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

doi:10.1073/pnas.092528599

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

Community

Back to search

Article

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

Proceedings of the National Academy of Sciences of the United States of America - 30 Apr 2002

Weber Bernhard H F, Schrewe Heinrich, Molday Laurie L, Gehrig Andrea, White Karen L, Seeliger Mathias W, Jaissle Gesine B, Friedburg Christoph, Tamm Ernst, Molday Robert S

Abstract excerpt

Deleterious mutations in RS1 encoding retinoschisin are associated with X-linked juvenile retinoschisis (RS), a common form of macular degeneration in males. The disorder is characterized by a negative electroretinogram pattern and by a splitting of the inner retina. To gain further insight into the function of the retinoschisin protein and its role in the cellular pathology of RS, we have generated knockout mice...

Read the complete abstract on PubMed

Topics

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

Share to Blotting, Northern

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electrophysiology

Share to Electroretinography

Share to Eye Proteins

Share to Microscopy, Electron

Share to Ophthalmoscopy

Share to Retina

Share to Synapses

Source

Open in PubMed Open full text

Identifiers

PMID: 11983912
DOI: 10.1073/pnas.092528599
PMCID: PMC122930

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure.PMID 11983912Read ↗

<i>RS-1</i>Gene Delivery to an Adult<i>Rs1h</i>Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked RetinoschisisSemantic proximity Read ↗

X-linked juvenile retinoschisis: Clinical diagnosis, genetic analysis, and molecular mechanismsSemantic proximity Read ↗

Rs1h-/y exon 3-del rat model of X-linked retinoschisis with early onset and rapid phenotype is rescued by RS1 supplementation.Semantic proximity Read ↗

Genome-Wide Expression Profiling of the Retinoschisin-Deficient Retina in Early Postnatal Mouse DevelopmentSemantic proximity Read ↗

An ENU-induced mutation in Rs1h causes disruption of retinal structure and function.Semantic proximity Read ↗

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

Genetic modification of the schisis phenotype in a mouse model of X-linked retinoschisis.Semantic proximity Read ↗

Reduced synaptic vesicle density and aberrant synaptic localization caused by a splice site mutation in the Rs1h gene.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 ↗

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

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

Photoreceptor deficits appear at eye opening in Rs1 mutant mouse models of X-linked retinoschisis.Semantic proximity Read ↗

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