A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/ng0393-208.pdf
Reference32 articles.
1. Arikawa, K., Molday, L.L., Molday, R.S. & Williams, D.S. Localization of peripherin/rds in the disk membranes of cone and rod photoreceptors: relationship to disk membrane morphogenesis and retinal degeneration. J. Cell Biol. 116, 659–667 (1992).
2. Connell, G.J. & Molday, R.S. Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disk membrane. Biochem. 29, 4691–4698 (1990).
3. Connell, G., Bascom, R., Molday, L., Reid, D., McInnes, R.R. & Molday, R.S. Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse. Proc. natn Acad. Sci. U.S.A. 88, 723–726 (1991).
4. Travis, G.H., Brennan, M.B., Danielson, P.E., Kozak, C.A. & Sutcliffe, J.G. Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds). Nature 338, 70–73 (1989).
5. Begy, C. & Bridges, C.D. Nucleotide and predicted protein sequence of rat retinal degeneration slow(rds). Nucl. Acids Res. 18, 3058 (1990).
Cited by 190 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. Application of Electrophysiology in Non-Macular Inherited Retinal Dystrophies;Journal of Clinical Medicine;2023-11-06
2. Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant;Klinische Monatsblätter für Augenheilkunde;2023-04
3. Structural view of G protein-coupled receptor signaling in the retinal rod outer segment;Trends in Biochemical Sciences;2023-02
4. Large Benefit from Simple Things: High-Dose Vitamin A Improves RBP4-Related Retinal Dystrophy;International Journal of Molecular Sciences;2022-06-13
5. PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease;Human Mutation;2021-09-20
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3