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10.1681/ASN.2016091043 http://scihub22266oqcxt.onion/10.1681/ASN.2016091043 C5491291!5491291!28209808     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       J+Am+Soc+Nephrol 2017 ; 28 (7): 2158-66 Nephropedia Template TP {{tp|p=28209808|t=2017. Galactosylation of IgA1 Is Associated with Common Variation in C1GALT1 |pdf=|usr=}}{{28209808}} gab.com Text Galactosylation of IgA1 Is Associated with Common Variation in C1GALT1 JO: J Am Soc Nephrol http://www.kidney.de/pget.php?&tw=1&pmid=28209808 #FOAvip IgA nephropathy (IgAN), an important cause of kidney failure, is characterized by glomerular IgA deposition and is associated with changes in O-glycosylation of the IgA1 molecule. Here, we sought to identify genetic factors contributing to levels of galactose-deficient IgA1 (Gd-IgA1) in white and Chinese populations. Gd-IgA1 levels were elevated in IgAN patients compared with ethnically matched healthy subjects and correlated with evidence of disease progression. White patients with IgAN exhibited significantly higher Gd-IgA1 levels than did Chinese patients. Among individuals without IgAN, Gd-IgA1 levels did not correlate with kidney function. Gd-IgA1 level heritability (h2), estimated by comparing midparental and offspring Gd-IgA1 levels, was 0.39. Genome-wide association analysis by linear regression identified alleles at a single locus spanning the C1GALT1 gene that strongly associated with Gd-IgA1 level (?=0.26; P=2.35×10?9). This association was replicated in a genome-wide association study of separate cohorts comprising 308 patients with membranous GN from the UK (P<1.00×10?6) and 622 controls with normal kidney function from the UK (P<1.00×10?10), and in a candidate gene study of 704 Chinese patients with IgAN (P<1.00×10?5). The same extended haplotype associated with elevated Gd-IgA1 levels in all cohorts studied. C1GALT1 encodes a galactosyltransferase enzyme that is important in O-galactosylation of glycoproteins. These findings demonstrate that common variation at C1GALT1 influences Gd-IgA1 level in the population, which independently associates with risk of progressive IgAN, and that the pathogenic importance of changes in IgA1 O-glycosylation may vary between white and Chinese patients with IgAN. Twit Text FOAVip Galactosylation of IgA1 Is Associated with Common Variation in C1GALT1 ????J Am Soc Nephrol http://www.kidney.de/pget.php?&tw=1&pmid=28209808 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28209808 #FOAvip English Wikipedia <ref>{{Cite pmid|28209808}}</ref> Galactosylation of IgA1 Is Associated with Common Variation in C1GALT1 #MMPMID28209808 Gale DP; Molyneux K; Wimbury D; Higgins P; Levine AP; Caplin B; Ferlin A; Yin P; Nelson CP; Stanescu H; Samani NJ; Kleta R; Yu X; Barratt J J Am Soc Nephrol 2017[Jul]; 28 (7): 2158-66 PMID28209808show ga IgA nephropathy (IgAN), an important cause of kidney failure, is characterized by glomerular IgA deposition and is associated with changes in O-glycosylation of the IgA1 molecule. Here, we sought to identify genetic factors contributing to levels of galactose-deficient IgA1 (Gd-IgA1) in white and Chinese populations. Gd-IgA1 levels were elevated in IgAN patients compared with ethnically matched healthy subjects and correlated with evidence of disease progression. White patients with IgAN exhibited significantly higher Gd-IgA1 levels than did Chinese patients. Among individuals without IgAN, Gd-IgA1 levels did not correlate with kidney function. Gd-IgA1 level heritability (h2), estimated by comparing midparental and offspring Gd-IgA1 levels, was 0.39. Genome-wide association analysis by linear regression identified alleles at a single locus spanning the C1GALT1 gene that strongly associated with Gd-IgA1 level (?=0.26; P=2.35×10?9). This association was replicated in a genome-wide association study of separate cohorts comprising 308 patients with membranous GN from the UK (P<1.00×10?6) and 622 controls with normal kidney function from the UK (P<1.00×10?10), and in a candidate gene study of 704 Chinese patients with IgAN (P<1.00×10?5). The same extended haplotype associated with elevated Gd-IgA1 levels in all cohorts studied. C1GALT1 encodes a galactosyltransferase enzyme that is important in O-galactosylation of glycoproteins. These findings demonstrate that common variation at C1GALT1 influences Gd-IgA1 level in the population, which independently associates with risk of progressive IgAN, and that the pathogenic importance of changes in IgA1 O-glycosylation may vary between white and Chinese patients with IgAN. äGalactosylation of IgA1 Is Associated with Common Variation in C1GALT1(epmc).pdf DeepDyve Pubget Overpricing