Immunohistochemical studies revealed C8orf37 localization at the base of the primary cilium of human retinal pigment epithelium cells . . .

CLRN1, is a four-transmembrane protein predicted to be associated with ribbon synapses of photoreceptors and cochlear hair cells,

RP mutations have also been identified in a group of housekeeping genes that are involved in pre-mRNA splicing and represent . . .

describe the mutations in the CLRN1 gene in patients from two consanguineous Pakistani families diagnosed with arRP

Fierce Biotech | May 16, 2011, 08:05 am | Boston | PRNewswire-US Newswire Scientists from Schepens Eye Research Institute are the first...

Using homozygosity mapping in Ashkenazi Jewish (AJ) patients with arRP, we identified a shared 1.7 Mb homozygous region on chromosome 1p36.1

Pamela R Pretorius , Mohammed A Aldahmesh , Fowzan S Alkuraya , Val C Sheffield , Diane C Slusarski | Human Molecular Genetics | 2011...

The RP17 form of [RP] is caused by an arginine to tryptophan (R14W) mutation in the signal sequence of carbonic anhydrase IV (CAIV).

Discusses stem cells, dev stages of the eye field, eye field transcriptional factors, and endogenous and exogenous sources of stem cells.

The structure of the eye is highly organized and complex, reflecting high degree of specialization that is required to support its function.

In this study we utilized two model systems, the zebrafish and mouse, to evaluate the function of a specific form of BBS (BBS3).

To determine the effects of USH3 mutations on CLRN1 function, we examined the cellular distribution and stability of both normal and mutant

Mutations in the CLRN1 gene cause Usher syndrome type 3 (USH3), a human disease characterized by progressive blindness and deafness.

Histopathologic observations in BEST1-related diseases that expand our insight in the pathogenesis. Plus perspectives on future therapeutics

Apoptosis induced by the CA4 mutants could be prevented, at least partially, by treating the cells with dorzolamide, a CA inhibitor.

To illuminate pathogenic gene and mutation in a Chinese family with autosomal dominant retinitis pigmentosa

JOHN A. GERMILLER MD, PhD | Pediatric Otolaryngology | 2007 | doi.org/10.1016/B978-0-323-04855-2.50009-5 Usher Syndrome Usher syndrome is...

Novel mutation identified in CA4 that provides further evidence that impaired pH regulation may underlie photoreceptor degeneration in RP17.

Identification of RNA transcripts associated with PRPF31-containing splicing complexes using an immunoprecipitation-coupled microarray . . .

Abstract Retina and retinal pigment epithelium (RPE) belong to the metabolically most active tissues in the human body. Efficient removal...