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10.1172/JCI89626 http://scihub22266oqcxt.onion/10.1172/JCI89626 C5330730!5330730!28165339     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=28165339&cmd=llinks): Failed to open stream: HTTP request failed! 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Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency |pdf=|usr=}}{{28165339}} gab.com Text Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency JO: J Clin Invest http://www.kidney.de/pget.php?&tw=1&pmid=28165339 #FOAvip Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases. A mutation in 1 of over 40 monogenic genes can be detected in approximately 30% of individuals with SRNS whose symptoms manifest before 25 years of age. However, in many patients, the genetic etiology remains unknown. Here, we have performed whole exome sequencing to identify recessive causes of SRNS. In 7 families with SRNS and facultative ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects, we identified 9 different recessive mutations in SGPL1, which encodes sphingosine-1-phosphate (S1P) lyase. All mutations resulted in reduced or absent SGPL1 protein and/or enzyme activity. Overexpression of cDNA representing SGPL1 mutations resulted in subcellular mislocalization of SGPL1. Furthermore, expression of WT human SGPL1 rescued growth of SGPL1-deficient dpl1? yeast strains, whereas expression of disease-associated variants did not. Immunofluorescence revealed SGPL1 expression in mouse podocytes and mesangial cells. Knockdown of Sgpl1 in rat mesangial cells inhibited cell migration, which was partially rescued by VPC23109, an S1P receptor antagonist. In Drosophila, Sply mutants, which lack SGPL1, displayed a phenotype reminiscent of nephrotic syndrome in nephrocytes. WT Sply, but not the disease-associated variants, rescued this phenotype. Together, these results indicate that SGPL1 mutations cause a syndromic form of SRNS. Twit Text FOAVip Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency ????J Clin Invest http://www.kidney.de/pget.php?&tw=1&pmid=28165339 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28165339 #FOAvip English Wikipedia <ref>{{Cite pmid|28165339}}</ref> Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency #MMPMID28165339 Lovric S; Goncalves S; Gee HY; Oskouian B; Srinivas H; Choi WI; Shril S; Ashraf S; Tan W; Rao J; Airik M; Schapiro D; Braun DA; Sadowski CE; Widmeier E; Jobst-Schwan T; Schmidt JM; Girik V; Capitani G; Suh JH; Lachaussée N; Arrondel C; Patat J; Gribouval O; Furlano M; Boyer O; Schmitt A; Vuiblet V; Hashmi S; Wilcken R; Bernier FP; Innes AM; Parboosingh JS; Lamont RE; Midgley JP; Wright N; Majewski J; Zenker M; Schaefer F; Kuss N; Greil J; Giese T; Schwarz K; Catheline V; Schanze D; Franke I; Sznajer Y; Truant AS; Adams B; Désir J; Biemann R; Pei Y; Ars E; Lloberas N; Madrid A; Dharnidharka VR; Connolly AM; Willing MC; Cooper MA; Lifton RP; Simons M; Riezman H; Antignac C; Saba JD; Hildebrandt F J Clin Invest ä[]; 127 (3): 912-28 PMID28165339show ga Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases. A mutation in 1 of over 40 monogenic genes can be detected in approximately 30% of individuals with SRNS whose symptoms manifest before 25 years of age. However, in many patients, the genetic etiology remains unknown. Here, we have performed whole exome sequencing to identify recessive causes of SRNS. In 7 families with SRNS and facultative ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects, we identified 9 different recessive mutations in SGPL1, which encodes sphingosine-1-phosphate (S1P) lyase. All mutations resulted in reduced or absent SGPL1 protein and/or enzyme activity. Overexpression of cDNA representing SGPL1 mutations resulted in subcellular mislocalization of SGPL1. Furthermore, expression of WT human SGPL1 rescued growth of SGPL1-deficient dpl1? yeast strains, whereas expression of disease-associated variants did not. Immunofluorescence revealed SGPL1 expression in mouse podocytes and mesangial cells. Knockdown of Sgpl1 in rat mesangial cells inhibited cell migration, which was partially rescued by VPC23109, an S1P receptor antagonist. In Drosophila, Sply mutants, which lack SGPL1, displayed a phenotype reminiscent of nephrotic syndrome in nephrocytes. WT Sply, but not the disease-associated variants, rescued this phenotype. Together, these results indicate that SGPL1 mutations cause a syndromic form of SRNS. äMutations in sphingosine-1-phosphate lyase cause nephrosis with ichthy(epmc).pdf DeepDyve Pubget Overpricing