Associated Papers
GOLF: A Generative AI Framework for Pathogenicity Prediction of Myocilin OLF Variants.
Walton T et al.
Biorxiv : the Preprint Server for Biology, 2025
Protein misfolding and mitochondrial dysfunction in glaucoma.
Venkatesan A et al.
Frontiers in Cell and Developmental Biology, 2025
Somatic Mutations within Myocilin due to Aging May Be a Potential Risk Factor for Glaucoma.
Sazhnyev Y et al.
Genes, 2024
Genetic changes and testing associated with childhood glaucoma: A systematic review.
Kumar A et al.
Plos One, 2024
Myocilin misfolding and glaucoma: A 20-year update.
Saccuzzo EG et al.
Progress in Retinal and Eye Research, 2023
Quantitative differentiation of benign and misfolded glaucoma-causing myocilin variants on the basis of protein thermal stability.
Scelsi HF et al.
Disease Models & Mechanisms, 2023
Structure‒function‒pathogenicity analysis of C-terminal myocilin missense variants based on experiments and 3D models.
Zhou B et al.
Frontiers in Genetics, 2022
Prevalence of MYOC risk variants for glaucoma in different populations.
Liuska PJ et al.
Acta Ophthalmologica, 2021
Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.
Scelsi HF et al.
Human Mutation, 2021
Updates on the molecular genetics of primary congenital glaucoma (Review).
Ling C et al.
Experimental and Therapeutic Medicine, 2020
Genetic modifiers of long-term survival in sickle cell anemia.
Wonkam A et al.
Clinical and Translational Medicine, 2020
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
Occurrence of MYOC and CYP1B1 variants in juvenile open angle glaucoma Brazilian patients.
Svidnicki PV et al.
Ophthalmic Genetics, 2018
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 2016
Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.
Millá E et al.
Molecular Vision, 2013
Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma.
Liu W et al.
Molecular Vision, 2012
Myocilin mutations in black South Africans with POAG.
Whigham BT et al.
Molecular Vision, 2011
Multiple gene polymorphisms analysis revealed a different profile of genetic polymorphisms of primary open-angle glaucoma in northern Chinese.
Jia LY et al.
Molecular Vision, 2009
Functional analysis of the glaucoma-causing TIGR/myocilin protein: integrity of amino-terminal coiled-coil regions and olfactomedin homology domain is essential for extracellular adhesion and secretion.
Gobeil S et al.
Experimental Eye Research, 2006
Early adult-onset POAG linked to 15q11-13 using ordered subset analysis.
Allingham RR et al.
Investigative Ophthalmology & Visual Science, 2005
Genetic dissection of myocilin glaucoma.
Gong G et al.
Human Molecular Genetics, 2004
The dawn of genetic testing for glaucoma.
Cohen CS et al.
Current Opinion in Ophthalmology, 2004
Founder TIGR/myocilin mutations for glaucoma in the Québec population.
Faucher M et al.
Human Molecular Genetics, 2002
A multidomain TIGR/olfactomedin protein family with conserved structural similarity in the N-terminal region and conserved motifs in the C-terminal region.
Green ML et al.
Molecular & Cellular Proteomics : Mcp, 2002
Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension.
Fingert JH et al.
Investigative Ophthalmology & Visual Science, 2001
A cellular assay distinguishes normal and mutant TIGR/myocilin protein.
Zhou Z et al.
Human Molecular Genetics, 1999
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.
Fingert JH et al.
Human Molecular Genetics, 1999
Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma.
Wiggs JL et al.
American Journal of Human Genetics, 1998
A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors.
Teh BT et al.
American Journal of Human Genetics, 1998
Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma.
Allingham RR et al.
Investigative Ophthalmology & Visual Science, 1998
Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)
Alward WL et al.
The New England Journal of Medicine, 1998
Systemic Genotype-Phenotype Analysis of MYOC Variants Based on Exome Sequencing and Literature Review.
Li X et al.
Asia-pacific Journal of Ophthalmology (philadelphia, Pa.), 0
Prevalence of Myocilin Mutations in a Cohort of Patients with Juvenile Open-Angle Glaucoma from sub-Saharan Africa.
Olawoye O et al.
Ophthalmology. Glaucoma, 0