191 Helen Hobbs, Jonathan Cohen and colleagues identify a nonsynonymous variant in TM6SF2 associated with susceptibility to nonalcoholic fatty acid liver disease. They further show that knockdown of Tm6sf2 in mice results in increased liver triglyceride content and reduced very-low-density lipoprotein (VLDL) secretion, suggesting that impaired TM6SF2 function contributes causally to disease risk.
http://www.nature.com/ng/journal/v46/n4/abs/ng.2901.html
190 David Altshuler and colleagues report genotyping or sequencing of ~150,000 individuals from several population-based cohorts, identifying 12 rare protein-truncating variants in SLC30A8, encoding a pancreatic islet zinc transporter. Carriers of these rare protein-truncating variants in SLC30A8 show reduced risk of type 2 diabetes and reduced glucose levels.
http://www.nature.com/ng/journal/v46/n4/abs/ng.2915.html
189 Total Synthesis of a Functional Designer Eukaryotic Chromosome.
http://www.sciencemag.org/content/344/6179/55.abstract
188 The Transcription Factor Titration Effect Dictates Level of Gene Expression.
http://www.cell.com/abstract/S0092-8674(14)00221-9
187 Genome sequence of the hot pepper provides insights into the evolution of pungency in Capsicum species.
http://www.nature.com/ng/journal/v46/n3/full/ng.2877.html
186 Wiskott-Aldrich syndrome gene therapy is feasible, but γ-retroviral vectors contribute a substantial risk of leukemogenesis.
http://stm.sciencemag.org/content/6/227/227ra33.abstract
185 Mutant Cohesin in Premature Ovarian Failure.
http://www.nejm.org/doi/full/10.1056/NEJMoa1309635
184 DNA Sequencing versus Standard Prenatal Aneuploidy Screening.
http://www.nejm.org/doi/full/10.1056/NEJMoa1311037
183 Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2.
http://www.nejm.org/doi/full/10.1056/NEJMoa1307361
182 Species identification through mitochondrial rRNA genetic analysis.
http://www.nature.com/srep/2014/140213/srep04089/full/srep04089.html
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