Associated Papers
Protein misfolding and mitochondrial dysfunction in glaucoma.
Venkatesan A et al.
Frontiers in Cell and Developmental Biology, 2025
In vivo identification of angle dysgenesis and its relation to genetic markers associated with glaucoma using artificial intelligence.
Gupta V et al.
Indian Journal of Ophthalmology, 2024
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
Genetics and Glaucoma: the state of the art.
Tirendi S et al.
Frontiers in Medicine, 2023
EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma.
Collantes ERA et al.
Human Mutation, 2022
Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.
Scelsi HF et al.
Human Mutation, 2021
The mutational spectrum of Myocilin gene among familial versus sporadic cases of Juvenile onset open angle glaucoma.
Gupta V et al.
Eye (london, England), 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 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
Targeting the ER-autophagy system in the trabecular meshwork to treat glaucoma.
Stothert AR et al.
Experimental Eye Research, 2016
Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.
Xie X et al.
Molecular Vision, 2008
Expression and characterization of the olfactomedin domain of human myocilin.
Nagy I et al.
Biochemical and Biophysical Research Communications, 2003
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
Rapid mutation detection by the transgenomic wave analyser DHPLC identifies MYOC mutations in patients with ocular hypertension and/or open angle glaucoma.
Cobb CJ et al.
The British Journal of Ophthalmology, 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
Childhood-onset primary open angle glaucoma in a Canadian kindred: clinical and molecular genetic features.
Damji KF et al.
Ophthalmic Genetics, 1999
Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma.
Stoilova D et al.
Journal of Medical Genetics, 1998
Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma.
Adam MF et al.
Human Molecular Genetics, 1997
Identification of a new 'TIGR' mutation in a family with juvenile-onset primary open angle glaucoma.
Stoilova D et al.
Ophthalmic Genetics, 1997
Juvenile-onset open-angle glaucoma - A clinical and genetic update.
Selvan H et al.
Survey of Ophthalmology, 0