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1

Digitale Medien

Mutation of the ST7 tumor suppressor gene on 7q31.1 is rare in breast, ovarian and colorectal cancers (2001)

Thomas, Nicola A. ; Choong, David Y.H. ; Jokubaitis, Venta J. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 379-380

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The gene ST7 has recently been implicated as the broad-range tumor suppressor on human chromosome 7q31.1. We did not detect somatic mutations in ST7 in any of 149 primary ovarian, breast or colon carcinomas. These data suggest that epigenetic downregulation or haploinsufficiency, rather than ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng784

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2

Digitale Medien

Sex, flies and microarrays (2001)

Churchill, Gary A. ; Oliver, Brian

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 355-356

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Gene expression microarrays generate stunningly large data sets that require many hours of staring at overwhelmingly long spreadsheets and the frequent purchase of more RAM for laboratory computers. When designing a gene expression experiment, however, perhaps one should imagine that only a single ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1201-355

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3

Digitale Medien

Touching base (2001)

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 361-361

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Silencing crown gall Crown gall disease is responsible for substantial loss of perennial crops worldwide. It is caused by the soil bacterium Agrobacterium tumefaciens, which is introduced through wounds in the plant stem. Oncogenes introduced into the plant genome by the bacterium result in ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1201-361

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4

Digitale Medien

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA (2001)

Mandel, H. ; Szargel, R. ; Labay, V. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 491-491

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Nature Genet. 29, 337–341 (2001). The legend of Fig. 4 contains two incorrect lane references in the second sentence. A corrected legend follows. Fig. 4 Western-blot analysis of liver homogenate. We separated an equivalent of 2 mU citrate synthase from affected individual 21 of family 1-F ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1201-491a

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5

Digitale Medien

A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease–like 2 (2001)

Holmes, Susan E. ; O'Hearn, Elizabeth ; Rosenblatt, Adam ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 377-378

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We recently described a disorder termed Huntington disease–like 2 (HDL2) that completely segregates with an unidentified CAG/CTG expansion in a large pedigree (W). We now report the cloning of this expansion and its localization to a variably spliced exon of JPH3 (encoding junctophilin-3), a ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng760

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6

Digitale Medien

The fragility of fertility (2001)

Yen, Pauline

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 243-244

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] With fewer than 50 genes or gene families—many expressed only in the testis—the Y chromosome is not essential for life. Its main task is to ensure that men can make and deliver sperm for the continuation of the species. The sex-determining role of the Y chromosome has been known for a ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1101-243

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7

Digitale Medien

Touching base (2001)

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 249-249

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Genes on the Fork Food derived from genetically modified organisms (GMOs) has a bad reputation in some circles, especially in Europe. In an effort to change public perception, Swiss immunologist Beda Stadler has put together a book of traditional recipes, from soups to desserts, which use GMOs as ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1101-249

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8

Digitale Medien

Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia (2001)

Zhao, Xinping ; Alvarado, David ; Rainier, Shirley ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 326-331

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The hereditary spastic paraplegias (HSPs; Strümpell-Lorrain syndrome, MIM number 18260) are a diverse class of disorders characterized by insidiously progressive lower-extremity spastic weakness (reviewed in refs. 1–3). Eight autosomal dominant HSP (ADHSP) loci have been identified, the ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng758

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9

Digitale Medien

The promoter connection (2001)

Werner, Thomas

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 105-106

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Since the sequence of the yeast genome was determined in its entirety several years ago, it has served as a catalog of the genes contained in a single genome. On the other hand, large-scale gene expression studies using DNA microarrays now provide clues to the dynamic processes of life, especially ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1001-105

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10

Digitale Medien

The adaptable lin-39 (2001)

Chamberlin, Helen M.

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 106-107

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] A molecular geneticist will often submit a gene sequence to a database for comparison and will be pleased to identify regions of sequence similarity. The assumption is that sequence similarity allows one to extrapolate a possible molecular function for the gene based on previous work on other ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1001-106

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11

Digitale Medien

Time for T (2001)

Murray, Jeffrey C.

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 107-109

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] As the surgeon Poul Fogh-Andersen wrote in 1942, “It occurs rather often that the general practitioner, the obstetrician, the specialist in children's diseases, the surgeon ... is consulted by parents as to the chance of getting a child with harelip or cleft palate ... in such cases the ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1001-107

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12

Digitale Medien

The misunderstood geneticist (2001)

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 115-115

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Of all the misunderstandings that separate the practicing scientist from the rest of the world of curious people, none is more pervasive and more apt to trivialize the scientific enterprise than the general notion that scientists know secrets. Not true. Nothing valuable in science is a secret for ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1001-115

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13

Digitale Medien

Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure (2001)

Birkenhäger, Ralf ; Otto, Edgar ; Schürmann, Maria J. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 310-314

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Antenatal Bartter syndrome (aBS) comprises a heterogeneous group of autosomal recessive salt-losing nephropathies. Identification of three genes that code for renal transporters and channels as responsible for aBS has resulted in new insights into renal salt handling, diuretic action and ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng752

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14

Digitale Medien

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome (2001)

Mueller, James L. ; Broide, David H. ; Wanderer, Alan A. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 301-305

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Familial cold autoinflammatory syndrome (FCAS, MIM 120100), commonly known as familial cold urticaria (FCU), is an autosomal-dominant systemic inflammatory disease characterized by intermittent episodes of rash, arthralgia, fever and conjunctivitis after generalized exposure to cold. FCAS was ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng756

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15

Digitale Medien

Population genetic structure of variable drug response (2001)

Wilson, James F. ; Weale, Michael E. ; Smith, Alice C. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 265-269

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Geographic patterns of genetic variation, including variation at drug metabolizing enzyme (DME) loci and drug targets, indicate that geographic structuring of inter-individual variation in drug response may occur frequently. This raises two questions: how to represent human population genetic ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng761

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16

Digitale Medien

Touching base (2001)

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 113-113

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Protect your DNA The DNA Copyright Institute (DNACI) of San Francisco is offering a special package to provide legal ammunition should anyone decide to clone you without your permission.... For $1,500—with a $250 discount for those who act before December 31 of this ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1001-113

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17

Digitale Medien

An SSLP marker–anchored BAC framework map of the mouse genome (2001)

Cai, Wei-Wen ; Chow, Chi-Wan ; Damani, Shamsha ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 133-134

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We have constructed a BAC framework map of the mouse genome consisting of 2,808 PCR-confirmed BAC clusters, using a previously described method. Fingerprints of BACs from selected clusters confirm the accuracy of the map. Combined with BAC fingerprint data, the framework map covers 37% of the mouse ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1001-133

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18

Digitale Medien

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 (2001)

Hadano, Shinji ; Hand, Collette K. ; Osuga, Hitoshi ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 166-173

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Amyotrophic lateral sclerosis 2 (ALS2) is an autosomal recessive form of juvenile ALS and has been mapped to human chromosome 2q33. Here we report the identification of two independent deletion mutations linked to ALS2 in the coding exons of the new gene ALS2. These deletion mutations result in ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1001-166

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19

Digitale Medien

Mutations in the gene encoding ϵ-sarcoglycan cause myoclonus–dystonia syndrome (2001)

Zimprich, Alexander ; Grabowski, Monika ; Asmus, Friedrich ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 66-69

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The dystonias are a common clinically and genetically heterogeneous group of movement disorders. More than ten loci for inherited forms of dystonia have been mapped, but only three mutated genes have been identified so far. These are DYT1, encoding torsin A and mutant in the early-onset generalized ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng709

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20

Digitale Medien

A Y-encoded subunit of the translation initiation factor Eif2 is essential for mouse spermatogenesis (2001)

Mazeyrat, Sophie ; Saut, Noëmie ; Grigoriev, Vladimir ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 49-53

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] In mouse and man, deletions of specific regions of the Y chromosome have been linked to early failure of spermatogenesis and consequent sterility; the Y chromosomal gene(s) with this essential early role in spermatogenesis have not been identified. The partial deletion of the mouse Y short arm (the ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng717

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21

Digitale Medien

Wildtype Kras2 can inhibit lung carcinogenesis in mice (2001)

Zhang, Zhongqiu ; Vikis, Haris G. ; Johnson, Leisa ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 25-33

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Although the ras genes have long been established as proto-oncogenes, the dominant role of activated ras in cell transformation has been questioned. Previous studies have shown frequent loss of the wildtype Kras2 allele in both mouse and human lung adenocarcinomas. To address the possible tumor ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng721

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22

Digitale Medien

The value of isolated populations (2001)

Shifman, Sagiv ; Darvasi, Ariel

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 309-310

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The relative advantages of isolated (also termed founder or homogeneous) and outbred populations in identifying genes affecting complex traits has been the subject of much debate. The extent of linkage disequilibrium (LD) in isolated and outbred populations has been charted, and the small ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/91060

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23

Digitale Medien

Mutation of DNASE1 in people with systemic lupus erythematosus (2001)

Horiuchi, Takahiko ; Kagami, Shoji ; Tsukamoto, Hiroshi ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 313-314

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Systemic lupus erythematosus (SLE) is a highly prevalent human autoimmune diseases that causes progressive glomerulonephritis, arthritis and an erythematoid rash. Mice deficient in deoxyribonuclease I (Dnase1) develop an SLE-like syndrome. Here we describe two patients with a heterozygous nonsense ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/91070

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24

Digitale Medien

A novel pantothenate kinase gene ( PANK2 ) is defective in Hallervorden-Spatz syndrome (2001)

Zhou, Bing ; Westaway, Shawn K. ; Levinson, Barbara ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 345-349

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Hallervorden-Spatz syndrome (HSS) is an autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain. Clinical features include extrapyramidal dysfunction, onset in childhood, and a relentlessly progressive course. Histologic study reveals iron deposits in the basal ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng572

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25

Digitale Medien

Aromatic hydrocarbon receptor-driven Bax gene expression is required for premature ovarian failure caused by biohazardous environmental chemicals (2001)

Matikainen, Tiina ; Perez, Gloria I. ; Jurisicova, Andrea ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 355-360

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Polycyclic aromatic hydrocarbons (PAHs) are toxic chemicals released into the environment by fossil fuel combustion. Moreover, a primary route of human exposure to PAHs is tobacco smoke. Oocyte destruction and ovarian failure occur in PAH-treated mice, and cigarette smoking causes early menopause ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng575

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26

Digitale Medien

Photo-mediated gene activation using caged RNA/DNA in zebrafish embryos (2001)

Ando, Hideki ; Furuta, Toshiaki ; Tsien, Roger Y. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 317-325

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We report a new and simple technique for photo-mediated temporal and spatial control of gene activation in zebrafish embryos as an alternative to the gene 'knockdown' approach using antisense, morpholino-modified oligonucleotides (morpholinos). The synthetic compound ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng583

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27

Digitale Medien

Protecting individuals and promoting science (2001)

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 195-196

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Last month, Lord Falconer of Thorton and Julian Peto, head of epidemiology at the Institute of Cancer Research near London, argued in the pages of The Times (London) the value of legislation designed to protect patients' medical information. According to Lord Falconer, British law requires that ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/90012

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28

Digitale Medien

Mouse mutagenesis on target (2001)

Jackson, Ian J.

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 198-200

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] A century of direct genetics and about 15 years of targeting gene disruption in embryonic stem (ES) cells have provided mutations in some 10% of the genes expected in the mouse genome. Accelerating the process of attributing to a biological functions mouse genes would greatly benefit the annotation ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/90017

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29

Digitale Medien

Touching base (2001)

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 305-305

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Matriarchy rules To all but the youngest of Nature groupies, the name Maddox is emblematic of a period in which Nature not only pulled its socks up and refocused on delivering worthwhile content of high quality to its readers, but also a period in which it begat Nature Genetics. Sir John, who had ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/91050

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30

Digitale Medien

DelBank: a mouse ES-cell resource for generating deletions (2001)

Goodwin, Neal C. ; Ishida, Yasumasa ; Hartford, Suzanne ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 310-311

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Chromosomal deletions are valuable reagents for identifying and mapping genetic function. To simplify the creation of deletions in mice, we developed a collection of embryonic stem (ES) cell clones called DelBank. DelBank is based upon a technology in which radiation-induced deletions of herpes ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/91064

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IBD sharing around the PPARG locus is not increased in dizygotic twins or their mothers (2001)

Duffy, David ; Montgomery, Grant ; Treloar, Susan ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 315-315

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Busjahn et al reported finding linkage between PPARG (3p25) and being a dizygotic (DZ) twin. We differentiate, as do the authors, between the conception of DZ twins, and being the viable result of such a conception. We observe no evidence of linkage to the region around the PPARG locus in ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/91074

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CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus (2001)

Filippova, Galina N. ; Thienes, Cortlandt P. ; Penn, Bennett H. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 335-343

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Thema: Biologie , Medizin

Notizen: [Auszug] An expansion of a CTG repeat at the DM1 locus causes myotonic dystrophy (DM) by altering the expression of the two adjacent genes, DMPK and SIX5, and through a toxic effect of the repeat-containing RNA. Here we identify two CTCF-binding sites that flank the CTG repeat and form an insulator element ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng570

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Imprinted X inactivation maintained by a mouse Polycomb group gene (2001)

Wang, Jianbo ; Mager, Jesse ; Chen, Yijing ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 371-375

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Thema: Biologie , Medizin

Notizen: [Auszug] In mammals, dosage compensation of X-linked genes is achieved by the transcriptional silencing of one X chromosome in the female (reviewed in ref. 1). This process, called X inactivation, is usually random in the embryo proper. In marsupials and the extra-embryonic region of the mouse, however, X ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng574

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Mutations in IHH , encoding Indian hedgehog, cause brachydactyly type A-1 (2001)

Gao, Bo ; Guo, Jingzhi ; She, Chaowen ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 386-388

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Thema: Biologie , Medizin

Notizen: [Auszug] Brachydactyly type A-1 (BDA-1; MIM 112500) is characterized by shortening or missing of the middle phalanges (Fig. 1a). It was first identified by Farabee in 1903 (ref. 2), is the first recorded example of a human anomaly with Mendelian autosomal-dominant inheritance and, as such, is cited in most ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng577

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Identification of the gene altered in Berardinelli–Seip congenital lipodystrophy on chromosome 11q13 (2001)

Delépine, Marc ; Khallouf, Eliane ; Gedde-Dahl, Tobias ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 365-370

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Thema: Biologie , Medizin

Notizen: [Auszug] Congenital generalized lipodystrophy, or Berardinelli–Seip syndrome (BSCL), is a rare autosomal recessive disease characterized by a near-absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biological features include acanthosis nigricans, ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng585

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Touching base (2001)

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 205-205

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Alan Wolffe (1959–2001) We at Nature Genetics and in the scientific community were greatly saddened by the recent passing of Alan Wolffe, a frequent contributor of both research and commentary to these pages. Wolffe, the chief scientific officer of Sangamo BioSciences, Inc., was involved in ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/90029

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Deconstructing maize population structure (2001)

Pritchard, Jonathan K.

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 203-204

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Association mapping has the potential to play a central role in the task of identifying genes for complex traits, both in humans and in other organisms. Unfortunately, the possibility of spurious associations due to population structure has restricted the utility of these methods. The last two ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/90026

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Light responses of a plastic plant (2001)

Millar, Andrew J.

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 357-358

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Geneticists often concentrate on standard strains of a model species. Many groups working on Arabidopsis thaliana are now looking anew at the natural diversity of this model plant. The commonly used Arabidopsis strains were selected for very short life cycles, for example, whereas many natural ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1201-357

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Is human nature hiddine in the genome? (2001)

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 363-363

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Thema: Biologie , Medizin

Notizen: [Auszug] Common sense, some say, is what tells us the world is flat. Certainly sciences from quantum mechanics to cosmology prospered as we freed ourselves from the self-evident but erroneous concepts we reasoned with. Unfortunately, Paul Ehrlich is not someone who scrutinizes the concepts that lead him ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1201-363

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Genome scanning with array CGH delineates regional alterations in mouse islet carcinomas (2001)

Hodgson, G. ; Hager, J.H. ; Volik, S. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 491-491

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Nature Genet. 29, 459–464 (2001). Our paper was published online on 5 November. Regrettably, we inadvertantly omitted Norma Nowak from the list of authors. The correct list appears above; the corrected list of affiliations ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1201-491b

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Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter (2001)

Leegwater, Peter A.J. ; Vermeulen, Gerre ; Könst, Andrea A.M. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 383-388

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Thema: Biologie , Medizin

Notizen: [Auszug] Leukoencephalopathy with vanishing white matter (VWM) is an inherited brain disease that occurs mainly in children. The course is chronic-progressive with additional episodes of rapid deterioration following febrile infection or minor head trauma. We have identified mutations in EIF2B5 and EIF2B2, ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng764

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A 11.7-kb deletion triggers intersexuality and polledness in goats (2001)

Pailhoux, Eric ; Vigier, Bernard ; Chaffaux, Stéphane ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 453-458

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Mammalian sex determination is governed by the presence of the sex determining region Y gene (SRY) on the Y chromosome. Familial cases of SRY-negative XX sex reversal are rare in humans, often hampering the discovery of new sex-determining genes. The mouse model is also insufficient to correctly ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng769

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Nrl is required for rod photoreceptor development (2001)

Mears, Alan J. ; Kondo, Mineo ; Swain, Prabodha K. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 447-452

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The protein neural retina leucine zipper (Nrl) is a basic motif–leucine zipper transcription factor that is preferentially expressed in rod photoreceptors. It acts synergistically with Crx to regulate rhodopsin transcription. Missense mutations in human NRL have been associated with autosomal ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng774

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Genes required for ionizing radiation resistance in yeast (2001)

Bennett, Craig B. ; Lewis, L. Kevin ; Karthikeyan, Gopalakrishnan ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 426-434

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The ability of Saccharomyces cerevisiae to tolerate ionizing radiation damage requires many DNA-repair and checkpoint genes, most having human orthologs. A genome-wide screen of diploid mutants homozygous with respect to deletions of 3,670 nonessential genes revealed 107 new loci that influence ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng778

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Absence of ST7 mutations in tumor-derived cell lines and tumors (2001)

Hughes, Kate A. ; Hurlstone, Adam F.L. ; Tobias, Edward S. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 380-381

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The gene ST7 has been proposed as the multi-tissue tumor-suppressor gene (TSG) at chromosome 7q31.1. However, we have sought and failed to detect the truncating mutations reported to exist in this gene. The location of a multi-tissue tumor-suppressor gene at human chromosome 7q31 is supported ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng783

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A fever gene comes in from the cold (2001)

Kastner, Daniel L. ; O'Shea, John J.

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 241-242

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The autoinflammatory diseases are a group of relatively rare, heritable disorders of inflammation notable for their relative lack of high-titer autoantibodies or antigen-specific T cells. It is presumed that an understanding of these illnesses will uncover key mediators that contribute to the ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1101-241

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Pharmacogenetics: more than skin deep (2001)

McLeod, Howard L.

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 247-248

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The ongoing identification of single-nucleotide polymorphisms (SNPs) has produced a greater understanding of the sources of genetic variability. One area that will probably benefit from this effort is pharmacogenetics—the inherited component of variability in drug disposition, efficacy and ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1101-247

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Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus (2001)

Verpy, Elisabeth ; Masmoudi, Saber ; Zwaenepoel, Ingrid ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 345-349

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Hearing impairment affects about 1 in 1,000 children at birth. Approximately 70 loci implicated in non-syndromic forms of deafness have been reported in humans and 24 causative genes have been identified (see also http://www.uia.ac.be/dnalab/hhh). We report a mouse transcript, isolated by a ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng726

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Replication validity of genetic association studies (2001)

Ntzani, Evangelia E. ; Trikalinos, Thomas A. ; Contopoulos-Ioannidis, Despina G. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 306-309

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The rapid growth of human genetics creates countless opportunities for studies of disease association. Given the number of potentially identifiable genetic markers and the multitude of clinical outcomes to which these may be linked, the testing and validation of statistical hypotheses in genetic ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng749

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A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome (2001)

Osborne, Lucy R. ; Li, Martin ; Pober, Barbara ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 321-325

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Thema: Biologie , Medizin

Notizen: [Auszug] Williams-Beuren syndrome (WBS) is most often caused by hemizygous deletion of a 1.5-Mb interval encompassing at least 17 genes at 7q11.23 (refs. 1,2). As with many other haploinsufficiency diseases, the mechanism underlying the WBS deletion is thought to be unequal meiotic recombination, probably ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng753

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The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men (2001)

Kuroda-Kawaguchi, Tomoko ; Skaletsky, Helen ; Brown, Laura G. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 279-286

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Thema: Biologie , Medizin

Notizen: [Auszug] Deletions of the AZFc (azoospermia factor c) region of the Y chromosome are the most common known cause of spermatogenic failure. We determined the complete nucleotide sequence of AZFc by identifying and distinguishing between near-identical amplicons (massive repeat units) using an iterative ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng757

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MID1 , mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation (2001)

Trockenbacher, Alexander ; Suckow, Vanessa ; Foerster, John ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 287-294

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The gene MID1, the mutation of which causes X-linked Opitz G/BBB syndrome (OS, MIM 300000), encodes a microtubule-associated protein (MAP). We show that mutation of MID1 leads to a marked accumulation of the catalytic subunit of protein phosphatase 2A (PP2Ac), a central cellular regulator. PP2Ac ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng762

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Genomics and future biological weapons: the need for preventive action by the biomedical community (2001)

Dando, Malcolm R. ; Fraser, Claire M.

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 253-256

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Biological warfare attacks have often been dismissed as science fiction or as so immoral as to be beyond imagination. The tragic events in the United States on 11 September 2001 show that they are neither, and will force a reconsideration of international security. It can no longer be assumed that ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng763

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Stem-cell politics (2001)

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 101-102

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Thema: Biologie , Medizin

Notizen: [Auszug] The implications of President George W. Bush's announcement—that the U.S. federal government will fund research on 64 embryonic human stem cell lines that it considers to have been extant on 9 August—are beginning to become clear. Now that the heated argument between supporters and ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1001-101

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Genetic inroads in familial ALS (2001)

Shaw, Pamela J.

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 103-104

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Thema: Biologie , Medizin

Notizen: [Auszug] On pages 160–165 and 166–173 of this issue, Yi Yang and colleagues and Shinji Hadano and colleagues reveal the identity of a gene that, when mutated, is responsible for a rare autosomal recessive variant of amyotrophic lateral sclerosis (ALS). This disorder, called 'juvenile ALS,' is ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1001-103

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Islands of linkage disequilibrium (2001)

Goldstein, David B.

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 109-111

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The natural world is not famous for making life easy for human geneticists. Despite application of an increasingly powerful set of tools provided by the Human Genome Project, the complexity of common diseases has made them largely refractory to genetic analysis. In the face of this complexity, ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1001-109

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Intra-cytoplasmic sperm injection and infertility (2001)

Faddy, Malcolm J. ; Silber, Sherman J. ; Gosden, Roger G.

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 131-131

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Thema: Biologie , Medizin

Notizen: [Auszug] Assisted reproductive technology has revolutionized the treatment of infertility, one of the most common disorders of human health. From the breakthrough of in vitro fertilization to the advent of reproductive cloning, each milestone has been accompanied by controversy over the implications for ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1001-131

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The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis (2001)

Yang, Yi ; Hentati, Afif ; Deng, Han-Xiang ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 160-165

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS) are neurodegenerative conditions that affect large motor neurons of the central nervous system. We have identified a familial juvenile PLS (JPLS) locus overlapping the previously identified ALS2 locus on chromosome 2q33. We ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1001-160

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A radiation hybrid transcript map of the mouse genome (2001)

Bruls, Thomas ; Poras, Isabelle ; Eley, Lorraine ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 194-200

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Expressed-sequence tag (EST) maps are an adjunct to sequence-based analytical methods of gene detection and localization for those species for which such data are available, and provide anchors for high-density homology and orthology mapping in species for which large-scale sequencing has yet to be ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1001-194

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High-resolution haplotype structure in the human genome (2001)

Rioux, John D. ; Schaffner, Stephen F. ; Hudson, Thomas J. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 229-232

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Linkage disequilibrium (LD) analysis is traditionally based on individual genetic markers and often yields an erratic, non-monotonic picture, because the power to detect allelic associations depends on specific properties of each marker, such as frequency and population history. Ideally, LD ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1001-229

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Disruption of Trrap causes early embryonic lethality and defects in cell cycle progression (2001)

Herceg, Zdenko ; Hulla, Wolfgang ; Gell, David ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 206-211

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The transactivation/transformation–domain associated protein (TRRAP) belongs to the Ataxia-telangiectasia mutated (ATM) super-family and has been identified as a cofactor for c-MYC–mediated oncogenic transformation. TRRAP and its yeast homolog (Tra1p) are components of histone ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng725

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Expression profiling of medulloblastoma: PDGFRA and the RAS/MAPK pathway as therapeutic targets for metastatic disease (2001)

Brown, Kevin M. ; LaFleur, Bonnie ; Peterson, Katia ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 143-152

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Little is known about the genetic regulation of medulloblastoma dissemination, but metastatic medulloblastoma is highly associated with poor outcome. We obtained expression profiles of 23 primary medulloblastomas clinically designated as either metastatic (M+) or non-metastatic (M0) and identified ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng731

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63

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Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria (2001)

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 100-100

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] J.N. Spelbrink, F.-Y. Li, V. Tiranti, K. Nikali, Q.-P. Yuan, M. Tariq, S. Wanrooij, N. Garrido, G. Comi, L. Morandi, L. Santoro, A. Toscano, G.-M. Fabrizi, H. Somer, R. Croxen, D. Beeson, J. Poulton, A. Suomalainen, H.T. Jacobs, M. Zeviani & C. Larsson Nature Genet. 28, 223–231 (2001). ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0901-100b

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How human geneticists in US view commercialization of the Human Genome Project (2001)

Rabino, Isaac

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 15-16

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The Human Genome Project (HGP) has become highly controversial due to the entrance of commercial competition. Recent literature explores such concerns as patenting, secrecy, excessive duplication of efforts, and focus on profits rather than quality of research. To assess the opinions of human ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0901-15

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The sights along route 65 (2001)

Saari, John C.

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 8-9

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Leber congenital amaurosis (LCA) is an early-onset, autosomal recessive form of retinitis pigmentosa that results in blindness or severely impaired vision in children. Mutations in the gene encoding RPE65 account for approximately 15% of LCA in North America. RPE65 was named for its apparent ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0901-8

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Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1 (2001)

Grohmann, Katja ; Schuelke, Markus ; Diers, Alexander ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 75-77

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Classic spinal muscular atrophy (SMA) is caused by mutations in the telomeric copy of SMN1. Its product is involved in various cellular processes, including cytoplasmic assembly of spliceosomal small nuclear ribonucleoproteins, pre-mRNA processing and activation of transcription. Spinal muscular ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng703

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Mutant β-spectrin 4 causes auditory and motor neuropathies in quivering mice (2001)

Parkinson, Nicholas J. ; Olsson, Christine L. ; Hallows, Janice L. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 61-65

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The autosomal recessive mouse mutation quivering (qv), which arose spontaneously in 1953, produces progressive ataxia with hind limb paralysis, deafness and tremor. Six additional spontaneous alleles, qvJ, qv2J, qv3J, qv4J, qvlnd and qvlnd2J, have been identified. Ear twitch responses (Preyer's ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng710

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Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome (2001)

Moghadaszadeh, Behzad ; Petit, Nathalie ; Jaillard, Céline ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 17-18

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] One form of congenital muscular dystrophy, rigid spine syndrome (MIM 602771), is a rare neuromuscular disorder characterized by early rigidity of the spine and respiratory insufficiency. A locus on 1p35–36 (RSMD1) was recently found to segregate with rigid spine muscular dystrophy 1 (ref. 1). ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng713

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The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy (2001)

Eisenberg, Iris ; Avidan, Nili ; Potikha, Tamara ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 29 (2001), S. 83-87

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Hereditary inclusion body myopathy (HIBM; OMIM 600737) is a unique group of neuromuscular disorders characterized by adult onset, slowly progressive distal and proximal weakness and a typical muscle pathology including rimmed vacuoles and filamentous inclusions. The autosomal recessive form ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng718

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Defining a new bioethic (2001)

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 297-298

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] With so much attention now being given (deservedly) to the development and containment of genomics within an ethical framework, the whole question of ethics and what it means for genomics warrants close examination. The Oxford English Dictionary defines ethics as “the science of morals in ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/91034

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Iron on the brain (2001)

Rouault, Tracey A.

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 299-300

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] For many years it has been well accepted that accumulations of iron in organs such as the liver and heart can cause disease. In disorders such as genetic hemochromatosis and thalassemia, hepatic iron overload causes cirrhosis; cardiac iron overload leads to heart failure. Accumulations of iron are ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/91036

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Medaka on the move (2001)

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 302-302

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Long before it found favor with geneticists—long before there were geneticists, in fact—the Japanese medaka (Oryzias latipes) was bred by hobbyists throughout Japan. As shown here in an 1843 drawing by Bai-en Mohri, there are differently pigmented strains of medaka that enhance their ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/91042

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To bind or not to bind (2001)

Biggin, Mark D.

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 303-304

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] As the immunologist Paul Ehrlich emphasized, almost all biochemical reactions require the specific interaction of a protein with one or more ligands, be they small molecules, nucleic acids or other proteins. Measurements in vitro of the affinity and specificity of protein–ligand interactions ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/91045

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The first step toward a definitive bioinformatics textbook (2001)

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 308-308

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] There are as many definitions of the word 'bioinformatics' as there are people who are willing to give one. Thus, to title a book Bioinformatics, even with the more specific subtitle, Sequence and Genome Analysis, begs for clashes and controversies over whether or not it lives up to its name. The ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/91057

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Promoter-specific binding of Rap1 revealed by genome-wide maps of protein–DNA association (2001)

Lieb, Jason D. ; Liu, Xiaole ; Botstein, David ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 327-334

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We determined the distribution of repressor-activator protein 1 (Rap1) and the accessory silencing proteins Sir2, Sir3 and Sir4 in vivo on the entire yeast genome, at a resolution of 2 kb. Rap1 is central to the cellular economy during rapid growth, targeting 294 loci, about 5% of yeast genes, and ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/91045

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Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease (2001)

Curtis, Andrew R.J. ; Fey, Constanze ; Morris, Christopher M ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 350-354

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We describe here a previously unknown, dominantly inherited, late-onset basal ganglia disease, variably presenting with extrapyramidal features similar to those of Huntington's disease (HD) or parkinsonism. We mapped the disorder, by linkage analysis, to 19q13.3, which contains the gene for ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng571

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77

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Mutation of a new gene causes a unique form of Hermansky–Pudlak syndrome in a genetic isolate of central Puerto Rico (2001)

Anikster, Yair ; Huizing, Marjan ; White, James ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 376-380

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a storage pool deficiency due to an absence of platelet dense bodies. Lysosomal ceroid lipofuscinosis, pulmonary fibrosis and granulomatous colitis are occasional manifestations ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng576

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78

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Increased efficiency of mRNA 3′ end formation: a new genetic mechanism contributing to hereditary thrombophilia (2001)

Gehring, Niels H. ; Frede, Ute ; Neu-Yilik, Gabriele ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 389-392

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The G→A mutation at position 20210 of the prothrombin or coagulation factor II gene (F2) represents a common genetic risk factor for the occurrence of thromboembolic events. This mutation affects the 3′-terminal nucleotide of the 3′ untranslated region (UTR) of the mRNA and causes ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng578

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79

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The history of life (2001)

Olsen, Gary J.

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 197-198

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] About four years after Dalí's observation on “The Persistence of Memory,” Zuckerkandl and Pauling elegantly laid out the foundations of molecular phylogeny—the appreciation that genes (and their products) are records of their own history, and, indirectly, records of the ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/90014

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Fusion of two novel genes, RBM15 and MKL1 , in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia (2001)

Ma, Zhigui ; Valentine, Virginia ; L, Martin ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 220-221

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] t(1;22) is the principal translocation of acute megakaryoblastic leukemias. Here we show this chromosomal rearrangement to result in the fusion of two novel genes, RNA-binding motif protein-15 (RBM15), an RNA recognition motif-encoding gene with homology to Drosophila spen, and Megakaryoblastic ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/90054

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81

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Ltap , a mammalian homolog of Drosophila Strabismus/Van Gogh , is altered in the mouse neural tube mutant Loop-tail (2001)

Kibar, Zoha ; Vogan, Kyle J. ; Groulx, Normand ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 251-255

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Neural tube defects (NTDs) such as spina bifida and anencephaly are common congenital malformations in humans (1/1,000 births) that result from failure of the neural tube to close during embryogenesis. The etiology of NTDs is complex, with both genetic and environmental contributions; the genetic ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/90081

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82

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The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice (2001)

Bressler, Jan ; Tsai, Ting-Fen ; Wu, Mei-Yi ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 232-240

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] In mice and humans, the locus encoding the gene for small nuclear ribonucleoprotein N (SNRPN/Snrpn), as well as other loci in the region are subject to genomic imprinting. The SNRPN promoter is embedded in a maternally methylated CpG island, is expressed only from the paternal chromosome and lies ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/90067

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83

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A photic visual cycle of rhodopsin regeneration is dependent on Rgr (2001)

Chen, Pu ; Hao, Wenshan ; Rife, Lawrence ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 256-260

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] During visual excitation, rhodopsin undergoes photoactivation and bleaches to opsin and all-trans-retinal. To regenerate rhodopsin and maintain normal visual sensitivity, the all-trans isomer must be metabolized and reisomerized to produce the chromophore 11-cis-retinal in biochemical steps that ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/90089

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84

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Functional analysis of secreted and transmembrane proteins critical to mouse development (2001)

Mitchell, Kevin J. ; Pinson, Kathy I. ; Kelly, Olivia G. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 241-249

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We describe the successful application of a modified gene-trap approach, the secretory trap, to systematically analyze the functions in vivo of large numbers of genes encoding secreted and membrane proteins. Secretory-trap insertions in embryonic stem cells can be transmitted to the germ line of ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/90074

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Mutation of the matrix metalloproteinase 2 gene ( MMP2 ) causes a multicentric osteolysis and arthritis syndrome (2001)

Aqeel, Aida Al ; Sewairi, Wafaa Al ; Boumah, Christine E. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 261-265

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The inherited osteolyses or 'vanishing bone' syndromes are a group of rare disorders of unknown etiology characterized by destruction and resorption of affected bones. The multicentric osteolyses are notable for interphalangeal joint erosions that mimic severe juvenile rheumatoid arthritis (OMIMs ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/90100

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86

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Universal trees based on large combined protein sequence data sets (2001)

Douady, Christophe J. ; Italia, Michael J. ; Marshall, William E. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 281-285

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Universal trees of life based on small-subunit (SSU) ribosomal RNA (rRNA) support the separate mono/holophyly of the domains Archaea (archaebacteria), Bacteria (eubacteria) and Eucarya (eukaryotes) and the placement of extreme thermophiles at the base of the Bacteria. The concept of universal tree ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/90129

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Human cells are protected from mitochondrial dysfunction by complementation of DNA products in fused mitochondria (2001)

Ono, Tomoko ; Isobe, Kotoyo ; Nakada, Kazuto ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 272-275

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Extensive complementation between fused mitochondria is indicated by recombination of 'parental' mitochondrial (mt) DNA (ref. 1,2) of yeast and plant cells. It has been difficult, however, to demonstrate the occurrence of complementation between fused mitochondria in mammalian species through the ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/90116

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Genetic interactions between tumor suppressors Brca1 and p53 in apoptosis, cell cycle and tumorigenesis (2001)

Xu, Xiaoling ; Qiao, Wenhui ; Linke, Steven P. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 266-271

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Breast cancer is a chief cause of cancer-related mortality that affects women worldwide. About 8% of cases are hereditary, and approximately half of these are associated with germline mutations of the breast tumor suppressor gene BRCA1 (refs. 1,2). We have previously reported a mouse model in which ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/90108

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89

Digitale Medien

Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation (2001)

Hiroi, Yukio ; Kudoh, Sumiyo ; Monzen, Koshiro ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 276-280

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The cardiac homeobox protein Nkx2-5 is essential in cardiac development, and mutations in Csx (which encodes Nkx2-5) cause various congenital heart diseases. Using the yeast two-hybrid system with Nkx2-5 as the 'bait', we isolated the T-box-containing transcription factor Tbx5; mutations in TBX5 ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/90123

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90

Digitale Medien

Regulation of premeiotic S phase and recombination-related double-strand DNA breaks during meiosis in fission yeast (2001)

Nurse, Paul ; Murakami, Hiroshi

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 290-293

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The meiotic cell cycle is characterized by high levels of recombination induced by DNA double-strand breaks (DSBs), which appear after completion of premeiotic S phase, leading to the view that initiation of recombination depends on meiotic DNA replication. It has also been indicated that DNA ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/90142

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91

Digitale Medien

Mitotic maneuvers in the light (2001)

Vrieling, Harry

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 101-102

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The term mitotic recombination (also referred to as somatic recombination) is used to describe recombination events between homologous chromosomes that, following chromosome segregation and cell division, can result in loss of heterozygosity (LOH) of numerous genetic loci on the involved ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/88794

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92

Digitale Medien

Dwarf8 polymorphisms associate with variation in flowering time (2001)

Thornsberry, Jeffry M. ; Goodman, Major M. ; Doebley, John ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 286-289

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Historically, association tests have been used extensively in medical genetics, but have had virtually no application in plant genetics. One obstacle to their application is the structured populations often found in crop plants, which may lead to nonfunctional, spurious associations. In this study, ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/90135

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93

Digitale Medien

Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas (2001)

Serra, Eduard ; Rosenbaum, Thorsten ; Nadal, Marga ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 294-296

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Pure populations of neurofibroma-derived Schwann cells bearing both NF1 mutated alleles (NF1−/−) have been isolated from different neurofibromas showing loss of heterozygosity of nearly the entire 17q chromosome. By comparing molecular and fluorescent in situ hybridization analysis of ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/90148

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94

Digitale Medien

Asking the age-old questions (2001)

Larsen, Pamela L

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 102-104

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] What is aging? Anyone can give a descriptive answer to this question, whether a young child or a centenarian. It's a biological reality that is familiar to us all. But what is aging at the molecular level and what are the cellular mechanisms that contribute to the characteristics we label aging? ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/88797

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95

Digitale Medien

To be or not to BMP (2001)

Eng, Charis

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 105-107

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Juvenile polyposis syndrome (JPS) is a diagnosis of exclusion among the so-called hamartoma polyposis syndromes. A hamartoma is a benign growth comprised of at least two of the elements of the gastrointestinal tissue but in a developmentally disorganized fashion. JPS is an autosomal dominant ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/88802

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96

Digitale Medien

Mitochondria: integrators in tumorigenesis? (2001)

Augenlicht, Leonard H ; Heerdt, Barbara G

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 104-105

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] In the ancient history of tumor cell biology and biochemistry (that is, pre-1995), it was established that mitochondrial DNA accumulates more damage from genotoxic agents than does the nuclear genome, probably because the mitochondria have less efficient DNA repair systems than the nucleus. This is ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/88800

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97

Digitale Medien

Hypoxia and Lou Gehrig (2001)

Skene, JH Pate ; Cleveland, Don W

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 107-108

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] It is a legendary tragedy. Lou Gehrig, after 2,130 consecutive games of graceful athleticism, flubs an easy throw to first, announcing the onset not just of middle age, but of a progressive deterioration of motor neurons that will end his career and his life within two years. Stephen Hawking ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/88805

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98

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Touching base (2001)

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 109-109

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Patched clamp Since its introduction in 1989, the yeast two-hybrid system has identified countless protein–protein interactions, thereby assigning potential functions to newly identified proteins whose sequences protect their secrets. Elizabeth Barnes and colleagues (of the University of ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/88807

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99

Digitale Medien

The evolution of complexity (2001)

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 111-111

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Mendelian inheritance is a magnificent innovation. It is like a factorial experiment in which each factor occurs in combination with all others and is therefore fairly assessed on its own merits. Meiosis achieves this by randomization such that each gene has an equal probability of being included ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/88812

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100

Digitale Medien

Mouse models of cell death (2001)

Ranger, Ann M. ; Malynn, Barbara A. ; Korsmeyer, Stanley J.

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 113-118

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Cell death is critical for the development and orderly maintenance of cellular homeostasis in metazoans. Developmental genetics in model systems, including Caenorhabditis elegans and Drosophila melanogaster, have helped to identify and order the components of cell-death pathways. An even more ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/88815

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