Associated Papers
Somatic Mutations within Myocilin due to Aging May Be a Potential Risk Factor for Glaucoma.
Sazhnyev Y et al.
Genes, 2024
38397193 (PubMed )
Supplement: genes-15-00203-s001.zip › genes-2821445-supplementary.xlsx › Sheet1
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.
Burdon KP 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
Targeting the ER-autophagy system in the trabecular meshwork to treat glaucoma.
Stothert AR et al.
Experimental Eye Research, 2016
Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an Australasian disease registry.
Souzeau E et al.
Ophthalmology, 2013
Cystatin a, a potential common link for mutant myocilin causative glaucoma.
Kennedy KD et al.
Plos One, 2012
Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma.
Wirtz MK et al.
American Journal of Ophthalmology, 2007
The optic nerve head in myocilin glaucoma.
Hewitt AW et al.
Investigative Ophthalmology & Visual Science, 2007
Genetic dissection of myocilin glaucoma.
Gong G et al.
Human Molecular Genetics, 2004
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
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
The effects of myocilin expression on functionally relevant trabecular meshwork genes: a mini-review.
Borrás T
Journal of Ocular Pharmacology and Therapeutics : the Official Journal of the Association for Ocular Pharmacology and Therapeutics, 0
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