Associated Papers
Abnormal function of EPHA2/p.R957P mutant in congenital cataract.
Zhang JJ et al.
International Journal of Ophthalmology, 2024
Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma.
Harding P et al.
The British Journal of Ophthalmology, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
EPHA2 Segregates with Microphthalmia and Congenital Cataracts in Two Unrelated Families.
Harding P et al.
International Journal of Molecular Sciences, 2021
Clinical Spectrum and Genetic Diagnosis of 54 Consecutive Patients Aged 0-25 with Bilateral Cataracts.
Bell S et al.
Genes, 2021
Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.
Jackson D et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing.
Li S et al.
Bmc Medical Genetics, 2019
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
A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract.
Berry V et al.
Ophthalmic Genetics, 2018
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
Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia.
Dave A et al.
Plos One, 2013
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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