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congenital corneal endothelial dystrophy相关文献:
[Corneal dystrophies].
Bourges JL.
J Fr Ophtalmol. 2017 Sep;40(7):606-621. doi: 10.1016/j.jfo.2017.02.004. Epub 2017 Jun 15.
PMID:28623041
Diseases of the corneal endothelium.
Jeang LJ, Margo CE, Espana EM.
Exp Eye Res. 2021 Apr;205:108495. doi: 10.1016/j.exer.2021.108495. Epub 2021 Feb 14.
PMID:33596440
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. doi: 10.4103/ijo.IJO_992_22.
PMID:35791103
Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome.
Siddiqui S, Zenteno JC, Rice A, Chacón-Camacho O, Naylor SG, Rivera-de la Parra D, Spokes DM, James N, Toomes C, Inglehearn CF, Ali M.
Cornea. 2014 Mar;33(3):247-51. doi: 10.1097/ICO.0000000000000041.
PMID:24351571
Mice with a targeted disruption of Slc4a11 model the progressive corneal changes of congenital hereditary endothelial dystrophy.
Han SB, Ang HP, Poh R, Chaurasia SS, Peh G, Liu J, Tan DT, Vithana EN, Mehta JS.
Invest Ophthalmol Vis Sci. 2013 Sep 27;54(9):6179-89. doi: 10.1167/iovs.13-12089.
PMID:23942972
Genetics of the corneal endothelial dystrophies: an evidence-based review.
Aldave AJ, Han J, Frausto RF.
Clin Genet. 2013 Aug;84(2):109-19. doi: 10.1111/cge.12191. Epub 2013 Jun 10.
PMID:23662738
Sex differences in congenital hereditary endothelial dystrophy (CHED) and Slc4a11(-/-) mouse model of CHED.
Zhang W, Ramya DS, Araujo E, Venkatakrishnan J, Gupta S, Matsubayashi I, Morselli M, Kaginalkar A, Chaurasia S, Pellegrini M, Tandon R, Ramappa M, Arnold A, Aldave AJ.
Biol Sex Differ. 2026 Mar 28. doi: 10.1186/s13293-026-00879-9. Online ahead of print.
PMID:41896991
Endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (edict) syndrome maps to chromosome 15q22.1-q25.3.
Jun AS, Broman KW, Do DV, Akpek EK, Stark WJ, Gottsch JD.
Am J Ophthalmol. 2002 Aug;134(2):172-6. doi: 10.1016/s0002-9394(02)01401-0.
PMID:12140022
Corneal dystrophy-causing SLC4A11 mutants: suitability for folding-correction therapy.
Loganathan SK, Casey JR.
Hum Mutat. 2014 Sep;35(9):1082-91. doi: 10.1002/humu.22601. Epub 2014 Jun 28.
PMID:24916015
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. doi: 10.1016/j.exer.2018.12.003. Epub 2018 Dec 14.
PMID:30557570
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