Identification of Six Novel Mutations inZEB1and Description of the Associated Phenotypes in Patients with Posterior Polymorphous Corneal Dystrophy 3-Reference-Cited by-同舟云学术

Identification of Six Novel Mutations inZEB1and Description of the Associated Phenotypes in Patients with Posterior Polymorphous Corneal Dystrophy 3

Published:2014-12-01 Issue:1 Volume:79 Page:1-9
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Evans Cerys J.¹,Liskova Petra¹²³,Dudakova Lubica²,Hrabcikova Pavlina⁴,Horinek Ales⁵⁶,Jirsova Katerina²,Filipec Martin⁷,Hardcastle Alison J.¹,Davidson Alice E.¹,Tuft Stephen J.¹⁸

Affiliation:

1. UCL Institute of Ophthalmology; London UK

2. Laboratory of the Biology and Pathology of the Eye; Institute of Inherited Metabolic Disorders; First Faculty of Medicine; Charles University in Prague and General University Hospital in Prague; Czech Republic

3. Department of Ophthalmology; First Faculty of Medicine; Charles University in Prague and General University Hospital in Prague; Czech Republic

4. Department of Ophthalmology; Faculty of Medicine and Dentistry; Palacky University Olomouc; Czech Republic

5. 3rd Department of Medicine-Department of Endocrinology and Metabolism; First Faculty of Medicine; Charles University in Prague and General University Hospital in Prague; Czech Republic

6. Institute of Biology and Human Genetics; First Faculty of Medicine; Charles University in Prague and General University Hospital in Prague; Czech Republic

7. Lexum European Eye Clinic; Prague Czech Republic

8. Moorfields Eye Hospital NHS Foundation Trust; London UK

Funder

Czech Science Foundation

National Institute for Health Research

Fight for Sight UK

Rosetrees Trust

Charles University in Prague

Lanvern Foundation

Moorfields Eye Charity

Moorfields Special Trustees

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ahg.12090/fullpdf

Reference27 articles.

1. Classification of posterior polymorphous corneal dystrophy as a corneal ectatic disorder following confirmation of associated significant corneal steepening;Aldave;JAMA Ophthalmol,2013

2. Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia;Aldave;Am J Med Genet A,2007

3. 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;Mol Vis,2013

4. Prevalence and natural history of cryptorchidism;Berkowitz;Pediatrics,1993

5. Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy;Biswas;Hum Mol Genet,2001

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3. Systematic review of SLC4A11, ZEB1, LOXHD1, and AGBL1 variants in the development of Fuchs’ endothelial corneal dystrophy;Frontiers in Medicine;2023-06-27

4. Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy;Acta Ophthalmologica;2023-03-07

5. Posterior Polymorphous Corneal Dystrophy in a Patient with a Novel ZEB1 Gene Mutation;International Journal of Molecular Sciences;2022-12-22