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Journal Abstract Search

243 related items for PubMed ID: 22072594

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  • 2. Corneal dystrophy-causing SLC4A11 mutants: suitability for folding-correction therapy.
    Loganathan SK, Casey JR.
    Hum Mutat; 2014 Sep; 35(9):1082-91. PubMed ID: 24916015
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  • 4. Fuchs Endothelial Corneal Dystrophy in a Heterozygous Carrier of Congenital Hereditary Endothelial Dystrophy Type 2 with a Novel Mutation in SLC4A11.
    Kim JH, Ko JM, Tchah H.
    Ophthalmic Genet; 2015 Sep; 36(3):284-6. PubMed ID: 24502824
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  • 6. Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy.
    Soumittra N, Loganathan SK, Madhavan D, Ramprasad VL, Arokiasamy T, Sumathi S, Karthiyayini T, Rachapalli SR, Kumaramanickavel G, Casey JR, Rajagopal R.
    J Hum Genet; 2014 Aug; 59(8):444-53. PubMed ID: 25007886
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  • 7. Coexistence of Congenital Hereditary Endothelial Dystrophy and Fuchs Endothelial Corneal Dystrophy Associated With SLC4A11 Mutations in Affected Families.
    Chaurasia S, Ramappa M, Annapurna M, Kannabiran C.
    Cornea; 2020 Mar; 39(3):354-357. PubMed ID: 31714402
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  • 12. High Throughput Assay Identifies Glafenine as a Corrector for the Folding Defect in Corneal Dystrophy-Causing Mutants of SLC4A11.
    Chiu AM, Mandziuk JJ, Loganathan SK, Alka K, Casey JR.
    Invest Ophthalmol Vis Sci; 2015 Dec; 56(13):7739-53. PubMed ID: 26641551
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  • 13. Homozygous SLC4A11 mutation in a large Irish CHED2 pedigree.
    Hand CK, McGuire M, Parfrey NA, Murphy CC.
    Ophthalmic Genet; 2017 Dec; 38(2):148-151. PubMed ID: 27057589
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  • 14. Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy.
    Desir J, Moya G, Reish O, Van Regemorter N, Deconinck H, David KL, Meire FM, Abramowicz MJ.
    J Med Genet; 2007 May; 44(5):322-6. PubMed ID: 17220209
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  • 15. SLC4A11 Three-Dimensional Homology Model Rationalizes Corneal Dystrophy-Causing Mutations.
    Badior KE, Alka K, Casey JR.
    Hum Mutat; 2017 Mar; 38(3):279-288. PubMed ID: 27925686
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  • 17. Human SLC4A11-C functions as a DIDS-stimulatable H⁺(OH⁻) permeation pathway: partial correction of R109H mutant transport.
    Kao L, Azimov R, Abuladze N, Newman D, Kurtz I.
    Am J Physiol Cell Physiol; 2015 Jan 15; 308(2):C176-88. PubMed ID: 25394471
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  • 18. Mutations in the Corneal Endothelial Dystrophy-Associated Gene SLC4A11 Render the Cells More Vulnerable to Oxidative Insults.
    Roy S, Praneetha DC, Vendra VP.
    Cornea; 2015 Jun 15; 34(6):668-74. PubMed ID: 25811729
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  • 20. Defective cell adhesion function of solute transporter, SLC4A11, in endothelial corneal dystrophies.
    Malhotra D, Jung M, Fecher-Trost C, Lovatt M, Peh GSL, Noskov S, Mehta JS, Zimmermann R, Casey JR.
    Hum Mol Genet; 2020 Jan 01; 29(1):97-116. PubMed ID: 31691803
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