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10.1016/j.ajhg.2014.11.014 http://scihub22266oqcxt.onion/10.1016/j.ajhg.2014.11.014 C4289689!4289689 !25557779     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=25557779 &cmd=llinks): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 215 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 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\25557779 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Am+J+Hum+Genet 2015 ; 96 (1 ): 153-61 Nephropedia Template TP {{tp|p=25557779 |t=2015. Defects of CRB2 cause steroid-resistant nephrotic syndrome |pdf=|usr=}}{{25557779 }} gab.com Text Defects of CRB2 cause steroid-resistant nephrotic syndrome JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=25557779 #FOAvip Nephrotic syndrome (NS), the association of gross proteinuria, hypoalbuminaemia, edema, and hyperlipidemia, can be clinically divided into steroid-sensitive (SSNS) and steroid-resistant (SRNS) forms. SRNS regularly progresses to end-stage renal failure. By homozygosity mapping and whole exome sequencing, we here identify recessive mutations in Crumbs homolog 2 (CRB2) in four different families affected by SRNS. Previously, we established a requirement for zebrafish crb2b, a conserved regulator of epithelial polarity, in podocyte morphogenesis. By characterization of a loss-of-function mutation in zebrafish crb2b, we now show that zebrafish crb2b is required for podocyte foot process arborization, slit diaphragm formation, and proper nephrin trafficking. Furthermore, by complementation experiments in zebrafish, we demonstrate that CRB2 mutations result in loss of function and therefore constitute causative mutations leading to NS in humans. These results implicate defects in podocyte apico-basal polarity in the pathogenesis of NS. Twit Text FOAVip Defects of CRB2 cause steroid-resistant nephrotic syndrome ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=25557779 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25557779 #FOAvip English Wikipedia <ref>{{Cite pmid|25557779 }}</ref> Defects of CRB2 cause steroid-resistant nephrotic syndrome #MMPMID25557779 Ebarasi L ; Ashraf S ; Bierzynska A ; Gee HY ; McCarthy HJ ; Lovric S ; Sadowski CE ; Pabst W ; Vega-Warner V ; Fang H ; Koziell A ; Simpson MA ; Dursun I ; Serdaroglu E ; Levy S ; Saleem MA ; Hildebrandt F ; Majumdar A Am J Hum Genet 2015[Jan]; 96 (1 ): 153-61 PMID25557779 show ga Nephrotic syndrome (NS), the association of gross proteinuria, hypoalbuminaemia, edema, and hyperlipidemia, can be clinically divided into steroid-sensitive (SSNS) and steroid-resistant (SRNS) forms. SRNS regularly progresses to end-stage renal failure. By homozygosity mapping and whole exome sequencing, we here identify recessive mutations in Crumbs homolog 2 (CRB2) in four different families affected by SRNS. Previously, we established a requirement for zebrafish crb2b, a conserved regulator of epithelial polarity, in podocyte morphogenesis. By characterization of a loss-of-function mutation in zebrafish crb2b, we now show that zebrafish crb2b is required for podocyte foot process arborization, slit diaphragm formation, and proper nephrin trafficking. Furthermore, by complementation experiments in zebrafish, we demonstrate that CRB2 mutations result in loss of function and therefore constitute causative mutations leading to NS in humans. These results implicate defects in podocyte apico-basal polarity in the pathogenesis of NS. |Amino Acid Sequence [MESH] |Animals [MESH] |Carrier Proteins/*genetics/metabolism [MESH] |Child [MESH] |Child, Preschool [MESH] |Chromosome Mapping [MESH] |Exome [MESH] |Genes, Recessive [MESH] |Homozygote [MESH] |Humans [MESH] |Infant [MESH] |Kidney Failure, Chronic/etiology/genetics [MESH] |Membrane Proteins/*genetics/metabolism [MESH] |Molecular Sequence Data [MESH] |Mutation [MESH] |Nephrotic Syndrome/complications/*genetics [MESH] |Podocytes [MESH] |Rats [MESH]Defects of CRB2 cause steroid-resistant nephrotic syndrome (epmc).pdf DeepDyve Pubget Overpricing