Showing Results for
- Academic Journals (30)
Search Results
- 30
Academic Journals
- 30
- Search Terms:
- 1From: Nature Genetics. (Vol. 44, Issue 8) Peer-ReviewedThe 1000 Genomes Project and disease-specific sequencing efforts are producing large collections of haplotypes that can be used as reference panels for genotype imputation in genome-wide association studies (GWAS)....
- 2From: Nature Genetics. (Vol. 44, Issue 8) Peer-ReviewedThe cellular basis of neurodevelopmental disorders, such as autism, is not well understood, and it is important to establish in vitro models that recapitulate neural development in humans. Now, Flora Vaccarino and...
- 3From: Nature Genetics. (Vol. 44, Issue 8) Peer-ReviewedA predisposition for thoracic aortic aneurysms leading to acute aortic dissections can be inherited in families in an autosomal dominant manner. Genome-wide linkage analysis of two large unrelated families with thoracic...
- 4From: Nature Genetics. (Vol. 44, Issue 8) Peer-ReviewedDomestic yaks (Bos grunniens) provide meat and other necessities for Tibetans living at high altitude on the Qinghai-Tibetan Plateau and in adjacent regions. Comparison between yak and the closely related low-altitude...
- 5From: Nature Genetics. (Vol. 44, Issue 8) Peer-ReviewedTwo new studies report mutations in FAN1 and three other genome-stability genes that tie the DNA damage response to progressive kidney failure and the dysfunction of several other organs. These findings provide clues to...
- 6From: Nature Genetics. (Vol. 44, Issue 8) Peer-ReviewedGregory Crawford and colleagues take a useful approach to consider how regulatory elements contribute to gene expression differences and evolution between primate species (PLoS Genet. 8, e1002789, 2012). The authors...
- 7From: Nature Genetics. (Vol. 44, Issue 8) Peer-ReviewedChronic kidney disease (CKD), impairment of kidney function, is a serious public health problem, and the assessment of genetic factors influencing kidney function has substantial clinical relevance. Here, we report a...
- 8From: Nature Genetics. (Vol. 44, Issue 8) Peer-ReviewedOver the last decade, the genome-wide study of both heritable and somatic human variability has gone from a theoretical concept to a broadly implemented, practical reality, covering the entire spectrum of human disease....
- 9From: Nature Genetics. (Vol. 44, Issue 8) Peer-ReviewedThe 17q21.31 inversion polymorphism exists either as direct (H1) or inverted (H2) haplotypes with differential predispositions to disease and selection. We investigated its genetic diversity in 2,700 individuals, with...
- 10From: Nature Genetics. (Vol. 44, Issue 8) Peer-ReviewedTo find additional susceptibility loci for lung cancer, we tested promising associations from our previous genome-wide association study (GWAS) (1) of lung cancer in the Chinese population in an extended validation...
- 11From: Nature Genetics. (Vol. 44, Issue 8) Peer-ReviewedHuman non-small cell lung cancers (NSCLCs) with activating mutations in EGFR frequently respond to treatment with EGFRtargeted tyrosine kinase inhibitors (TKIs), such as erlotinib, but responses are not durable, as...
- 12From: Nature Genetics. (Vol. 44, Issue 8) Peer-ReviewedSilencing of multicopy transgenes is thought to occur via pro duction of double-stranded RNAs, which are processed by Dicer to small interfering RNAs (siRNAs) that are loaded onto Argonaute proteins to target...
- 13From: Nature Genetics. (Vol. 44, Issue 8) Peer-ReviewedThe phosphatidylinositol 3-kinase (PI3K)-AKT signaling pathway is critical for cellular growth and metabolism. Correspondingly, loss of function of PTEN, a negative regulator of PI3K, or activating mutations in AKT1,...
- 14From: Nature Genetics. (Vol. 44, Issue 8) Peer-ReviewedExome sequencing has become a powerful and effective strategy for the discovery of genes underlying Mendelian disorders (1). However, use of exome sequencing to identify variants associated with complex traits has been...
- 15From: Nature Genetics. (Vol. 44, Issue 8) Peer-ReviewedThe field of population genetics lost an elder statesman on 4 January 2012 when James F. (Jim) Crow died just short of his 96th birthday. Jim was a major contributor to the literature of genetics, with nearly 250...
- 16From: Nature Genetics. (Vol. 44, Issue 8) Peer-ReviewedFamiliarity with developments in all areas of genetics--from the trained intuition of dysmorphology to algorithms for SNP calling in next-generation sequencing--is extraordinarily productive in research and clinical...
- 17From: Nature Genetics. (Vol. 44, Issue 8) Peer-ReviewedChronic kidney disease (CKD) represents a major health burden (1). Its central feature of renal fibrosis is not well understood. By exome sequencing, we identified mutations in FAN1 as a cause of karyomegalic...
- 18From: Nature Genetics. (Vol. 44, Issue 8) Peer-ReviewedModern tomato breeding practices have selected for fruit with a uniform light-green color before ripening, a trait that promotes even ripening at the cost of reducing fruit sugar content. This trait, which is determined...
- 19From: Nature Genetics. (Vol. 44, Issue 8) Peer-ReviewedTwo new studies show that haploinsufficiency for TGFB2 causes a familial syndrome of thoracic aortic aneurysms and dissections with other clinical features that overlap the Marfan, Loeys-Dietz spectrum of syndromes....
- 20From: Nature Genetics. (Vol. 44, Issue 8) Peer-ReviewedGenome-wide association studies (GWAS) search for associations between genetic variants and disease status, typically via logistic regression. Often there are covariates, such as sex or well-established major genetic...