Identification of novel PROM1 mutations responsible for autosomal recessive maculopathy with rod-cone dystrophy-Reference-Cited by-全球学者库

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Identification of novel PROM1 mutations responsible for autosomal recessive maculopathy with rod-cone dystrophy

Published:2018-12-26 Issue:3 Volume:257 Page:619-628
ISSN:0721-832X
Container-title:Graefe's Archive for Clinical and Experimental Ophthalmology
language:en
Short-container-title:Graefes Arch Clin Exp Ophthalmol

Author:

Liang Jian,She Xiangjun,Chen Jieqiong,Zhai Yuanqi,Liu Yang,Zheng Kairong,Gong Yuanyuan,Zhu Hong,Luo Xueting^ORCID,Sun Xiaodong

Funder

National Science and Technology Major Project for Drug Discovery of the Ministry of Science and Technology of China

National Natural Science Foundation of China

Program for Eastern Young Scholar at Shanghai Institutions of Higher Learning

Shanghai Rising-Star Program

Shanghai Pujiang Program

Frontier Project of Hospital Development Center

Chenxing Project from Shanghai Jiao Tong University

National Key R&D Program of China

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology

Link

http://link.springer.com/article/10.1007/s00417-018-04206-w/fulltext.html

Reference38 articles.

1. Kannabiran C, Mariappan I (2018) Therapeutic avenues for hereditary forms of retinal blindness. J Genet

2. Dias MF, Joo K, Kemp JA et al (2017) Molecular genetics and emerging therapies for retinitis pigmentosa: basic research and clinical perspectives. Prog Retin Eye Res:1–25. https://doi.org/10.1016/j.preteyeres.2017.10.004

3. Abdelkader E, Enani L, Schatz P, Safieh L (2017) Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene. Saudi J Ophthalmol

4. Kawamura Y, Suga A, Fujimaki T et al (2018) LRRTM4-C538Y novel gene mutation is associated with hereditary macular degeneration with novel dysfunction of ON-type bipolar cells. J Hum Genet. https://doi.org/10.1038/s10038-018-0465-4

5. Kim JM, Lee C, Lee GI et al (2017) Identification of the PROM1 mutation p.R373C in a Korean patient with autosomal dominant stargardt-like macular dystrophy. Ann Lab Med 37:536–539. https://doi.org/10.3343/alm.2017.37.6.536

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1. Early Macular Involvement in Non-syndromic Retinitis Pigmentosa;Macular Diseases - An Update [Working Title];2023-12-06

2. Clinical Characteristics and Genetic Variants in Taiwanese Patients With PROM1-Related Inherited Retinal Disorders;Investigative Opthalmology & Visual Science;2023-11-17

3. Cholesterol regulates plasma membrane bending by prominin-family proteins;2023-11-08

4. A novel microdeletion of 517 kb downstream of the PAX6 gene in a Chinese family with congenital aniridia;BMC Ophthalmology;2023-09-26

5. MACULAR ATROPHY AND PHENOTYPIC VARIABILITY IN AUTOSOMAL DOMINANT STARGARDT-LIKE MACULAR DYSTROPHY DUE TO PROM1 MUTATION;Retina;2023-07

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