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- 1From: Nature Genetics. (Vol. 44, Issue 2) Peer-ReviewedEileen Furlong and colleagues report the development and application of BiTS-ChIP (batch isolate tissue specific chromatin immunoprecipitation), in which a tagged nuclear protein is expressed in developing cells of...
- 2From: Nature Genetics. (Vol. 44, Issue 2) Peer-ReviewedOne of the most striking properties of RNA interference (RNAi) in Caenorhabditis elegans is its persistence in offspring after the triggering double-stranded RNA MsRNA) has disappeared. a new study reveals that a...
- 3From: Nature Genetics. (Vol. 44, Issue 2) Peer-ReviewedWe performed a two-stage genome-wide association study of IgA nephropathy (IgAN) in Han Chinese, with 1,434 affected individuals (cases) and 4,270 controls in the discovery phase and follow-up of the top 61 SNPs in an...
- 4From: Nature Genetics. (Vol. 44, Issue 2) Peer-ReviewedThe human ATP-binding cassette (ABC) transporter ABCB6 has been described as a mitochondrial porphyrin transporter essential for heme biosynthesis (1), but it is also suspected to contribute to anticancer drug...
- 5From: Nature Genetics. (Vol. 44, Issue 2) Peer-ReviewedDetecting genetic variants that are highly divergent from a reference sequence remains a major challenge in genome sequencing. We introduce de novo assembly algorithms using colored de Bruijn graphs for detecting and...
- 6From: Nature Genetics. (Vol. 44, Issue 2) Peer-ReviewedDesert locusts alternate between solitary and gregarious lifestyles. In the solitary phase, locusts avoid conspecifics, have cryptic appearance and behavior, move slowly and eat restricted diets. In contrast, gregarious...
- 7From: Nature Genetics. (Vol. 44, Issue 2) Peer-Reviewed
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans
Ichthyoses comprise a heterogeneous group of genodermatoses characterized by abnormal desquamation over the whole body, for which the genetic causes of several human forms remain unknown. We used a spontaneous dog model... - 8From: Nature Genetics. (Vol. 44, Issue 2) Peer-ReviewedA new study reports SNP genotypes of over 1,300 Arabidopsis thaliana accessions from throughout Eurasia, providing a resource for genome-wide association studies and studies of local adaptation. The extensive data are...
- 9From: Nature Genetics. (Vol. 44, Issue 2) Peer-ReviewedThe inability to identify the molecular causes of disease has led to a disappointing rate of development of new medicines. By combining the power of community-based modeling with broad access to large datasets on a...
- 10From: Nature Genetics. (Vol. 44, Issue 2) Peer-ReviewedTo the Editor: Genome-wide association studies (GWAS) of complex human traits have become an important approach in human genetics. Taken together, GWAS are arguably the largest biological investigations of humans...
- 11From: Nature Genetics. (Vol. 44, Issue 2) Peer-ReviewedNon-obstructive azoospermia (NOA) is one of the most severe forms of male infertility. Its pathophysiology is largely unknown, and few genetic influences have been defined. To identify common variants contributing to...
- 12From: Nature Genetics. (Vol. 44, Issue 2) Peer-ReviewedArabidopsis thaliana is native to Eurasia and is naturalized across the world. Its ability to be easily propagated and its high phenotypic variability make it an ideal model system for functional, ecological and...
- 13From: Nature Genetics. (Vol. 44, Issue 2) Peer-ReviewedThe Creative Destruction of Medicine: How the Digital Revolution Will Create Better Healthcare Eric Topol Basic Books, 2012 320 pp., hardcover, $56.99 ISBN:0465025501 As a professor of cardiology, Eric...
- 14From: Nature Genetics. (Vol. 44, Issue 2) Peer-ReviewedGermline mutations in DICER1 underlie a rare syndrome associated with susceptibility to pleuropulmonary blastoma, cystic nephroma and ovarian sex-cord stromal tumors. David Huntsman, Gregg Morin and colleagues (N. Engl....
- 15From: Nature Genetics. (Vol. 44, Issue 2) Peer-ReviewedChromatin modifications are associated with many aspects of gene expression, yet their role in cellular transitions during development remains elusive. Here, we use a new approach to obtain cell type-specific...
- 16From: Nature Genetics. (Vol. 44, Issue 2) Peer-ReviewedAtopic dermatitis (AD) is a commonly occurring chronic skin disease with high heritability. Apart from filaggrin (FLG), the genes influencing atopic dermatitis are largely unknown. We conducted a genome-wide association...
- 17From: Nature Genetics. (Vol. 44, Issue 2) Peer-ReviewedTubulin glutamylation is a post-translational modification that occurs predominantly in the ciliary axoneme and has been suggested to be important for ciliary function (1,2). However, its relationship to disorders of...
- 18From: Nature Genetics. (Vol. 44, Issue 2) Peer-ReviewedThe genetic link between mutations in the MECP2 gene encoding the methyl-CpG-binding protein and Rett syndrome (RTT), an X-linked neurodevelopmental disorder affecting approximately 1 in l0,000 girls, was first reported...
- 19From: Nature Genetics. (Vol. 44, Issue 2) Peer-ReviewedGenomic duplications spanning Xq28 are associated with a spectrum of phenotypes, including anxiety and autism. The minimal region shared among affected individuals includes MECP2 and IRAK1, although it is unclear which...
- 20From: Nature Genetics. (Vol. 44, Issue 2) Peer-ReviewedHereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal-dominant central nervous system white-matter disease with variable clinical presentations, including personality and behavioral changes,...