Structural modeling, mutation analysis, and in vitro expression of usherin, a major protein in inherited retinal degeneration and hearing loss-Reference-Cited by-同舟云学术

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Structural modeling, mutation analysis, and in vitro expression of usherin, a major protein in inherited retinal degeneration and hearing loss

Published:2020 Issue: Volume:18 Page:1363-1382
ISSN:2001-0370
Container-title:Computational and Structural Biotechnology Journal
language:en
Short-container-title:Computational and Structural Biotechnology Journal

Author:

Yu Dongmei,Zou Junhuang,Chen Qian,Zhu Tian,Sui Ruifang,Yang Jun

Funder

Research to Prevent Blindness

National Center for Advancing Translational Sciences

National Institutes of Health

International Retinal Research Foundation

University of Utah

Knights Templar Eye Foundation

Publisher

Elsevier BV

Subject

Computer Science Applications,Genetics,Biochemistry,Structural Biology,Biophysics,Biotechnology

Reference89 articles.

1. Retinitis pigmentosa;Hartong;Lancet,2006

2. Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots;Baux;Hum Mutat,2014

3. Usher syndrome: genes, proteins, models, molecular mechanisms, and therapies;Yang,2012

4. A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa;Hartel;Hear Res,2016

5. Visual prognosis in USH2A-associated retinitis pigmentosa is worse for patients with usher syndrome type IIa than for those with nonsyndromic retinitis pigmentosa;Pierrache;Ophthalmology,2016

Cited by 8 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. A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy;BMC Ophthalmology;2024-07-23

2. USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids;Human Genetics and Genomics Advances;2023-10

3. Successful large gene augmentation of USH2A with non-viral episomal vectors;Molecular Therapy;2023-09

4. The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1;Nature Communications;2023-02-21

5. Exome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa;Ophthalmic Genetics;2022-10-31

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