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10.1371/journal.pgen.1006609 http://scihub22266oqcxt.onion/10.1371/journal.pgen.1006609 C5328405!5328405!28187132     free     free     free Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       PLoS+Genet 2017 ; 13 (2): ä Nephropedia Template TP {{tp|p=28187132|t=2017. GWAS for serum galactose-deficient IgA1 implicates critical genes of the O-glycosylation pathway |pdf=|usr=}}{{28187132}} gab.com Text GWAS for serum galactose-deficient IgA1 implicates critical genes of the O-glycosylation pathway JO: PLoS Genet http://www.kidney.de/pget.php?&tw=1&pmid=28187132 #FOAvip Aberrant O-glycosylation of serum immunoglobulin A1 (IgA1) represents a heritable pathogenic defect in IgA nephropathy, the most common form of glomerulonephritis worldwide, but specific genetic factors involved in its determination are not known. We performed a quantitative GWAS for serum levels of galactose-deficient IgA1 (Gd-IgA1) in 2,633 subjects of European and East Asian ancestry and discovered two genome-wide significant loci, in C1GALT1 (rs13226913, P = 3.2 x 10?11) and C1GALT1C1 (rs5910940, P = 2.7 x 10?8). These genes encode molecular partners essential for enzymatic O-glycosylation of IgA1. We demonstrated that these two loci explain approximately 7% of variability in circulating Gd-IgA1 in Europeans, but only 2% in East Asians. Notably, the Gd-IgA1-increasing allele of rs13226913 is common in Europeans, but rare in East Asians. Moreover, rs13226913 represents a strong cis-eQTL for C1GALT1 that encodes the key enzyme responsible for the transfer of galactose to O-linked glycans on IgA1. By in vitro siRNA knock-down studies, we confirmed that mRNA levels of both C1GALT1 and C1GALT1C1 determine the rate of secretion of Gd-IgA1 in IgA1-producing cells. Our findings provide novel insights into the genetic regulation of O-glycosylation and are relevant not only to IgA nephropathy, but also to other complex traits associated with O-glycosylation defects, including inflammatory bowel disease, hematologic disease, and cancer. Twit Text FOAVip GWAS for serum galactose-deficient IgA1 implicates critical genes of the O-glycosylation pathway ????PLoS Genet http://www.kidney.de/pget.php?&tw=1&pmid=28187132 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28187132 #FOAvip English Wikipedia <ref>{{Cite pmid|28187132}}</ref> GWAS for serum galactose-deficient IgA1 implicates critical genes of the O-glycosylation pathway #MMPMID28187132 Kiryluk K; Li Y; Moldoveanu Z; Suzuki H; Reily C; Hou P; Xie J; Mladkova N; Prakash S; Fischman C; Shapiro S; LeDesma RA; Bradbury D; Ionita-Laza I; Eitner F; Rauen T; Maillard N; Berthoux F; Floege J; Chen N; Zhang H; Scolari F; Wyatt RJ; Julian BA; Gharavi AG; Novak J PLoS Genet 2017[Feb]; 13 (2): ä PMID28187132show ga Aberrant O-glycosylation of serum immunoglobulin A1 (IgA1) represents a heritable pathogenic defect in IgA nephropathy, the most common form of glomerulonephritis worldwide, but specific genetic factors involved in its determination are not known. We performed a quantitative GWAS for serum levels of galactose-deficient IgA1 (Gd-IgA1) in 2,633 subjects of European and East Asian ancestry and discovered two genome-wide significant loci, in C1GALT1 (rs13226913, P = 3.2 x 10?11) and C1GALT1C1 (rs5910940, P = 2.7 x 10?8). These genes encode molecular partners essential for enzymatic O-glycosylation of IgA1. We demonstrated that these two loci explain approximately 7% of variability in circulating Gd-IgA1 in Europeans, but only 2% in East Asians. Notably, the Gd-IgA1-increasing allele of rs13226913 is common in Europeans, but rare in East Asians. Moreover, rs13226913 represents a strong cis-eQTL for C1GALT1 that encodes the key enzyme responsible for the transfer of galactose to O-linked glycans on IgA1. By in vitro siRNA knock-down studies, we confirmed that mRNA levels of both C1GALT1 and C1GALT1C1 determine the rate of secretion of Gd-IgA1 in IgA1-producing cells. Our findings provide novel insights into the genetic regulation of O-glycosylation and are relevant not only to IgA nephropathy, but also to other complex traits associated with O-glycosylation defects, including inflammatory bowel disease, hematologic disease, and cancer. äGWAS for serum galactose-deficient IgA1 implicates critical genes of t(epmc).pdf DeepDyve Pubget Overpricing