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Sarah Voisin, Markus Sällman Almén, Galina Y Zheleznyakova, Lina Lundberg, Sanaz Zarei, Sandra Castillo, Fia Ence Eriksson, Emil K Nilsson, Matthias Blüher, Yvonne Böttcher, Peter Kovacs, Janis Klovins, Mathias Rask-Andersen, Helgi B Schiöth
BACKGROUND: The mechanisms by which genetic variants, such as single nucleotide polymorphisms (SNPs), identified in genome-wide association studies act to influence body mass remain unknown for most of these SNPs, which continue to puzzle the scientific community. Recent evidence points to the epigenetic and chromatin states of the genome as having important roles. METHODS: We genotyped 355 healthy young individuals for 52 known obesity-associated SNPs and obtained DNA methylation levels in their blood using the Illumina 450 K BeadChip...
2015: Genome Medicine
Tianxiao Huan, Chunyu Liu, Roby Joehanes, Xiaoling Zhang, Brian H Chen, Andrew D Johnson, Chen Yao, Paul Courchesne, Christopher J O'Donnell, Peter J Munson, Daniel Levy
Genome-wide expression quantitative trait locus (eQTL) mapping may reveal common genetic variants regulating gene expression. In addition to mapping eQTLs, we systematically evaluated the heritability of the whole blood transcriptome in 5,626 participants from the Framingham Heart Study. Of all gene expression measurements, about 40 % exhibit evidence of being heritable [hgeneExp(2) > 0, (p < 0.05)], the average heritability was estimated to be 0.13, and 10 % display hgeneExp(2) > 0.2. To identify the role of eQTLs in promoting phenotype differences and disease susceptibility, we investigated the proportion of cis/trans eQTLs in different heritability categories and discovered that genes with higher heritability are more likely to have cis eQTLs that explain large proportions of variance in the expression of the corresponding genes...
March 2015: Human Genetics
Tomoyuki Sasaki, Shanshan Lian, Jie Qi, Peter E Bayliss, Christopher E Carr, Jennifer L Johnson, Sujay Guha, Patrick Kobler, Sergio D Catz, Matthew Gill, Kailiang Jia, Daniel J Klionsky, Shuji Kishi
Spinster (Spin) in Drosophila or Spinster homolog 1 (Spns1) in vertebrates is a putative lysosomal H+-carbohydrate transporter, which functions at a late stage of autophagy. The Spin/Spns1 defect induces aberrant autolysosome formation that leads to embryonic senescence and accelerated aging symptoms, but little is known about the mechanisms leading to the pathogenesis in vivo. Beclin 1 and p53 are two pivotal tumor suppressors that are critically involved in the autophagic process and its regulation. Using zebrafish as a genetic model, we show that Beclin 1 suppression ameliorates Spns1 loss-mediated senescence as well as autophagic impairment, whereas unexpectedly p53 deficit exacerbates both of these characteristics...
June 2014: PLoS Genetics
Åke Västermark, Josefin A Jacobsson, Åsa Johansson, Robert Fredriksson, Ulf Gyllensten, Helgi B Schiöth
No abstract text is available yet for this article.
August 2012: Journal of Genetics
Hanbing An, Jennifer L Morrell, Jennifer L Jennings, Andrew J Link, Kathleen L Gould
Septins are GTP binding proteins important for cytokinesis in many eukaryotes. The Schizosaccaromyces pombe genome sequence predicts orthologues of four of five Saccharomyces cerevisiae septins involved in cytokinesis and these are named Spns1-4p. That spns1-4 are not essential genes permitted the application of a combined genetic and proteomics approach to determine their functional relationships. Our findings indicate that Spns1-4p are present throughout interphase as a diffusely localized approximately 8...
December 2004: Molecular Biology of the Cell
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