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- 1From: Nature Genetics. (Vol. 43, Issue 6) Peer-ReviewedIdo Golding and colleagues examine transcriptional time series in Escherichia coli, characterizing mRNA copy number statistics for 20 promoters at single transcript resolution. They find that the degree of burstiness...
- 2From: Nature Genetics. (Vol. 43, Issue 6) Peer-ReviewedMarfan syndrome is caused by mutations in fibrillin-1, an extracellular matrix component that is thought to sequester the TGF[beta] signaling molecule. Loss of TGF[beta] sequestration leads to increased TGF[beta]...
- 3From: Nature Genetics. (Vol. 43, Issue 6) Peer-ReviewedWe estimate and partition genetic variation for height, body mass index (BMI), von Willebrand factor and QT interval (QTi) using 586,898 SNPs genotyped on 11,586 unrelated individuals. We estimate that ~45%, ~17%, ~25%...
- 4From: Nature Genetics. (Vol. 43, Issue 6) Peer-ReviewedKIF7, the human ortholog of Drosophila Costal2, is a key component of the Hedgehog signaling pathway. Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple...
- 5From: Nature Genetics. (Vol. 43, Issue 6) Peer-ReviewedA new study reveals that the HMG-box transcription factor SOX2 coupled with the chromatin remodeling helicase CHD7 cooperatively regulate target genes that are essential during neural stem cell development. Notably,...
- 6From: Nature Genetics. (Vol. 43, Issue 6) Peer-ReviewedA combined genome-wide association and linkage study was used to identify loci causing variation in cystic fibrosis lung disease severity. We identified a significant association (P = 3.34 x [10.sup.-8]) near EHF and...
- 7From: Nature Genetics. (Vol. 43, Issue 6) Peer-ReviewedCommunity review of proposed standards is a good strategy to broaden consensus on ways to conduct principled, ethical and efficient research. We are pleased to welcome new partners for our Nature Precedings Data...
- 8From: Nature Genetics. (Vol. 43, Issue 6) Peer-ReviewedWe report a genome-wide association study for open-angle glaucoma (OAG) blindness using a discovery cohort of 590 individuals with severe visual field loss (cases) and 3,956 controls. We identified associated loci at...
- 9From: Nature Genetics. (Vol. 43, Issue 6) Peer-ReviewedWe present a genome-wide association study of metabolic traits in human urine, designed to investigate the detoxification capacity of the human body. Using NMR spectroscopy, we tested for associations between 59...
- 10From: Nature Genetics. (Vol. 43, Issue 6) Peer-ReviewedGene activity is described by the time series of discrete, stochastic mRNA production events. This transcriptional time series shows intermittent, bursty behavior. One consequence of this temporal intricacy is that gene...
- 11From: Nature Genetics. (Vol. 43, Issue 6) Peer-ReviewedDavid Schwartz and colleagues (N. Engl. J. Med. 364, 1503-1512, 2011) report that a common variant upstream of MUC5B is associated with a higher risk of familial interstitial pneumonia and idiopathic pulmonary fibrosis....
- 12From: Nature Genetics. (Vol. 43, Issue 6) Peer-ReviewedWe conducted a meta-analysis of genome-wide association studies of systolic (SBP) and diastolic (DBP) blood pressure in 19,608 subjects of east Asian ancestry from the AGEN-BP consortium followed up with de novo...
- 13From: Nature Genetics. (Vol. 43, Issue 6) Peer-ReviewedIn search of common risk alleles for prostate cancer that could contribute to high rates of the disease in men of African ancestry, we conducted a genome-wide association study, with 1,047,986 SNP markers examined in...
- 14From: Nature Genetics. (Vol. 43, Issue 6) Peer-ReviewedGenetic and gene expression studies have suggested an important role for KLF14 in metabolic disease. A new study now identifies a network of genes whose expression is associated with KLF14 variation in trans, providing...
- 15From: Nature Genetics. (Vol. 43, Issue 6) Peer-ReviewedThe HMG-box transcription factor Sox2 plays a role throughout neurogenesis (1) and also acts at other stages of development (2), as illustrated by the multiple organs affected in the anophthalmia syndrome caused by SOX2...
- 16From: Nature Genetics. (Vol. 43, Issue 6) Peer-ReviewedGenomic instability is a feature of solid tumors and leukemias, and there are several mechanisms proposed to explain this instability. Batsheva Karem and colleagues report that recently transformed cells show lower...
- 17From: Nature Genetics. (Vol. 43, Issue 6) Peer-ReviewedCilia-associated human genetic disorders are striking in the diversity of their abnormalities and their complex inheritance. Inactivation of the retrograde ciliary motor by mutations in DYNC2H1 causes skeletal...
- 18From: Nature Genetics. (Vol. 43, Issue 6) Peer-ReviewedThe biological basis for regional and inter-species differences in cerebral cortical morphology is poorly understood. We focused on consanguineous Turkish families with a single affected member with complex bilateral...
- 19From: Nature Genetics. (Vol. 43, Issue 6) Peer-ReviewedAngle-closure glaucoma (ACG) is a subset of glaucoma affecting 16 million people (1-3). Although 4 million people are bilaterally blind from ACG (4,5), the causative molecular mechanisms of ACG remain to be defined....
- 20From: Nature Genetics. (Vol. 43, Issue 6) Peer-ReviewedGenome wide association studies (GWAS) have identified more than 200 mostly new common low-penetrance susceptibility loci for cancers. The predicted risk associated with each locus is generally modest (with a per-allele...