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
Calcium dysregulation potentiates wild-type myocilin misfolding: implications for glaucoma pathogenesis.
Saccuzzo EG et al.
Journal of Biological Inorganic Chemistry : Jbic : a Publication of the Society of Biological Inorganic Chemistry, 2022
Structure‒function‒pathogenicity analysis of C-terminal myocilin missense variants based on experiments and 3D models.
Zhou B et al.
Frontiers in Genetics, 2022
36267417 (PubMed )
Supplement: Table1.xlsx › Sheet1
Stable calcium-free myocilin olfactomedin domain variants reveal challenges in differentiating between benign and glaucoma-causing mutations.
Hill SE et al.
The Journal of Biological Chemistry, 2019
Targeting the ER-autophagy system in the trabecular meshwork to treat glaucoma.
Stothert AR et al.
Experimental Eye Research, 2016
Cystatin a, a potential common link for mutant myocilin causative glaucoma.
Kennedy KD et al.
Plos One, 2012
Rescue of glaucoma-causing mutant myocilin thermal stability by chemical chaperones.
Burns JN et al.
Acs Chemical Biology, 2010
New mutation in the MYOC gene and its association with primary open-angle glaucoma in a Chinese family.
Qu X et al.
Molecular Biology Reports, 2010
Overexpression of myocilin in the Drosophila eye activates the unfolded protein response: implications for glaucoma.
Carbone MA et al.
Plos One, 2009
Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.
Xie X et al.
Molecular Vision, 2008
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
Genetic dissection of myocilin glaucoma.
Gong G et al.
Human Molecular Genetics, 2004
Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa.
Challa P et al.
Journal of Glaucoma, 2002
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