ReviewBioMed research international2015
SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy.
Review in BioMed research international, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 69 citations in OpenAlex.
- Identification of genetic variants in five chinese families with keratoconus: Pathogenicity analysis and characteristics of parental corneal topography.Frontiers in genetics · 2022Pooled it
- SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families.Molecular biology reports · 2021Trial
- Transport mechanism of the SLC4 proteins-Lessons from recent structural and computational studies.The Journal of biological chemistry · 2026Review
- Article
- Genetic Basis of Non-Syndromic Childhood Glaucoma Associated with Anterior Segment Dysgenesis: A Narrative Review.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Single-cell profiling of trabecular meshwork identifies mitochondrial dysfunction in a glaucoma model that is protected by vitamin B3 treatment.bioRxiv : the preprint server for biology · 2025Article
- From Genes to Disease: ReassessingInternational journal of molecular sciences · 2025Article
- Advancements in Polymer Biomaterials as Scaffolds for Corneal Endothelium Tissue Engineering.Polymers · 2024Review
- Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.Birth defects research · 2024Article
- Congenital hereditary endothelial dystrophy with progressive sensorineural deafness: a case report of Harboyan syndrome.Arquivos brasileiros de oftalmologia · 2024Article
- Secondary childhood glaucoma in neurofibromatosis type 1: an unusual corneal leukoma case report.Frontiers in oncology · 2024Article
- Potential Theranostic Roles of SLC4 Molecules in Human Diseases.International journal of molecular sciences · 2023Review
- Corneal Endothelial-like Cells Derived from Induced Pluripotent Stem Cells for Cell Therapy.International journal of molecular sciences · 2023Review
- Exome Sequencing RevealsGenes · 2023Article
- Cellular Interplay Through Extracellular Vesicle miR-184 Alleviates Corneal Endothelium Degeneration.Ophthalmology science · 2022Article
- Identification and in silico analysis of a spectrum of SLC4A11 variations in Indian familial and sporadic cases of congenital hereditary endothelial dystrophy.Orphanet journal of rare diseases · 2022Article
- Intracellular pH affects mitochondrial homeostasis in cultured human corneal endothelial cells prepared for cell injection therapy.Scientific reports · 2022Article
- Repressed miR-34a Expression Dictates the Cell Fate to Corneal Endothelium Failure.Investigative ophthalmology & visual science · 2022Article
- Rescue of the Congenital Hereditary Endothelial Dystrophy Mouse Model by Adeno-Associated Viruse-MediatedOphthalmology science · 2022Article
- Mutational analysis in sodium-borate cotransporter SLC4A11 in consanguineous families from Punjab, Pakistan.PloS one · 2022Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital hereditary endothelial dystrophy (CHED) is a rare autosomal recessive disorder of the corneal endothelium characterized by nonprogressive bilateral corneal edema and opacification present at birth. Here we review the current knowledge on the role of the SLC4A11 gene, protein, and its mutations in the pathophysiology and clinical presentation of CHED. Individuals with CHED have mutations in SLC4A11 which encodes a transmembrane protein in the SLC4 family of bicarbonate transporters. The expression of SLC4A11 in the corneal endothelium and inner ear patterns the deficits seen in CHED with corneal edema and hearing loss (Harboyan syndrome). slc4a11-null-mouse models recapitulate the CHED disease phenotype, thus establishing a functional role for SLC4A11 in CHED. However, the transport function of SLC4A11 remains unsettled. Some of the roles that have been attributed to SLC4A11 include H(+) and NH4 (+) permeation, electrogenic Na(+)-H(+) exchange, and water transport. Future studies of the consequences of SLC4A11 dysfunction as well as further understanding of corneal endothelial ion transport will help clarify the involvement of SLC4A11 in the pathophysiology of CHED.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.