Associated Papers
Detection Rate of Cataract-Related Gene Variants in Sporadic Childhood Cataract Patients in Southern China.
Luo Z et al.
American Journal of Ophthalmology, 2025
Genetic Landscape of Congenital Cataracts in a Swiss Cohort: Addressing Diagnostic Oversights in Nance-Horan Syndrome.
Delas F et al.
Biomedicines, 2025
Abnormal function of EPHA2/p.R957P mutant in congenital cataract.
Zhang JJ et al.
International Journal of Ophthalmology, 2024
Mutational spectrum in a Chinese cohort with congenital cataracts.
Liu HL et al.
Molecular Genetics & Genomic Medicine, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Roles of Eph-Ephrin Signaling in the Eye Lens Cataractogenesis, Biomechanics, and Homeostasis.
Murugan S et al.
Frontiers in Cell and Developmental Biology, 2022
Molecular and Genetic Mechanism of Non-Syndromic Congenital Cataracts. Mutation Screening in Spanish Families.
Fernández-Alcalde C et al.
Genes, 2021
EPHA2 Segregates with Microphthalmia and Congenital Cataracts in Two Unrelated Families.
Harding P et al.
International Journal of Molecular Sciences, 2021
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
Next generation sequencing-based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes.
Astiazarán MC et al.
American Journal of Medical Genetics. Part A, 2018
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
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract.
Reis LM et al.
Molecular Vision, 2014
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
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