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10.1002/humu.23192 http://scihub22266oqcxt.onion/10.1002/humu.23192 C5384969!5384969!28181337     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 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Hum+Mutat 2017 ; 38 (4): 365-72 Nephropedia Template TP {{tp|p=28181337|t=2017. Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications |pdf=|usr=}}{{28181337}} gab.com Text Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications JO: Hum Mutat http://www.kidney.de/pget.php?&tw=1&pmid=28181337 #FOAvip We identified two unrelated consanguineous families with three children affected by the rare association of congenital nephrotic syndrome diagnosed in the first days of life, of hypogonadism, and of prenatally detected adrenal calcifications, associated with congenital adrenal insufficiency in one case. Using exome sequencing and targeted Sanger sequencing two homozygous truncating mutations, c.1513C>T (p.Arg505*) and c.934delC (p.Leu312Phefs*30), were identified in SGPL1 encoding sphingosine-1-phosphate lyase 1. SGPL1 catalyzes the irreversible degradation of endogenous and dietary sphingosine-1-phosphate (S1P), the final step of sphingolipid catabolism, and of other phosphorylated long-chain bases. S1P is an intra- and extracellular signaling molecule involved in angiogenesis, vascular maturation, and immunity. The levels of SGPL1 substrates, S1P and sphingosine were markedly increased in the patients? blood and fibroblasts, as determined by liquid chromatography-tandem mass spectrometry. Vascular alterations were present in a patient?s renal biopsy, in line with changes seen in Sgpl1 knockout mice that are compatible with a developmental defect in vascular maturation. In conclusion, loss of SGPL1 function is associated with congenital nephrotic syndrome, adrenal calcifications, and hypogonadism. Twit Text FOAVip Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications ????Hum Mutat http://www.kidney.de/pget.php?&tw=1&pmid=28181337 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28181337 #FOAvip English Wikipedia <ref>{{Cite pmid|28181337}}</ref> Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications #MMPMID28181337 Janecke AR; Xu R; Steichen-Gersdorf E; Waldegger S; Entenmann A; Giner T; Krainer I; Huber LA; Hess MW; Frishberg Y; Barash H; Tzur S; Schreyer-Shafir N; Sukenik?Halevy R; Zehavi T; Raas-Rothschild A; Mao C; Müller T Hum Mutat 2017[Apr]; 38 (4): 365-72 PMID28181337show ga We identified two unrelated consanguineous families with three children affected by the rare association of congenital nephrotic syndrome diagnosed in the first days of life, of hypogonadism, and of prenatally detected adrenal calcifications, associated with congenital adrenal insufficiency in one case. Using exome sequencing and targeted Sanger sequencing two homozygous truncating mutations, c.1513C>T (p.Arg505*) and c.934delC (p.Leu312Phefs*30), were identified in SGPL1 encoding sphingosine-1-phosphate lyase 1. SGPL1 catalyzes the irreversible degradation of endogenous and dietary sphingosine-1-phosphate (S1P), the final step of sphingolipid catabolism, and of other phosphorylated long-chain bases. S1P is an intra- and extracellular signaling molecule involved in angiogenesis, vascular maturation, and immunity. The levels of SGPL1 substrates, S1P and sphingosine were markedly increased in the patients? blood and fibroblasts, as determined by liquid chromatography-tandem mass spectrometry. Vascular alterations were present in a patient?s renal biopsy, in line with changes seen in Sgpl1 knockout mice that are compatible with a developmental defect in vascular maturation. In conclusion, loss of SGPL1 function is associated with congenital nephrotic syndrome, adrenal calcifications, and hypogonadism. äDeficiency of the sphingosine-1-phosphate lyase SGPL1 is associated wi(epmc).pdf DeepDyve Pubget Overpricing