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
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
Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.
Zhu D et al.
International Journal of Molecular Sciences, 2023
36902444 (PubMed )
Supplement: ijms-24-05012-s001.zip › ijms-2152855-Supplementary_Table_S2_.xlsx › Sheet1
Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy.
Liu X et al.
Eye and Vision (london, England), 2021
Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation.
Tananuvat N et al.
Journal of Human Genetics, 2021
Corneal dystrophy-causing SLC4A11 mutants: suitability for folding-correction therapy.
Loganathan SK et al.
Human Mutation, 2014
Genetics of the corneal endothelial dystrophies: an evidence-based review.
Aldave AJ et al.
Clinical Genetics, 2013
Mutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literature.
Kodaganur SG et al.
Molecular Vision, 2013
Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutations.
Vilas GL et al.
Human Mutation, 2012
Updates on congenital hereditary endothelial dystrophy.
Mehta N et al.
Taiwan Journal of Ophthalmology, 0
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