Article
Dosage effects of cohesin regulatory factor PDS5 on mammalian development: implications for cohesinopathies.
PloS one - 1 Jan 2009
Zhang Bin, Chang Jufang, Fu Ming, Huang Jie, Kashyap Rakesh, Salavaggione Ezequiel, Jain Sanjay, Kulkarni Shashikant, Shashikant Kulkarni, Deardorff Matthew A, Uzielli Maria L Giovannucci, Dorsett Dale, Beebe David C, Jay Patrick Y, Heuckeroth Robert O, Krantz Ian, Milbrandt Jeffrey
Abstract excerpt
Cornelia de Lange syndrome (CdLS), a disorder caused by mutations in cohesion proteins, is characterized by multisystem developmental abnormalities. PDS5, a cohesion protein, is important for proper chromosome segregation in lower organisms and has two homologues in vertebrates (PDS5A and PDS5B). Pds5B mutant mice have developmental abnormalities resembling CdLS; however the role of Pds5A in mammals and the...
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