X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa-Reference-Cited by-同舟云学术

X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa

Published:2020-05 Issue:5 Volume:4 Page:510-520
ISSN:2468-6530
Container-title:Ophthalmology Retina
language:en
Short-container-title:Ophthalmology Retina

Author:

Fahim Abigail T.,Sullivan Lori S.,Bowne Sara J.,Jones Kaylie D.,Wheaton Dianna K.H.,Khan Naheed W.,Heckenlively John R.,Jayasundera K. Thiran,Branham Kari H.,Andrews Chris A.,Othman Mohammad I.,Karoukis Athanasios J.,Birch David G.,Daiger Stephen P.

Funder

National Institutes of Health

University of Michigan

Foundation Fighting Blindness, Columbia, Maryland

Publisher

Elsevier BV

Subject

Ophthalmology

Reference67 articles.

1. Perspective on genes and mutations causing retinitis pigmentosa;Daiger;Arch Ophthalmol,2007

2. The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors;Roepman;Hum Mol Genet,2000

3. RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia;Hong;Invest Ophthalmol Vis Sci,2003

4. RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins;Khanna;J Biol Chem,2005

Cited by 35 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. Deep learning aided measurement of outer retinal layer metrics as biomarkers for inherited retinal degenerations: opportunities and challenges;Current Opinion in Ophthalmology;2024-08-29

2. Impacts of X-linked Retinitis Pigmentosa and Patient Pathways in European Countries: Results from the Cross-sectional EXPLORE XLRP-1 Physician Survey;Advances in Therapy;2024-07-08

3. Severe Phenotypic Presentation of RPGR-associated X-linked Retinitis Pigmentosa in Female Carriers: Two Case Reports;Korean Journal of Ophthalmology;2024-04-05

4. Measuring X inactivation skew for retinal diseases with adaptive nanopore sequencing;2024-03-23

5. Skewed X-chromosome inactivation drives the proportion ofDNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia;Journal of Medical Genetics;2024-02-26