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- 1From: Nature Genetics. (Vol. 43, Issue 8) Peer-ReviewedKonstantinos J Mavrakis, Joni Van Der Meulen, Andrew L Wolfe, Xiaoping Liu, Evelien Mets, Tom Taghon, Aly A Khan, Manu Setti, Pieter Rondou, Peter Vandenberghe, Eric Delabesse, Yves Benoit, Nicholas B Socci, Christina S...
- 2From: Nature Genetics. (Vol. 43, Issue 8) Peer-ReviewedBohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial features and multiple congenital malformations. We sequenced the exomes of three individuals with Bohring-Opitz syndrome and...
- 3From: Nature Genetics. (Vol. 43, Issue 8) Peer-ReviewedCarlos Bustamante and colleagues estimate the allele frequency spectrum of genetic variants across continental human populations on the basis of an analysis of 1000 Genomes Project data sets (Proc. Natl. Acad. Sci. USA...
- 4From: Nature Genetics. (Vol. 43, Issue 8) Peer-ReviewedThe ratio of genetic diversity on chromosome X to that on the autosomes is sensitive to both natural selection and demography. On the basis of whole-genome sequences of 69 females, we report that whereas this ratio...
- 5From: Nature Genetics. (Vol. 43, Issue 8) Peer-ReviewedElucidating how and to what extent CpG islands (CGIs) are methylated in germ cells is essential to understand genomic imprinting and epigenetic reprogramming (1-3). Here we present, to our knowledge, the first...
- 6From: Nature Genetics. (Vol. 43, Issue 8) Peer-ReviewedGray platelet syndrome (GPS) is a predominantly recessive platelet disorder that is characterized by mild thrombocytopenia with large platelets and a paucity of [alpha]-granules; these abnormalities cause mostly...
- 7From: Nature Genetics. (Vol. 43, Issue 8) Peer-ReviewedMutations affecting ciliary components cause ciliopathies. As described here, we investigated Tectonic1 (Tctn1), a regulator of mouse Hedgehog signaling, and found that it is essential for ciliogenesis in some, but not...
- 8From: Nature Genetics. (Vol. 43, Issue 8) Peer-ReviewedLusy Handoko, Han Xu, Guoliang Li, Chew Yee Ngan, Elaine Chew, Marie Schnapp, Charlie Wah Heng Lee, Chaopeng Ye, Joanne Lim Hui Ping, Fabianus Mulawadi, Eleanor Wong, Jianpeng Sheng, Yubo Zhang, Thompson Poh, Chee Seng...
- 9From: Nature Genetics. (Vol. 43, Issue 8) Peer-ReviewedGenome-wide association studies have identified 32 loci influencing body mass index, but this measure does not distinguish lean from fat mass. To identify adiposity loci, we meta-analyzed associations between ~2.5...
- 10From: Nature Genetics. (Vol. 43, Issue 8) Peer-ReviewedNoncoding variants at human chromosome 9p21 near CDKN2A and CDKN2B are associated with type 2 diabetes (1-4), myocardial infarction (5-7), aneurysm (8), vertical cup disc ratio (9) and at least five cancers (10-16)....
- 11From: Nature Genetics. (Vol. 43, Issue 8) Peer-ReviewedThe human genome contains large areas with hypervariable DNA methylation that are associated with deregulation of gene expression. This epigenetic variation may be necessary for differentiation, but it also provides a...
- 12From: Nature Genetics. (Vol. 43, Issue 8) Peer-ReviewedAnkylosing spondylitis is a common form of inflammatory arthritis predominantly affecting the spine and pelvis that occurs in approximately 5 out of 1,000 adults of European descent. Here we report the identification of...
- 13From: Nature Genetics. (Vol. 43, Issue 8) Peer-ReviewedThe capacity to discriminate between self and nonself is a critical trait for most organisms. The social amoebae Dictyostelium discoideum can aggregate and form multicellular fruiting bodies in which 20-30% of cells...
- 14From: Nature Genetics. (Vol. 43, Issue 8) Peer-ReviewedThere is emerging evidence that people with successfully treated HIV infection age prematurely, leading to progressive multi-organ disease (1), but the reasons for this are not known. Here we show that patients treated...
- 15From: Nature Genetics. (Vol. 43, Issue 8) Peer-ReviewedNext-generation RNA sequence analysis of platelets from an individual with autosomal recessive gray platelet syndrome (GPS, MIM139090) detected abnormal transcript reads, including intron retention, mapping to NBEAL2...
- 16From: Nature Genetics. (Vol. 43, Issue 8) Peer-ReviewedAlthough Nature Genetics generally urges authors to keep their claims within the research arena, basic research occasionally turns up results that are ready for immediate application. In these cases we aim to assign...
- 17From: Nature Genetics. (Vol. 43, Issue 8) Peer-ReviewedProstate cancer (PrCa) is the most frequently diagnosed male cancer in developed countries. We conducted a multi-stage genome-wide association study for PrCa and previously reported the results of the first two stages,...
- 18From: Nature Genetics. (Vol. 43, Issue 8) Peer-ReviewedSomatic mutations in mitochondrial DNA build up in aging tissues and are thought to contribute to physiological aging. Surprisingly, it is not known if these mutations occur early or late in life. A new study looks at...
- 19From: Nature Genetics. (Vol. 43, Issue 8) Peer-ReviewedGray platelet syndrome (GPS) is an autosomal recessive bleeding disorder that is characterized by large platelets that lack a-granules. Here we show that mutations in NBEAL2 (neurobeachin-like 2), which encodes a...
- 20From: Nature Genetics. (Vol. 43, Issue 8) Peer-ReviewedFormaldehyde-assisted isolation of regulatory elements (FAIRE) identifies regions of open chromatin that indicate sites of regulatory activity. Now Dirk Paul and colleagues report FAIRE-generated maps of open chromatin...