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10.1146/annurev.genom.9.081307.164211 http://scihub22266oqcxt.onion/10.1146/annurev.genom.9.081307.164211 C4894839!4894839!18767966     free     free     free       Annu+Rev+Genomics+Hum+Genet 2008 ; 9 (ä): 303-20 Nephropedia Template TP {{tp|p=18767966|t=2008. Cohesin and Human Disease |pdf=|usr=}}{{18767966}} gab.com Text Cohesin and Human Disease JO: Annu Rev Genomics Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=18767966 #FOAvip Cornelia de Lange syndrome (CdLS) is a dominant multisystem disorder caused by a disruption of cohesin function. The cohesin ring complex is composed of four protein subunits and more than 25 additional proteins involved in its regulation. The discovery that this complex also has a fundamental role in long-range regulation of transcription in Drosophila has shed light on the mechanism likely responsible for its role in development. In addition to the three cohesin proteins involved in CdLS, a second multisystem, recessively inherited, developmental disorder, Roberts-SC phocomelia, is caused by mutations in another regulator of the cohesin complex, ESCO2. Here we review the phenotypes of these disorders, collectively termed cohesinopathies, as well as the mechanism by which cohesin disruption likely causes these diseases. Twit Text FOAVip Cohesin and Human Disease ????Annu Rev Genomics Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=18767966 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=18767966 #FOAvip English Wikipedia <ref>{{Cite pmid|18767966}}</ref> Cohesin and Human Disease #MMPMID18767966 Liu J; Krantz ID Annu Rev Genomics Hum Genet 2008[]; 9 (ä): 303-20 PMID18767966show ga Cornelia de Lange syndrome (CdLS) is a dominant multisystem disorder caused by a disruption of cohesin function. The cohesin ring complex is composed of four protein subunits and more than 25 additional proteins involved in its regulation. The discovery that this complex also has a fundamental role in long-range regulation of transcription in Drosophila has shed light on the mechanism likely responsible for its role in development. In addition to the three cohesin proteins involved in CdLS, a second multisystem, recessively inherited, developmental disorder, Roberts-SC phocomelia, is caused by mutations in another regulator of the cohesin complex, ESCO2. Here we review the phenotypes of these disorders, collectively termed cohesinopathies, as well as the mechanism by which cohesin disruption likely causes these diseases. äCohesin and Human Disease (epmc).pdf DeepDyve Pubget Overpricing