Dominant ARL3-related retinitis pigmentosa-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Dominant ARL3-related retinitis pigmentosa

Published:2019-03-04 Issue:2 Volume:40 Page:124-128
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Holtan Josephine Prener¹²^ORCID,Teigen Knut³,Aukrust Ingvild⁴,Bragadóttir Ragnheiður¹²,Houge Gunnar⁴

Affiliation:

1. Department of Ophthalmology, Oslo University Hospital, Oslo, Norway

2. Institute of Clinical Medicine,University of Oslo, Oslo, Norway

3. Department of Biomedicine, University of Bergen, Bergen, Norway

4. Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway

Funder

Jon S Larsen Foundation

Norges Blindeforbund

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2019.1586965

Reference18 articles.

1. Retinitis pigmentosa

2. Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway

3. Autosomal dominant retinitis pigmentosa: Localization of a disease gene (RP6) to the short arm of chromosome 6

4. Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

5. Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Cited by 17 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. Mechanisms underlying morphological and functional changes of cilia in fibroblasts derived from patients bearing ARL3^T31A and ARL3^T31A/C118F mutations;The FASEB Journal;2024-03-08

2. Disrupting the ciliary gradient of active Arl3 affects rod photoreceptor nuclear migration;eLife;2023-01-04

3. Human Mutations in Arl3, a Small GTPase Involved in Lipidated Cargo Delivery to the Cilia, Cause Retinal Dystrophy;Retinal Degenerative Diseases XIX;2023

4. Non-syndromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome Genes;Retinal Degenerative Diseases XIX;2023

5. The Deubiquitinating Enzyme USP48 Interacts with the Retinal Degeneration-Associated Proteins UNC119a and ARL3;International Journal of Molecular Sciences;2022-10-19

同舟云学术

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