Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphic Sdccag8 mutations
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DOI: 10.24272/j.issn.2095-8137.2021.387
Abstract: Mutations in serologically defined colon cancer autoantigen protein 8 (SDCCAG8) were first identified in retinal ciliopathy families a decade ago with unknown function. To investigate the pathogenesis of SDCCAG8-associated retinal ciliopathies in vivo, we employed… read more here.
Keywords: knock; mouse; sdccag8; retinal ciliopathy ... See more keywords
Retinal Ciliopathy in the Patient with Transplanted Kidney: Case Report
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DOI: 10.3390/ijms23147582
Abstract: A review of a rare case of a proven mutation in the RP1 gene (RP1c.2029C>T, p. (ARG677*) in a kidney transplant patient was presented herein. According to his medical history, he had tonsillectomy performed at… read more here.
Keywords: kidney; patient; case; retinal ciliopathy ... See more keywords