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- 1From: Nature Genetics. (Vol. 40, Issue 4) Peer-ReviewedSalome Waelsch, university professor emerita at Albert Einstein College of Medicine in the Bronx, New York, died on November 7, 2007, just a month after her 100th birthday. She was a remarkable woman who persevered...
- 2From: Nature Genetics. (Vol. 40, Issue 4) Peer-ReviewedSerum uric acid concentrations are correlated with gout and clinical entities such as cardiovascular disease and diabetes. In the genome-wide association study KORA (Kooperative Gesundheitsforschung in der Region...
- 3From: Nature Genetics. (Vol. 40, Issue 4) Peer-ReviewedPrimary miRNA transcripts are processed to mature miRNAs through the activity of the Microprocessor complex; for some miRNAs, this critical processing step seems to be developmentally regulated. Richard Gregory and...
- 4From: Nature Genetics. (Vol. 40, Issue 4) Peer-ReviewedGermline mutations in STK11 (also known as LKB1) are found in individuals with Peutz-Jeghers syndrome (PJS) (1) manifesting with gastrointestinal polyps that contain a prominent stromal component. Epithelia in polyps of...
- 5From: Nature Genetics. (Vol. 40, Issue 4) Peer-ReviewedThe miR-17-92 cluster of microRNAs has been implicated in tumorigenesis because it is frequently overexpressed in different tumor types, including B-cell lymphomas. Tyler Jacks and colleagues have created a targeted...
- 6From: Nature Genetics. (Vol. 40, Issue 4) Peer-ReviewedWe report the first identified mutation in the gene encoding human cytochrome c (CYCS). Glycine 41, invariant throughout eukaryotes, is substituted by serine in a family with autosomal dominant thrombocytopenia caused by...
- 7From: Nature Genetics. (Vol. 40, Issue 4) Peer-ReviewedCommunicating the details of science to nonspecialists is intrinsically hard because research entails specialized techniques for empirical testing of counterintuitive ideas. Public imagination may be more readily seized...
- 8From: Nature Genetics. (Vol. 40, Issue 4) Peer-ReviewedUric acid is the end product of purine metabolism in humans and great apes, which have lost hepatic uricase activity, leading to uniquely high serum uric acid concentrations (200-500 µM) compared with other mammals...
- 9From: Nature Genetics. (Vol. 40, Issue 4) Peer-ReviewedWhen cytochrome c is released from mitochondria, it interacts with Apaf-1 to activate death-promoting caspases. Now, a gain-of-function mutation affecting cytochrome c with enhanced caspase-stimulatory activity is shown...
- 10From: Nature Genetics. (Vol. 40, Issue 4) Peer-ReviewedSWI/SNF, an evolutionarily conserved ATP-dependent chromatin-remodeling complex, has an important role in transcriptional regulation (1). In Saccharomyces cerevisiae, SWI/SNF regulates the expression of ~6% of total...
- 11From: Nature Genetics. (Vol. 40, Issue 4) Peer-ReviewedNon-additive genetic interactions contribute to many genetic disorders, but they are extremely difficult to predict. Here we show that genetic interactions identified in yeast, unlike gene functions or protein...
- 12From: Nature Genetics. (Vol. 40, Issue 4) Peer-ReviewedMeckel-Gruber syndrome (MKS) is a genetically heterogeneous, neonatally lethal malformation and the most common form of syndromic neural tube defect (NTD). To date, several MKS-associated genes have been identified whose...
- 13From: Nature Genetics. (Vol. 40, Issue 4) Peer-ReviewedFollowing on recent efforts to identify common variants influencing breast cancer risk, Kenneth Offit and colleagues (Proc. Natl. Acad. Sci. USA 105, 4340-4345; 2008) report results of a genome-wide association study for...
- 14From: Nature Genetics. (Vol. 40, Issue 4) Peer-ReviewedDifferent expression of the two alleles of a gene can indicate a regulatory polymorphism or the presence of epigenetic regulation. David Serre and Thomas Hudson and colleagues report the use of an array-based...
- 15From: Nature Genetics. (Vol. 40, Issue 4) Peer-ReviewedMitochondrial DNA (mtDNA) mutations are thought to have a causal role in many age-related pathologies. Here we identify mtDNA deletions as a driving force behind the premature aging phenotype of mitochondrial mutator...
- 16From: Nature Genetics. (Vol. 40, Issue 4) Peer-ReviewedInfectious pathogens are surmised to initiate many complex human diseases, but finding causative organisms has often proven difficult. Now, two independent studies report the application of high-throughput pyrosequencing...
- 17From: Nature Genetics. (Vol. 40, Issue 4) Peer-ReviewedWe mapped regulatory loci for nearly all protein-coding genes in mammals using comparative genomic hybridization and expression array measurements from a panel of mouse-hamster radiation hybrid cell lines. The large...
- 18From: Nature Genetics. (Vol. 40, Issue 4) Peer-ReviewedThe widespread use of elite sires by means of artificial insemination in livestock breeding leads to the frequent emergence of recessive genetic defects, which cause significant economic and animal welfare concerns. Here...
- 19From: Nature Genetics. (Vol. 40, Issue 4) Peer-ReviewedCecile Janssens and colleagues report a critical assessment of genetic associations that form the basis for genomic profiles used by companies in offering advice on personalized nutrition (Am. J. Hum. Genet. 82, 593-599;...
- 20From: Nature Genetics. (Vol. 40, Issue 4) Peer-ReviewedA Guinea Pig's History of Biology By Jim Endersby Harvard University Press, 2007 544 pp., hardcover, $27.95 ISBN 978-0674027138 Open this book to its table of contents, and you think you know what you are...