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10.1002/humu.22821 http://scihub22266oqcxt.onion/10.1002/humu.22821 C4537327!4537327!26096313     free     free     free       Hum+Mutat 2015 ; 36 (9): 831-5 Nephropedia Template TP {{tp|p=26096313|t=2015. KIAA0586 is mutated in Joubert syndrome |pdf=|usr=}}{{26096313}} gab.com Text KIAA0586 is mutated in Joubert syndrome JO: Hum Mutat http://www.kidney.de/pget.php?&tw=1&pmid=26096313 #FOAvip Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by a distinctive mid-hindbrain malformation. JS is part of a group of disorders called ciliopathies, based on their overlapping phenotypes and common underlying pathophysiology linked to primary cilium dysfunction. Bi-allelic mutations in one of 28 genes, all encoding proteins localizing to the primary cilium or basal body, can cause JS. Despite this large number of genes, the genetic cause can currently be determined in about 62% of individuals with JS. To identify novel JS genes, we performed whole exome sequencing on 35 individuals with JS and found bi-allelic rare deleterious variants (RDVs) in KIAA0586, encoding a centrosomal protein required for ciliogenesis, in one individual. Targeted next-generation sequencing in a large JS cohort identified bi-allelic RDVs in eight additional families, for an estimated prevalence of 2.5% (9/366 JS families). All affected individuals displayed JS phenotypes toward the mild end of the spectrum. Twit Text FOAVip KIAA0586 is mutated in Joubert syndrome ????Hum Mutat http://www.kidney.de/pget.php?&tw=1&pmid=26096313 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26096313 #FOAvip English Wikipedia <ref>{{Cite pmid|26096313}}</ref> KIAA0586 is mutated in Joubert syndrome #MMPMID26096313 Bachmann-Gagescu R; Phelps IG; Dempsey JC; Sharma VA; Ishak GE; Boyle EA; Wilson M; Lourenço CM; Arslan M; Shendure J; Doherty D Hum Mutat 2015[Sep]; 36 (9): 831-5 PMID26096313show ga Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by a distinctive mid-hindbrain malformation. JS is part of a group of disorders called ciliopathies, based on their overlapping phenotypes and common underlying pathophysiology linked to primary cilium dysfunction. Bi-allelic mutations in one of 28 genes, all encoding proteins localizing to the primary cilium or basal body, can cause JS. Despite this large number of genes, the genetic cause can currently be determined in about 62% of individuals with JS. To identify novel JS genes, we performed whole exome sequencing on 35 individuals with JS and found bi-allelic rare deleterious variants (RDVs) in KIAA0586, encoding a centrosomal protein required for ciliogenesis, in one individual. Targeted next-generation sequencing in a large JS cohort identified bi-allelic RDVs in eight additional families, for an estimated prevalence of 2.5% (9/366 JS families). All affected individuals displayed JS phenotypes toward the mild end of the spectrum. äKIAA0586 is mutated in Joubert syndrome (epmc).pdf DeepDyve Pubget Overpricing