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6. SLC4A11 mutations in Fuchs endothelial corneal dystrophy. Vithana EN; Morgan PE; Ramprasad V; Tan DT; Yong VH; Venkataraman D; Venkatraman A; Yam GH; Nagasamy S; Law RW; Rajagopal R; Pang CP; Kumaramanickevel G; Casey JR; Aung T Hum Mol Genet; 2008 Mar; 17(5):656-66. PubMed ID: 18024964 [TBL] [Abstract][Full Text] [Related]
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8. Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy. Tang H; Zhang W; Yan XM; Wang LP; Dong H; Shou T; Lei H; Guo Q Int J Mol Med; 2016 Jun; 37(6):1487-500. PubMed ID: 27121161 [TBL] [Abstract][Full Text] [Related]
9. 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; 36(3):284-6. PubMed ID: 24502824 [TBL] [Abstract][Full Text] [Related]
10. Observation of nine previously reported and 10 non-reported Moazzeni H; Javadi MA; Asgari D; Khani M; Emami M; Moghadam A; Panahi-Bazaz MR; Hosseini Tehrani M; Karimian F; Hosseini B; Nekuie Moghadam T; Hassanpour H; Akbari MT; Elahi E Br J Ophthalmol; 2020 Nov; 104(11):1621-1628. PubMed ID: 31420327 [TBL] [Abstract][Full Text] [Related]
11. 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 [TBL] [Abstract][Full Text] [Related]
12. Association of ZEB1 and TCF4 rs613872 changes with late onset Fuchs endothelial corneal dystrophy in patients from northern India. Gupta R; Kumawat BL; Paliwal P; Tandon R; Sharma N; Sen S; Kashyap S; Nag TC; Vajpayee RB; Sharma A Mol Vis; 2015; 21():1252-60. PubMed ID: 26622166 [TBL] [Abstract][Full Text] [Related]
13. No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy. Aldave AJ; Rayner SA; Salem AK; Yoo GL; Kim BT; Saeedian M; Sonmez B; Yellore VS Invest Ophthalmol Vis Sci; 2006 Sep; 47(9):3787-90. PubMed ID: 16936088 [TBL] [Abstract][Full Text] [Related]
15. Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. Mok JW; Kim HS; Joo CK Eye (Lond); 2009 Apr; 23(4):895-903. PubMed ID: 18464802 [TBL] [Abstract][Full Text] [Related]
16. Loss of ion transporters and increased unfolded protein response in Fuchs' dystrophy. Jalimarada SS; Ogando DG; Bonanno JA Mol Vis; 2014; 20():1668-79. PubMed ID: 25548511 [TBL] [Abstract][Full Text] [Related]
17. Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Biswas S; Munier FL; Yardley J; Hart-Holden N; Perveen R; Cousin P; Sutphin JE; Noble B; Batterbury M; Kielty C; Hackett A; Bonshek R; Ridgway A; McLeod D; Sheffield VC; Stone EM; Schorderet DF; Black GC Hum Mol Genet; 2001 Oct; 10(21):2415-23. PubMed ID: 11689488 [TBL] [Abstract][Full Text] [Related]
18. 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; 59(10):4258-4267. PubMed ID: 30140924 [TBL] [Abstract][Full Text] [Related]
19. R125H, W240S, C386R, and V507I SLC4A11 mutations associated with corneal endothelial dystrophy affect the transporter function but not trafficking in PS120 cells. Li S; Hundal KS; Chen X; Choi M; Ogando DG; Obukhov AG; Bonanno JA Exp Eye Res; 2019 Mar; 180():86-91. PubMed ID: 30557570 [TBL] [Abstract][Full Text] [Related]
20. Update on the genetics of corneal endothelial dystrophies. Kannabiran C; Chaurasia S; Ramappa M; Mootha VV Indian J Ophthalmol; 2022 Jul; 70(7):2239-2248. PubMed ID: 35791103 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]