BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

156 related articles for article (PubMed ID: 33946386)

  • 1. Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function
    Dudakova L; Stranecky V; Piherova L; Palecek T; Pontikos N; Kmoch S; Skalicka P; Vaneckova M; Davidson AE; Liskova P
    Genes (Basel); 2021 Apr; 12(5):. PubMed ID: 33946386
    [No Abstract]   [Full Text] [Related]  

  • 2. Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.
    Liskova P; Evans CJ; Davidson AE; Zaliova M; Dudakova L; Trkova M; Stranecky V; Carnt N; Plagnol V; Vincent AL; Tuft SJ; Hardcastle AJ
    Eur J Hum Genet; 2016 Jul; 24(7):985-91. PubMed ID: 26508574
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Alterations in GRHL2-OVOL2-ZEB1 axis and aberrant activation of Wnt signaling lead to altered gene transcription in posterior polymorphous corneal dystrophy.
    Chung DD; Zhang W; Jatavallabhula K; Barrington A; Jung J; Aldave AJ
    Exp Eye Res; 2019 Nov; 188():107696. PubMed ID: 31233731
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis.
    Dudakova L; Evans CJ; Pontikos N; Hafford-Tear NJ; Malinka F; Skalicka P; Horinek A; Munier FL; Voide N; Studeny P; Vanikova L; Kubena T; Rojas Lopez KE; Davidson AE; Hardcastle AJ; Tuft SJ; Liskova P
    Exp Eye Res; 2019 May; 182():160-166. PubMed ID: 30851240
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.
    Lechner J; Dash DP; Muszynska D; Hosseini M; Segev F; George S; Frazer DG; Moore JE; Kaye SB; Young T; Simpson DA; Churchill AJ; Héon E; Willoughby CE
    Invest Ophthalmol Vis Sci; 2013 May; 54(5):3215-23. PubMed ID: 23599324
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Posterior Polymorphous Corneal Dystrophy in a Patient with a Novel
    Fernández-Gutiérrez E; Fernández-Pérez P; Boto-De-Los-Bueis A; García-Fernández L; Rodríguez-Solana P; Solís M; Vallespín E
    Int J Mol Sci; 2022 Dec; 24(1):. PubMed ID: 36613650
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1.
    Chung DD; Frausto RF; Cervantes AE; Gee KM; Zakharevich M; Hanser EM; Stone EM; Heon E; Aldave AJ
    PLoS One; 2017; 12(1):e0169215. PubMed ID: 28046031
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Identification of six novel mutations in ZEB1 and description of the associated phenotypes in patients with posterior polymorphous corneal dystrophy 3.
    Evans CJ; Liskova P; Dudakova L; Hrabcikova P; Horinek A; Jirsova K; Filipec M; Hardcastle AJ; Davidson AE; Tuft SJ
    Ann Hum Genet; 2015 Jan; 79(1):1-9. PubMed ID: 25441224
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Analysis of the role of ZEB1 in the pathogenesis of posterior polymorphous corneal dystrophy.
    Yellore VS; Rayner SA; Nguyen CK; Gangalum RK; Jing Z; Bhat SP; Aldave AJ
    Invest Ophthalmol Vis Sci; 2012 Jan; 53(1):273-8. PubMed ID: 22199242
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3.
    Liskova P; Palos M; Hardcastle AJ; Vincent AL
    JAMA Ophthalmol; 2013 Oct; 131(10):1296-303. PubMed ID: 23807282
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 3.
    Dudakova L; Skalicka P; Davidson AE; Liskova P
    Cornea; 2019 Jun; 38(6):758-760. PubMed ID: 30950897
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion.
    Chaudhry A; Chung BH; Stavropoulos DJ; Araya MP; Ali A; Heon E; Chitayat D
    Am J Med Genet A; 2017 Sep; 173(9):2467-2471. PubMed ID: 28742278
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Posterior polymorphous corneal dystrophy 3 is associated with agenesis and hypoplasia of the corpus callosum.
    Jang MS; Roldan AN; Frausto RF; Aldave AJ
    Vision Res; 2014 Jul; 100():88-92. PubMed ID: 24780443
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Exclusion of pathogenic promoter region variants and identification of novel nonsense mutations in the zinc finger E-box binding homeobox 1 gene in posterior polymorphous corneal dystrophy.
    Bakhtiari P; Frausto RF; Roldan AN; Wang C; Yu F; Aldave AJ
    Mol Vis; 2013; 19():575-80. PubMed ID: 23559851
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Loss-of-function variants in
    Heide S; Argilli E; Valence S; Boutaud L; Roux N; Mignot C; Nava C; Keren B; Giraudat K; Faudet A; Gerasimenko A; Garel C; Blondiaux E; Rastetter A; Grevent D; Le C; Mackenzie L; Richards L; Attié-Bitach T; Depienne C; Sherr E; Héron D
    J Med Genet; 2024 Feb; 61(3):244-249. PubMed ID: 37857482
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical phenotype of posterior polymorphous corneal dystrophy in a family with a novel ZEB1 mutation.
    Nguyen DQ; Hosseini M; Billingsley G; Héon E; Churchill AJ
    Acta Ophthalmol; 2010 Sep; 88(6):695-9. PubMed ID: 19432861
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene.
    Liskova P; Filipec M; Merjava S; Jirsova K; Tuft SJ
    Ophthalmic Genet; 2010 Dec; 31(4):230-4. PubMed ID: 21067486
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Transcriptomic Profiling of Posterior Polymorphous Corneal Dystrophy.
    Chung DD; Frausto RF; Lin BR; Hanser EM; Cohen Z; Aldave AJ
    Invest Ophthalmol Vis Sci; 2017 Jun; 58(7):3202-3214. PubMed ID: 28654985
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Functional impact of ZEB1 mutations associated with posterior polymorphous and Fuchs' endothelial corneal dystrophies.
    Chung DW; Frausto RF; Ann LB; Jang MS; Aldave AJ
    Invest Ophthalmol Vis Sci; 2014 Sep; 55(10):6159-66. PubMed ID: 25190660
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.