Associated Papers
Genetic architecture of congenital cataracts: correlation of pathogenic variants with morphology and clinical outcomes.
Guo D et al.
Progress in Retinal and Eye Research, 2025
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
Autophagy and Mitophagy-Related Pathways at the Crossroads of Genetic Pathways Involved in Familial Sarcoidosis and Host-Pathogen Interactions Induced by Coronaviruses.
Pacheco Y et al.
Cells, 2021
34440765 (PubMed )
Supplement: cells-10-01995-s001.zip › Table_S1_-_Pacheco_and_al_-_Manuscript_ID_CELLS_1218790.xlsx › Feuil1
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
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
G908R NOD2 variant in a family with sarcoidosis.
Besnard V et al.
Respiratory Research, 2018
Germ-line and somatic EPHA2 coding variants in lens aging and cataract.
Bennett TM et al.
Plos One, 2017
29267365 (PubMed )
Supplement: pone.0189881.s004.xlsx › S4a._Clear__1__all
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
Select a paper to view details