Associated Papers
Therapeutic mRNA delivery of CRISPR-Cas9 to the trabecular meshwork reverses ocular hypertension in myocilin glaucoma.
Yacoub S et al.
Molecular Therapy. Methods & Clinical Development, 2025
Evaluating Practical Approaches for Including MYOC Variants Alongside Common Variants for Genetics-Based Risk Stratification for Glaucoma.
Le NQ et al.
American Journal of Ophthalmology, 2025
Identification and structural analysis of pathogenic variants in MYOC and CYP1B1 genes in Indian JOAG patients.
Yadav M et al.
Japanese Journal of Ophthalmology, 2025
Progress in Translating Glaucoma Genetics Into the Clinic: A Review.
Kolovos A et al.
Clinical & Experimental Ophthalmology, 2025
Structural basis for anomalous cellular trafficking behavior of glaucoma-associated A427T mutant myocilin.
Hill KR et al.
Biorxiv : the Preprint Server for Biology, 2025
Antibody-mediated clearance of an ER-resident aggregate that causes glaucoma.
Ma MT et al.
Pnas Nexus, 2025
Protein misfolding and mitochondrial dysfunction in glaucoma.
Venkatesan A et al.
Frontiers in Cell and Developmental Biology, 2025
Identification of mutation of MYOC (c.1099G>A), a pedigree pathogenic gene of juvenile open angle glaucoma (JOAG): A case report.
Zheng J et al.
Medicine, 2024
Childhood glaucoma: Implications for genetic counselling.
Maxwell G et al.
Clinical Genetics, 2024
A novel LTBP2 gene variant in a Turkish family with juvenile-onset open-angle glaucoma.
Bozkurt B et al.
Ophthalmic Genetics, 2024
Exploring the Genetic Landscape of Childhood Glaucoma.
Pan Y et al.
Children (basel, Switzerland), 2024
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
Rodent genetically modified models of glaucoma.
Loo Y et al.
Molecular Aspects of Medicine, 2024
Serine to proline mutation at position 341 of MYOC impairs trabecular meshwork function by causing autophagy deregulation.
Yan X et al.
Cell Death Discovery, 2024
Genetic changes and testing associated with childhood glaucoma: A systematic review.
Kumar A et al.
Plos One, 2024
Evaluation of Myocilin Variant Protein Structures Modeled by AlphaFold2.
Ng TK et al.
Biomolecules, 2023
Analysis of glaucoma genes in Finnish patients with juvenile open-angle glaucoma.
Liuska PJ et al.
Acta Ophthalmologica, 2023
Human Pro370Leu Mutant Myocilin Induces the Phenotype of Open-Angle Glaucoma in Transgenic Mice.
Cheng Y et al.
Cellular and Molecular Neurobiology, 2023
Myocilin misfolding and glaucoma: A 20-year update.
Saccuzzo EG et al.
Progress in Retinal and Eye Research, 2023
Association of EFEMP1 with juvenile-onset open angle glaucoma in a patient with concomitant COL11A1-related Stickler syndrome.
Gupta V et al.
Ophthalmic Genetics, 2023
Digenic Inheritance in Juvenile Open-Angle Glaucoma.
Somarajan BI et al.
Journal of Pediatric Genetics, 2023
Molecular genetics of primary open-angle glaucoma.
Yadav M et al.
Indian Journal of Ophthalmology, 2023
Quantitative differentiation of benign and misfolded glaucoma-causing myocilin variants on the basis of protein thermal stability.
Scelsi HF et al.
Disease Models & Mechanisms, 2023
Genetics and Glaucoma: the state of the art.
Tirendi S et al.
Frontiers in Medicine, 2023
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
Penetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis.
Xie JJ et al.
Ophthalmic Genetics, 2022
The genetics of glaucoma: Disease associations, personalised risk assessment and therapeutic opportunities-A review.
Aboobakar IF et al.
Clinical & Experimental Ophthalmology, 2022
Variant Curation is Crucial to Claim Digenic Inheritance in Juvenile Open Angle Glaucoma.
Poon KS et al.
Global Medical Genetics, 2022
Myocilin Gene Mutation Induced Autophagy Activation Causes Dysfunction of Trabecular Meshwork Cells.
Yan X et al.
Frontiers in Cell and Developmental Biology, 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
Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.
Scelsi HF et al.
Human Mutation, 2021
Molecular Insights into Myocilin and Its Glaucoma-Causing Misfolded Olfactomedin Domain Variants.
Lieberman RL et al.
Accounts of Chemical Research, 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
Glaucoma phenotype in a large Chinese family with myocilin Val251Ala mutation.
Lu H et al.
Genomics, 2020
Characterization of a novel mutation in the MYOC gene in a Chinese family with primary open‑angle glaucoma.
Fan W et al.
Molecular Medicine Reports, 2020
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
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
The clinical feature of myocilin Y437H mutation in a Chinese family with primary open-angle glaucoma.
Lei L et al.
The British Journal of Ophthalmology, 2019
Mendelian genes in primary open angle glaucoma.
Sears NC et al.
Experimental Eye Research, 2019
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
[Analysis of MYOC gene variants among sporadic patients with primary open-angle glaucoma].
Zhang X et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019
Clinical application of NGS-based SNP haplotyping for the preimplantation genetic diagnosis of primary open angle glaucoma.
Ji X et al.
Systems Biology in Reproductive Medicine, 2019