ReviewMolecular vision2013
Mutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literature.
Review in Molecular vision, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
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Who cites it
22 citing papers in PubMed, 34 citations in OpenAlex.
- Complete SLC4A11 Detection in Saudi Congenital Hereditary Endothelial Dystrophy: A Transmembrane Glycine Hotspot and a Recurrent Splice Donor Allele in Consanguineous Patients.International journal of molecular sciences · 2026Article
- Congenital Hereditary Endothelial Dystrophy: A Review of the Molecular Pathogenesis, Genetic Basis, and Emerging Treatments.Clinical ophthalmology (Auckland, N.Z.) · 2026Review
- Review
- Investigation of the functional impact of CHED- and FECD4-associated SLC4A11 mutations in human corneal endothelial cells.PloS one · 2024Article
- Structural insights into the conformational changes of BTR1/SLC4A11 in complex with PIPNature communications · 2023Article
- Pathogenicity and Function Analysis of Two Novel SLC4A11 Variants in Patients With Congenital Hereditary Endothelial Dystrophy.Translational vision science & technology · 2023Article
- Exome Sequencing RevealsGenes · 2023Article
- Update on the genetics of corneal endothelial dystrophies.Indian journal of ophthalmology · 2022Review
- Mutational analysis in sodium-borate cotransporter SLC4A11 in consanguineous families from Punjab, Pakistan.PloS one · 2022Article
- Energy Shortage in Human and Mouse Models of SLC4A11-Associated Corneal Endothelial Dystrophies.Investigative ophthalmology & visual science · 2020Article
- SLC4A11 function: evidence for HAmerican journal of physiology. Cell physiology · 2020Article
- Human Corneal Expression of SLC4A11, a Gene Mutated in Endothelial Corneal Dystrophies.Scientific reports · 2019Article
- IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing.Investigative ophthalmology & visual science · 2019Article
- Conditionally Immortal Slc4a11-/- Mouse Corneal Endothelial Cell Line Recapitulates Disrupted Glutaminolysis Seen in Slc4a11-/- Mouse Model.Investigative ophthalmology & visual science · 2017Article
- Article
- Functional assessment of SLC4A11, an integral membrane protein mutated in corneal dystrophies.American journal of physiology. Cell physiology · 2016Article
- Article
- The cytoplasmic domain is essential for transport function of the integral membrane transport protein SLC4A11.American journal of physiology. Cell physiology · 2016Article
- Article
- SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy.BioMed research international · 2015Review
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeCongenital hereditary endothelial dystrophy 2 (CHED2) is an autosomal recessive disorder caused by mutations in the solute carrier family 4, sodium borate transporter, member 11 (SLC4A11) gene. The purpose of this study was to identify the genetic cause of CHED2 in six Indian families and catalog all known mutations in the SLC4A11 gene.
methodsPeripheral blood samples were collected from individuals of the families with CHED2 and used in genomic DNA isolation. PCR primers were used to amplify the entire coding region including intron-exon junctions of SLC4A11. Amplicons were subsequently sequenced to identify the mutations.
resultsDNA sequence analysis of the six families identified four novel (viz., p.Thr262Ile, p.Gly417Arg, p.Cys611Arg, and p.His724Asp) mutations and one known p.Arg869His homozygous mutation in the SLC4A11 gene. The mutation p.Gly417Arg was identified in two families.
conclusionsThis study increases the mutation spectrum of the SLC4A11 gene. A review of the literature showed that the total number of mutations in the SLC4A11 gene described to date is 78. Most of the mutations are missense, followed by insertions-deletions. The present study will be helpful in genetic diagnosis of the families reported here.
Indexed as
Identifiers
23922488PMC3733908W2148429229What OpenQuestion holds
Registered trials
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.