85 related articles for article (PubMed ID: 26619383)
1. Congenital Corneal Endothelial Dystrophies Resulting From Novel De Novo Mutations.
Cunnusamy K; Bowman CB; Beebe W; Gong X; Hogan RN; Mootha VV
Cornea; 2016 Feb; 35(2):281-5. PubMed ID: 26619383
[TBL] [Abstract][Full Text] [Related]
2. Pathogenicity and Function Analysis of Two Novel SLC4A11 Variants in Patients With Congenital Hereditary Endothelial Dystrophy.
Zhen T; Li Y; Guo Q; Yao S; You Y; Lei B
Transl Vis Sci Technol; 2023 Oct; 12(10):1. PubMed ID: 37787991
[TBL] [Abstract][Full Text] [Related]
3. Investigation of the functional impact of CHED- and FECD4-associated SLC4A11 mutations in human corneal endothelial cells.
Chung DD; Chen AC; Choo CH; Zhang W; Williams D; Griffis CG; Bonezzi P; Jatavallabhula K; Sampath AP; Aldave AJ
PLoS One; 2024; 19(1):e0296928. PubMed ID: 38252645
[TBL] [Abstract][Full Text] [Related]
4. Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells.
Krafchak CM; Pawar H; Moroi SE; Sugar A; Lichter PR; Mackey DA; Mian S; Nairus T; Elner V; Schteingart MT; Downs CA; Kijek TG; Johnson JM; Trager EH; Rozsa FW; Mandal MN; Epstein MP; Vollrath D; Ayyagari R; Boehnke M; Richards JE
Am J Hum Genet; 2005 Nov; 77(5):694-708. PubMed ID: 16252232
[TBL] [Abstract][Full Text] [Related]
5. Corneal dystrophies.
Klintworth GK
Orphanet J Rare Dis; 2009 Feb; 4():7. PubMed ID: 19236704
[TBL] [Abstract][Full Text] [Related]
6. Mutational analysis in sodium-borate cotransporter SLC4A11 in consanguineous families from Punjab, Pakistan.
Iqbal A; Naz S; Kaul H; Sharif S; Khushbakht A; Naeem MA; Iqtedar M; Kaleem A; Firasat S; Manzoor F
PLoS One; 2022; 17(8):e0273685. PubMed ID: 36037197
[TBL] [Abstract][Full Text] [Related]
7. Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.
Liskova P; Dudakova L; Evans CJ; Rojas Lopez KE; Pontikos N; Athanasiou D; Jama H; Sach J; Skalicka P; Stranecky V; Kmoch S; Thaung C; Filipec M; Cheetham ME; Davidson AE; Tuft SJ; Hardcastle AJ
Am J Hum Genet; 2018 Mar; 102(3):447-459. PubMed ID: 29499165
[TBL] [Abstract][Full Text] [Related]
8. A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy.
Irvine AD; Coleman CM; Moore JE; Swensson O; Morgan SJ; McCarthy JH; Smith FJ; Black GC; McLean WH
Br J Ophthalmol; 2002 Jul; 86(7):729-32. PubMed ID: 12084738
[TBL] [Abstract][Full Text] [Related]
9. Investigating the Molecular Basis of PPCD3: Characterization of ZEB1 Regulation of COL4A3 Expression.
Chung DW; Frausto RF; Chiu S; Lin BR; Aldave AJ
Invest Ophthalmol Vis Sci; 2016 Aug; 57(10):4136-43. PubMed ID: 27537263
[TBL] [Abstract][Full Text] [Related]
10. Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy.
Lin BR; Frausto RF; Vo RC; Chiu SY; Chen JL; Aldave AJ
J Ophthalmol; 2016; 2016():1968493. PubMed ID: 27382485
[TBL] [Abstract][Full Text] [Related]
11. Structural insights into the conformational changes of BTR1/SLC4A11 in complex with PIP
Lu Y; Zuo P; Chen H; Shan H; Wang W; Dai Z; Xu H; Chen Y; Liang L; Ding D; Jin Y; Yin Y
Nat Commun; 2023 Oct; 14(1):6157. PubMed ID: 37788993
[TBL] [Abstract][Full Text] [Related]
12. Histopathologic Changes in Congenital Corneal Stromal Dystrophy: Report of 4 Cases in 2 Families.
Colino Gallardo AM; De la Torre Serrano M; Alarcón García L; Casado Fariñas I; De Pablo Velasco D; Martínez-Useros J; Barderas R; Fernández-Aceñero MJ
Appl Immunohistochem Mol Morphol; 2023 Nov-Dec 01; 31(10):682-689. PubMed ID: 37751235
[TBL] [Abstract][Full Text] [Related]
13. Identification and Management of a Novel PRDM5 Gene Pathologic Variant in a Family With Brittle Cornea Syndrome.
Sklar BA; Pisuchpen P; Bareket M; Milman T; Eagle RC; Minor J; Procopio R; Capasso J; Levin AV; Hammersmith K
Cornea; 2023 Dec; 42(12):1572-1577. PubMed ID: 37713669
[TBL] [Abstract][Full Text] [Related]
14. Corneal Edema in Inducible
Ogando DG; Kim ET; Li S; Bonanno JA
Cells; 2023 Jun; 12(11):. PubMed ID: 37296649
[TBL] [Abstract][Full Text] [Related]
15. Corneal Plana-Like Phenotype With Peripheral Scleralization Associated With a Pathogenic Variant of PITX2 : A Case Report.
Franco E; Scanga HL; Nischal KK
Cornea; 2023 May; 42(5):639-640. PubMed ID: 36727872
[TBL] [Abstract][Full Text] [Related]
16. The H
Bonanno JA; Shyam R; Choi M; Ogando DG
Cells; 2022 Jan; 11(2):. PubMed ID: 35053313
[TBL] [Abstract][Full Text] [Related]
17. Keratitis Fugax Hereditaria Associated With a Novel NLRP3 Mutation in a Non-Finnish Patient.
Jatavallabhula K; Onyia O; Chung DD; Williams D; Wang K; Aldave AJ
Cornea; 2024 Feb; 43(2):253-256. PubMed ID: 37823852
[TBL] [Abstract][Full Text] [Related]
18. A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene.
Morikawa H; Nishina S; Torii K; Hosono K; Yokoi T; Shigeyasu C; Yamada M; Kosuga M; Fukami M; Saitsu H; Azuma N; Hori Y; Hotta Y
Hum Genome Var; 2023 Mar; 10(1):9. PubMed ID: 36964172
[TBL] [Abstract][Full Text] [Related]
19.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]