RPGR: Its role in photoreceptor physiology, human disease, and future therapies
نویسندگان
چکیده
منابع مشابه
RPGR: Its role in photoreceptor physiology, human disease, and future therapies
Mammalian photoreceptors contain specialised connecting cilia that connect the inner (IS) to the outer segments (OS). Dysfunction of the connecting cilia due to mutations in ciliary proteins are a common cause of the inherited retinal dystrophy retinitis pigmentosa (RP). Mutations affecting the Retinitis Pigmentosa GTPase Regulator (RPGR) protein is one such cause, affecting 10-20% of all peopl...
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Ciliopathies encompass a group of genetic disorders characterized by defects in the formation, maintenance, or function of cilia. Retinitis pigmentosa (RP) is frequently one of the clinical features presented in diverse ciliopathies. RP is a heterogeneous group of inherited retinal disorders, characterized by the death of photoreceptors and affecting more than one million individuals worldwide....
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ژورنال
عنوان ژورنال: Experimental Eye Research
سال: 2015
ISSN: 0014-4835
DOI: 10.1016/j.exer.2015.06.007