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10.1016/j.ajhg.2014.10.011 http://scihub22266oqcxt.onion/10.1016/j.ajhg.2014.10.011 C4259970!4259970 !25466283     free     free     free Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 263.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 263.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 263.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 263.2 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\25466283 .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 2014 ; 95 (6 ): 637-48 Nephropedia Template TP {{tp|p=25466283 |t=2014. Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome |pdf=|usr=}}{{25466283 }} gab.com Text Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=25466283 #FOAvip Galloway-Mowat syndrome is a rare autosomal-recessive condition characterized by nephrotic syndrome associated with microcephaly and neurological impairment. Through a combination of autozygosity mapping and whole-exome sequencing, we identified WDR73 as a gene in which mutations cause Galloway-Mowat syndrome in two unrelated families. WDR73 encodes a WD40-repeat-containing protein of unknown function. Here, we show that WDR73 was present in the brain and kidney and was located diffusely in the cytoplasm during interphase but relocalized to spindle poles and astral microtubules during mitosis. Fibroblasts from one affected child and WDR73-depleted podocytes displayed abnormal nuclear morphology, low cell viability, and alterations of the microtubule network. These data suggest that WDR73 plays a crucial role in the maintenance of cell architecture and cell survival. Altogether, WDR73 mutations cause Galloway-Mowat syndrome in a particular subset of individuals presenting with late-onset nephrotic syndrome, postnatal microcephaly, severe intellectual disability, and homogenous brain MRI features. WDR73 is another example of a gene involved in a disease affecting both the kidney glomerulus and the CNS. Twit Text FOAVip Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=25466283 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25466283 #FOAvip English Wikipedia <ref>{{Cite pmid|25466283 }}</ref> Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome #MMPMID25466283 Colin E ; Huynh Cong E ; Mollet G ; Guichet A ; Gribouval O ; Arrondel C ; Boyer O ; Daniel L ; Gubler MC ; Ekinci Z ; Tsimaratos M ; Chabrol B ; Boddaert N ; Verloes A ; Chevrollier A ; Gueguen N ; Desquiret-Dumas V ; Ferré M ; Procaccio V ; Richard L ; Funalot B ; Moncla A ; Bonneau D ; Antignac C Am J Hum Genet 2014[Dec]; 95 (6 ): 637-48 PMID25466283 show ga Galloway-Mowat syndrome is a rare autosomal-recessive condition characterized by nephrotic syndrome associated with microcephaly and neurological impairment. Through a combination of autozygosity mapping and whole-exome sequencing, we identified WDR73 as a gene in which mutations cause Galloway-Mowat syndrome in two unrelated families. WDR73 encodes a WD40-repeat-containing protein of unknown function. Here, we show that WDR73 was present in the brain and kidney and was located diffusely in the cytoplasm during interphase but relocalized to spindle poles and astral microtubules during mitosis. Fibroblasts from one affected child and WDR73-depleted podocytes displayed abnormal nuclear morphology, low cell viability, and alterations of the microtubule network. These data suggest that WDR73 plays a crucial role in the maintenance of cell architecture and cell survival. Altogether, WDR73 mutations cause Galloway-Mowat syndrome in a particular subset of individuals presenting with late-onset nephrotic syndrome, postnatal microcephaly, severe intellectual disability, and homogenous brain MRI features. WDR73 is another example of a gene involved in a disease affecting both the kidney glomerulus and the CNS. |Adolescent [MESH] |Brain/physiopathology [MESH] |Cell Line [MESH] |Cell Survival [MESH] |Child [MESH] |Child, Preschool [MESH] |Cytosol/metabolism [MESH] |Exome/genetics [MESH] |Hernia, Hiatal/*genetics/physiopathology [MESH] |Homozygote [MESH] |Humans [MESH] |Intellectual Disability/*genetics [MESH] |Kidney Glomerulus/physiopathology [MESH] |Male [MESH] |Microcephaly/*genetics/physiopathology [MESH] |Microtubules/metabolism [MESH] |Mitosis [MESH] |Models, Molecular [MESH] |Mutation [MESH] |Nephrosis/*genetics/physiopathology [MESH] |Nephrotic Syndrome/*genetics/physiopathology [MESH] |Podocytes [MESH] |Protein Transport [MESH] |Proteins/*genetics/metabolism [MESH]Loss-of-function mutations in WDR73 are responsible for microcephaly a(epmc).pdf DeepDyve Pubget Overpricing