Literature DB >> 31201376

CUGC for posterior polymorphous corneal dystrophy (PPCD).

Alice E Davidson1, Nathaniel J Hafford-Tear2, Lubica Dudakova3, Amanda N Sadan2, Nikolas Pontikos2, Alison J Hardcastle2, Stephen J Tuft2,4, Petra Liskova3.   

Abstract

Name of the disease (synonyms) CUGC for posterior polymorphous corneal dystrophy (PPCD).OMIM# of the disease 122000; 609141; 618031.Name of the analysed genes or DNA/chromosome segments OVOL2 (PPCD1); ZEB1 (PPCD3); GRHL2 (PPCD4).OMIM# of the gene(s) 616441; 189909; 608576. Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for variants in theOVOL2, ZEB1andGRHL2gene(s) in a diagnostic setting, predictive and parental settings and for risk assesment in relatives.

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Year:  2019        PMID： 31201376      PMCID： PMC6906511          DOI： 10.1038/s41431-019-0448-8

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   5.351


  15 in total

1.  Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene.

Authors:  Rhian Gwilliam; Petra Liskova; Martin Filipec; Stanislav Kmoch; Katerina Jirsova; Elizabeth J Huckle; Catherine L Stables; Shomi S Bhattacharya; Alison J Hardcastle; Panos Deloukas; Neil D Ebenezer
Journal:  Invest Ophthalmol Vis Sci       Date:  2005-12       Impact factor: 4.799

2.  Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3.

Authors:  Petra Liskova; Michalis Palos; Alison J Hardcastle; Andrea L Vincent
Journal:  JAMA Ophthalmol       Date:  2013-10       Impact factor: 7.389

3.  Classification of posterior polymorphous corneal dystrophy as a corneal ectatic disorder following confirmation of associated significant corneal steepening.

Authors:  Anthony J Aldave; Lydia B Ann; Ricardo F Frausto; Catherine K Nguyen; Fei Yu; Irving M Raber
Journal:  JAMA Ophthalmol       Date:  2013-12       Impact factor: 7.389

4.  Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells.

Authors:  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
Journal:  Am J Hum Genet       Date:  2005-09-14       Impact factor: 11.025

5.  Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.

Authors:  S Biswas; F L Munier; J Yardley; N Hart-Holden; R Perveen; P Cousin; J E Sutphin; B Noble; M Batterbury; C Kielty; A Hackett; R Bonshek; A Ridgway; D McLeod; V C Sheffield; E M Stone; D F Schorderet; G C Black
Journal:  Hum Mol Genet       Date:  2001-10-01       Impact factor: 6.150

6.  The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis.

Authors:  Lubica Dudakova; Cerys J Evans; Nikolas Pontikos; Nathaniel J Hafford-Tear; Frantisek Malinka; Pavlina Skalicka; Ales Horinek; Francis L Munier; Nathalie Voide; Pavel Studeny; Lucia Vanikova; Tomas Kubena; Karla E Rojas Lopez; Alice E Davidson; Alison J Hardcastle; Stephen J Tuft; Petra Liskova
Journal:  Exp Eye Res       Date:  2019-03-07       Impact factor: 3.467

7.  Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.

Authors:  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
Journal:  Hum Mutat       Date:  2007-06       Impact factor: 4.878

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

Authors:  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
Journal:  Eur J Hum Genet       Date:  2015-10-28       Impact factor: 4.246

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

Authors:  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
Journal:  Am J Hum Genet       Date:  2018-03-01       Impact factor: 11.025

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

Authors:  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
Journal:  Am J Hum Genet       Date:  2015-12-31       Impact factor: 11.025
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