Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The Role of X-Chromosome Inactivation in Retinal Development and Disease.

Advances in experimental medicine and biology - 1 Jan 2016

Fahim Abigail T, Daiger Stephen P

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Retinal Diseases
Share to Disease Models, Animal
Share to ERG gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, X-Linked

Share to Genetic Diseases, X-Linked

Share to Genetic Predisposition to Disease

Share to Heterozygote

Share to X Chromosome Inactivation

Source

Open in PubMed Open full text

Identifiers

PMID: 26427428
DOI: 10.1007/978-3-319-17121-0_43
PMCID: PMC4912017

Genes

ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Role of X-Chromosome Inactivation in Retinal Development and Disease.PMID 26427428Read ↗

Female carriers of X-linked inherited retinal diseases - Genetics, diagnosis, and potential therapies.Semantic proximity Read ↗

X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa.Semantic proximity Read ↗

The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.Semantic proximity Read ↗

X-Linked Retinoschisis.Semantic proximity Read ↗

X linked retinoschisis.Semantic proximity Read ↗

Epigenetic regulation of retinal development and diseaseSemantic proximity Read ↗

Cellular resolution maps of X chromosome inactivation: implications for neural development, function, and disease.Semantic proximity Read ↗

An unusual fundus phenotype of inner retinal sheen in X-linked retinoschisis.Semantic proximity Read ↗

Exploring the Variable Phenotypes of RPGR Carrier Females in Assessing Their Potential for Retinal Gene TherapySemantic proximity Read ↗

RPGR: part one of the X-linked retinitis pigmentosa story.Semantic proximity Read ↗

Congenital X-Linked Retinoschisis: An Updated Clinical ReviewSemantic proximity Read ↗

Cross-tissue analysis of allelic X-chromosome inactivation ratios resolves features of human developmentSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.