Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation

Null mutations in the human IQCB1/NPHP5 (nephrocystin-5) gene that encodes NPHP5 are the most frequent cause of Senior-Løken syndrome, a ciliopathy that is characterized by Leber congenital amaurosis and nephronophthisis. We generated germline Nphp5-knockout mice by placing a β-Geo gene trap in intr...

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Publicat a:FASEB J
Autors principals: Ronquillo, Cecinio C., Hanke-Gogokhia, Christin, Revelo, Monica P., Frederick, Jeanne M., Jiang, Li, Baehr, Wolfgang
Format: Artigo
Idioma:Inglês
Publicat: Federation of American Societies for Experimental Biology 2016
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5789158/
https://ncbi.nlm.nih.gov/pubmed/27328943
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1096/fj.201600511R
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