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  • Humans  (1,274)
  • Astrophysics  (417)
  • Instrumentation and Photography  (329)
  • 2000-2004  (2,020)
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  • 11
    Publication Date: 2001-09-07
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Czeisler, C A -- Dijk, D J -- Kronauer, R E -- Brown, E N -- Duffy, J F -- Allan, J S -- Shanahan, T L -- Rimmer, D W -- Ronda, J M -- Mitchell, J F -- Silva, E J -- Emens, J S -- New York, N.Y. -- Science. 2000 May 19;288(5469):1174-5.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Circadian, Neuroendocrine, and Sleep Disorders Section, Division of Endocrinology, Department of Medicine, Harvard Medical School, Brigham and Women's Hospital, Boston, MA 02115, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11536927" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Biological Clocks/genetics/*physiology ; Chronobiology Phenomena ; Circadian Rhythm/genetics/*physiology ; Darkness ; Humans ; Sleep
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    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 12
    Publication Date: 2001-07-14
    Description: Variation within genes has important implications for all biological traits. We identified 3899 single nucleotide polymorphisms (SNPs) that were present within 313 genes from 82 unrelated individuals of diverse ancestry, and we organized the SNPs into 4304 different haplotypes. Each gene had several variable SNPs and haplotypes that were present in all populations, as well as a number that were population-specific. Pairs of SNPs exhibited variability in the degree of linkage disequilibrium that was a function of their location within a gene, distance from each other, population distribution, and population frequency. Haplotypes generally had more information content (heterozygosity) than did individual SNPs. Our analysis of the pattern of variation strongly supports the recent expansion of the human population.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Stephens, J C -- Schneider, J A -- Tanguay, D A -- Choi, J -- Acharya, T -- Stanley, S E -- Jiang, R -- Messer, C J -- Chew, A -- Han, J H -- Duan, J -- Carr, J L -- Lee, M S -- Koshy, B -- Kumar, A M -- Zhang, G -- Newell, W R -- Windemuth, A -- Xu, C -- Kalbfleisch, T S -- Shaner, S L -- Arnold, K -- Schulz, V -- Drysdale, C M -- Nandabalan, K -- Judson, R S -- Ruano, G -- Vovis, G F -- New York, N.Y. -- Science. 2001 Jul 20;293(5529):489-93. Epub 2001 Jul 12.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Genaissance Pharmaceuticals, Inc., Five Science Park, New Haven, CT 06511, USA. c.stephens@genaissance.com〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11452081" target="_blank"〉PubMed〈/a〉
    Keywords: African Continental Ancestry Group/genetics ; Alleles ; Animals ; Asian Continental Ancestry Group/genetics ; Dinucleoside Phosphates/genetics ; European Continental Ancestry Group/genetics ; Evolution, Molecular ; Female ; *Genetic Variation ; *Haplotypes ; Heterozygote ; Hispanic Americans/genetics ; Humans ; *Linkage Disequilibrium ; Male ; Mutation ; Pan troglodytes/genetics ; *Polymorphism, Single Nucleotide ; X Chromosome/genetics
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    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 13
    Publication Date: 2003-02-22
    Description: Excavation in the previously little-explored western portion of Olduvai Gorge indicates that hominid land use of the eastern paleobasin extended at least episodically to the west. Finds included a dentally complete Homo maxilla (OH 65) with lower face, Oldowan stone artifacts, and butchery-marked bones dated to be between 1.84 and 1.79 million years old. The hominid shows strong affinities to the KNM ER 1470 cranium from Kenya (Homo rudolfensis), a morphotype previously unrecognized at Olduvai. ER 1470 and OH 65 can be accommodated in the H. habilis holotype, casting doubt on H. rudolfensis as a biologically valid taxon.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Blumenschine, Robert J -- Peters, Charles R -- Masao, Fidelis T -- Clarke, Ronald J -- Deino, Alan L -- Hay, Richard L -- Swisher, Carl C -- Stanistreet, Ian G -- Ashley, Gail M -- McHenry, Lindsay J -- Sikes, Nancy E -- Van Der Merwe, Nikolaas J -- Tactikos, Joanne C -- Cushing, Amy E -- Deocampo, Daniel M -- Njau, Jackson K -- Ebert, James I -- New York, N.Y. -- Science. 2003 Feb 21;299(5610):1217-21.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Center for Human Evolutionary Studies, Department of Anthropology, 131 George Street, Rutgers University, New Brunswick, NJ 08901-1414, USA. rjb@rci.rutgers.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12595689" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Dentition ; Environment ; Facial Bones/anatomy & histology ; *Fossils ; *Hominidae/anatomy & histology/classification ; Humans ; Life Style ; Mandible/anatomy & histology ; Maxilla/anatomy & histology ; Paleodontology ; Paleontology ; Seasons ; Skull/anatomy & histology ; Tanzania ; Terminology as Topic ; Tooth/anatomy & histology
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    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 14
    Publication Date: 2003-03-29
    Description: The complete genome sequence of Enterococcus faecalis V583, a vancomycin-resistant clinical isolate, revealed that more than a quarter of the genome consists of probable mobile or foreign DNA. One of the predicted mobile elements is a previously unknown vanB vancomycin-resistance conjugative transposon. Three plasmids were identified, including two pheromone-sensing conjugative plasmids, one encoding a previously undescribed pheromone inhibitor. The apparent propensity for the incorporation of mobile elements probably contributed to the rapid acquisition and dissemination of drug resistance in the enterococci.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Paulsen, I T -- Banerjei, L -- Myers, G S A -- Nelson, K E -- Seshadri, R -- Read, T D -- Fouts, D E -- Eisen, J A -- Gill, S R -- Heidelberg, J F -- Tettelin, H -- Dodson, R J -- Umayam, L -- Brinkac, L -- Beanan, M -- Daugherty, S -- DeBoy, R T -- Durkin, S -- Kolonay, J -- Madupu, R -- Nelson, W -- Vamathevan, J -- Tran, B -- Upton, J -- Hansen, T -- Shetty, J -- Khouri, H -- Utterback, T -- Radune, D -- Ketchum, K A -- Dougherty, B A -- Fraser, C M -- AI40963-02/AI/NIAID NIH HHS/ -- New York, N.Y. -- Science. 2003 Mar 28;299(5615):2071-4.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Institute for Genomic Research, 9712 Medical Center Drive, Rockville, MD 20850, USA. ipaulsen@tigr.org〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12663927" target="_blank"〉PubMed〈/a〉
    Keywords: Adhesins, Bacterial/genetics ; Bacterial Adhesion ; Bacterial Proteins/genetics ; *Biological Evolution ; Carrier Proteins/genetics/metabolism ; Chromosomes, Bacterial/genetics ; Conjugation, Genetic ; Conserved Sequence ; DNA Transposable Elements ; Digestive System/microbiology ; Drug Resistance, Multiple, Bacterial ; Enterococcus faecalis/drug effects/*genetics/pathogenicity/physiology ; Gene Transfer, Horizontal ; *Genome, Bacterial ; Gram-Positive Bacterial Infections/microbiology ; Humans ; *Interspersed Repetitive Sequences ; Lysogeny ; Open Reading Frames ; Oxidative Stress ; Plasmids ; *Sequence Analysis, DNA ; Synteny ; Vancomycin Resistance/*genetics ; Virulence/genetics ; Virulence Factors/genetics
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    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 15
    Publication Date: 2002-09-21
    Description: Persons with the autosomal recessive disorder Bloom syndrome are predisposed to cancers of many types due to loss-of-function mutations in the BLM gene, which encodes a recQ-like helicase. Here we show that mice heterozygous for a targeted null mutation of Blm, the murine homolog of BLM, develop lymphoma earlier than wild-type littermates in response to challenge with murine leukemia virus and develop twice the number of intestinal tumors when crossed with mice carrying a mutation in the Apc tumor suppressor. These observations indicate that Blm is a modifier of tumor formation in the mouse and that Blm haploinsufficiency is associated with tumor predisposition, a finding with important implications for cancer risk in humans.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Goss, Kathleen Heppner -- Risinger, Mary A -- Kordich, Jennifer J -- Sanz, Maureen M -- Straughen, Joel E -- Slovek, Lisa E -- Capobianco, Anthony J -- German, James -- Boivin, Gregory P -- Groden, Joanna -- CA63507/CA/NCI NIH HHS/ -- CA84291/CA/NCI NIH HHS/ -- CA88460/CA/NCI NIH HHS/ -- ES06096/ES/NIEHS NIH HHS/ -- New York, N.Y. -- Science. 2002 Sep 20;297(5589):2051-3.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Department of Molecular Genetics, University of Cincinnati College of Medicine, 231 Albert Sabin Way, Cincinnati, OH 45267, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12242442" target="_blank"〉PubMed〈/a〉
    Keywords: Adenoma/genetics/pathology ; Adenosine Triphosphatases/*genetics ; Alleles ; Animals ; Bloom Syndrome/*genetics ; Cells, Cultured ; Crosses, Genetic ; DNA Helicases/*genetics ; Female ; Gene Targeting ; Genes, APC ; *Genetic Predisposition to Disease ; *Heterozygote ; Humans ; Intestinal Neoplasms/*genetics/pathology ; Leukemia Virus, Murine ; Loss of Heterozygosity ; Lymphoma, T-Cell/*genetics/virology ; Male ; Mice ; Mice, Inbred C57BL ; Mutation ; RecQ Helicases ; Sister Chromatid Exchange
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    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 16
    Publication Date: 2000-01-05
    Description: The hCHK2 gene encodes the human homolog of the yeast Cds1 and Rad53 G2 checkpoint kinases, whose activation in response to DNA damage prevents cellular entry into mitosis. Here, it is shown that heterozygous germ line mutations in hCHK2 occur in Li-Fraumeni syndrome, a highly penetrant familial cancer phenotype usually associated with inherited mutations in the TP53 gene. These observations suggest that hCHK2 is a tumor suppressor gene conferring predisposition to sarcoma, breast cancer, and brain tumors, and they also provide a link between the central role of p53 inactivation in human cancer and the well-defined G2 checkpoint in yeast.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Bell, D W -- Varley, J M -- Szydlo, T E -- Kang, D H -- Wahrer, D C -- Shannon, K E -- Lubratovich, M -- Verselis, S J -- Isselbacher, K J -- Fraumeni, J F -- Birch, J M -- Li, F P -- Garber, J E -- Haber, D A -- New York, N.Y. -- Science. 1999 Dec 24;286(5449):2528-31.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Massachusetts General Hospital Center for Cancer Risk Analysis and Harvard Medical School, Building 149, Charlestown, MA 02129, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10617473" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Apoptosis ; Brain Neoplasms/genetics ; Breast Neoplasms/genetics ; Checkpoint Kinase 2 ; Female ; G1 Phase ; *G2 Phase ; *Genes, Tumor Suppressor ; Genes, p53 ; Genetic Predisposition to Disease ; *Germ-Line Mutation ; Heterozygote ; Humans ; Li-Fraumeni Syndrome/enzymology/*genetics/pathology ; Male ; Pedigree ; Polymorphism, Genetic ; Protein Kinases/genetics ; Protein-Serine-Threonine Kinases/*genetics/metabolism ; Sarcoma/genetics ; Signal Transduction ; Tumor Cells, Cultured
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    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 17
    Publication Date: 2000-12-23
    Description: The apolipoprotein E (APOE) gene is the only genetic risk factor that has so far been linked to risk for late-onset Alzheimer's disease (LOAD). However, 50 percent of Alzheimer's disease cases do not carry an APOE4 allele, suggesting that other risk factors must exist. We performed a two-stage genome-wide screen in sibling pairs with LOAD to detect other susceptibility loci. Here we report evidence for an Alzheimer's disease locus on chromosome 10. Our stage one multipoint lod score (logarithm of the odds ratio for linkage/no linkage) of 2.48 (266 sibling pairs) increased to 3.83 in stage 2 (429 sibling pairs) close to D10S1225 (79 centimorgans). This locus modifies risk for Alzheimer's disease independent of APOE genotype.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Myers, A -- Holmans, P -- Marshall, H -- Kwon, J -- Meyer, D -- Ramic, D -- Shears, S -- Booth, J -- DeVrieze, F W -- Crook, R -- Hamshere, M -- Abraham, R -- Tunstall, N -- Rice, F -- Carty, S -- Lillystone, S -- Kehoe, P -- Rudrasingham, V -- Jones, L -- Lovestone, S -- Perez-Tur, J -- Williams, J -- Owen, M J -- Hardy, J -- Goate, A M -- AG16208/AG/NIA NIH HHS/ -- AG5681/AG/NIA NIH HHS/ -- U24 AG021886/AG/NIA NIH HHS/ -- New York, N.Y. -- Science. 2000 Dec 22;290(5500):2304-5.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Psychiatry, Washington University School of Medicine, 660 S. Euclid, St. Louis, MO 63110, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11125144" target="_blank"〉PubMed〈/a〉
    Keywords: Age of Onset ; Aged ; Alleles ; Alzheimer Disease/*genetics ; Apolipoprotein E4 ; Apolipoproteins E/genetics ; Chromosomes, Human, Pair 10/*genetics ; Genetic Linkage ; Genetic Markers ; *Genetic Predisposition to Disease ; Genotype ; Humans ; Lod Score ; Nuclear Family ; Odds Ratio
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  • 18
    Publication Date: 2001-07-28
    Description: Ecological extinction caused by overfishing precedes all other pervasive human disturbance to coastal ecosystems, including pollution, degradation of water quality, and anthropogenic climate change. Historical abundances of large consumer species were fantastically large in comparison with recent observations. Paleoecological, archaeological, and historical data show that time lags of decades to centuries occurred between the onset of overfishing and consequent changes in ecological communities, because unfished species of similar trophic level assumed the ecological roles of overfished species until they too were overfished or died of epidemic diseases related to overcrowding. Retrospective data not only help to clarify underlying causes and rates of ecological change, but they also demonstrate achievable goals for restoration and management of coastal ecosystems that could not even be contemplated based on the limited perspective of recent observations alone.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Jackson, J B -- Kirby, M X -- Berger, W H -- Bjorndal, K A -- Botsford, L W -- Bourque, B J -- Bradbury, R H -- Cooke, R -- Erlandson, J -- Estes, J A -- Hughes, T P -- Kidwell, S -- Lange, C B -- Lenihan, H S -- Pandolfi, J M -- Peterson, C H -- Steneck, R S -- Tegner, M J -- Warner, R R -- New York, N.Y. -- Science. 2001 Jul 27;293(5530):629-37.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Scripps Institution of Oceanography, University of California, San Diego, La Jolla, CA 92093-0244, USA. jbcj@ucsd.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11474098" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Archaeology ; Bacteria ; Cnidaria ; Conservation of Natural Resources ; *Ecosystem ; Eutrophication ; *Fishes ; Geologic Sediments ; Humans ; *Marine Biology ; Seaweed ; Shellfish ; Time Factors
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  • 19
    Publication Date: 2000-05-29
    Description: A paramyxovirus virus termed Nipah virus has been identified as the etiologic agent of an outbreak of severe encephalitis in people with close contact exposure to pigs in Malaysia and Singapore. The outbreak was first noted in late September 1998 and by mid-June 1999, more than 265 encephalitis cases, including 105 deaths, had been reported in Malaysia, and 11 cases of encephalitis or respiratory illness with one death had been reported in Singapore. Electron microscopic, serologic, and genetic studies indicate that this virus belongs to the family Paramyxoviridae and is most closely related to the recently discovered Hendra virus. We suggest that these two viruses are representative of a new genus within the family Paramyxoviridae. Like Hendra virus, Nipah virus is unusual among the paramyxoviruses in its ability to infect and cause potentially fatal disease in a number of host species, including humans.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Chua, K B -- Bellini, W J -- Rota, P A -- Harcourt, B H -- Tamin, A -- Lam, S K -- Ksiazek, T G -- Rollin, P E -- Zaki, S R -- Shieh, W -- Goldsmith, C S -- Gubler, D J -- Roehrig, J T -- Eaton, B -- Gould, A R -- Olson, J -- Field, H -- Daniels, P -- Ling, A E -- Peters, C J -- Anderson, L J -- Mahy, B W -- New York, N.Y. -- Science. 2000 May 26;288(5470):1432-5.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Medical Microbiology, University of Malaya Medical Center, 50603 Kuala Lumpur, Malaysia.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10827955" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Antibodies, Viral/blood ; Disease Outbreaks ; Encephalitis, Viral/epidemiology/*virology ; Endothelium, Vascular/pathology/virology ; Genes, Viral ; Giant Cells/pathology/virology ; Humans ; Malaysia/epidemiology ; Microscopy, Electron ; Molecular Sequence Data ; Nucleocapsid/ultrastructure ; Paramyxoviridae Infections/*epidemiology/transmission/veterinary/*virology ; *Paramyxovirinae/classification/genetics/isolation & purification/ultrastructure ; Phylogeny ; Respiratory System/virology ; Respiratory Tract Infections/epidemiology/veterinary/virology ; Sequence Analysis, DNA ; Singapore/epidemiology ; Swine ; Swine Diseases/epidemiology/virology ; Vasculitis/virology ; Viral Proteins/genetics
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  • 20
    Publication Date: 2000-03-24
    Description: A comparative analysis of the genomes of Drosophila melanogaster, Caenorhabditis elegans, and Saccharomyces cerevisiae-and the proteins they are predicted to encode-was undertaken in the context of cellular, developmental, and evolutionary processes. The nonredundant protein sets of flies and worms are similar in size and are only twice that of yeast, but different gene families are expanded in each genome, and the multidomain proteins and signaling pathways of the fly and worm are far more complex than those of yeast. The fly has orthologs to 177 of the 289 human disease genes examined and provides the foundation for rapid analysis of some of the basic processes involved in human disease.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2754258/" 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/PMC2754258/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Rubin, G M -- Yandell, M D -- Wortman, J R -- Gabor Miklos, G L -- Nelson, C R -- Hariharan, I K -- Fortini, M E -- Li, P W -- Apweiler, R -- Fleischmann, W -- Cherry, J M -- Henikoff, S -- Skupski, M P -- Misra, S -- Ashburner, M -- Birney, E -- Boguski, M S -- Brody, T -- Brokstein, P -- Celniker, S E -- Chervitz, S A -- Coates, D -- Cravchik, A -- Gabrielian, A -- Galle, R F -- Gelbart, W M -- George, R A -- Goldstein, L S -- Gong, F -- Guan, P -- Harris, N L -- Hay, B A -- Hoskins, R A -- Li, J -- Li, Z -- Hynes, R O -- Jones, S J -- Kuehl, P M -- Lemaitre, B -- Littleton, J T -- Morrison, D K -- Mungall, C -- O'Farrell, P H -- Pickeral, O K -- Shue, C -- Vosshall, L B -- Zhang, J -- Zhao, Q -- Zheng, X H -- Lewis, S -- P4IHG00739/HG/NHGRI NIH HHS/ -- P50HG00750/HG/NHGRI NIH HHS/ -- R01 GM037193/GM/NIGMS NIH HHS/ -- R01 GM037193-14/GM/NIGMS NIH HHS/ -- R01 GM037193-15/GM/NIGMS NIH HHS/ -- R01 GM060988/GM/NIGMS NIH HHS/ -- R01 GM060988-01/GM/NIGMS NIH HHS/ -- R01 NS040296/NS/NINDS NIH HHS/ -- R01 NS040296-01/NS/NINDS NIH HHS/ -- New York, N.Y. -- Science. 2000 Mar 24;287(5461):2204-15.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Howard Hughes Medical Institute, Department of Molecular and Cell Biology, Berkeley Drosophila Genome Project, University of California, Berkeley, CA 94720, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10731134" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Apoptosis/genetics ; Biological Evolution ; Caenorhabditis elegans/chemistry/*genetics/physiology ; Cell Adhesion/genetics ; Cell Cycle/genetics ; Drosophila melanogaster/chemistry/*genetics/physiology ; Fungal Proteins/chemistry/genetics ; Genes, Duplicate ; Genetic Diseases, Inborn/genetics ; Genetics, Medical ; *Genome ; Helminth Proteins/chemistry/genetics ; Humans ; Immunity/genetics ; Insect Proteins/chemistry/genetics ; Multigene Family ; Neoplasms/genetics ; Protein Structure, Tertiary ; *Proteome ; Saccharomyces cerevisiae/chemistry/*genetics/physiology ; Signal Transduction/genetics
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    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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