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10.1038/ng.3933 http://scihub22266oqcxt.onion/10.1038/ng.3933 C5819591!5819591!28805828     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 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 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 265.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Nat+Genet 2017 ; 49 (10): 1529-38 Nephropedia Template TP {{tp|p=28805828|t=2017. Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly |pdf=|usr=}}{{28805828}} gab.com Text Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly JO: Nat Genet http://www.kidney.de/pget.php?&tw=1&pmid=28805828 #FOAvip Galloway-Mowat syndrome (GAMOS) is a severe autosomal-recessive disease characterized by the combination of early-onset steroid-resistant nephrotic syndrome (SRNS) and microcephaly with brain anomalies. To date, mutations of WDR73 are the only known monogenic cause of GAMOS and in most affected individuals the molecular diagnosis remains elusive. We here identify recessive mutations of OSGEP, TP53RK, TPRKB, or LAGE3, encoding the 4 subunits of the KEOPS complex in 33 individuals of 30 families with GAMOS. CRISPR/Cas9 knockout in zebrafish and mice recapitulates the human phenotype of microcephaly and results in early lethality. Knockdown of OSGEP, TP53RK, or TPRKB inhibits cell proliferation, which human mutations fail to rescue, and knockdown of either gene activates DNA damage response signaling and induces apoptosis. OSGEP and TP53RK molecularly interact and co-localize with the actin-regulating ARP2/3 complex. Furthermore, knockdown of OSGEP and TP53RK induces defects of the actin cytoskeleton and reduces migration rate of human podocytes, an established intermediate phenotype of SRNS. We thus identify 4 novel monogenic causes of GAMOS, describe the first link between KEOPS function and human disease, and delineate potential pathogenic mechanisms. Twit Text FOAVip Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly ????Nat Genet http://www.kidney.de/pget.php?&tw=1&pmid=28805828 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28805828 #FOAvip English Wikipedia <ref>{{Cite pmid|28805828}}</ref> Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly #MMPMID28805828 Braun DA; Rao J; Mollet G; Schapiro D; Daugeron MC; Tan W; Gribouval O; Boyer O; Revy P; Jobst-Schwan T; Schmidt JM; Lawson JA; Schanze D; Ashraf S; Boddaert N; Collinet B; Martin G; Liger D; Lovric S; Furlano M; Guerrera IC; Sanchez-Ferras O; Menten B; Vergult S; De Rocker N; Airik M; Hermle T; Shril S; Widmeier E; Gee HY; Choi WI; Sadowski CE; Pabst WL; Warejko J; Daga A; LeBerre TB; Matejas V; Behnam B; Beeson B; Begtrup A; Bruce M; Ch'ng GS; Lin SP; Chang JH; Chen CH; Cho MT; Gipson PE; Hsu CH; Kari JA; Ke YY; Kiraly-Borri C; Lai Wm; Lemyre E; Littlejohn RO; Masri A; Moghtaderi M; Nakamura K; Praet M; Prasad C; Prytula A; Roeder E; Rump P; Schnur RE; Shiihara T; Sinha M; Soliman NA; Soulami K; Sweetser DA; Tsai WH; Tsai JD; Vester U; Viskochil DH; Vatanavicharn N; Waxler JL; Wolf MT; Wong SN; Poduri A; Truglio G; Mane S; Lifton RP; Bouchard M; Kannu P; Chitayat D; Magen D; Calleweart B; van Tilbeurgh H; Zenker M; Antignac C; Hildebrandt F Nat Genet 2017[Oct]; 49 (10): 1529-38 PMID28805828show ga Galloway-Mowat syndrome (GAMOS) is a severe autosomal-recessive disease characterized by the combination of early-onset steroid-resistant nephrotic syndrome (SRNS) and microcephaly with brain anomalies. To date, mutations of WDR73 are the only known monogenic cause of GAMOS and in most affected individuals the molecular diagnosis remains elusive. We here identify recessive mutations of OSGEP, TP53RK, TPRKB, or LAGE3, encoding the 4 subunits of the KEOPS complex in 33 individuals of 30 families with GAMOS. CRISPR/Cas9 knockout in zebrafish and mice recapitulates the human phenotype of microcephaly and results in early lethality. Knockdown of OSGEP, TP53RK, or TPRKB inhibits cell proliferation, which human mutations fail to rescue, and knockdown of either gene activates DNA damage response signaling and induces apoptosis. OSGEP and TP53RK molecularly interact and co-localize with the actin-regulating ARP2/3 complex. Furthermore, knockdown of OSGEP and TP53RK induces defects of the actin cytoskeleton and reduces migration rate of human podocytes, an established intermediate phenotype of SRNS. We thus identify 4 novel monogenic causes of GAMOS, describe the first link between KEOPS function and human disease, and delineate potential pathogenic mechanisms. äMutations in the evolutionarily highly conserved KEOPS complex genes c(epmc).pdf DeepDyve Pubget Overpricing