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Article

Somatic Mutations within Myocilin due to Aging May Be a Potential Risk Factor for Glaucoma.

Genes - 4 Feb 2024

Sazhnyev Yevgeniy, Venkat Akaash, Zheng Jie J

Abstract excerpt

Glaucoma is a chronic optic neuropathy that leads to irreversible vision loss. Aging and family history are the two most important risk factors of glaucoma. One of the most studied genes involved in the onset of open-angle glaucoma is myocilin (MYOC). About 105 germline mutations within MYOC are known to be associated with glaucoma and result in endoplasmic reticulum (ER) stress, which leads to trabecular...

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Identifiers

PMID: 38397193
DOI: 10.3390/genes15020203
PMCID: PMC10887703

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Somatic Mutations within Myocilin due to Aging May Be a Potential Risk Factor for Glaucoma.PMID 38397193Read ↗

Somatic Mutations within Myocilin due to Aging may be a Potential Risk Factor for Glaucoma.Semantic proximity Read ↗

Serine to proline mutation at position 341 of MYOC impairs trabecular meshwork function by causing autophagy deregulationSemantic proximity Read ↗

Age at Glaucoma Diagnosis in Germline Myocilin Mutation Patients: Associations with Polymorphisms in Protein Stabilities.Semantic proximity Read ↗

Serine to proline mutation at position 341 of MYOC impairs trabecular meshwork function by causing autophagy deregulationSemantic proximity Read ↗

Cystatin a, a potential common link for mutant myocilin causative glaucoma.Semantic proximity Read ↗

PRIMARY OPEN-ANGLE GLAUCOMA DUE TO MUTATIONS IN THE MYOC GENE.Semantic proximity Read ↗

Myocilin Gene Mutation Induced Autophagy Activation Causes Dysfunction of Trabecular Meshwork CellsSemantic proximity Read ↗

Myocilin gene mutations: A cause of juvenile open-angle glaucoma in north IndiaSemantic proximity Read ↗

Keeping an Eye on Myocilin: A Complex Molecule Associated with Primary Open-Angle Glaucoma SusceptibilitySemantic proximity Read ↗

Cross-talk between MYOC p. Y437H mutation and TGF-β2 in the pathology of glaucoma.Semantic proximity Read ↗

Accumulation of Asn450Tyr mutant myocilin in ER promotes apoptosis of human trabecular meshwork cells.Semantic proximity Read ↗

MYOC/p.G367R mutation induces cell dysfunction of the trabecular meshwork and retina via impairment of the protein degradation mechanismSemantic proximity Read ↗

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