Associated Papers
Somatic Mutations within Myocilin due to Aging May Be a Potential Risk Factor for Glaucoma.
Sazhnyev Y et al.
Genes, 2024
Myocilin misfolding and glaucoma: A 20-year update.
Saccuzzo EG et al.
Progress in Retinal and Eye Research, 2023
Molecular genetics of primary open-angle glaucoma.
Yadav M et al.
Indian Journal of Ophthalmology, 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Clinical and genetic analysis of Ser341Pro MYOC variant in a Korean family with primary open angle glaucoma.
Moon S et al.
International Journal of Ophthalmology, 2020
A recurrent G367R mutation in MYOC associated with juvenile open angle glaucoma in a large Chinese family.
Yao YH et al.
International Journal of Ophthalmology, 2018
Structure and Misfolding of the Flexible Tripartite Coiled-Coil Domain of Glaucoma-Associated Myocilin.
Hill SE et al.
Structure (london, England : 1993), 2017
Targeting the ER-autophagy system in the trabecular meshwork to treat glaucoma.
Stothert AR et al.
Experimental Eye Research, 2016
Identification of a novel MYOC mutation in a Chinese family with primary open-angle glaucoma.
Yang Y et al.
Gene, 2015
Mutation analysis of seven known glaucoma-associated genes in Chinese patients with glaucoma.
Huang X et al.
Investigative Ophthalmology & Visual Science, 2014
Correction of the disease phenotype of myocilin-causing glaucoma by a natural osmolyte.
Jia LY et al.
Investigative Ophthalmology & Visual Science, 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
In vitro and in vivo characterization of disulfide bond use in myocilin complex formation.
Fautsch MP et al.
Molecular Vision, 2004
Genetic dissection of myocilin glaucoma.
Gong G et al.
Human Molecular Genetics, 2004
Recent advances in molecular genetics of glaucoma.
Ray K et al.
Molecular and Cellular Biochemistry, 2003
Founder TIGR/myocilin mutations for glaucoma in the Québec population.
Faucher M et al.
Human Molecular Genetics, 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
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.
Fingert JH et al.
Human Molecular Genetics, 1999
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