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
Biallelic and monoallelic variants in EFEMP1 can cause a severe and distinct subtype of heritable connective tissue disorder.
Mol MO et al.
European Journal of Human Genetics : Ejhg, 2024
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
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder.
Forghani I et al.
American Journal of Medical Genetics. Part A, 2024
Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations.
Verlee M et al.
Genes, 2021
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
Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3.
Bizzari S et al.
European Journal of Medical Genetics, 2020
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