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

A Splicing Mutation in Slc4a5 Results in Retinal Detachment and Retinal Pigment Epithelium Dysfunction.

International journal of molecular sciences - 17 Feb 2022

Collin Gayle B, Shi Lanying, Yu Minzhong, Akturk Nurten, Charette Jeremy R, Hyde Lillian F, Weatherly Sonia M, Pera Martin F, Naggert Jürgen K, Peachey Neal S, Nishina Patsy M, Krebs Mark P

Abstract excerpt

Fluid and solute transporters of the retinal pigment epithelium (RPE) are core components of the outer blood-retinal barrier. Characterizing these transporters and their role in retinal homeostasis may provide insights into ocular function and disease. Here, we describe RPE defects in tvrm77 mice, which exhibit hypopigmented patches in the central retina. Mapping and nucleotide sequencing of tvrm77 mice revealed...

Read the complete abstract on PubMed

Topics

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

Share to Disease Models, Animal
Share to Mice, Inbred C57BL

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Retina

Share to Retinal Detachment

Share to Retinal Pigment Epithelium

Share to RNA Splicing

Share to Sodium-Bicarbonate Symporters

Share to Tomography, Optical Coherence

Source

Open in PubMed Open full text

Identifiers

PMID: 35216333
DOI: 10.3390/ijms23042220
PMCID: PMC8875008

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

A Splicing Mutation in Slc4a5 Results in Retinal Detachment and Retinal Pigment Epithelium Dysfunction.PMID 35216333Read ↗

The ATP-binding cassette transporter ABCA4: structural and functional properties and role in retinal disease.Semantic proximity Read ↗

Dysregulated Arginine Metabolism Is Linked to Retinal Degeneration in Cep250 Knockout MiceSemantic proximity Read ↗

Clinical course and visual function in a family with mutations in the RPE65 gene.Semantic proximity Read ↗

Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerationsSemantic proximity Read ↗

Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.Semantic proximity Read ↗

Retinal pigment epithelium-specific CLIC4 mutant is a mouse model of dry age-related macular degeneration.Semantic proximity Read ↗

Expression of ABCA4 in the retinal pigment epithelium and its implications for Stargardt macular degenerationSemantic proximity Read ↗

Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration.Semantic proximity Read ↗

Functional Evaluation of Splicing for Variants of Uncertain Significance in Patients with Inherited Retinal Diseases.Semantic proximity Read ↗

Expression of the retina-specific flippase, ABCA4, in epidermal keratinocytesSemantic proximity Read ↗

Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic CupsSemantic proximity Read ↗

Novel mutation in SLC4A7 gene causing autosomal recessive progressive rod-cone dystrophy.Semantic proximity Read ↗

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