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Select item 50708861.

Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3

Petra Liskova, Cerys J Evans, Alice E Davidson, Marketa Zaliova, Lubica Dudakova, Marie Trkova, Viktor Stranecky, Nicole Carnt, Vincent Plagnol, Andrea L Vincent, Stephen J Tuft, Alison J Hardcastle

Eur J Hum Genet. 2016 Jul; 24(7): 985–991. Published online 2015 Oct 28. doi: 10.1038/ejhg.2015.232

PMCID:: PMC5070886

Abstract Article PDF–1.3M

Select item 57221532.

Endothelial keratoplasty for posterior polymorphous corneal dystrophy in a 4-month-old infant

M. Hermina Strungaru, Asim Ali, David Rootman, Kamiar Mireskandari

Am J Ophthalmol Case Rep. 2017 Sep; 7: 23–26. Published online 2017 May 4. doi: 10.1016/j.ajoc.2017.05.001

PMCID:: PMC5722153

Abstract Article PDF–1.1M

Select item 32632503.

Descemet membrane endothelial keratoplasty with a stromal rim in the treatment of posterior polymorphous corneal dystrophy

Pavel Studeny, Katerina Jirsova, Pavel Kuchynka, Petra Liskova

Indian J Ophthalmol. 2012 Jan-Feb; 60(1): 59–60. doi: 10.4103/0301-4738.91350

PMCID:: PMC3263250

Abstract Article PDF–675K

Select item 56288294.

Retinal pathology in the PPCD1 mouse

Anna L. Shen, Susan M. Moran, Edward A. Glover, Leandro B. Teixeira, Christopher A. Bradfield

PLoS One. 2017; 12(10): e0185094. Published online 2017 Oct 5. doi: 10.1371/journal.pone.0185094

PMCID:: PMC5628829

Abstract Article PDF–16M

Select item 54888785.

Transcriptomic Profiling of Posterior Polymorphous Corneal Dystrophy

Doug D. Chung, Ricardo F. Frausto, Benjamin R. Lin, Evelyn M. Hanser, Zack Cohen, Anthony J. Aldave

Invest Ophthalmol Vis Sci. 2017 Jul; 58(7): 3202–3214. doi: 10.1167/iovs.17-21423

PMCID:: PMC5488878

Abstract Article PDF–1.3M

Select item 32923636.

Analysis of the Role of ZEB1 in the Pathogenesis of Posterior Polymorphous Corneal Dystrophy

Vivek S. Yellore, Sylvia A. Rayner, Catherine K. Nguyen, Rajendra K. Gangalum, Zhe Jing, Suraj P. Bhat, Anthony J. Aldave

Invest Ophthalmol Vis Sci. 2012 Jan; 53(1): 273–278. Published online 2012 Jan 25. doi: 10.1167/iovs.11-8038

PMCID:: PMC3292363

Abstract Article PDF–1.0M

Select item 54374817.

Unilateral Posterior Polymorphous Corneal Dystrophy Presented as Anisometropic Astigmatism: 3 Case Reports

Hyun Sun Jeon, Joon Young Hyon

Case Rep Ophthalmol. 2017 Jan-Apr; 8(1): 250–258. Published online 2017 Apr 21. doi: 10.1159/000472704

PMCID:: PMC5437481

Abstract Article PDF–975K

Select item 53935938.

Active transforming growth factor-β2 in the aqueous humor of posterior polymorphous corneal dystrophy patients

Andrea Stadnikova, Lubica Dudakova, Pavlina Skalicka, Zdenek Valenta, Martin Filipec, Katerina Jirsova

PLoS One. 2017; 12(4): e0175509. Published online 2017 Apr 17. doi: 10.1371/journal.pone.0175509

PMCID:: PMC5393593

Abstract Article PDF–1.0M

Select item 52075089.

Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1

Doug D. Chung, Ricardo F. Frausto, Aleck E. Cervantes, Katherine M. Gee, Marina Zakharevich, Evelyn M. Hanser, Edwin M. Stone, Elise Heon, Anthony J. Aldave

PLoS One. 2017; 12(1): e0169215. Published online 2017 Jan 3. doi: 10.1371/journal.pone.0169215

PMCID:: PMC5207508

Abstract Article PDF–1.0M

Select item 982044510.

Posterior Polymorphous Corneal Dystrophy in a Patient with a Novel ZEB1 Gene Mutation

Eva Fernández-Gutiérrez, Pedro Fernández-Pérez, Ana Boto-De-Los-Bueis, Laura García-Fernández, Patricia Rodríguez-Solana, Mario Solís, Elena Vallespín

Int J Mol Sci. 2023 Jan; 24(1): 209. Published online 2022 Dec 22. doi: 10.3390/ijms24010209

PMCID:: PMC9820445

Abstract Article PDF–1.6M

Select item 345808111.

High Prevalence of Posterior Polymorphous Corneal Dystrophy in the Czech Republic; Linkage Disequilibrium Mapping and Dating an Ancestral Mutation

Petra Liskova, Rhian Gwilliam, Martin Filipec, Katerina Jirsova, Stanislava Reinstein Merjava, Panos Deloukas, Tom R. Webb, Shomi S. Bhattacharya, Neil D. Ebenezer, Alex G. Morris, Alison J. Hardcastle

PLoS One. 2012; 7(9): e45495. Published online 2012 Sep 25. doi: 10.1371/journal.pone.0045495

PMCID:: PMC3458081

Abstract Article PDF–454K

Select item 361194012.

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

Pejman Bakhtiari, Ricardo F. Frausto, Ashley N. Roldan, Cynthia Wang, Fei Yu, Anthony J. Aldave

Mol Vis. 2013; 19: 575–580. Published online 2013 Mar 15.

PMCID:: PMC3611940

Abstract Article PDF–2.4M

Select item 492710013.

Identification of Potentially Pathogenic Variants in the Posterior Polymorphous Corneal Dystrophy 1 Locus

Derek J. Le, Duk-Won D. Chung, Ricardo F. Frausto, Michelle J. Kim, Anthony J. Aldave

PLoS One. 2016; 11(6): e0158467. Published online 2016 Jun 29. doi: 10.1371/journal.pone.0158467

PMCID:: PMC4927100

Abstract Article PDF–2.5M

Select item 471668014.

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

Alice E. Davidson, Petra Liskova, Cerys J. Evans, Lubica Dudakova, Lenka Nosková, Nikolas Pontikos, Hana Hartmannová, Kateřina Hodaňová, Viktor Stránecký, Zbyněk Kozmík, Hannah J. Levis, Nwamaka Idigo, Noriaki Sasai, Geoffrey J. Maher, James Bellingham, Neyme Veli, Neil D. Ebenezer, Michael E. Cheetham, Julie T. Daniels, Caroline M.H. Thaung, Katerina Jirsova, Vincent Plagnol, Martin Filipec, Stanislav Kmoch, Stephen J. Tuft, Alison J. Hardcastle

Am J Hum Genet. 2016 Jan 7; 98(1): 75–89. Published online 2015 Dec 31. doi: 10.1016/j.ajhg.2015.11.018

PMCID:: PMC4716680

Abstract Article PDF–2.0M

Select item 388880315.

Classification of Posterior Polymorphous Corneal Dystrophy as a Corneal Ectatic Disorder Following Confirmation of Associated Significant Corneal Steepening

Anthony J. Aldave, Lydia B. Ann, Ricardo F. Frausto, Catherine K. Nguyen, Fei Yu, Irving M. Raber

JAMA Ophthalmol. Author manuscript; available in PMC 2014 Dec 1.

Published in final edited form as: JAMA Ophthalmol. 2013 Dec 1; 131(12): 1583–1590. doi: 10.1001/jamaophthalmol.2013.5036

PMCID:: PMC3888803

Abstract Article PDF–948K

Select item 461648816.

Long-Term Observation of Coexistence of Posterior Polymorphous Corneal Dystrophy, Resultant High Myopia and Nonkeratoconic Developing Corneal Astigmatism: A Case Report of 7-Year Tracking in a Chinese Boy

Jianqin Shen, Du Chixin, Yangshun GU

Medicine (Baltimore) 2015 Jun; 94(23): e921. Published online 2015 Jun 12. doi: 10.1097/MD.0000000000000921

PMCID:: PMC4616488

Abstract Article PDF–638K

Select item 407451617.

Posterior Polymorphous Corneal Dystrophy 3 is Associated with Agenesis and Hypoplasia of the Corpus Callosum

Michelle S. Jang, Ashley N. Roldan, Ricardo F. Frausto, Anthony J. Aldave

Vision Res. Author manuscript; available in PMC 2015 Jul 1.

Published in final edited form as: Vision Res. 2014 Jul; 100: 88–92. Published online 2014 Apr 26. doi: 10.1016/j.visres.2014.04.007

PMCID:: PMC4074516

Abstract Article PDF–529K

Select item 301264918.

The utility of next-generation sequencing in the evaluation of the posterior polymorphous corneal dystrophy 1 locus

Isabella N. Lai, Vivek S. Yellore, Sylvia A. Rayner, Nerissa C. D’Silva, Catherine K. Nguyen, Anthony J. Aldave

Mol Vis. 2010; 16: 2829–2838. Published online 2010 Dec 18.

PMCID:: PMC3012649

Abstract Article PDF–1.3M

Select item 598534019.

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4

Petra Liskova, Lubica Dudakova, Cerys J. Evans, Karla E. Rojas Lopez, Nikolas Pontikos, Dimitra Athanasiou, Hodan Jama, Josef Sach, Pavlina Skalicka, Viktor Stranecky, Stanislav Kmoch, Caroline Thaung, Martin Filipec, Michael E. Cheetham, Alice E. Davidson, Stephen J. Tuft, Alison J. Hardcastle

Am J Hum Genet. 2018 Mar 1; 102(3): 447–459. Published online 2018 Mar 1. doi: 10.1016/j.ajhg.2018.02.002

PMCID:: PMC5985340

Abstract Article PDF–1.9M

Select item 278861820.

Phenotypic characterisation and ZEB1 mutational analysis in posterior polymorphous corneal dystrophy in a New Zealand population

Andrea L. Vincent, Rachael L. Niederer, Amanda Richards, Betina Karolyi, Dipika V. Patel, Charles N.J. McGhee

Mol Vis. 2009; 15: 2544–2553. Published online 2009 Dec 3.

PMCID:: PMC2788618

Abstract Article PDF–3.5M

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