BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

222 related articles for article (PubMed ID: 31233731)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.
    Davidson AE; Liskova P; Evans CJ; Dudakova L; Nosková L; Pontikos N; Hartmannová H; Hodaňová K; Stránecký V; Kozmík Z; Levis HJ; Idigo N; Sasai N; Maher GJ; Bellingham J; Veli N; Ebenezer ND; Cheetham ME; Daniels JT; Thaung CM; Jirsova K; Plagnol V; Filipec M; Kmoch S; Tuft SJ; Hardcastle AJ
    Am J Hum Genet; 2016 Jan; 98(1):75-89. PubMed ID: 26749309
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. Ovol2 promoter mutations in mice and human illuminate species-specific phenotypic divergence.
    Sunny SS; Lachova J; Kasparek P; Palkova M; Spoutil F; Prochazka J; Sedlacek R; Liskova P; Kozmik Z
    Hum Mol Genet; 2024 Feb; 33(6):491-500. PubMed ID: 37971355
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Exclusion of positional candidate gene coding region mutations in the common posterior polymorphous corneal dystrophy 1 candidate gene interval.
    Aldave AJ; Yellore VS; Vo RC; Kamal KM; Rayner SA; Plaisier CL; Chen MC; Damani MR; Pham MN; Gorin MB; Sobel E; Papp J
    Cornea; 2009 Aug; 28(7):801-7. PubMed ID: 19574904
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 12.