Associated Papers
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
Corneal dystrophy mutations R125H and R804H disable SLC4A11 by altering the extracellular pH dependence of the intracellular pK that governs H+(OH-) transport.
Quade BN et al.
American Journal of Physiology. Cell Physiology, 2022
IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing.
Brejchova K et al.
Investigative Ophthalmology & Visual Science, 2019
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
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