156 related articles for article (PubMed ID: 33946386)
21. Phenotypic characterisation and ZEB1 mutational analysis in posterior polymorphous corneal dystrophy in a New Zealand population.
Vincent AL; Niederer RL; Richards A; Karolyi B; Patel DV; McGhee CN
Mol Vis; 2009 Dec; 15():2544-53. PubMed ID: 19997581
[TBL] [Abstract][Full Text] [Related]
22. CUGC for posterior polymorphous corneal dystrophy (PPCD).
Davidson AE; Hafford-Tear NJ; Dudakova L; Sadan AN; Pontikos N; Hardcastle AJ; Tuft SJ; Liskova P
Eur J Hum Genet; 2020 Jan; 28(1):126-131. PubMed ID: 31201376
[TBL] [Abstract][Full Text] [Related]
23. Elucidating the molecular basis of PPCD: Effects of decreased ZEB1 expression on corneal endothelial cell function.
Zakharevich M; Kattan JM; Chen JL; Lin BR; Cervantes AE; Chung DD; Frausto RF; Aldave AJ
Mol Vis; 2017; 23():740-752. PubMed ID: 29046608
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Zeb1 mutant mice as a model of posterior corneal dystrophy.
Liu Y; Peng X; Tan J; Darling DS; Kaplan HJ; Dean DC
Invest Ophthalmol Vis Sci; 2008 May; 49(5):1843-9. PubMed ID: 18436818
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Classification of posterior polymorphous corneal dystrophy as a corneal ectatic disorder following confirmation of associated significant corneal steepening.
Aldave AJ; Ann LB; Frausto RF; Nguyen CK; Yu F; Raber IM
JAMA Ophthalmol; 2013 Dec; 131(12):1583-90. PubMed ID: 24113819
[TBL] [Abstract][Full Text] [Related]
28. Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.
Liskova P; Tuft SJ; Gwilliam R; Ebenezer ND; Jirsova K; Prescott Q; Martincova R; Pretorius M; Sinclair N; Boase DL; Jeffrey MJ; Deloukas P; Hardcastle AJ; Filipec M; Bhattacharya SS
Hum Mutat; 2007 Jun; 28(6):638. PubMed ID: 17437275
[TBL] [Abstract][Full Text] [Related]
29. Unilateral posterior polymorphous corneal dystrophy due to a novel
Lee CY; Jang JH; Han G; Chung TY; Lim DH
Ophthalmic Genet; 2022 Oct; 43(5):724-728. PubMed ID: 36043701
[No Abstract] [Full Text] [Related]
30. Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders.
Ropers HH; Wienker T
Eur J Med Genet; 2015 Dec; 58(12):715-8. PubMed ID: 26506440
[TBL] [Abstract][Full Text] [Related]
31. ZEB1 insufficiency causes corneal endothelial cell state transition and altered cellular processing.
Frausto RF; Chung DD; Boere PM; Swamy VS; Duong HNV; Kao L; Azimov R; Zhang W; Carrigan L; Wong D; Morselli M; Zakharevich M; Hanser EM; Kassels AC; Kurtz I; Pellegrini M; Aldave AJ
PLoS One; 2019; 14(6):e0218279. PubMed ID: 31194824
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy.
Vincent AL; Markie DM; De Karolyi B; Wheeldon CE; Patel DV; Grupcheva CN; McGhee CN
Mol Vis; 2009 Aug; 15():1700-8. PubMed ID: 19710953
[TBL] [Abstract][Full Text] [Related]
34. Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.
Li N; Rowley SM; Thompson ER; McInerny S; Devereux L; Amarasinghe KC; Zethoven M; Lupat R; Goode D; Li J; Trainer AH; Gorringe KL; James PA; Campbell IG
Breast Cancer Res; 2018 Jan; 20(1):3. PubMed ID: 29316957
[TBL] [Abstract][Full Text] [Related]
35. Genetics of the corneal endothelial dystrophies: an evidence-based review.
Aldave AJ; Han J; Frausto RF
Clin Genet; 2013 Aug; 84(2):109-19. PubMed ID: 23662738
[TBL] [Abstract][Full Text] [Related]
36. Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1.
Patterson K; Chong JX; Chung DD; Lisch W; Karp CL; Dreisler E; Lockington D; Rohrbach JM; Garczarczyk-Asim D; Müller T; Tuft SJ; Skalicka P; Wilnai Y; Samra NN; Ibrahim A; Mandel H; Davidson AE; Liskova P; Aldave AJ; Bamshad MJ; Janecke AR
Am J Ophthalmol; 2024 Feb; 258():183-195. PubMed ID: 37972748
[TBL] [Abstract][Full Text] [Related]
37. Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24.
Lin BR; Le DJ; Chen Y; Wang Q; Chung DD; Frausto RF; Croasdale C; Yee RW; Hejtmancik FJ; Aldave AJ
PLoS One; 2016; 11(6):e0157418. PubMed ID: 27309958
[TBL] [Abstract][Full Text] [Related]
38. 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; 86(1):45-53. PubMed ID: 20036349
[TBL] [Abstract][Full Text] [Related]
39. Phenotypic non-penetrance in granular corneal dystrophy type II.
Kim JW; Kim HM; Song JS
Graefes Arch Clin Exp Ophthalmol; 2008 Nov; 246(11):1629-31. PubMed ID: 18458933
[TBL] [Abstract][Full Text] [Related]
40. Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach.
Mikó Á; Kaposi A; Schnabel K; Seidl D; Tory K
Hum Mutat; 2021 Nov; 42(11):1473-1487. PubMed ID: 34405919
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]