Analysis of KERA in four families with cornea plana identifies two novel mutations-Reference-Cited by-同舟云学术

Analysis of KERA in four families with cornea plana identifies two novel mutations

Published:2017-07-05 Issue:1 Volume:96 Page:e87-e91
ISSN:1755-375X
Container-title:Acta Ophthalmologica
language:en
Short-container-title:Acta Ophthalmol

Author:

Dudakova Lubica¹,Vercruyssen Jang Hee J.²,Balikova Irina²³,Postolache Lavina³,Leroy Bart P.²⁴⁵,Skalicka Pavlina¹⁶,Liskova Petra¹⁶^ORCID

Affiliation:

1. Institute of Inherited Metabolic Disorders; First Faculty of Medicine; Charles University and General University Hospital in Prague; Praha Czech Republic

2. Department of Ophthalmology; Ghent University Hospital; Ghent Belgium

3. Department of Ophthalmology; Queen Fabiola Children's University Hospital; Brussels Belgium

4. Center for Medical Genetics; Ghent University Hospital and Ghent University; Ghent Belgium

5. Division of Ophthalmology and Center for Cellular and Molecular Therapeutics; The Children's Hospital of Philadelphia; Philadelphia PA USA

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

Funder

Univerzita Karlova v Praze

Publisher

Wiley

Subject

Ophthalmology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/aos.13484/fullpdf

Reference30 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

2. Regarding corneal decompensation in recessive cornea plana;AlBakri;Ophthalmic Genet,2016

3. Prediction of human mRNA donor and acceptor sites from the DNA sequence;Brunak;J Mol Biol,1991

4. Functional annotations improve the predictive score of human disease-related mutations in proteins;Calabrese;Hum Mutat,2009

5. Predicting the functional effect of amino acid substitutions and indels;Choi;PLoS ONE,2012

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Cornea and Sclera;Ocular Pathology;2025

2. Snail Track Lesion with Flat Keratometry in Anterior Segment Dysgenesis Caused by a Novel FOXC1 Variant;Journal of Clinical Medicine;2022-08-31

3. Sequence features, structure, ligand interaction, and diseases in small leucine rich repeat proteoglycans;Journal of Cell Communication and Signaling;2021-04-15

4. Novel variants in the KERA gene cause autosomal recessive cornea plana in a Chinese family: A case report;Molecular Medicine Reports;2019-04-11

5. Leucine Rich Repeat Proteins: Sequences, Mutations, Structures and Diseases;Protein & Peptide Letters;2019-02-20