Article
Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes.
Proceedings of the National Academy of Sciences of the United States of America - 20 Dec 2011
Zhang Qihong, Nishimura Darryl, Seo Seongjin, Vogel Tim, Morgan Donald A, Searby Charles, Bugge Kevin, Stone Edwin M, Rahmouni Kamal, Sheffield Val C
Abstract excerpt
Bardet-Biedl syndrome (BBS) is a heterogeneous disorder characterized by obesity, retinopathy, polydactyly, and congenital anomalies. The incidence of hypertension and diabetes are also increased in BBS patients. Mutation of 16 genes independently causes BBS, and seven BBS proteins form the BBSome that promotes ciliary membrane elongation. BBS3 (ARL6), an ADP ribosylation factor-like small GTPase, is not part of...
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