Development of the zebrafish as a model for Bardet-Biedl syndrome
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Approved: ____________________________________ Thesis Supervisor ____________________________________ Title and Department ____________________________________ Date ____________________________________ Thesis Supervisor ____________________________________ Title and Department ____________________________________ Date 1 DEVELOPMENT OF THE ZEBRAFISH AS A MODEL FOR BARDET-BIEDL SYNDROME
منابع مشابه
A Case of Bardet-Biedl Syndrome
Etemadi K1, Khazaii MR2 1. MSC of Human Genetic, Molecular Medicine and Genetic department, Medical school, Hamadan University of medical sciences. 2. Assistant professor of Pediatric Urology Abstract Background: The Bardet Biedl syndrome is a heterogenous and autosomal recessive disorder. Primary features are: retinitis pigmentosa, obesity, polydactyly, mental retardation, renal abnorm...
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Bardet-Biedl syndrome (BBS) is one of the rare autosomal recessive disorders that affect multiple organs of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. We present a case of BBS with features of hypogonadism and features such as marked central obesity, retinitis pigmentosa, polydactyly, renal abnormalities and mental ...
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Although the zebrafish model provides an important platform for the study of developmental biology, recent work with the zebrafish model has extended its application to a wide variety of experimental studies relevant to human disease. Currently, the zebrafish model is used for the study of human genetic disease, caveolin-associated muscle disease, homeostasis, kidney development and disease, ca...
متن کاملIFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.
Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy with multisystem involvement. So far, 18 BBS genes have been identified and the majority of them are essential for the function of BBSome, a protein complex involved in transporting membrane proteins into and from cilia. Yet defects in the identified genes cannot account for all the BBS cases. The genetic heterogeneity of this dis...
متن کاملKnockdown of Bardet-Biedl Syndrome Gene BBS9/PTHB1 Leads to Cilia Defects
Bardet-Biedl Syndrome (BBS, MIM#209900) is a genetically heterogeneous disorder with pleiotropic phenotypes that include retinopathy, mental retardation, obesity and renal abnormalities. Of the 15 genes identified so far, seven encode core proteins that form a stable complex called BBSome, which is implicated in trafficking of proteins to cilia. Though BBS9 (also known as PTHB1) is reportedly a...
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تاریخ انتشار 2015