PMC Articles for MedGen (Select 377757) - PMC

Select item 38853391.

Genetics of the Corneal Endothelial Dystrophies: An Evidence-Based Review

Anthony J. Aldave, Jonathan Han, Ricardo F. Frausto

Clin Genet. Author manuscript; available in PMC 2014 Aug 1.

Published in final edited form as: Clin Genet. 2013 Aug; 84(2): 10.1111/cge.12191. Published online 2013 Jun 10. doi: 10.1111/cge.12191

PMCID:: PMC3885339

Abstract Article PDF–739K

Select item 94261122.

Update on the genetics of corneal endothelial dystrophies

Chitra Kannabiran, Sunita Chaurasia, Muralidhar Ramappa, Venkateswara Vinod Mootha

Indian J Ophthalmol. 2022 Jul; 70(7): 2239–2248. Published online 2022 Jun 30. doi: 10.4103/ijo.IJO_992_22

PMCID:: PMC9426112

Abstract Article PDF–1.0M

Select item 81468203.

Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles

Lubica Dudakova, Viktor Stranecky, Lenka Piherova, Tomas Palecek, Nikolas Pontikos, Stanislav Kmoch, Pavlina Skalicka, Manuela Vaneckova, Alice E. Davidson, Petra Liskova

Genes (Basel) 2021 May; 12(5): 677. Published online 2021 Apr 30. doi: 10.3390/genes12050677

PMCID:: PMC8146820

Abstract Article PDF–1.4M

Select item 69065114.

CUGC for posterior polymorphous corneal dystrophy (PPCD)

Alice E. Davidson, Nathaniel J. Hafford-Tear, Lubica Dudakova, Amanda N. Sadan, Nikolas Pontikos, Alison J. Hardcastle, Stephen J. Tuft, Petra Liskova

Eur J Hum Genet. 2020 Jan; 28(1): 126–131. Published online 2019 Jun 14. doi: 10.1038/s41431-019-0448-8

PMCID:: PMC6906511

Abstract Article PDF–438K

Select item 59853405.

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 49271006.

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 47166807.

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 47067918.

Congenital Corneal Endothelial Dystrophies Resulting from Novel De Novo Mutations

Khrishen Cunnusamy, Charles B. Bowman, Walter Beebe, Xin Gong, R. Nick Hogan, V. Vinod Mootha

Cornea. Author manuscript; available in PMC 2017 Feb 1.

Published in final edited form as: Cornea. 2016 Feb; 35(2): 281–285. doi: 10.1097/ICO.0000000000000670

PMCID:: PMC4706791

Abstract Article PDF–1.0M

Select item 40745169.

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 388880310.

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 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 294545712.

UNUSUAL PRESENTATION OF PRESUMED POSTERIOR POLYMORPHOUS DYSTROPHY ASSOCIATED WITH IRIS HETEROCHROMIA, BAND KERATOPATHY, AND KERATOCONUS

Helene Lam, Janey L. Wiggs, Ula V. Jurkunas

Cornea. Author manuscript; available in PMC 2011 Oct 1.

Published in final edited form as: Cornea. 2010 Oct; 29(10): 1180–1185. doi: 10.1097/ICO.0b013e3181d007e1

PMCID:: PMC2945457

Abstract Article PDF–1.3M

Select item 278861813.

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

Select item 271487514.

Exclusion of Positional Candidate Gene Coding Region Mutations in the Common Posterior Polymorphous Corneal Dystrophy 1 Candidate Gene Interval

Anthony J. Aldave, Vivek S. Yellore, Rosalind C. Vo, Khairidzan M. Kamal, Sylvia A. Rayner, Christopher L Plaisier, Michael C. Chen, Mausam R. Damani, Michele N. Pham, Michael B. Gorin, Eric Sobel, Jeanette Papp

Cornea. Author manuscript; available in PMC 2010 Aug 1.

Published in final edited form as: Cornea. 2009 Aug; 28(7): 801–807. doi: 10.1097/ICO.0b013e31819672fb

PMCID:: PMC2714875

Abstract Article PDF–445K

Select item 269679615.

Novel Mutations in the ZEB1 Gene Identified in Czech and British Patients With Posterior Polymorphous Corneal Dystrophy

Petra Liskova, Stephen J. Tuft, Rhian Gwilliam, Neil D. Ebenezer, Katerina Jirsova, Quincy Prescott, Radka Martincova, Marike Pretorius, Neil Sinclair, David L. Boase, Margaret J. Jeffrey, Panos Deloukas, Alison J. Hardcastle, Martin Filipec, Shomi S. Bhattacharya

Hum Mutat. Author manuscript; available in PMC 2009 Jun 16.

Published in final edited form as: Hum Mutat. 2007 Jun; 28(6): 638. doi: 10.1002/humu.9495

PMCID:: PMC2696796

Abstract Article PDF–464K

Select item 127138216.

Mutations in TCF8 Cause Posterior Polymorphous Corneal Dystrophy and Ectopic Expression of COL4A3 by Corneal Endothelial Cells

Charles M. Krafchak, Hemant Pawar, Sayoko E. Moroi, Alan Sugar, Paul R. Lichter, David A. Mackey, Shahzad Mian, Theresa Nairus, Victor Elner, Miriam T. Schteingart, Catherine A. Downs, Theresa Guckian Kijek, Jenae M. Johnson, Edward H. Trager, Frank W. Rozsa, Md Nawajes Ali Mandal, Michael P. Epstein, Douglas Vollrath, Radha Ayyagari, Michael Boehnke, Julia E. Richards

Am J Hum Genet. 2005 Nov; 77(5): 694–708. Published online 2005 Sep 14. doi: 10.1086/497348

PMCID:: PMC1271382

Abstract Article PDF–2.3M

Select item 124949417.

A Locus for Posterior Polymorphous Corneal Dystrophy (PPCD3) Maps to Chromosome 10

Satoko Shimizu, Charles Krafchak, Nobuo Fuse, Michael P. Epstein, Miriam T. Schteingart, Alan Sugar, Maya Eibschitz-Tsimhoni, Catherine A. Downs, Frank Rozsa, Edward H. Trager, David M. Reed, Michael Boehnke, Sayoko E. Moroi, Julia E. Richards

Am J Med Genet A. Author manuscript; available in PMC 2005 Oct 7.

Published in final edited form as: Am J Med Genet A. 2004 Nov 1; 130(4): 372–377. doi: 10.1002/ajmg.a.30267

PMCID:: PMC1249494

Abstract Article PDF–455K

Select item 104313418.

Posterior polymorphous keratopathy.

G. M. Liakos, T. A. Casey

Br J Ophthalmol. 1978 Jan; 62(1): 39–45. doi: 10.1136/bjo.62.1.39

PMCID:: PMC1043134

Summary Page Browse PDF–2.4M

Select item 491098619.

Association of a Chromosomal Rearrangement Event with Mouse Posterior Polymorphous Corneal Dystrophy and Alterations in Csrp2bp, Dzank1, and Ovol2 Gene Expression

Anna L. Shen, Susan A. Moran, Edward A. Glover, Norman R. Drinkwater, Rebecca E. Swearingen, Leandro B. Teixeira, Christopher A. Bradfield

PLoS One. 2016; 11(6): e0157577. Published online 2016 Jun 16. doi: 10.1371/journal.pone.0157577

PMCID:: PMC4910986

Abstract Article PDF–4.0M

Select item 292237720.

The PPCD1 Mouse: Characterization of a Mouse Model for Posterior Polymorphous Corneal Dystrophy and Identification of a Candidate Gene

Anna L. Shen, Kathleen A. O'Leary, Richard R. Dubielzig, Norman Drinkwater, Christopher J. Murphy, Charles B. Kasper, Christopher A. Bradfield

PLoS One. 2010; 5(8): e12213. Published online 2010 Aug 16. doi: 10.1371/journal.pone.0012213

PMCID:: PMC2922377

Abstract Article PDF–754K

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