Associated Papers
Acid sphingomyelinase inhibition restores RPE homeostasis and photoreceptor function in preclinical Stargardt macular degeneration models.
Germer CJ et al.
Biorxiv : the Preprint Server for Biology, 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
Genetic removal of Nlrp3 protects against age-related and R345W Efemp1-induced basal laminar deposit formation.
Ortega AJ et al.
Cell Death & Disease, 2025
Cystoid Macular Lesions in Inherited Retinal Diseases: Prevalence, Characteristics, and Genetic Associations in a Hungarian Cohort.
Asboth B et al.
Genes, 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 New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant.
Chacon-Camacho OF et al.
American Journal of Medical Genetics. Part A, 2025
RPE Basal Lamina Biology and Pathophysiology Related to Age-Related Macular Degeneration.
Daniel S et al.
Advances in Experimental Medicine and Biology, 2025
Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese, Autosomal Dominant Drusen).
Hartung KJ et al.
Advances in Experimental Medicine and Biology, 2025
Human iPSC-based disease modeling studies identify a common mechanistic defect and potential therapies for AMD and related macular dystrophies.
Dalvi S et al.
Developmental Cell, 2024
Genetic and Cellular Basis of Impaired Phagocytosis and Photoreceptor Degeneration in CLN3 Disease.
Han J et al.
Investigative Ophthalmology & Visual Science, 2024
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Genetic removal of Nlrp3 protects against sporadic and R345W Efemp1-induced basal laminar deposit formation.
Ortega AJ et al.
Biorxiv : the Preprint Server for Biology, 2024
GSK3 inhibition reduces ECM production and prevents age-related macular degeneration-like pathology.
DiCesare SM et al.
Jci Insight, 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
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
Lin S et al.
Ophthalmology. Retina, 2024
Genetic and cellular basis of impaired phagocytosis and photoreceptor degeneration in CLN3 disease.
Han J et al.
Biorxiv : the Preprint Server for Biology, 2024
A Long-Term Retrospective Natural History Study of EFEMP1-Associated Autosomal Dominant Drusen.
de Guimarães TAC et al.
Investigative Ophthalmology & Visual Science, 2024
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder.
Forghani I et al.
American Journal of Medical Genetics. Part A, 2024
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.
Georgiou M et al.
Progress in Retinal and Eye Research, 2024
Optical Coherence Tomography in Inherited Macular Dystrophies: A Review.
Gómez-Benlloch A et al.
Diagnostics (basel, Switzerland), 2024
CFH Haploinsufficiency and Complement Alterations in Early-Onset Macular Degeneration.
Lim RR et al.
Investigative Ophthalmology & Visual Science, 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
A Zebrafish Mutant in the Extracellular Matrix Protein Gene efemp1 as a Model for Spinal Osteoarthritis.
Raman R et al.
Animals : an Open Access Journal From Mdpi, 2023
GSK3 inhibition reduces ECM production and prevents age-related macular degeneration-like pathology.
DiCesare SM et al.
Biorxiv : the Preprint Server for Biology, 2023
Distinct Phenotypic Consequences of Pathogenic Mutants Associated with Late-Onset Retinal Degeneration.
Xu L et al.
The American Journal of Pathology, 2023
MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations.
Cristofoli F et al.
Genes, 2023
How to Set Up Genetic Counselling for Inherited Macular Dystrophies: Focus on Genetic Characterization.
Raimondi R et al.
International Journal of Molecular Sciences, 2023
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
Bruch's Membrane: A Key Consideration with Complement-Based Therapies for Age-Related Macular Degeneration.
Hammadi S et al.
Journal of Clinical Medicine, 2023
Electrophysiological Evaluation of Macular Dystrophies.
Chiang TK et al.
Journal of Clinical Medicine, 2023
Complement factor B is critical for sub-RPE deposit accumulation in a model of Doyne honeycomb retinal dystrophy with features of age-related macular degeneration.
Crowley MA et al.
Human Molecular Genetics, 2023
The extracellular microenvironment in immune dysregulation and inflammation in retinal disorders.
Biasella F et al.
Frontiers in Immunology, 2023
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
TAILS Identifies Candidate Substrates and Biomarkers of ADAMTS7, a Therapeutic Protease Target in Coronary Artery Disease.
MacDonald BT et al.
Molecular & Cellular Proteomics : Mcp, 2022
The second Japanese family with Malattia Leventinese/Doyne honeycomb retinal dystrophy.
Enomoto N et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2022
EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma.
Collantes ERA et al.
Human Mutation, 2022
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
Diagnostic definition of malattia leventinese in a family from Colombia
Gelvez N et al.
Biomedica : Revista Del Instituto Nacional De Salud, 2021
Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.
van Eyk CL et al.
Npj Genomic Medicine, 2021
AMD-Like Substrate Causes Epithelial Mesenchymal Transition in iPSC-Derived Retinal Pigment Epithelial Cells Wild Type but Not C3-Knockout.
Chinchilla B et al.
International Journal of Molecular Sciences, 2021
Complement C5 is not critical for the formation of sub-RPE deposits in Efemp1 mutant mice.
Garland DL et al.
Scientific Reports, 2021
First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia.
Sheyanth IN et al.
Molecular Genetics & Genomic Medicine, 2021
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
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
Maggi J et al.
International Journal of Molecular Sciences, 2021
The interplay of oxidative stress and ARMS2-HTRA1 genetic risk in neovascular AMD.
Lu ZG et al.
Vessel Plus, 2021