Associated Papers
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
Protein misfolding and mitochondrial dysfunction in glaucoma.
Venkatesan A et al.
Frontiers in Cell and Developmental Biology, 2025
Somatic Mutations within Myocilin due to Aging May Be a Potential Risk Factor for Glaucoma.
Sazhnyev Y et al.
Genes, 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
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
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.
Burdon KP et al.
Human Mutation, 2022
Assessment of Rare Genetic Variants to Identify Candidate Modifier Genes Underlying Neurological Manifestations in Neurofibromatosis 1 Patients.
Tang J et al.
Genes, 2022
Penetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis.
Xie JJ et al.
Ophthalmic Genetics, 2022
Prevalence of MYOC risk variants for glaucoma in different populations.
Liuska PJ et al.
Acta Ophthalmologica, 2021
Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.
Scelsi HF et al.
Human Mutation, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 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
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.
Wang P et al.
Translational Vision Science & Technology, 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
The inheritance of juvenile onset primary open angle glaucoma.
Gupta V et al.
Clinical Genetics, 2017
Molecular analysis of myocilin and optineurin genes in Korean primary glaucoma patients.
Park J et al.
Molecular Medicine Reports, 2016
Identification of a novel MYOC mutation in a Chinese family with primary open-angle glaucoma.
Yang Y et al.
Gene, 2015
Ser341Pro MYOC gene mutation in a family with primary open-angle glaucoma.
Wang F et al.
International Journal of Molecular Medicine, 2015
Structural basis for misfolding in myocilin-associated glaucoma.
Donegan RK et al.
Human Molecular Genetics, 2015
Anticipation, anti-glaucoma drug treatment response and phenotype of a Chinese family with glaucoma caused by the Pro370Leu myocilin mutation.
Li CM et al.
International Journal of Ophthalmology, 2014
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
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Single nucleotide polymorphism of MYOC affected the severity of primary open angle glaucoma.
Zhou XM et al.
International Journal of Ophthalmology, 2013
Comprehensive analysis of myocilin variants in east Indian POAG patients.
Banerjee D et al.
Molecular Vision, 2012
Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma.
Liu W et al.
Molecular Vision, 2012
Myocilin polymorphisms and primary open-angle glaucoma: a systematic review and meta-analysis.
Cheng JW et al.
Plos One, 2012
Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma.
Young TK et al.
Molecular Vision, 2012
Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma.
Kim HJ et al.
Molecular Vision, 2011
Myocilin mutations among POAG patients from two populations of Tamil Nadu, South India, a comparative analysis.
Rose R et al.
Molecular Vision, 2011
Identification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma.
Zhao X et al.
Molecular Vision, 2010
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
Different WDR36 mutation pattern in Chinese patients with primary open-angle glaucoma.
Fan BJ et al.
Molecular Vision, 2009
Myocilin variants in Indian patients with open-angle glaucoma.
Bhattacharjee A et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2007
Functional analysis of the glaucoma-causing TIGR/myocilin protein: integrity of amino-terminal coiled-coil regions and olfactomedin homology domain is essential for extracellular adhesion and secretion.
Gobeil S et al.
Experimental Eye Research, 2006
Gene mapping for primary open angle glaucoma.
Fan BJ et al.
Clinical Biochemistry, 2006
Molecular analysis of the myocilin gene in Chinese subjects with chronic primary-angle closure glaucoma.
Aung T et al.
Investigative Ophthalmology & Visual Science, 2005
Polymorphisms in the myocilin promoter unrelated to the risk and severity of primary open-angle glaucoma.
Fan BJ et al.
Journal of Glaucoma, 2004
Genetic and environmental risk factors for primary open-angle glaucoma.
Fan BJ et al.
Chinese Medical Journal, 2004
Genetic dissection of myocilin glaucoma.
Gong G et al.
Human Molecular Genetics, 2004
[Single nucleotide polymorphisms of the myocilin gene in primary open-angle glaucoma patients].
Fan BJ et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004
Different optineurin mutation pattern in primary open-angle glaucoma.
Leung YF et al.
Investigative Ophthalmology & Visual Science, 2003
Expression and characterization of the olfactomedin domain of human myocilin.
Nagy I et al.
Biochemical and Biophysical Research Communications, 2003
[Case control study on the risk factors of primary open angle glaucoma in China].
Wang N et al.
Zhonghua Liu Xing Bing Xue Za Zhi = Zhonghua Liuxingbingxue Zazhi, 2002
[Study on single nucleotide polymorphism of TIGR gene in primary open-angle glaucoma patients].
Fan B et al.
Zhonghua Yi Xue Za Zhi, 2002
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
Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma.
Lam DS et al.
Investigative Ophthalmology & Visual Science, 2000