Associated Papers
A review of the role of EFEMP1 in ophthalmic disease.
Wood AJ et al.
Ophthalmic Genetics, 2025
A spectrum of cysteine mutations in fibulin-3 highlight its disulfide bonding complexity and potential to induce ER stress.
Collier GE et al.
Scientific Reports, 2025
A spectrum of clinically-identified cysteine mutations in fibulin-3 (EFEMP1) highlight its disulfide bonding complexity and potential to induce stress response activation.
Collier GE et al.
Biorxiv : the Preprint Server for Biology, 2024
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
Genetic changes and testing associated with childhood glaucoma: A systematic review.
Kumar A et al.
Plos One, 2024
38386645 (PubMed )
Supplement: pone.0298883.s003.xlsx › Non-Case_Studies
EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma.
Collantes ERA et al.
Human Mutation, 2022
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
Select a paper to view details