by Aabida Saferali, Jeong H. Yun, Margaret M. Parker, Phuwanat Sakornsakolpat, Robert P. Chase, Andrew Lamb, Brian D. Hobbs, Marike H. Boezen, Xiangpeng Dai, Kim de Jong, Terri H. Beaty, Wenyi Wei, Xiaobo Zhou, Edwin K. Silverman, Michael H. Cho, Peter J. Castaldi, Craig P. Hersh, COPDGene Investigators , the International COPD Genetics Consortium Investigators While many disease-associated single nucleotide polymorphisms (SNPs) are associated with gene expression (expression quantitative trait...
Wed Jul 03, 2019 22:05
by Carlos Ruiz-Arenas, Alejandro Cáceres, Marcos López-Sánchez, Ignacio Tolosana, Luis Pérez-Jurado, Juan R. González Polymorphic inversions contribute to adaptation and phenotypic variation. However, large multi-centric association studies of inversions remain challenging. We present scoreInvHap, a method to genotype inversions from SNP data for genome-wide association studies (GWASs), overcoming important limitations of current methods and outperforming them in accuracy and applicability....
Wed Jul 03, 2019 22:05
by Katarzyna A. Pirog, Ella P. Dennis, Claire L. Hartley, Robert M. Jackson, Jamie Soul, Jean-Marc Schwartz, John F. Bateman, Raymond P. Boot-Handford, Michael D. Briggs The unfolded protein response (UPR) is a conserved cellular response to the accumulation of proteinaceous material in endoplasmic reticulum (ER), active both in health and disease to alleviate cellular stress and improve protein folding. Multiple epiphyseal dysplasia (EDM5) is a genetic skeletal condition and a classic example...
Mon Jul 01, 2019 23:12
by Osnat Cohen-Zontag, Camila Baez, Lisha Qiu Jin Lim, Tsviya Olender, Dvir Schirman, Dvir Dahary, Yitzhak Pilpel, Jeffrey E. Gerst The localization of mRNAs encoding secreted/membrane proteins (mSMPs) to the endoplasmic reticulum (ER) likely facilitates the co-translational translocation of secreted proteins. However, studies have shown that mSMP recruitment to the ER in eukaryotes can occur in a manner that is independent of the ribosome, translational control, and the signal recognition particle,...
Mon Jul 01, 2019 23:12
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