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- 1From: Nature Genetics. (Vol. 44, Issue 5) Peer-ReviewedTomoo Ogi and colleagues report mutations of UVSSA causing a third complementation group of the UV-sensitive syndrome. UVSSA deficiency results in defective transcription-coupled nucleotide-excision repair and failure to...
- 2From: Nature Genetics. (Vol. 44, Issue 5) Peer-ReviewedChronic or unresolved inflammation can lead to tissue damage or, during sepsis, to death. In Nature, Serhan and colleagues characterize a potent anti-inflammatory molecule, resolvin D2, which is naturally produced by...
- 3From: Nature Genetics. (Vol. 44, Issue 5) Peer-ReviewedWalker-Warburg syndrome (WWS) is clinically defined as congenital muscular dystrophy that is accompanied by a variety of brain and eye malformations. It represents the most severe clinical phenotype in a spectrum of...
- 4From: Nature Genetics. (Vol. 44, Issue 5) Peer-ReviewedTorunn Fiskerstrand and colleagues report an activating mutation in GUCY2C as the cause of an autosomal dominant diarrhea syndrome in a large Norwegian family (N. Engl. J. Med., published online 21 March 2012;...
- 5From: Nature Genetics. (Vol. 44, Issue 5) Peer-ReviewedTo the Editor: In 2010, Meindl and colleagues proposed that germline RAD51C mutations confer high risk for breast and ovarian cancer, comparable to BRCA1 and BRCA2 mutations (1,2). However, multiple follow-up studies...
- 6From: Nature Genetics. (Vol. 44, Issue 5) Peer-ReviewedTo identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy...
- 7From: Nature Genetics. (Vol. 44, Issue 5) Peer-ReviewedMacrophages engulf apoptotic cells to prevent immune responses to self antigens. In Nature Medicine, Chawla and colleagues show that PPAR-[delta], a sensor of fatty acids, is essential for efficient macrophage...
- 8From: Nature Genetics. (Vol. 44, Issue 5) Peer-ReviewedRNA profiling can be used to capture the expression patterns of many genes that are associated with expression quantitative trait loci (eQTLs). Employing published putative cis eQTLs, we developed a Bayesian approach to...
- 9From: Nature Genetics. (Vol. 44, Issue 5) Peer-ReviewedIn the version of this article initially published, two references were omitted, resulting in several statements being incorrectly attributed in the Online Methods. In the 'Ped01' subsection of the 'Whole-exome...
- 10From: Nature Genetics. (Vol. 44, Issue 5) Peer-ReviewedTranscription-coupled nucleotide-excision repair (TC-NER) is a subpathway of NER that efficiently removes the highly toxic RNA polymerase II blocking lesions in DNA. Defective TC-NER gives rise to the human disorders...
- 11From: Nature Genetics. (Vol. 44, Issue 5) Peer-ReviewedViral dissemination requires the release of newly synthesized virions from hijacked cells. In Cell, Bieniasz and colleagues report how tetherin, an interferon-inducible protein, blocks the release of HIV and other...
- 12From: Nature Genetics. (Vol. 44, Issue 5) Peer-ReviewedThe genetic architectures of common, complex diseases are largely uncharacterized. We modeled the genetic architecture underlying genome-wide association study (GWAS) data for rheumatoid arthritis and developed a new...
- 13From: Nature Genetics. (Vol. 44, Issue 5) Peer-ReviewedIdentifying genetic variants influencing human brain structures may reveal new biological mechanisms underlying cognition and neuropsychiatric illness. The volume of the hippocampus is a biomarker of incipient...
- 14From: Nature Genetics. (Vol. 44, Issue 5) Peer-ReviewedCTL-mediated target cell killing requires polarization of the micro-tubule-organizing center (MTOC) and cytotoxic granules toward the target cell interface. In Immunity, groups led by Griffiths and Sykulev shed light on...
- 15From: Nature Genetics. (Vol. 44, Issue 5) Peer-ReviewedGil McVean and colleagues report a fine-scale chimpanzee genetic map constructed using a whole-genome population sequencing approach (Science, published online 15 March 2012; doi:10.1126/science.1216872). They sequenced...
- 16From: Nature Genetics. (Vol. 44, Issue 5) Peer-ReviewedUV-sensitive syndrome ([UV.sup.S]S) is a genodermatosis characterized by cutaneous photosensitivity without skin carcinoma (1-4). Despite mild clinical features, cells from individuals with [UV.sup.S]S, like Cockayne...
- 17From: Nature Genetics. (Vol. 44, Issue 5) Peer-ReviewedMultiple genetic variants have been associated with adult obesity and a few with severe obesity in childhood; however, less progress has been made in establishing genetic influences on common early-onset obesity. We...
- 18From: Nature Genetics. (Vol. 44, Issue 5) Peer-ReviewedDuring aging, intracranial volume remains unchanged and represents maximally attained brain size, while various interacting biological phenomena lead to brain volume loss. Consequently, intracranial volume and brain...
- 19From: Nature Genetics. (Vol. 44, Issue 5) Peer-ReviewedBardet-Biedl syndrome is a heterogeneous, multisystem disorder of ciliary function with variable expressivity within families. One model for incomplete penetrance invokes recessive inheritance with a heterozygous...
- 20From: Nature Genetics. (Vol. 44, Issue 5) Peer-Reviewed
Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis
To find new candidate loci predisposing individuals to Kawasaki disease, an acute vasculitis that affects children, we conducted a genome-wide association study in 622 individuals with Kawasaki disease (cases) and 1,107...