Associated Papers
Large-Scaled Proteomics Analysis for Glaucoma: Integrated Genetics, Multi-Omics, UK Biobank and Therapeutic Analysis.
Xu J et al.
Investigative Ophthalmology & Visual Science, 2026
Using Genetics for Glaucoma Screening and Risk Stratification: The LXXXII Edward Jackson Memorial Lecture.
Wiggs JL
American Journal of Ophthalmology, 2026
A review of the role of EFEMP1 in ophthalmic disease.
Wood AJ et al.
Ophthalmic Genetics, 2025
Stop codon variant in EFEMP1 is associated with primary open-angle glaucoma due to impaired regulation of aqueous humor outflow.
Tan J et al.
Experimental Eye Research, 2024
Novel mutation in EFEMP1 identified from two Chinese POAG families differentially activated endoplasmic reticulum stress markers and induced glaucoma in mouse.
Xiao X et al.
Journal of Cellular Biochemistry, 2024
Association of EFEMP1 with juvenile-onset open angle glaucoma in a patient with concomitant COL11A1-related Stickler syndrome.
Gupta V et al.
Ophthalmic Genetics, 2023
Molecular genetics of primary open-angle glaucoma.
Yadav M et al.
Indian Journal of Ophthalmology, 2023
EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma.
Collantes ERA et al.
Human Mutation, 2022
Clinically-identified C-terminal mutations in fibulin-3 are prone to misfolding and destabilization.
Woodard DR et al.
Scientific Reports, 2021
Fibulin-3 knockout mice demonstrate corneal dysfunction but maintain normal retinal integrity.
Daniel S et al.
Journal of Molecular Medicine (berlin, Germany), 2020
Analysis of variants in Chinese individuals with primary open-angle glaucoma using molecular inversion probe (MIP)-based panel sequencing.
Liu T et al.
Molecular Vision, 2020
Research progress on human genes involved in the pathogenesis of glaucoma (Review).
Wang HW et al.
Molecular Medicine Reports, 2018
Major review: Molecular genetics of primary open-angle glaucoma.
Liu Y et al.
Experimental Eye Research, 2017
Mapping wild-type and R345W fibulin-3 intracellular interactomes.
Hulleman JD et al.
Experimental Eye Research, 2016
Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma.
Mackay DS et al.
Plos One, 2015
Mutations in EFEMP1 in Patients with Juvenile Open-Angle Glaucoma.
Tejan-Kamara AZ et al.
Ophthalmology. Glaucoma, 0
Long-Term Follow-Up on a Juvenile Open-Angle Glaucoma Pedigree with a Novel EFEMP1 Mutation (c.1313, p.Tyr438Cys).
Young BP et al.
Ophthalmology. Glaucoma, 0