Associated Papers
Progress in Translating Glaucoma Genetics Into the Clinic: A Review.
Kolovos A et al.
Clinical & Experimental Ophthalmology, 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
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
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
Evaluation of Myocilin Variant Protein Structures Modeled by AlphaFold2.
Ng TK et al.
Biomolecules, 2023
Myocilin misfolding and glaucoma: A 20-year update.
Saccuzzo EG et al.
Progress in Retinal and Eye Research, 2023
Pirtobrutinib targets BTK C481S in ibrutinib-resistant CLL but second-site BTK mutations lead to resistance.
Naeem A et al.
Blood Advances, 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
Penetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis.
Xie JJ et al.
Ophthalmic Genetics, 2022
PRIMARY OPEN-ANGLE GLAUCOMA DUE TO MUTATIONS IN THE MYOC GENE.
Vergaro A et al.
Ceska a Slovenska Oftalmologie : Casopis Ceske Oftalmologicke Spolecnosti a Slovenske Oftalmologicke Spolecnosti, 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
Age at Glaucoma Diagnosis in Germline Myocilin Mutation Patients: Associations with Polymorphisms in Protein Stabilities.
Tanji T et al.
Genes, 2021
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
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Physiological function of myocilin and its role in the pathogenesis of glaucoma in the trabecular meshwork (Review).
Wang H et al.
International Journal of Molecular Medicine, 2019
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
Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma Leads to Early Identification of At-Risk Individuals.
Souzeau E et al.
Ophthalmology, 2017
Targeting the ER-autophagy system in the trabecular meshwork to treat glaucoma.
Stothert AR et al.
Experimental Eye Research, 2016
Candidate genes involved in the susceptibility of primary open angle glaucoma.
Kumar S et al.
Gene, 2016
Identification of a novel MYOC mutation in a Chinese family with primary open-angle glaucoma.
Yang Y et al.
Gene, 2015
Structural basis for misfolding in myocilin-associated glaucoma.
Donegan RK et al.
Human Molecular Genetics, 2015
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
The glaucoma-associated olfactomedin domain of myocilin is a novel calcium binding protein.
Donegan RK et al.
The Journal of Biological Chemistry, 2012
A novel MYOC heterozygous mutation identified in a Chinese Uygur pedigree with primary open-angle glaucoma.
Cai SP et al.
Molecular Vision, 2012
The stability of myocilin olfactomedin domain variants provides new insight into glaucoma as a protein misfolding disorder.
Burns JN et al.
Biochemistry, 2011
[Study on MYOC/TIGR gene mutations in primary open-angle glaucoma].
Chen JH et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2011
Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of primary open-angle glaucoma.
Chen J et al.
Molecular Vision, 2011
Pro370Leu myocilin mutation in a Chinese pedigree with juvenile-onset open angle glaucoma.
Wei YT et al.
Molecular Vision, 2011
[Current status of genome research on open-angle glaucoma in Finland].
Forsman E et al.
Duodecim; Laaketieteellinen Aikakauskirja, 2011
The novel Y371D myocilin mutation causes an aggressive form of juvenile open-angle glaucoma in a Caucasian family from the Middle-East.
Avisar I et al.
Molecular Vision, 2009
[Gene screening as the forewarning measure to predict glaucoma].
Wei YT et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2009
Multiple gene polymorphisms analysis revealed a different profile of genetic polymorphisms of primary open-angle glaucoma in northern Chinese.
Jia LY et al.
Molecular Vision, 2009
[Two variants in MYOC and CYP1B1 genes in a Chinese family with primary angle-closure glaucoma].
Dai X et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
Glaucoma phenotype in a large Swiss pedigree with the myocilin Gly367Arg mutation.
Iliev ME et al.
Eye (london, England), 2008
Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma.
Mengkegale M et al.
Molecular Vision, 2008
Myocilin allele-specific glaucoma phenotype database.
Hewitt AW et al.
Human Mutation, 2008
In vitro and in vivo study on the secretion of the Gly367Arg mutant myocilin protein.
Kanagavalli J et al.
Molecular Vision, 2007
[Investigation on the mutation of MYOC gene in two family pedigrees with primary open-angle glaucoma in Shanxi].
Qin L et al.
Yan Ke Xue Bao = Eye Science, 2007