ArticleAdvances in experimental medicine and biology2016
The Role of X-Chromosome Inactivation in Retinal Development and Disease.
Article in Advances in experimental medicine and biology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
26 citing papers in PubMed, 39 citations in OpenAlex.
- Comparative Analysis of Retinal Structure and Function in Female Carriers of Choroideremia and X-Linked Retinitis Pigmentosa.Translational vision science & technology · 2026Article
- Phenotypic characterization of a female patient with retinitis pigmentosa caused by a homozygous X-linkedAmerican journal of ophthalmology case reports · 2025Article
- Measuring X-Chromosome inactivation skew for X-linked diseases with adaptive nanopore sequencing.Genome research · 2024Article
- History of Finding Genes and Mutations Causing Inherited Retinal Diseases.Cold Spring Harbor perspectives in medicine · 2024Review
- Establishing Clinical Trial Endpoints in Selecting Patients for RPGR Retinal Gene Therapy.Translational vision science & technology · 2024Article
- Identification of a novelFrontiers in pediatrics · 2024Article
- Random Allelic Expression in Inherited Retinal Disease Genes.Current issues in molecular biology · 2023Article
- Skewed X-inactivation is associated with retinal dystrophy in female carriers ofLife science alliance · 2023Article
- Overcoming the Challenges to Clinical Development of X-Linked Retinitis Pigmentosa Therapies: Proceedings of an Expert Panel.Translational vision science & technology · 2023Article
- Article
- Genetic spectrum, retinal phenotype, and peripapillary RNFL thickness in RPGR heterozygotes.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2023Article
- Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa.Diagnostics (Basel, Switzerland) · 2023Article
- Genetic Characteristics and Long-Term Follow-Up of Slovenian Patients with RPGR Retinal Dystrophy.International journal of molecular sciences · 2023Article
- A Natural History Study ofJournal of clinical medicine · 2022Article
- Article
- Choroideremia Carriers: Dark-Adapted Perimetry and Retinal Structures.Investigative ophthalmology & visual science · 2022Article
- Clinical manifestation and current therapeutics in X-juvenile retinoschisis.Journal of the Chinese Medical Association : JCMA · 2022Article
- Phenotype of Coats disease in females.BMJ open ophthalmology · 2022Article
- Long-read technologies identify a hidden inverted duplication in a family with choroideremia.HGG advances · 2021Article
- A novel mutation of the RPGR gene in a Chinese X-linked retinitis pigmentosa family and possible involvement of X-chromosome inactivation.Eye (London, England) · 2021Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
The expression of X-linked genes is equalized between males and females in mammalian species through X-Chromosome inactivation (XCI). Every cell in a female mammalian embryo randomly chooses one X Chromosome for epigenetic silencing at the 8-16 cell stage, resulting in a Gaussian distribution of XCI ratios with a peak at 50:50. At the tail extremes of this distribution, X-linked recessive mutations can manifest in disease in female carriers if the mutant allele is disproportionately active. The role of XCI skewing, if any, in X-linked retinal disease is still unknown, although many have speculated that such skewing accounts for phenotypic variation in female carriers of X-linked retinitis pigmentosa (XlRP). Some investigators have used clinical findings such as tapetal-like reflex, pigmentary changes, and multifocal ERG parameters to approximate XCI patches in the retina. These studies are limited by small cohorts and the relative inaccessibility of retinal tissue for genetic and epigenetic analysis. Although blood has been used as a proxy for other tissues in determining XCI ratios, blood XCI skews with age out of proportion to other tissues and may not accurately reflect retinal XCI ratios. Future investigations in determining retinal XCI ratios and the contribution of XCI to phenotype could potentially impact prognosis for female carriers of X-linked retinal disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.