Distinct roles for prominin-1 and photoreceptor cadherin in outer segment disc morphogenesis in CRISPR-altered X. laevis.
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DOI: 10.1242/jcs.253906
Abstract: Mutations in prominin-1 (prom1) and photoreceptor cadherin (cdhr1) are associated with inherited retinal degenerative disorders but their functions remain unknown. We used CRISPR-Cas9 to generate prom1-, cdhr1-, and prom1+cdhr1-null X. laevis and then documented the… read more here.
Keywords: disc; cdhr1; photoreceptor; outer segment ... See more keywords
Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies
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DOI: 10.3390/genes13050925
Abstract: The retinal dystrophy phenotype associated with CDHR1 retinopathy is clinically heterogenous. In this study, we describe the clinical and molecular findings of a retinal dystrophy cohort (10 patients) attributed to autosomal recessive CDHR1 and report… read more here.
Keywords: cdhr1 associated; dystrophy; phenotypes cdhr1; clinical phenotypes ... See more keywords