Associated Papers
Abnormal function of EPHA2/p.R957P mutant in congenital cataract.
Zhang JJ et al.
International Journal of Ophthalmology, 2024
Roles of Eph-Ephrin Signaling in the Eye Lens Cataractogenesis, Biomechanics, and Homeostasis.
Murugan S et al.
Frontiers in Cell and Developmental Biology, 2022
Functional analysis of deleterious EPHA2 SNPs in lens epithelial cells.
Li D et al.
Molecular Vision, 2021
Functional analysis of deleterious EPHA2 SNPs in lens epithelial cells.
Li D et al.
Molecular Vision, 2021
Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family.
Li B et al.
Journal of Ophthalmology, 2020
32148946 (PubMed )
Supplement: 7054315.f1.pdf
A Novel Human Congenital Cataract Mutation in EPHA2 Kinase Domain (p.G668D) Alters Receptor Stability and Function.
Zhai Y et al.
Investigative Ophthalmology & Visual Science, 2019
Biology of Inherited Cataracts and Opportunities for Treatment.
Shiels A et al.
Annual Review of Vision Science, 2019
A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract.
Berry V et al.
Ophthalmic Genetics, 2018
EPHA2 MUTATIONS CONTRIBUTE TO CONGENITAL CATARACT THROUGH DIVERSE MECHANISMS.
Dave A et al.
Molecular Vision, 2016
A novel p.R890C mutation in EPHA2 gene associated with progressive childhood posterior cataract in a Chinese family.
Shentu XC et al.
International Journal of Ophthalmology, 2013
Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia.
Dave A et al.
Plos One, 2013
Human cataract mutations in EPHA2 SAM domain alter receptor stability and function.
Park JE et al.
Plos One, 2012
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
The EPHA2 gene is associated with cataracts linked to chromosome 1p.
Shiels A et al.
Molecular Vision, 2008
Molecular characteristics of inherited congenital cataracts.
Huang B et al.
European Journal of Medical Genetics, 0
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