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

Investigation of the functional impact of CHED- and FECD4-associated SLC4A11 mutations in human corneal endothelial cells.

PloS one - 1 Jan 2024

Chung Doug D, Chen Angela C, Choo Charlene H, Zhang Wenlin, Williams Dominic, Griffis Christopher G, Bonezzi Paul, Jatavallabhula Kavya, Sampath Alapakkam P, Aldave Anthony J

Abstract excerpt

Mutations in the solute linked carrier family 4 member 11 (SLC4A11) gene are associated with congenital hereditary endothelial dystrophy (CHED) and Fuchs corneal endothelial dystrophy type 4 (FECD4), both characterized by corneal endothelial cell (CEnC) dysfunction and/or cell loss leading to corneal edema and visual impairment. In this study, we characterize the impact of CHED-/FECD4-associated SLC4A11 mutations...

Read the complete abstract on PubMed

Topics

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

Share to Anion Transport Proteins
Share to Antiporters

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Disorders

Share to Corneal Dystrophies, Hereditary

Share to Endothelial Cells

Share to Fuchs' Endothelial Dystrophy

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 38252645
DOI: 10.1371/journal.pone.0296928
PMCID: PMC10802951

Genes

SLC4A11

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

Investigation of the functional impact of CHED- and FECD4-associated SLC4A11 mutations in human corneal endothelial cells.PMID 38252645Read ↗

SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy.Semantic proximity Read ↗

Multifunctional ion transport properties of human SLC4A11: comparison of the SLC4A11-B and SLC4A11-C variants.Semantic proximity Read ↗

Energy Shortage in Human and Mouse Models of SLC4A11-Associated Corneal Endothelial Dystrophies.Semantic proximity Read ↗

Molecular phenotype of SLC4A11 missense mutants: Setting the stage for personalized medicine in corneal dystrophies.Semantic proximity Read ↗

SLC4A11 mutations in Fuchs endothelial corneal dystrophySemantic proximity Read ↗

SLC4A11 Revisited: Isoforms, Expression, Functions and Unresolved QuestionsSemantic proximity Read ↗

Energy Shortage in Human and Mouse Models of <i>SLC4A11</i> -Associated Corneal Endothelial DystrophiesSemantic proximity Read ↗

Defective cell adhesion function of solute transporter, SLC4A11, in endothelial corneal dystrophies.Semantic proximity Read ↗

Corneal dystrophy-causing SLC4A11 mutants: suitability for folding-correction therapy.Semantic proximity Read ↗

Human SLC4A11-C functions as a DIDS-stimulatable H⁺(OH⁻) permeation pathway: partial correction of R109H mutant transport.Semantic proximity Read ↗

Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophySemantic proximity Read ↗

Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutations.Semantic proximity Read ↗

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