophysics, University of California at San Francisco, San Francisco, CA 94143, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10731136" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; *Biology ; Cloning, Molecular ; DNA Transposable Elements ; Drosophila melanogaster/*genetics/physiology ; Genes, Insect ; *Genetics, Medical ; *Genome ; *Genome, Human ; Humans ; Mutation ; Physical Chromosome Mapping ; *Sequence Analysis, DNA
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    Parasitology. Close encounters: good, bad, and ugly (2001)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2001-02-24
    Description: Microbiologists often focus on one organism and its relationship to its host at one point in time. But viewed in light of evolution, host-parasite relationships range from deadly to helpful, depending on the communication between them. At a meeting here last month of virologists, bacteriologists, parasitologists, and molecular biologists--each dealing with different microorganisms in distinct ways--researchers lamented that evolution is often considered outside the bailiwick of microbiologists, particularly those studying infectious diseases.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Pennisi, E -- New York, N.Y. -- Science. 2000 Nov 24;290(5496):1491-3.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11185502" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Bacteria/genetics/*pathogenicity ; Bacterial Infections/microbiology ; *Bacterial Physiological Phenomena ; *Biological Evolution ; Escherichia coli/genetics/pathogenicity/physiology ; *Host-Parasite Interactions ; Humans ; Leishmania/pathogenicity/*physiology ; Leishmaniasis/parasitology ; Mutation ; Rhizobium/physiology ; *Symbiosis ; Virulence
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    Selective inhibition of NF-kappaB activation by a peptide that blocks the interaction of NEMO with the IkappaB kinase complex (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2000-09-01
    Description: Activation of the transcription factor nuclear factor (NF)-kappaB by proinflammatory stimuli leads to increased expression of genes involved in inflammation. Activation of NF-kappaB requires the activity of an inhibitor of kappaB (IkappaB)-kinase (IKK) complex containing two kinases (IKKalpha and IKKbeta) and the regulatory protein NEMO (NF-kappaB essential modifier). An amino-terminal alpha-helical region of NEMO associated with a carboxyl-terminal segment of IKKalpha and IKKbeta that we term the NEMO-binding domain (NBD). A cell-permeable NBD peptide blocked association of NEMO with the IKK complex and inhibited cytokine-induced NF-kappaB activation and NF-kappaB-dependent gene expression. The peptide also ameliorated inflammatory responses in two experimental mouse models of acute inflammation. The NBD provides a target for the development of drugs that would block proinflammatory activation of the IKK complex without inhibiting basal NF-kappaB activity.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉May, M J -- D'Acquisto, F -- Madge, L A -- Glockner, J -- Pober, J S -- Ghosh, S -- AI 33443/AI/NIAID NIH HHS/ -- New York, N.Y. -- Science. 2000 Sep 1;289(5484):1550-4.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Section of Immunobiology and Department of Molecular Biophysics and Biochemistry, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10968790" target="_blank"〉PubMed〈/a〉
    Keywords: Amino Acid Sequence ; Animals ; Anti-Inflammatory Agents, Non-Steroidal/chemistry/pharmacology ; COS Cells ; Cells, Cultured ; E-Selectin/biosynthesis/genetics ; Endothelium, Vascular/metabolism ; Gene Expression Regulation ; HeLa Cells ; Humans ; I-kappa B Kinase ; Inflammation/drug therapy ; Mice ; Mice, Inbred C57BL ; Molecular Sequence Data ; Mutation ; NF-kappa B/*metabolism ; Peptides/chemistry/*pharmacology ; Point Mutation ; Protein Structure, Tertiary ; Protein-Serine-Threonine Kinases/chemistry/genetics/*metabolism ; Recombinant Fusion Proteins/metabolism
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    Techview: computers and biology. Bioinformatics in the information age (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2000-03-11
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Spengler, S J -- New York, N.Y. -- Science. 2000 Feb 18;287(5456):1221, 1223.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Center for Bioinformatics and Computational Genomics, Berkeley, CA 94207, USA. sjspengler@lbl.gov〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10712158" target="_blank"〉PubMed〈/a〉
    Keywords: *Computational Biology/instrumentation/manpower/methods ; Computers ; Genome ; Intellectual Property ; Internet ; Oligonucleotide Array Sequence Analysis ; Proteins/chemistry/genetics/physiology ; Research Support as Topic ; Software
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    Bicoid-independent formation of thoracic segments in Drosophila (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2000-03-31
    Description: The maternal determinant Bicoid (Bcd) represents the paradigm of a morphogen that provides positional information for pattern formation. However, as bicoid seems to be a recently acquired gene in flies, the question was raised as to how embryonic patterning is achieved in organisms with more ancestral modes of development. Because the phylogenetically conserved Hunchback (Hb) protein had previously been shown to act as a morphogen in abdominal patterning, we asked which functions of Bcd could be performed by Hb. By reestablishing a proposed ancient regulatory circuitry in which maternal Hb controls zygotic hunchback expression, we show that Hb is able to form thoracic segments in the absence of Bcd.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Wimmer, E A -- Carleton, A -- Harjes, P -- Turner, T -- Desplan, C -- New York, N.Y. -- Science. 2000 Mar 31;287(5462):2476-9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Lehrstuhl Genetik, Universitat Bayreuth, 95447 Bayreuth, Germany.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10741965" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; *Body Patterning ; DNA-Binding Proteins/genetics/*physiology ; Drosophila/*embryology/genetics ; *Drosophila Proteins ; Embryonic Development ; Female ; Gene Expression Regulation, Developmental ; Genes, Insect ; Homeodomain Proteins/genetics/*physiology ; Insect Proteins/genetics/*physiology ; Male ; Mutation ; Phenotype ; Promoter Regions, Genetic ; Thorax/embryology ; Trans-Activators/genetics/*physiology ; Transcription Factors/genetics/*physiology ; Transgenes ; Zinc Fingers ; Zygote/physiology
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    Screening hCHK2 for mutations (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2000-08-12
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Sodha, N -- Williams, R -- Mangion, J -- Bullock, S L -- Yuille, M R -- Eeles, R A -- New York, N.Y. -- Science. 2000 Jul 21;289(5478):359.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Royal Marsden NHS Trust, Sutton, Surrey SM2 5PT, UK.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10939935" target="_blank"〉PubMed〈/a〉
    Keywords: Checkpoint Kinase 2 ; Chromosomes, Human, Pair 15/genetics ; DNA Mutational Analysis ; Exons ; Gene Duplication ; Genetic Variation ; Humans ; Li-Fraumeni Syndrome/*genetics ; Mutation ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Protein Kinases/*genetics ; *Protein-Serine-Threonine Kinases ; Sequence Homology, Nucleic Acid
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    Genomics. Rat genome off to an early start (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2000-09-09
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Pennisi, E -- New York, N.Y. -- Science. 2000 Aug 25;289(5483):1267-9.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10979842" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Financing, Government ; *Genome ; Human Genome Project ; Humans ; Mice/genetics ; National Institutes of Health (U.S.)/economics ; Rats/*genetics ; Research Support as Topic ; *Sequence Analysis, DNA ; United States
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    Aging, chromatin, and food restriction--connecting the dots (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2000-10-14
    Description: Model organisms such as yeast have proved exceptionally valuable for revealing new information about the molecular pathways involved in the aging of cells. In her Perspective, Campisi comments on new work showing that caloric restriction increases longevity in yeast by activating the SIR2 gene, which alters the compactness of chromatin and thus regulates gene expression (Lin et al.).〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Campisi, J -- New York, N.Y. -- Science. 2000 Sep 22;289(5487):2062-3.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Life Sciences Division, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA. jcampisi@lbl.gov〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11032557" target="_blank"〉PubMed〈/a〉
    Keywords: Aging/*physiology ; Animals ; Cell Division ; Chromatin/*physiology ; DNA Repair ; DNA Replication ; DNA, Circular/metabolism ; DNA, Fungal/metabolism ; DNA, Ribosomal/metabolism ; *Energy Intake ; *Gene Silencing ; Glucose/metabolism ; Histone Deacetylases/genetics/*metabolism ; Histones/metabolism ; Longevity ; Mutation ; NAD/metabolism ; Reactive Oxygen Species/metabolism ; Recombination, Genetic ; Saccharomyces cerevisiae/genetics/*physiology ; *Silent Information Regulator Proteins, Saccharomyces cerevisiae ; Sirtuin 2 ; Sirtuins ; Trans-Activators/genetics/*metabolism
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    Granuloma-specific expression of Mycobacterium virulence proteins from the glycine-rich PE-PGRS family (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2000-05-29
    Description: Pathogenic mycobacteria, including the agent of tuberculosis, Mycobacterium tuberculosis, must replicate in macrophages for long-term persistence within their niche during chronic infection: organized collections of macrophages and lymphocytes called granulomas. We identified several genes preferentially expressed when Mycobacterium marinum, the cause of fish and amphibian tuberculosis, resides in host granulomas and/or macrophages. Two were homologs of M. tuberculosis PE/PE-PGRS genes, a family encoding numerous repetitive glycine-rich proteins of unknown function. Mutation of two PE-PGRS genes produced M. marinum strains incapable of replication in macrophages and with decreased persistence in granulomas. Our results establish a direct role in virulence for some PE-PGRS proteins.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Ramakrishnan, L -- Federspiel, N A -- Falkow, S -- AI 32396/AI/NIAID NIH HHS/ -- K08 AI 01400/AI/NIAID NIH HHS/ -- New York, N.Y. -- Science. 2000 May 26;288(5470):1436-9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Microbiology and Immunology, Stanford University School of Medicine, Stanford, CA 94305, USA. lalitar@cmgm.stanford.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10827956" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Bacterial Proteins/chemistry/*genetics ; Cells, Cultured ; Disease Models, Animal ; Gene Expression Profiling ; Gene Expression Regulation, Bacterial ; Genes, Bacterial ; Glycine/analysis ; Granuloma/*microbiology/pathology ; Humans ; Macrophages/*microbiology ; Mutation ; Mycobacterium Infections, Nontuberculous/*microbiology/pathology ; Mycobacterium marinum/*genetics/growth & development/*pathogenicity ; Mycobacterium tuberculosis/genetics/pathogenicity ; Promoter Regions, Genetic ; Rana pipiens ; Tuberculosis/microbiology ; Virulence
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    Intellectual property. NIH cuts deal on use of OncoMouse (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2000-02-26
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Marshall, E -- New York, N.Y. -- Science. 2000 Jan 28;287(5453):567.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10691532" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Mice ; *Mice, Transgenic ; *National Institutes of Health (U.S.) ; *Neoplasms, Experimental ; *Patents as Topic ; Research Support as Topic ; United States
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  • 84
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    Population genetics. Estonia prepares for national DNA database (2001)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2001-02-24
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Frank, L -- New York, N.Y. -- Science. 2000 Oct 6;290(5489):31.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11183142" target="_blank"〉PubMed〈/a〉
    Keywords: Biotechnology ; Dna ; *Databases, Factual ; Estonia ; *Genetics, Medical ; *Genetics, Population ; Humans ; Informed Consent ; Intellectual Property ; Medical Records Systems, Computerized ; Pilot Projects ; Polymorphism, Single Nucleotide ; Research Support as Topic
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  • 85
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    A niche maintaining germ line stem cells in the Drosophila ovary (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2000-10-13
    Description: Stromal cells are thought to generate specific regulatory microenviroments or "niches" that control stem cell behavior. Characterizing stem cell niches in vivo remains an important goal that has been difficult to achieve. The individual ovarioles of the Drosophila ovary each contain about two germ line stem cells that maintain oocyte production. Here we show that anterior ovariolar somatic cells comprising three cell types act as a germ line stem cell niche. Germ line stem cells lost by normal or induced differentiation are efficiently replaced, and the ability to repopulate the niche increases the functional lifetime of ovarioles in vivo. Our studies implicate one of the somatic cell types, the cap cells, as a key niche component.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Xie, T -- Spradling, A C -- Howard Hughes Medical Institute/ -- New York, N.Y. -- Science. 2000 Oct 13;290(5490):328-30.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Embryology, Howard Hughes Medical Institute, Carnegie Institution of Washington, 115 West University Parkway, Baltimore, MD 21210, USA. tgx@stowers-institute.org〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11030649" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Animals, Genetically Modified ; Cell Communication ; Cell Differentiation ; Drosophila/*cytology/physiology ; Female ; Germ Cells/*cytology/physiology ; Intercellular Junctions/physiology ; Models, Biological ; Mutation ; Oocytes/*cytology/physiology ; Ovary/cytology ; Stem Cells/*cytology/physiology ; Stromal Cells/cytology/physiology ; Transgenes
    Print ISSN: 0036-8075
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    Tech.sight. Genetic testing--present and future (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2000-09-30
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Yan, H -- Kinzler, K W -- Vogelstein, B -- New York, N.Y. -- Science. 2000 Sep 15;289(5486):1890-2.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Howard Hughes Medical Institute and the Johns Hopkins Oncology Center, Baltimore, MD 21231, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11012364" target="_blank"〉PubMed〈/a〉
    Keywords: Genetic Techniques ; *Genetic Testing/methods ; *Genetics, Medical/trends ; Humans ; Mutation ; Sociology
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    A domain in TNF receptors that mediates ligand-independent receptor assembly and signaling (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2000-07-06
    Description: A conserved domain in the extracellular region of the 60- and 80-kilodalton tumor necrosis factor receptors (TNFRs) was identified that mediates specific ligand-independent assembly of receptor trimers. This pre-ligand-binding assembly domain (PLAD) is physically distinct from the domain that forms the major contacts with ligand, but is necessary and sufficient for the assembly of TNFR complexes that bind TNF-alpha and mediate signaling. Other members of the TNFR superfamily, including TRAIL receptor 1 and CD40, show similar homotypic association. Thus, TNFRs and related receptors appear to function as preformed complexes rather than as individual receptor subunits that oligomerize after ligand binding.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Chan, F K -- Chun, H J -- Zheng, L -- Siegel, R M -- Bui, K L -- Lenardo, M J -- New York, N.Y. -- Science. 2000 Jun 30;288(5475):2351-4.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10875917" target="_blank"〉PubMed〈/a〉
    Keywords: Amino Acid Substitution ; Antigens, CD/chemistry/metabolism ; Apoptosis ; Binding Sites ; Cross-Linking Reagents ; Dimerization ; Energy Transfer ; Fluorescence ; Humans ; Ligands ; Macromolecular Substances ; Mutation ; Protein Conformation ; Protein Structure, Tertiary ; Receptors, Tumor Necrosis Factor/*chemistry/*metabolism ; Receptors, Tumor Necrosis Factor, Type I ; Receptors, Tumor Necrosis Factor, Type II ; Recombinant Fusion Proteins/chemistry/metabolism ; *Signal Transduction ; Succinimides ; Tumor Cells, Cultured ; Tumor Necrosis Factor-alpha/*metabolism
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    "Fluorescent timer": protein that changes color with time (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2000-11-25
    Description: We generated a mutant of the red fluorescent protein drFP583. The mutant (E5) changes its fluorescence from green to red over time. The rate of color conversion is independent of protein concentration and therefore can be used to trace time-dependent expression. We used in vivo labeling with E5 to measure expression from the heat shock-dependent promoter in Caenorhabditis elegans and from the Otx-2 promoter in developing Xenopus embryos. Thus, E5 is a "fluorescent timer" that can be used to monitor both activation and down-regulation of target promoters on the whole-organism scale.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Terskikh, A -- Fradkov, A -- Ermakova, G -- Zaraisky, A -- Tan, P -- Kajava, A V -- Zhao, X -- Lukyanov, S -- Matz, M -- Kim, S -- Weissman, I -- Siebert, P -- 1 RO3 TW01362-01/TW/FIC NIH HHS/ -- New York, N.Y. -- Science. 2000 Nov 24;290(5496):1585-8.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉School of Medicine, Stanford University, Stanford, CA 94305, USA. Alexey.Terskikh@Stanford.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11090358" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Brain/embryology/metabolism ; Caenorhabditis elegans/embryology/genetics ; Cell Line ; Color ; Fluorescence ; Gene Expression Profiling/*methods ; *Gene Expression Regulation ; Gene Expression Regulation, Developmental ; Heat-Shock Proteins/genetics ; *Homeodomain Proteins ; Humans ; Luminescent Proteins/*chemistry/*genetics/metabolism ; Mutation ; Nerve Tissue Proteins/genetics ; Otx Transcription Factors ; *Promoter Regions, Genetic ; Temperature ; Time Factors ; Trans-Activators/genetics ; Xenopus laevis/embryology
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    Complete genome sequence of Neisseria meningitidis serogroup B strain MC58 (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2000-03-10
    Description: The 2,272,351-base pair genome of Neisseria meningitidis strain MC58 (serogroup B), a causative agent of meningitis and septicemia, contains 2158 predicted coding regions, 1158 (53.7%) of which were assigned a biological role. Three major islands of horizontal DNA transfer were identified; two of these contain genes encoding proteins involved in pathogenicity, and the third island contains coding sequences only for hypothetical proteins. Insights into the commensal and virulence behavior of N. meningitidis can be gleaned from the genome, in which sequences for structural proteins of the pilus are clustered and several coding regions unique to serogroup B capsular polysaccharide synthesis can be identified. Finally, N. meningitidis contains more genes that undergo phase variation than any pathogen studied to date, a mechanism that controls their expression and contributes to the evasion of the host immune system.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Tettelin, H -- Saunders, N J -- Heidelberg, J -- Jeffries, A C -- Nelson, K E -- Eisen, J A -- Ketchum, K A -- Hood, D W -- Peden, J F -- Dodson, R J -- Nelson, W C -- Gwinn, M L -- DeBoy, R -- Peterson, J D -- Hickey, E K -- Haft, D H -- Salzberg, S L -- White, O -- Fleischmann, R D -- Dougherty, B A -- Mason, T -- Ciecko, A -- Parksey, D S -- Blair, E -- Cittone, H -- Clark, E B -- Cotton, M D -- Utterback, T R -- Khouri, H -- Qin, H -- Vamathevan, J -- Gill, J -- Scarlato, V -- Masignani, V -- Pizza, M -- Grandi, G -- Sun, L -- Smith, H O -- Fraser, C M -- Moxon, E R -- Rappuoli, R -- Venter, J C -- New York, N.Y. -- Science. 2000 Mar 10;287(5459):1809-15.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉The Institute for Genomic Research (TIGR), 9712 Medical Center Drive, Rockville, MD 20850, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10710307" target="_blank"〉PubMed〈/a〉
    Keywords: Antigenic Variation ; Antigens, Bacterial/immunology ; Bacteremia/microbiology ; Bacterial Capsules/genetics ; Bacterial Proteins/genetics/physiology ; DNA Transposable Elements ; Evolution, Molecular ; Fimbriae, Bacterial/genetics ; *Genome, Bacterial ; Humans ; Meningitis, Meningococcal/microbiology ; Meningococcal Infections/microbiology ; Molecular Sequence Data ; Mutation ; Neisseria meningitidis/classification/*genetics/*pathogenicity/physiology ; Open Reading Frames ; Operon ; Phylogeny ; Recombination, Genetic ; *Sequence Analysis, DNA ; Serotyping ; Transformation, Bacterial ; Virulence/genetics
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    AIDS research. Vaccine studies stymied by shortage of animals (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2000-02-26
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Cohen, J -- New York, N.Y. -- Science. 2000 Feb 11;287(5455):959-60.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10691568" target="_blank"〉PubMed〈/a〉
    Keywords: *AIDS Vaccines ; *Acquired Immunodeficiency Syndrome ; *Animal Experimentation ; Animals ; Breeding ; Costs and Cost Analysis ; Housing, Animal ; India ; *Macaca mulatta ; National Institutes of Health (U.S.) ; *Research ; Research Support as Topic ; Simian Acquired Immunodeficiency Syndrome ; Specific Pathogen-Free Organisms ; United States
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    Development. Survival is impossible without an editor (2001)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2001-02-24
    Description: RNA editing is a fascinating phenomenon that is found in both animal and plant cells. By converting an adenosine base to an inosine (which behaves like guanosine) in RNA that has already been transcribed, certain RNA sequences (and hence the amino acids they encode) are altered. In a Perspective, Keegan, Gallo and O'Connell explore new results showing that activity of the editing enzyme ADAR1 is crucial for normal development of red blood cells in mouse embryos.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Keegan, L P -- Gallo, A -- O'Connell, M A -- New York, N.Y. -- Science. 2000 Dec 1;290(5497):1707-9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK. liam.keegan@hgu.mrc.ac.uk〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11186391" target="_blank"〉PubMed〈/a〉
    Keywords: Adenosine/metabolism ; Adenosine Deaminase/chemistry/*genetics/*metabolism ; Animals ; Base Pairing ; Central Nervous System/metabolism ; Chimera ; Drosophila/genetics/metabolism ; Embryo, Mammalian/cytology ; Embryo, Nonmammalian ; *Erythropoiesis ; Gene Dosage ; Hematopoietic Stem Cells/cytology/enzymology ; Inosine/metabolism ; Liver/metabolism ; Mice ; Mutation ; Phenotype ; Protein Structure, Tertiary ; *RNA Editing ; RNA Precursors/metabolism ; RNA, Double-Stranded/metabolism ; RNA-Binding Proteins ; Receptors, AMPA/genetics ; Stem Cells/cytology/enzymology ; Teratoma/genetics/pathology
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  • 92
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    CikA, a bacteriophytochrome that resets the cyanobacterial circadian clock (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2000-08-05
    Description: The circadian oscillator of the cyanobacterium Synechococcus elongatus, like those in eukaryotes, is entrained by environmental cues. Inactivation of the gene cikA (circadian input kinase) shortens the circadian period of gene expression rhythms in S. elongatus by approximately 2 hours, changes the phasing of a subset of rhythms, and nearly abolishes resetting of phase by a pulse of darkness. The CikA protein sequence reveals that it is a divergent bacteriophytochrome with characteristic histidine protein kinase motifs and a cryptic response regulator motif. CikA is likely a key component of a pathway that provides environmental input to the circadian oscillator in S. elongatus.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Schmitz, O -- Katayama, M -- Williams, S B -- Kondo, T -- Golden, S S -- GM37040/GM/NIGMS NIH HHS/ -- New York, N.Y. -- Science. 2000 Aug 4;289(5480):765-8.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Biology, Texas A&M University, College Station, TX 77843-3258, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10926536" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Amino Acid Motifs ; Amino Acid Sequence ; *Bacterial Proteins ; *Biological Clocks/genetics/physiology ; *Circadian Rhythm/genetics/physiology ; Cyanobacteria/genetics/*physiology ; Gene Expression Regulation, Bacterial ; Genes, Bacterial ; Genes, Reporter ; Luminescent Measurements ; Molecular Sequence Data ; Mutation ; Phenotype ; Protein Kinases/chemistry/*genetics/physiology ; Sequence Alignment
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    Two cheers for new stem cell rules (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2000-09-19
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Kennedy, D -- New York, N.Y. -- Science. 2000 Sep 1;289(5484):1469.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10991729" target="_blank"〉PubMed〈/a〉
    Keywords: Bioethics ; Cell Line ; Embryo, Mammalian/*cytology ; *Guidelines as Topic ; Humans ; *National Institutes of Health (U.S.) ; Politics ; *Research/legislation & jurisprudence ; Research Support as Topic ; *Stem Cells ; United States
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    Taiwan. Researchers say new institutes offer them a chance 'to do good science' (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2000-06-08
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Normile, D -- New York, N.Y. -- Science. 2000 May 19;288(5469):1165.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10841732" target="_blank"〉PubMed〈/a〉
    Keywords: *Academies and Institutes/economics ; Animals ; Astronomical Phenomena ; Astronomy ; Chloroplasts/genetics ; Drosophila/genetics ; Interferometry ; *Molecular Biology/economics ; Physical Phenomena ; Physics ; *Research/economics ; Research Support as Topic ; Taiwan
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  • 95
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    Infectious diseases. China awakens to fight projected AIDS crisis (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2000-08-05
    Description: Official tallies count only 670 confirmed AIDS cases and 18,143 confirmed HIV-infected people among China's 1.2 billion population. Now changing social mores, including an increase in drug use and a boom in commercial sex, combined with a tainted blood supply, have led China to the brink of an AIDS explosion. But its historic isolation also gives the country an advantage in testing the latest vaccines, as the different strains of HIV have not yet commingled there; China's well-developed public health infrastructure could also help facilitate clinical trials.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Normile, D -- New York, N.Y. -- Science. 2000 Jun 30;288(5475):2312-3.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10917825" target="_blank"〉PubMed〈/a〉
    Keywords: AIDS Vaccines ; *Acquired Immunodeficiency Syndrome/economics/epidemiology/prevention & control ; China/epidemiology ; Clinical Trials as Topic ; Disease Outbreaks ; Humans ; Prostitution ; Public Health/education ; Research ; Research Support as Topic ; Sexually Transmitted Diseases/epidemiology ; Substance Abuse, Intravenous/epidemiology
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    Structure of yeast poly(A) polymerase alone and in complex with 3'-dATP (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2000-08-26
    Description: Polyadenylate [poly(A)] polymerase (PAP) catalyzes the addition of a polyadenosine tail to almost all eukaryotic messenger RNAs (mRNAs). The crystal structure of the PAP from Saccharomyces cerevisiae (Pap1) has been solved to 2.6 angstroms, both alone and in complex with 3'-deoxyadenosine triphosphate (3'-dATP). Like other nucleic acid polymerases, Pap1 is composed of three domains that encircle the active site. The arrangement of these domains, however, is quite different from that seen in polymerases that use a template to select and position their incoming nucleotides. The first two domains are functionally analogous to polymerase palm and fingers domains. The third domain is attached to the fingers domain and is known to interact with the single-stranded RNA primer. In the nucleotide complex, two molecules of 3'-dATP are bound to Pap1. One occupies the position of the incoming base, prior to its addition to the mRNA chain. The other is believed to occupy the position of the 3' end of the mRNA primer.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Bard, J -- Zhelkovsky, A M -- Helmling, S -- Earnest, T N -- Moore, C L -- Bohm, A -- R01 GM57218-01A2/GM/NIGMS NIH HHS/ -- New York, N.Y. -- Science. 2000 Aug 25;289(5483):1346-9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Boston Biomedical Research Institute, 64 Grove Street, Watertown, MA 02472, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10958780" target="_blank"〉PubMed〈/a〉
    Keywords: Binding Sites ; Catalytic Domain ; Crystallography, X-Ray ; Deoxyadenine Nucleotides/*chemistry/*metabolism ; Hydrogen Bonding ; Manganese/metabolism ; Models, Molecular ; Mutation ; Polynucleotide Adenylyltransferase/*chemistry/genetics/*metabolism ; Protein Conformation ; Protein Structure, Secondary ; Protein Structure, Tertiary ; RNA/metabolism ; RNA, Messenger/metabolism ; Ribosomal Protein S6 ; Ribosomal Proteins/chemistry/metabolism ; Saccharomyces cerevisiae/*enzymology
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 97
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    Biochemical basis of oxidative protein folding in the endoplasmic reticulum (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2000-11-25
    Description: The endoplasmic reticulum (ER) supports disulfide bond formation by a poorly understood mechanism requiring protein disulfide isomerase (PDI) and ERO1. In yeast, Ero1p-mediated oxidative folding was shown to depend on cellular flavin adenine dinucleotide (FAD) levels but not on ubiquinone or heme, and Ero1p was shown to be a FAD-binding protein. We reconstituted efficient oxidative folding in vitro using FAD, PDI, and Ero1p. Disulfide formation proceeded by direct delivery of oxidizing equivalents from Ero1p to folding substrates via PDI. This kinetic shuttling of oxidizing equivalents could allow the ER to support rapid disulfide formation while maintaining the ability to reduce and rearrange incorrect disulfide bonds.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Tu, B P -- Ho-Schleyer, S C -- Travers, K J -- Weissman, J S -- New York, N.Y. -- Science. 2000 Nov 24;290(5496):1571-4.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Howard Hughes Medical Institute, Department of Cellular and Molecular Pharmacology, University of California, San Francisco, CA 94143, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11090354" target="_blank"〉PubMed〈/a〉
    Keywords: Binding Sites ; Carboxypeptidases/chemistry/metabolism ; Cathepsin A ; Chemistry, Physical ; Disulfides/chemistry ; Endoplasmic Reticulum/*metabolism ; Flavin-Adenine Dinucleotide/*metabolism ; Glutathione/metabolism ; Glycoproteins/*metabolism ; Microsomes/metabolism ; Mutation ; Oxidation-Reduction ; Oxidoreductases Acting on Sulfur Group Donors ; Physicochemical Phenomena ; Protein Disulfide-Isomerases/genetics/*metabolism ; *Protein Folding ; Ribonuclease, Pancreatic/chemistry/metabolism ; Saccharomyces cerevisiae/metabolism ; *Saccharomyces cerevisiae Proteins
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 98
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    Science policy. Clinton's science legacy: ending on a high note (2001)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2001-02-24
    Description: Once perceived to be at best ambivalent about science policy, President Bill Clinton is now credited with steering the U.S. government's $80-billion-plus R&D enterprise through one of its most perilous and productive decades. Along the way, supporters say, Clinton and his science-savvy vice president, Al Gore, have won respect from researchers. Although the reviews are not uniformly good, even critics agree that Clinton's term is ending on a much higher note for science than what many initially expected from the former Arkansas governor.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Malakoff, D -- New York, N.Y. -- Science. 2000 Dec 22;290(5500):2234-6.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11188713" target="_blank"〉PubMed〈/a〉
    Keywords: Budgets ; Government Agencies/economics ; National Institutes of Health (U.S.)/economics ; *Politics ; *Public Policy ; *Research ; Research Support as Topic ; *Science ; United States
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 99
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    Signal transduction. Are there close encounters between signaling pathways? (2001)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2001-02-24
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Noselli, S -- Perrimon, N -- New York, N.Y. -- Science. 2000 Oct 6;290(5489):68-9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Institut de Recherches, UMR 65643-CNRS, Parc Valrose 06108, Nice cedex 2 France. noselli@unice.fr〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11183153" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Drosophila/genetics/metabolism ; Gene Expression Profiling ; Humans ; Mutation ; Neoplasms/genetics/metabolism ; Phenotype ; *Receptor Cross-Talk ; *Signal Transduction
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 100
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    Circadian rhythms. Two feedback loops run mammalian clock (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2000-06-08
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Barinaga, M -- New York, N.Y. -- Science. 2000 May 12;288(5468):943-4.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10841707" target="_blank"〉PubMed〈/a〉
    Keywords: ARNTL Transcription Factors ; Animals ; Basic Helix-Loop-Helix Transcription Factors ; Biological Clocks/genetics/*physiology ; CLOCK Proteins ; Cell Cycle Proteins ; Cell Nucleus/metabolism ; Circadian Rhythm/genetics/*physiology ; Cryptochromes ; Drosophila/metabolism ; *Drosophila Proteins ; *Eye Proteins ; Feedback ; Flavoproteins/genetics/*metabolism ; *Gene Expression Regulation ; Mice ; Mutation ; Nuclear Proteins/genetics/*metabolism ; Period Circadian Proteins ; *Photoreceptor Cells, Invertebrate ; Receptors, G-Protein-Coupled ; Trans-Activators/genetics/metabolism ; Transcription Factors/genetics/*metabolism
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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