ALBERT — All Library Books, journals and Electronic Records Telegrafenberg

1

Digitale Medien

Don't feed the hype! (2003)

[s.l.] : Nature Publishing Group

Nature genetics 35 (2003), S. 1-1

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] 'Scientists find key to age-related deafness'—the public is deluged with headlines like this one that purport to identify the genetic causes of human disease. For those who read beyond the catchy headlines, the content of scientific articles varies—from the informative and accurate to ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0903-1

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2

Digitale Medien

A new piece of the ALS puzzle (2003)

[s.l.] : Nature Publishing Group

Nature genetics 35 (2003), S. 107-107

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Nat. Genet. 34, 357 (2003). The second at-risk haplotype in Figure 1 should read ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0903-107

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3

Digitale Medien

An ICE pattern crystallizes (2003)

Spahn, Laura ; Barlow, Denise P

[s.l.] : Nature Publishing Group

Nature genetics 35 (2003), S. 11-12

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Approximately 70 genes, some with important developmental roles, show parental-specific gene expression in mammals (see http://www.mgu.har.mrc.ac.uk/research/imprinting/). This phenomenon, called genomic imprinting, renders a diploid organism functionally haploid with respect to a gene product. ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0903-11

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4

Digitale Medien

An expanded role for wild-type huntingtin in neuronal transcription (2003)

Thompson, Leslie Michels

[s.l.] : Nature Publishing Group

Nature genetics 35 (2003), S. 13-14

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Why are some genes expressed exclusively in neurons and not in other tissues? In 1992, repressor element-1 transcription factor/neuron restrictive silencer factor (REST/NRSF) was identified based on binding to the neuron-specific genes encoding stathmin-like 2 (also called superiorcervical ganglia, ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0903-13

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5

Digitale Medien

Alu: a parasite's parasite? (2003)

Schmid, Carl W

[s.l.] : Nature Publishing Group

Nature genetics 35 (2003), S. 15-16

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] About fifty percent of human DNA consists of currently active retrotransposable elements, most notably Alu and LINE1 elements, and highly decomposed fossils of similar elements, some of which predate mammalian radiation. There are over one million Alu family members, which share a 282-nucleotide ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0903-15

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6

Digitale Medien

Touching base (2003)

[s.l.] : Nature Publishing Group

Nature genetics 35 (2003), S. 17-17

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The NIH shuffle The US National Research Council and Institute of Medicine have issued a report recommending a series of organizational changes at the National Institutes of Health (NIH). Despite recent calls in some quarters for a wholesale consolidation of the 27 institutes and centers that make ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0903-17

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7

Digitale Medien

Research notes (2003)

[s.l.] : Nature Publishing Group

Nature genetics 35 (2003), S. 19-19

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Mining for cyclin D1 activity Many of the players downstream of cyclin D1 in cell cycle progression are well established, but to date, little is known about what role the protein has in cancer progression. Justin Lamb and colleagues now report that C/EBPβ is a key partner for cyclin D1 in ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0903-19

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8

Digitale Medien

Worms in L.A. (2003)

Fraser, Andrew

[s.l.] : Nature Publishing Group

Nature genetics 35 (2003), S. 3-5

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] In the year that the Nobel Prize was awarded to Sydney Brenner, Bob Horvitz and Sir John Sulston, the 14th International C. elegans meeting* was bound to be a celebration as well as a scientific meeting and social get-together. The celebratory mood reached its high point during the keynote ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0903-3

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9

Digitale Medien

A manifesto for the disenchanted (2003)

[s.l.] : Nature Publishing Group

Nature genetics 35 (2003), S. 7-8

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The interplay between new technology and its effects on the prevailing social order is a rich source of material for critical political theory. This is for good reason: new technologies transform social interactions in ways that challenge our view of social order and human nature. In Science, ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0903-7

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10

Digitale Medien

Huntingtin interacts with REST/NRSF to modulate the transcription of NRSE-controlled neuronal genes (2003)

Zuccato, Chiara ; Tartari, Marzia ; Crotti, Andrea ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 35 (2003), S. 76-83

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Huntingtin protein is mutated in Huntington disease. We previously reported that wild-type but not mutant huntingtin stimulates transcription of the gene encoding brain-derived neurotrophic factor (BDNF; ref. 2). Here we show that the neuron restrictive silencer element (NRSE) is the target of ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1219

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11

Digitale Medien

LINE-mediated retrotransposition of marked Alu sequences (2003)

Dewannieux, Marie ; Esnault, Cécile ; Heidmann, Thierry

[s.l.] : Nature Publishing Group

Nature genetics 35 (2003), S. 41-48

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Alu elements are the most successful transposons in humans. They are 300-bp non-coding sequences transcribed by RNA polymerase III (Pol III) and are expected to retrotranspose with the aid of reverse transcriptases of cellular origin. We previously showed that human LINEs can generate cDNA copies ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1223

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12

Digitale Medien

Trans -acting regulatory variation in Saccharomyces cerevisiae and the role of transcription factors (2003)

Yvert, Gaël ; Brem, Rachel B ; Whittle, Jacqueline ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 35 (2003), S. 57-64

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Natural genetic variation can cause significant differences in gene expression, but little is known about the polymorphisms that affect gene regulation. We analyzed regulatory variation in a cross between laboratory and wild strains of Saccharomyces cerevisiae. Clustering and linkage analysis ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1222

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13

Digitale Medien

Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase (2003)

Benson, Kathleen F ; Li, Feng-Qian ; Person, Richard E ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 35 (2003), S. 90-96

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Cyclic hematopoiesis is a stem cell disease in which the number of neutrophils and other blood cells oscillates in weekly phases. Autosomal dominant mutations of ELA2, encoding the protease neutrophil elastase, found in lysosome-like granules, cause cyclic hematopoiesis and most cases of the ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1224

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14

Digitale Medien

Mitochondrial DNA modifies cognition in interaction with the nuclear genome and age in mice (2003)

Sluyter, Frans ; Carlier, Michèle ; Marcet, Brice ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 35 (2003), S. 65-69

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Several lines of evidence indicate an association between mitochondrial DNA (mtDNA) and the functioning of the nervous system. As neuronal development and structure as well as axonal and synaptic activity involve mitochondrial genes, it is not surprising that most mtDNA diseases are associated with ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1230

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15

Digitale Medien

A naturalist's evo-devo (2003)

[s.l.] : Nature Publishing Group

Nature genetics 34 (2003), S. 351-351

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Let's be honest: the much-hyped discipline of evolutionary developmental biology, or evo-devo, hasn't quite lived up to expectations—at least, not if we were expecting a revolution in biology. And when I visited the US recently, American colleagues told me that they have to purge the word ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0803-351

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16

Digitale Medien

Aurora and the hunt for cancer-modifying genes (2003)

Dove, William

[s.l.] : Nature Publishing Group

Nature genetics 34 (2003), S. 353-354

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The simple paradigm for discovering genes and their cognate molecules that can affect a neoplastic pathway is to search for mutated alleles that predispose to cancer with high probability ('penetrance'). This strategy has led to a long list of genes that are somatically activated in human or murine ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0803-353

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17

Digitale Medien

From cilia to cyst (2003)

Watnick, Terry ; Germino, Gregory

[s.l.] : Nature Publishing Group

Nature genetics 34 (2003), S. 355-356

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Cystic diseases of the kidney are a clinically important and genetically diverse group of disorders that share in common altered regulation of tubular morphology. Despite their clinical and pathological heterogeneity, the fact that the diseases result in a similar outcome—dilated tubules or ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0803-355

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18

Digitale Medien

Ensuring enhancer fidelity (2003)

Maeda, Robert K ; Karch, François

[s.l.] : Nature Publishing Group

Nature genetics 34 (2003), S. 360-361

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The discovery of transcriptional enhancers a little over twenty years ago opened our eyes to how eukaryotes achieve spatial and temporal control of gene expression. But the fact that these elements can be located either upstream or downstream of the promoter, and often had the ability to exert ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0803-360

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19

Digitale Medien

Touching base (2003)

[s.l.] : Nature Publishing Group

Nature genetics 34 (2003), S. 363-363

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Mutant of the Month For the August MoM, we toast Bar. The mutant was discovered in 1913 as a spontaneous dominant mutation that gives flies small, narrow eyes. It fascinated early geneticists, because, unlike all the other mutations that had been discovered, it reverted at a very high frequency to ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0803-363

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20

Digitale Medien

Research notes (2003)

[s.l.] : Nature Publishing Group

Nature genetics 34 (2003), S. 364-364

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] FindING a phosphoinositide receptor Phosphoinositides (PtdInsPs) have diverse roles in cytoplasmic signaling, but so far their function in the nucleus has been unclear. Or Gozani and colleagues have now found that ING2, a PHD finger protein associated with chromatin complexes, is in fact a nuclear ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0803-364

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21

Digitale Medien

A singular chromosome (2003)

Hurles, Matthew E ; Jobling, Mark A

[s.l.] : Nature Publishing Group

Nature genetics 34 (2003), S. 246-247

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] In a way, it's Randy's fault. One-time cover-star of Nature, this trans-sexual transgenic mouse, carrying a mere 14 kb of Y chromosome but nevertheless evidently a boy, entrenched the idea that the mammalian Y chromosome was a one-trick, one-gene show. The SRY gene confers testes, and the other ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0703-246

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22

Digitale Medien

Research notes (2003)

[s.l.] : Nature Publishing Group

Nature genetics 34 (2003), S. 250-250

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Prospects for the golden monkey Rhinopithecus roxellana, the iconic golden monkey of mainland China, is an endangered species with an estimated population size of 10,000–20,000. Although efforts to assess its population history and remaining genetic diversity have been hampered by a scarcity ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0703-250

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23

Digitale Medien

Imprinted microRNA genes transcribed antisense to a reciprocally imprinted retrotransposon-like gene (2003)

Seitz, Hervé ; Youngson, Neil ; Lin, Shau-Ping ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 34 (2003), S. 261-262

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] MicroRNAs (miRNAs) are an abundant class of RNAs that are ∼21–25 nucleotides (nt) long, interact with mRNAs and trigger either translation repression or RNA cleavage (RNA interference, RNAi) depending on the degree of complementarity with their targets. Here we show that the imprinted ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1171

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24

Digitale Medien

Turned off by RNA (2003)

Kleinjan, Dirk A ; van Heyningen, Veronica

[s.l.] : Nature Publishing Group

Nature genetics 34 (2003), S. 125-126

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Human hemoglobinopathies are caused by a rich spectrum of mutations, studies of which have led to much broader insight into the basic mechanisms of gene regulation. On page 157 of this issue, Cristina Tufarelli and colleagues describe a novel mechanism of transcriptional silencing in a well studied ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0603-125

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25

Digitale Medien

Reality check for pharmacogenomics (2003)

[s.l.] : Nature Publishing Group

Nature genetics 34 (2003), S. 123-124

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Complete sequencing of the human genome and the fruits of related spin-off projects from the SNPMap, HapMap and Environmental Genome consortiums are expected to substantially improve our understanding of genetic contributions to disease and enhance the development and implementation of new and ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0603-123

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26

Digitale Medien

The advantages of recombination (2003)

Carvalho, Antonio Bernardo

[s.l.] : Nature Publishing Group

Nature genetics 34 (2003), S. 128-129

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sexual recombination is the process whereby the genetic material of the parents is shuffled in meiosis and then mixed in fertilization. The question of its evolutionary advantage has been the subject of many theoretical and empirical investigations. One powerful empirical approach has been the ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0603-128

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27

Digitale Medien

Touching base (2003)

[s.l.] : Nature Publishing Group

Nature genetics 34 (2003), S. 131-131

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The Rhoads not taken In late April, the American Association for Cancer Research (AACR) announced that the prestigious Cornelius Rhoads Memorial Award for young cancer researchers would be renamed after reports of its namesake's offensive comments regarding Puerto Ricans in the 1930s resurfaced. ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0603-131

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28

Digitale Medien

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia (2003)

Abifadel, Marianne ; Varret, Mathilde ; Rabès, Jean-Pierre ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 34 (2003), S. 154-156

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol levels that is associated with mutations in the genes LDLR (encoding low-density lipoprotein receptor) or APOB (encoding ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1161

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29

Digitale Medien

How to book for microarrays (2003)

[s.l.] : Nature Publishing Group

Nature genetics 34 (2003), S. 13-13

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] As someone who teaches the fabrication and use of DNA microarrays professionally, I took more than a casual interest in Cold Spring Harbor Laboratory Press' recent offering, DNA Microarrays: A Molecular Cloning Manual. I was pleased to find it very useful, in keeping with the tradition of the ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0503-13

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30

Digitale Medien

Genomic analysis of primary tumors does not address the prevalence of metastatic cells in the population (2003)

Kripke, Margaret L. ; Fidler, Isaiah J.

[s.l.] : Nature Publishing Group

Nature genetics 34 (2003), S. 23-23

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Ramaswamy et al. compared gene expression profiles of adenocarcinoma metastases to unmatched primary adenocarcinomas. They found an expression pattern that distinguished primary tumors from metastases but also reported that a subset of primary tumors had the expression pattern of metastases. This ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0503-23a

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31

Digitale Medien

Genetic background is an important determinant of metastatic potential (2003)

Welch, Danny R. ; Liu, Edison T. ; Hunter, Kent

[s.l.] : Nature Publishing Group

Nature genetics 34 (2003), S. 23-24

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Recently there has been some debate about the etiology of cancer metastatic potential. Using microarray gene expression patterns of breast carcinomas, van't Veer et al. reported that a set of 117 genes predicted metastatic potential. More recently, a small set of 17 genes was reported to predict ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0503-23b

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32

Digitale Medien

Prox1 function controls progenitor cell proliferation and horizontal cell genesis in the mammalian retina (2003)

Dyer, Michael A. ; Livesey, Frederick J. ; Cepko, Constance L. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 34 (2003), S. 53-58

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Retinal progenitor cells regulate their proliferation during development so that the correct number of each cell type is made at the appropriate time. We found that the homeodomain protein Prox1 regulates the exit of progenitor cells from the cell cycle in the embryonic mouse retina. Cells lacking ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1144

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Digitale Medien

Tissue-specific nuclear architecture and gene expession regulated by SATB1 (2003)

Cai, Shutao ; Han, Hye-Jung ; Kohwi-Shigematsu, Terumi

[s.l.] : Nature Publishing Group

Nature genetics 34 (2003), S. 42-51

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Eukaryotic chromosomes are packaged in nuclei by many orders of folding. Little is known about how higher-order chromatin packaging might affect gene expression. SATB1 is a cell-type specific nuclear protein that recruits chromatin-remodeling factors and regulates numerous genes during thymocyte ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1146

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Digitale Medien

Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders (2003)

Jones, Bethan ; Jones, Emma L. ; Bonney, Stephanie A. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 34 (2003), S. 29-31

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Dietary fat is an important source of nutrition. Here we identify eight mutations in SARA2 that are associated with three severe disorders of fat malabsorption. The Sar1 family of proteins initiates the intracellular transport of proteins in COPII (coat protein)-coated vesicles. Our data suggest ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1145

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Digitale Medien

Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis (2003)

Muckenthaler, Martina ; Roy, Cindy N. ; Custodio, Ángel O. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 34 (2003), S. 102-107

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Individuals with hereditary hemochromatosis suffer from systemic iron overload due to duodenal hyperabsorption. Most cases arise from a founder mutation in HFE (845G→A; ref. 2) that results in the amino-acid substitution C282Y and prevents the association of HFE with β2-microglobulin. ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1152

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Digitale Medien

The need for Eed (2003)

Reik, Wolf ; Ferguson-Smith, Anne C.

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 433-434

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Genomic imprinting, the process that causes genes to be expressed in a parental origin–specific manner, is a useful model for studying the epigenetic control of genome function in mammals. Parallels between the mechanisms of X inactivation and autosomal imprinting have been proposed. On page ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0403-433

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Digitale Medien

Erosion of the telomeric single-strand overhang at replicative senescence (2003)

Stewart, Sheila A. ; Ben-Porath, Ittai ; Carey, Vincent J. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 492-496

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Cultured primary human cells inevitably enter a state of replicative senescence for which the specific molecular trigger is unknown. We show that the single-strand telomeric overhang, a key component of telomere structure, is eroded at senescence. Expression of telomerase prevents overhang loss, ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1127

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Digitale Medien

Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans (2003)

Eberle, Michael A. ; Rieder, Mark J. ; Smith, Joshua D. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 518-521

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] More than 5 million single-nucleotide polymorphisms (SNPs) with minor-allele frequency greater than 10% are expected to exist in the human genome. Some of these SNPs may be associated with risk of developing common diseases. To assess the power of currently available SNPs to detect such ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1128

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Digitale Medien

A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome (2003)

O'Driscoll, Mark ; Ruiz-Perez, Victor L. ; Woods, C. Geoffrey ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 497-501

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Seckel syndrome (OMIM 210600) is an autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly and mental retardation. Clinically, Seckel syndrome shares features in common with disorders involving impaired DNA-damage responses, such as Nijmegen breakage ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1129

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Digitale Medien

Loss of neuropathy target esterase in mice links organophosphate exposure to hyperactivity (2003)

Winrow, Christopher J. ; Hemming, Matthew L. ; Allen, Duane M. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 477-485

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Neuropathy target esterase (NTE) is involved in neural development and is the target for neurodegeneration induced by selected organophosphorus pesticides and chemical warfare agents. We generated mice with disruptions in Nte, the gene encoding NTE. Nte−/− mice die after embryonic day ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1131

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Digitale Medien

Sir3p phosphorylation by the Slt2p pathway effects redistribution of silencing function and shortened lifespan (2003)

Ray, Alo ; Hector, Ronald E. ; Roy, Nilanjan ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 522-526

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] An organism's lifespan is modulated by environmental conditions. When nutrients are abundant, the metabolism of many organisms shifts to growth or reproduction at the expense of longer lifespan, whereas a scarcity of nutrients reverses this shift. These correlations suggest that organisms respond ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1132

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Digitale Medien

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome (2003)

Laudier, Béatrice ; Attié-Bitach, Tania ; Trang, Ha ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 459-461

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Congenital central hypoventilation syndrome (CCHS or Ondine's curse; OMIM 209880) is a life-threatening disorder involving an impaired ventilatory response to hypercarbia and hypoxemia. This core phenotype is associated with lower-penetrance anomalies of the autonomic nervous system (ANS) including ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1130

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Digitale Medien

Quality and completeness of SNP databases (2003)

Gabriel, Stacey B. ; Altshuler, David ; Reich, David E.

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 457-458

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] To address the quality and completeness of single-nucleotide polymorphism (SNP) databases, we resequenced 173 kb (spanning 17 loci) in 150 chromosomes of west African and European ancestry. Over 88% of SNPs in the public (TSC and BAC overlap) and Celera databases were confirmed in independent ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1133

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Digitale Medien

Molecular evolution meets the genomics revolution (2003)

Li, Wen-Hsiung ; Wolfe, Kenneth H.

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 255-265

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Changes in technology in the past decade have had such an impact on the way that molecular evolution research is done that it is difficult now to imagine working in a world without genomics or the Internet. In 1992, GenBank was less than a hundredth of its current size and was updated every three ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1088

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Digitale Medien

Neurotoxic esterase: not so toxic? (2003)

O'Callaghan, James P.

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 437-438

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Although of recent concern because of their use as chemical warfare agents, organophosphates have long been used as pesticides. As a class of compounds, organophosphate esters are widely recognized for their potential to inhibit serine-containing esterases owing to phosphorylation of serine ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1135

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Digitale Medien

A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis (2003)

Cooper, Michael K. ; Wassif, Christopher A. ; Krakowiak, Patrycja A. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 508-513

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Smith–Lemli–Opitz syndrome (SLOS), desmosterolosis and lathosterolosis are human syndromes caused by defects in the final stages of cholesterol biosynthesis. Many of the developmental malformations in these syndromes occur in tissues and structures whose embryonic patterning depends on ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1134

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Digitale Medien

Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals (2003)

Bird, Adrian ; Jaenisch, Rudolf

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 245-254

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Cells of a multicellular organism are genetically homogeneous but structurally and functionally heterogeneous owing to the differential expression of genes. Many of these differences in gene expression arise during development and are subsequently retained through mitosis. Stable alterations of ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1089

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Digitale Medien

Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease (2003)

Risch, Neil ; Botstein, David

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 228-237

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The past two decades have witnessed an explosion in the identification, largely by positional cloning, of genes associated with mendelian diseases. The roughly 1,200 genes that have been characterized have clarified our understanding of the molecular basis of human genetic disease. The principles ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1090

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Digitale Medien

Proteomics: the first decade and beyond (2003)

Aebersold, Ruedi H. ; Patterson, Scott D.

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 311-323

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Proteomics is the systematic study of the many and diverse properties of proteins in a parallel manner with the aim of providing detailed descriptions of the structure, function and control of biological systems in health and disease. Advances in methods and technologies have catalyzed an expansion ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1106

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Digitale Medien

The transformation of the model organism: a decade of developmental genetics (2003)

Ingham, Philip W. ; Anderson, Kathryn V.

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 285-293

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The past decade has seen the development of powerful techniques to dissect the molecular processes that regulate development. New tools have been used to reveal the basis of cell polarity, morphogen gradients and regulation of signaling in developing animals. Cell biology and developmental biology ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1105

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Digitale Medien

The genetics and genomics of cancer (2003)

Gray, Joe ; Ponder, Bruce ; Balmain, Allan

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 238-244

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The past decade has seen great strides in our understanding of the genetic basis of human disease. Arguably, the most profound impact has been in the area of cancer genetics, where the explosion of genomic sequence and molecular profiling data has illustrated the complexity of human malignancies. ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1107

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The genome era begins... (2003)

Roses, Allen D.

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 217-217

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Looking back on the last decade, the progress in the field of genetics stands out as a monumental achievement. The acceleration of the Human Genome Project and the public availability of the human genome sequence did not provide instant knowledge regarding all things genetic, as much of the lay ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1110

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Plant genetics: a decade of integration (2003)

Pruitt, Robert E. ; Bowman, John L. ; Grossniklaus, Ueli

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 294-304

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The last decade provided the plant science community with the complete genome sequence of Arabidopsis thaliana and rice, tools to investigate the function of potentially every plant gene, methods to dissect virtually any aspect of the plant life cycle, and a wealth of information on gene expression ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1108

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Digitale Medien

Bioinformatics in the post-sequence era (2003)

Bork, Peer ; Kanehisa, Minoru

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 305-310

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] In the past decade, bioinformatics has become an integral part of research and development in the biomedical sciences. Bioinformatics now has an essential role both in deciphering genomic, transcriptomic and proteomic data generated by high-throughput experimental technologies and in organizing ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1109

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The application of molecular genetic approaches to the study of human evolution (2003)

Cavalli-Sforza, L. Luca ; Feldman, Marcus W.

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 266-275

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The past decade of advances in molecular genetic technology has heralded a new era for all evolutionary studies, but especially the science of human evolution. Data on various kinds of DNA variation in human populations have rapidly accumulated. There is increasing recognition of the importance of ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1113

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The past as prelude (2003)

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 215-216

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] This year the scientific community commemorates the 50th anniversary of the determination of the structure of DNA. Just half a century since that pivotal report, we are anticipating the completion of one of the grandest enterprises undertaken in the sciences—the sequencing of the human ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1118

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Bankable assets? (2003)

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 325-326

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Despite concerns over how to ensure the privacy of genetic information and its fair use by researchers (see Nat. Genet. 3, 195–196 (2001)), population databases that combine genetic and other medical information are becoming more commonplace and increasingly ambitious in scope. The latest ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0303-325

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Tailoring the genome: the power of genetic approaches (2003)

Perrimon, Norbert ; Sandmeyer, Suzanne ; Plasterk, Ronald ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 276-284

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] In the last century, genetics has developed into one of the most powerful tools for addressing basic questions concerning inheritance, development, individual and social operations and death. Here we summarize the current approaches to these questions in four of the most advanced models organisms: ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1115

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Massive parallelism, randomness and genomic advances (2003)

Levy, Samuel ; Stockwell, Tim ; Remington, Karin ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 219-227

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] In reviewing the past decade, it is clear that genomics was, and still is, driven by innovative technologies, perhaps more so than any other scientific area in recent memory. From the outset, computing, mathematics and new automated laboratory techniques have been key components in allowing the ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1114

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Myelin: not just a conduit for conduction (2003)

Popko, Brian

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 327-328

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] On page 366, Corinna Lappe-Siefke and colleagues add a new twist to the developing story of myelin's role in the support of axonal survival by generating a mouse lacking Cnp1, which encodes 2′,3′-cyclic nucleotide phosphodiesterase (Cnp), a relatively minor component of myelin. The ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0303-327

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Connecting the dots (2003)

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 332-332

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The accompanying photograph seems at first glance to capture a straightforward fluorescence in situ hybridization experiment, with each colored dot representing a tagged probe bound to a particular locus. But the details of the data tell an intriguing story. The image is taken from findings ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0303-332

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Digitale Medien

Intoxicated cells and stomach ulcers (2003)

Peek, Richard M.

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 328-330

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The human stomach has long been regarded as a biological sanctuary, and although curved bacilli had occasionally been visualized adjacent to the gastric epithelium, their relationship to disease remained obscure until Marshall and Warren's seminal report relating the presence of these organisms, ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0303-328

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Fibrillin controls TGF-β activation (2003)

Kaartinen, Vesa ; Warburton, David

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 331-332

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] TGF-βs (refs. 1–3) are multifunctional growth factors that are capable of inducing a spectrum of cellular events including proliferation, cell cycle arrest, differentiation, programmed cell death and matrix deposition. They are synthesized as prepropolypeptides that are proteolytically ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0303-331

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Digitale Medien

Touching base (2003)

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 333-333

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] God and man at Texas Tech The conflict between creationists and evolutionists comes up routinely on college campuses, but is often as much about religious rights and academic freedom as it is about faith in God and the dawn of man. These debates go largely unnoticed by those off campus, but this ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0303-333

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Digitale Medien

Microarray analysis made simple (2003)

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 335-335

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The field of DNA microarray data analysis is getting increasingly complicated as scientists develop new array technologies and analysis algorithms, yet accurate introductory information on the subject is hard to come by. Steen Knudsen's eminently readable (and skimable) A Biologist's Guide to ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0303-335

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Digitale Medien

Is Tsix repression of Xist specific to mouse? (2003)

Migeon, Barbara R.

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 337-337

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Because X-chromosome inactivation is a uniquely mammalian method of dosage compensation and much of the mammalian X chromosome has been conserved, the mechanisms underlying the single active X are probably the same for most mammals. But some features differ, even among tissues of an individual. ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0303-337a

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Reply to "Is Tsix repression of Xist specific to mouse?" (2003)

Lee, Jeannie T.

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 337-338

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Thema: Biologie , Medizin

Notizen: [Auszug] —In reply Migeon argues that the regulation of X-chromosome inactivation differs considerably between mice and humans. Specifically, she suggests that antisense regulation of Xist by Tsix occurs only in mice, where the antisense Tsix blocks Xist expression during both imprinted and random X ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0303-337b

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t(11;19)(q21;p13) translocation in mucoepidermoid carcinoma creates a novel fusion product that disrupts a Notch signaling pathway (2003)

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 430-430

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Thema: Biologie , Medizin

Notizen: [Auszug] Nat. Genet. 33, 208–213 (2003). After the authors returned corrected proofs, some changes to Figure 5 were mistakenly omitted from the final version. In Figure 5c, C21orf33 should read HES1 and in Figure 5d HRY should read HES1. A corrected version of Figure 5 appears below. ... ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0303-430

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Digitale Medien

Distinct t(7;9)(q34;q32) breakpoints in healthy individuals and individuals with T-ALL (2003)

Marculescu, Rodrig ; Vanura, Katrina ; Le, Trang ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 342-344

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] After V(D)J-mediated translocations, signal joints are retained on one of the derivative chromosomes. We report here that such signal joints are highly reactive and constitute unstable genomic elements with potential oncogenic properties. In T-cell acute lymphoblastic leukemia (T-ALL), at ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1092

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Digitale Medien

The codon 72 polymorphic variants of p53 have markedly different apoptotic potential (2003)

Dumont, Patrick ; Leu, J. I-Ju ; Della Pietra, Anthony C. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 357-365

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The gene TP53, encoding p53, has a common sequence polymorphism that results in either proline or arginine at amino-acid position 72. This polymorphism occurs in the proline-rich domain of p53, which is necessary for the protein to fully induce apoptosis. We found that in cell lines containing ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1093

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Digitale Medien

An epi-allelic series of p53 hypomorphs created by stable RNAi produces distinct tumor phenotypes in vivo (2003)

Hemann, Michael T. ; Fridman, Jordan S. ; Zilfou, Jack T. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 396-400

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The application of RNA interference (RNAi) to mammalian systems has the potential to revolutionize genetics and produce novel therapies. Here we investigate whether RNAi applied to a well-characterized gene can stably suppress gene expression in hematopoietic stem cells and produce detectable ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1091

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Digitale Medien

Natural variation in human gene expression assessed in lymphoblastoid cells (2003)

Conlin, Laura K. ; Weber, Teresa M. ; Arcaro, Melissa ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 422-425

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The sequencing of the human genome has resulted in greater attention to genetic variation among individuals, and variation at the DNA sequence level is now being extensively studied. At the same time, it has become possible to study variation at the level of gene expression by various methods. At ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1094

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Digitale Medien

Disruption of Cnp1 uncouples oligodendroglial functions in axonal support and myelination (2003)

Lappe-Siefke, Corinna ; Goebbels, Sandra ; Gravel, Michel ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 366-374

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Myelination of axons by oligodendrocytes enables rapid impulse propagation in the central nervous system. But long-term interactions between axons and their myelin sheaths are poorly understood. Here we show that Cnp1, which encodes 2′,3′-cyclic nucleotide phosphodiesterase in ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1095

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Digitale Medien

Chromosome 6q25 is linked to susceptibility to leprosy in a Vietnamese population (2003)

Mira, Marcelo T. ; Alcaïs, Alexandre ; Van Thuc, Nguyen ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 412-415

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Leprosy, a chronic infectious disease caused by Mycobacterium leprae, affects an estimated 700,000 persons each year. Clinically, leprosy can be categorized as paucibacillary or multibacillary disease. These clinical forms develop in persons that are intrinsically susceptible to leprosy per se, ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1096

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Digitale Medien

Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia (2003)

Tanner, Stephan M. ; Aminoff, Maria ; Wright, Fred A. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 426-429

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The amnionless gene, Amn, on mouse chromosome 12 encodes a type I transmembrane protein that is expressed in the extraembryonic visceral layer during gastrulation. Mice homozygous with respect to the amn mutation generated by a transgene insertion have no amnion. The embryos are severely ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1098

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Digitale Medien

Notch1 functions as a tumor suppressor in mouse skin (2003)

Nicolas, Michael ; Wolfer, Anita ; Raj, Kenneth ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 416-421

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Notch proteins are important in binary cell-fate decisions and inhibiting differentiation in many developmental systems, and aberrant Notch signaling is associated with tumorigenesis. The role of Notch signaling in mammalian skin is less well characterized and is mainly based on in vitro studies, ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1099

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Digitale Medien

Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots (2003)

Phillips, M.S. ; Lawrence, R. ; Sachidanandam, R. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 382-387

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Recent studies of human populations suggest that the genome consists of chromosome segments that are ancestrally conserved ('haplotype blocks'; refs. 1–3) and have discrete boundaries defined by recombination hot spots. Using publicly available genetic markers, we have constructed a ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1100

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Digitale Medien

Impaired response to interferon-α/β and lethal viral disease in human STAT1 deficiency (2003)

Dupuis, Stéphanie ; Jouanguy, Emmanuelle ; Al-Hajjar, Sami ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 388-391

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The receptors for interferon-α/β (IFN-α/β) and IFN-γ activate components of the Janus kinase–signal transducer and activator of transcription (JAK–STAT) signaling pathway, leading to the formation of at least two transcription factor complexes. STAT1 ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1097

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79

Digitale Medien

The study of macromolecular complexes by quantitative proteomics (2003)

Ranish, Jeffrey A. ; Yi, Eugene C. ; Leslie, Deena M. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 349-355

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We describe a generic strategy for determining the specific composition, changes in the composition, and changes in the abundance of protein complexes. It is based on the use of isotope-coded affinity tag (ICAT) reagents and mass spectrometry to compare the relative abundances of tryptic peptides ...

Materialart: Digitale Medien

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

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80

Digitale Medien

Coordination of the random asynchronous replication of autosomal loci (2003)

Singh, Nandita ; Ebrahimi, Farah A.W. ; Gimelbrant, Alexander A. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 339-341

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Random monoallelic expression and asynchronous replication define an unusual class of autosomal mammalian genes. We show that every cell has randomly chosen either the maternal or paternal copy of each given autosome pair, such that alleles of these genes scattered across the chosen chromosome ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1102

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81

Digitale Medien

Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease (2003)

te Morsche, Rene H.M. ; Smink, Renate ; Bonifacino, Juan S. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 345-347

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Polycystic liver disease (PCLD, OMIM 174050) is a dominantly inherited condition characterized by the presence of multiple liver cysts of biliary epithelial origin. Fine mapping established linkage to marker D19S581 (Zmax = 9.65; θ = 0.01) in four large Dutch families with PCLD. We identified ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1104

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82

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Evidence for co-evolution of gene order and recombination rate (2003)

Pál, Csaba ; Hurst, Laurence D.

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 392-395

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] There is increasing evidence in eukaryotic genomes that gene order is not random, even allowing for tandem duplication. Notably, in numerous genomes, genes of similar expression tend to be clustered. Are there other reasons for clustering of functionally similar genes? If genes are linked to enable ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1111

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83

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Dysregulation of TGF-β activation contributes to pathogenesis in Marfan syndrome (2003)

Neptune, Enid R. ; Frischmeyer, Pamela A. ; Arking, Dan E. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 407-411

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Marfan syndrome is an autosomal dominant disorder of connective tissue caused by mutations in fibrillin-1 (encoded by FBN1 in humans and Fbn1 in mice), a matrix component of extracellular microfibrils. A distinct subgroup of individuals with Marfan syndrome have distal airspace enlargement, ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1116

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84

Digitale Medien

Mice deficient in protein tyrosine phosphatase receptor type Z are resistant to gastric ulcer induction by VacA of Helicobacter pylori (2003)

Fujikawa, Akihiro ; Shirasaka, Daisuke ; Yamamoto, Shoichi ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 375-381

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The vacuolating cytotoxin VacA produced by Helicobacter pylori causes massive cellular vacuolation in vitro and gastric tissue damage in vivo, leading to gastric ulcers, when administered intragastrically. Here we report that mice deficient in protein tyrosine phosphatase receptor type Z (Ptprz, ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1112

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A lentivirus-based system to functionally silence genes in primary mammalian cells, stem cells and transgenic mice by RNA interference (2003)

Rubinson, Douglas A ; Dillon, Christopher P ; Kwiatkowski, Adam V ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 401-406

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] RNA interference (RNAi) has recently emerged as a specific and efficient method to silence gene expression in mammalian cells either by transfection of short interfering RNAs (siRNAs; ref. 1) or, more recently, by transcription of short hairpin RNAs (shRNAs) from expression vectors and ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1117

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Organizing mRNA export (2003)

Keene, Jack D.

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 111-112

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] It is not surprising that molecular processes are interconnected in living cells. The coupling of transcription and translation in bacteria provides a pathway through which a transcriptionally regulated event can be projected to the protein synthesis machinery to ensure the intended genetic ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0203-111

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Surprise ending (2003)

Sedivy, John M. ; Shakirov, Eugene V. ; Shippen, Dorothy E.

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 114-116

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Thema: Biologie , Medizin

Notizen: [Auszug] Telomeres are found at the ends of all linear chromosomes and comprise a long stretch of simple repeat DNA (see figure) bound by specialized proteins. The ensuing structure protects chromosomes from end-to-end fusion, thus maintaining genome stability. Telomeres can be elongated independently of ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0203-114

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From Cambridge to Srebrenica (2003)

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 109-110

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] In his introduction to the Norton critical edition of James Watson's The Double Helix (that “tactless and truly remarkable book,” in Alex Comfort's words), Gunther Stent wrote of learning in a high school history class that the Renaissance began precisely on 29 May 1453, with the fall ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0203-109

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Dissecting dyskeratosis (2003)

Meier, U. Thomas

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 116-117

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The X-linked form of dyskeratosis congenita (DC) is caused by mutations in DKC1, encoding dyskerin, formerly known as NAP57 (ref. 2), or Cbf5 in yeast. Dyskerin is an essential structural component of small nucleolar RNA-protein complexes (snoRNPs) and of the mammalian telomerase RNP. Although DC ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0203-116

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Touching base (2003)

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 119-119

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The pill...for men? Attempts to create an oral contraceptive for men have generally fallen limp because of the unpleasant side effects of the drugs being tested. Namely, testosterone levels fall and the subjects are either uninterested in copulation or unable to perform. A study published in the ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0203-119

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Sciona and genetic testing (2003)

Roberts, Gareth ; Grimaldi, Keith

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 121-121

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We were disappointed in the tenor of your recent editorial. Our goal is the translation of genetics research and technology into services and products that benefit patients and consumers. We agree with the thoughts expressed by Ledley that “radical reassessment of healthcare delivery models ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0203-121

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92

Digitale Medien

Mutations in NR4A2 associated with familial Parkinson disease (2003)

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 214-214

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Nat. Genet. 33, 85–89 (2003). On page 86, right column, second paragraph, the first line should read, “We carried out haplotype analysis for three available ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0203-214

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93

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iASPP oncoprotein is a key inhibitor of p53 conserved from worm to human (2003)

Bergamaschi, Daniele ; Samuels, Yardena ; O'Neil, Nigel J. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 162-167

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We have previously shown that ASPP1 and ASPP2 are specific activators of p53; one mechanism by which wild-type p53 is tolerated in human breast carcinomas is through loss of ASPP activity. We have further shown that 53BP2, which corresponds to a C-terminal fragment of ASPP2, acts as a dominant ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1070

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94

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Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease (2003)

Lohmueller, Kirk E. ; Pearce, Celeste L. ; Pike, Malcolm ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 177-182

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Association studies offer a potentially powerful approach to identify genetic variants that influence susceptibility to common disease, but are plagued by the impression that they are not consistently reproducible. In principle, the inconsistency may be due to false positive studies, false negative ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1071

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95

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Heterozygosity with respect to Zfp148 causes complete loss of fetal germ cells during mouse embryogenesis (2003)

Takeuchi, Akihide ; Mishina, Yuji ; Miyaishi, Osamu ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 172-176

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Zfp148 belongs to a large family of C2H2-type zinc-finger transcription factors. Zfp148 is expressed in fetal germ cells in 13.5-d-old (E13.5) mouse embryos. Germ-line transmission of mutations were not observed in chimeric Zfp148+/− mice, and some of these mice completely lacked ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1072

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96

Digitale Medien

Nuclear genetic control of mitochondrial DNA segregation (2003)

Battersby, Brendan J. ; Loredo-Osti, J.C. ; Shoubridge, Eric A.

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 183-186

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Mammalian mitochondrial DNA (mtDNA) is a high copy-number, maternally inherited genome that codes for a small number of essential proteins involved in oxidative phosphorylation. Mutations in mtDNA are responsible for a broad spectrum of clinical disorders. The segregation pattern of pathogenic ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1073

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97

Digitale Medien

Retroelements containing introns in diverse invertebrate taxa (2003)

Arkhipova, Irina R. ; Pyatkov, Konstantin I. ; Evgen'ev, Michael B. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 123-124

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We report that two structurally similar transposable elements containing reverse transcriptase (RT), Penelope in Drosophila virilis and Athena in bdelloid rotifers, have proliferated as copies containing introns. The ability of Penelope-like elements (PLEs) to retain introns, their separate ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1074

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98

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Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells (2003)

Nauli, Surya M. ; Alenghat, Francis J. ; Luo, Ying ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 129-137

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Several proteins implicated in the pathogenesis of polycystic kidney disease (PKD) localize to cilia. Furthermore, cilia are malformed in mice with PKD with mutations in TgN737Rpw (encoding polaris). It is not known, however, whether ciliary dysfunction occurs or is relevant to cyst formation in ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1076

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99

Digitale Medien

Heterozygous disruption of Hic1 predisposes mice to a gender-dependent spectrum of malignant tumors (2003)

Chen, Wen Yong ; Zeng, Xiaobei ; Carter, Mark G. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 197-202

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The gene hypermethylated in cancer-1 (HIC1) encodes a zinc-finger transcription factor that belongs to a group of proteins known as the POZ family. HIC1 is hypermethylated and transcriptionally silent in several types of human cancer. Homozygous disruption of Hic1 impairs development and results in ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1077

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100

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Zygote arrest 1 ( Zar1 ) is a novel maternal-effect gene critical for the oocyte-to-embryo transition (2003)

Wu, Xuemei ; Viveiros, Maria M. ; Eppig, John J. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 33 (2003), S. 187-191

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The female gamete (the oocyte) serves the distinct purpose of transmitting the maternal genome and other maternal factors that are critical for post-ovulation events. Through the identification and characterization of oocyte-specific factors, we are beginning to appreciate the diverse functions of ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1079

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