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Journal Abstract Search

254 related items for PubMed ID: 20848555

  • 1. Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy.
    Riazuddin SA, Vithana EN, Seet LF, Liu Y, Al-Saif A, Koh LW, Heng YM, Aung T, Meadows DN, Eghrari AO, Gottsch JD, Katsanis N.
    Hum Mutat; 2010 Nov; 31(11):1261-8. PubMed ID: 20848555
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  • 3. Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).
    Vithana EN, Morgan P, Sundaresan P, Ebenezer ND, Tan DT, Mohamed MD, Anand S, Khine KO, Venkataraman D, Yong VH, Salto-Tellez M, Venkatraman A, Guo K, Hemadevi B, Srinivasan M, Prajna V, Khine M, Casey JR, Inglehearn CF, Aung T.
    Nat Genet; 2006 Jul; 38(7):755-7. PubMed ID: 16767101
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  • 4. 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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  • 5. Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutations.
    Vilas GL, Loganathan SK, Quon A, Sundaresan P, Vithana EN, Casey J.
    Hum Mutat; 2012 Feb; 33(2):419-28. PubMed ID: 22072594
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  • 8. Molecular phenotype of SLC4A11 missense mutants: Setting the stage for personalized medicine in corneal dystrophies.
    Alka K, Casey JR.
    Hum Mutat; 2018 May; 39(5):676-690. PubMed ID: 29327391
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  • 11. Congenital hereditary endothelial dystrophy - mutation analysis of SLC4A11 and genotype-phenotype correlation in a North Indian patient cohort.
    Paliwal P, Sharma A, Tandon R, Sharma N, Titiyal JS, Sen S, Nag TC, Vajpayee RB.
    Mol Vis; 2010 Dec 31; 16():2955-63. PubMed ID: 21203343
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  • 12. SLC4A11 Three-Dimensional Homology Model Rationalizes Corneal Dystrophy-Causing Mutations.
    Badior KE, Alka K, Casey JR.
    Hum Mutat; 2017 Mar 31; 38(3):279-288. PubMed ID: 27925686
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  • 15. Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.
    Riazuddin SA, Zaghloul NA, Al-Saif A, Davey L, Diplas BH, Meadows DN, Eghrari AO, Minear MA, Li YJ, Klintworth GK, Afshari N, Gregory SG, Gottsch JD, Katsanis N.
    Am J Hum Genet; 2010 Jan 31; 86(1):45-53. PubMed ID: 20036349
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  • 19. Ophthalmic Nonsteroidal Anti-Inflammatory Drugs as a Therapy for Corneal Dystrophies Caused by SLC4A11 Mutation.
    Alka K, Casey JR.
    Invest Ophthalmol Vis Sci; 2018 Aug 01; 59(10):4258-4267. PubMed ID: 30140924
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