Characterization of the cone-rod dystrophy retinal phenotype caused by novel homozygous DRAM2 mutations-Reference-Cited by-同舟云学术

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Characterization of the cone-rod dystrophy retinal phenotype caused by novel homozygous DRAM2 mutations

Published:2019-10 Issue: Volume:187 Page:107752
ISSN:0014-4835
Container-title:Experimental Eye Research
language:en
Short-container-title:Experimental Eye Research

Author:

Abad-Morales Víctor,Burés-Jelstrup Anniken,Navarro Rafael,Ruiz-Nogales Sheila,Méndez-Vendrell Pilar,Corcóstegui Borja,Pomares Esther

Funder

private donation, Spain

Fundació Privada Cellex, Spain

Publisher

Elsevier BV

Subject

Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology

Reference19 articles.

1. MicroRNA-125b promotes tumor growth and suppresses apoptosis by targeting DRAM2 in retinoblastoma;Bai;Eye,2016

2. Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy;Birtel;Sci. Rep.,2018

3. Unravelling the genetics of inherited retinal dystrophies: past, present and future;Broadgate;Prog. Retin. Eye Res.,2017

4. CRB1 mutations in inherited retinal dystrophies;Bujakowska;Hum. Mutat.,2012

5. Progress and prospects of next-generation sequencing testing for inherited retinal dystrophy;Chiang;Expert Rev. Mol. Diagn.,2015

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Retinal cells derived from patients with DRAM2-dependent CORD21 dystrophy exhibit key lysosomal enzyme deficiency and lysosomal content accumulation;Stem Cell Reports;2024-08

2. Integration of human stem cell-derived in vitro systems and mouse preclinical models identifies complex pathophysiologic mechanisms in retinal dystrophy;Frontiers in Cell and Developmental Biology;2023-08-24

3. Lack of Retinal Degeneration in a Dram2 Knockout Mouse Model of Cone-Rod Dystrophy 21;2023

4. The Clinical Spectrum and Disease Course of DRAM2 Retinopathy;International Journal of Molecular Sciences;2022-07-02

5. CERKL, a retinal dystrophy gene, regulates mitochondrial function and dynamics in the mammalian retina;Neurobiology of Disease;2021-08

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