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Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy

May 16, 2021

Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy

Ana B. Garcia-Delgado , Lourdes Valdes-Sanchez , Maria Jose Morillo-Sanchez , Beatriz Ponte-Zuñiga , Francisco J. Diaz-Corrales , Berta...

EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwi

Nov 27, 2020

EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwi

Considering that EYS is the major causative gene of RP in Japan, researchers conducted stepwise genetic screening of 220 Japanese patients.

Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

Apr 21, 2016

Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

Targeted next-generation sequencing (NGS) has been demonstrated to be an effective strategy for the detection of mutations in RP.

A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews

Feb 11, 2011

A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews

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

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