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

X-linked juvenile retinoschisis: Clinical diagnosis, genetic analysis, and molecular mechanisms

4 Jan 2012

Abstract excerpt

X-linked juvenile retinoschisis (XLRS, MIM 312700) is a common early onset macular degeneration in males characterized by mild to severe loss in visual acuity, splitting of retinal layers, and a reduction in the b-wave of the electroretinogram (ERG). The RS1 gene (MIM 300839) associated with the disease encodes retinoschisin, a 224 amino acid protein containing a discoidin domain as the major structural unit, an...

Read the complete abstract on PubMed

Topics

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

Share to Cellular transport and secretion
Share to Retinal Development and Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Retinal Diseases and Treatments

Source

Identifiers

PMID: 22245536
DOI: 10.1016/j.preteyeres.2011.12.002

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

X-linked juvenile retinoschisis: Clinical diagnosis, genetic analysis, and molecular mechanismsPMID 22245536Read ↗

The genetic spectrum and clinical features of X-linked juvenile retinoschisis in Central China.Semantic proximity Read ↗

X-linked retinoschisis: an update.Semantic proximity Read ↗

Comprehensive analysis of genetic and clinical characteristics of 30 patients with X‐linked juvenile retinoschisis in ChinaSemantic proximity Read ↗

Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cellsSemantic proximity Read ↗

Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium.Semantic proximity Read ↗

Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis.Semantic proximity Read ↗

X linked retinoschisis.Semantic proximity Read ↗

Phenotype Heterogeneity and the Association Between Visual Acuity and Outer Retinal Structure in a Cohort of Chinese X-Linked Juvenile Retinoschisis PatientsSemantic proximity Read ↗

A Retinal Neuronal Developmental Wave of Retinoschisin Expression Begins in Ganglion Cells during Layer FormationSemantic proximity Read ↗

X-Linked Retinoschisis.Semantic proximity Read ↗

Recapitulating X-Linked Juvenile Retinoschisis in Mouse Model by Knock-In Patient-Specific Novel MutationSemantic proximity Read ↗

Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure.Semantic proximity Read ↗

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