Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
SLC4A11 Revisited: Isoforms, Expression, Functions, and Unresolved Questions.
Kovaleva PA et al.
Biomolecules, 2025
40563515 (PubMed )
Supplement: biomolecules-15-00875-s001.zip › biomolecules-3667328-supplementary.xlsx › SLC4A11_cases
Antioxidant MitoQ increases viability of human corneal endothelial cells with congenital hereditary endothelial dystrophy-associated SLC4A11 mutations.
Peshkar-Kulkarni S et al.
Ophthalmic Genetics, 2025
Investigation of the functional impact of CHED- and FECD4-associated SLC4A11 mutations in human corneal endothelial cells.
Chung DD et al.
Plos One, 2024
Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy.
Riazuddin SA et al.
Human Mutation, 2010
Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy.
Sultana A et al.
Molecular Vision, 2007
Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: two novel mutations in SLC4A11.
Kumar A et al.
Molecular Vision, 2007
Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11.
Jiao X et al.
Journal of Medical Genetics, 2007
Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).
Vithana EN et al.
Nature Genetics, 2006
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