Associated Papers
Abnormal function of EPHA2/p.R957P mutant in congenital cataract.
Zhang JJ et al.
International Journal of Ophthalmology, 2024
Biallelic Variants in EPHA2 Identified in Three Large Inbred Families with Early-Onset Cataract.
Jarwar P et al.
International Journal of Molecular Sciences, 2021
A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract.
Berry V et al.
Ophthalmic Genetics, 2018
Structural investigation of a C-terminal EphA2 receptor mutant: Does mutation affect the structure and interaction properties of the Sam domain?
Mercurio FA et al.
Biochimica Et Biophysica Acta. Proteins and Proteomics, 2017
A novel splice donor site mutation in EPHA2 caused congenital cataract in a Chinese family.
Bu J et al.
Indian Journal of Ophthalmology, 2016
EPHA2 MUTATIONS CONTRIBUTE TO CONGENITAL CATARACT THROUGH DIVERSE MECHANISMS.
Dave A et al.
Molecular Vision, 2016
Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract.
Reis LM et al.
Molecular Vision, 2014
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
Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract.
Zhang T et al.
Human Mutation, 2009
Cataract-related mutations in EphA2: a survey of literature data and the relevance of the receptor Sam domain.
Vincenzi M et al.
Expert Opinion on Therapeutic Targets, 0
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