Associated Papers
Analysis of early-onset glaucoma genes in primary congenital glaucoma patients residing in North India identifies an additional case with THBS1 Arg1034Cys.
Somarajan BI et al.
Ophthalmic Genetics, 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
Somatic Mutations within Myocilin due to Aging May Be a Potential Risk Factor for Glaucoma.
Sazhnyev Y et al.
Genes, 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
Variable phenotypic expression of MYOC mutations in a family with inherited pediatric glaucoma.
Mullie GA et al.
Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Genetic heterogeneity of primary open-angle glaucoma in Pakistan.
Yaqoob Shahani M et al.
Saudi Journal of Biological Sciences, 2023
Exploring mito-nuclear genetic factors in Leber's hereditary optic neuropathy: insights from comprehensive profiling of unique cases.
Chermakani P et al.
Excli Journal, 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
Rare eye diseases in India: A concise review of genes and genetics.
Jeyabalan N et al.
Indian Journal of Ophthalmology, 2022
A Simple Secretion Assay for Assessing New and Existing Myocilin Variants.
Nakahara E et al.
Current Eye Research, 2022
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 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
Prevalence of MYOC risk variants for glaucoma in different populations.
Liuska PJ et al.
Acta Ophthalmologica, 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
Updates on the molecular genetics of primary congenital glaucoma (Review).
Ling C et al.
Experimental and Therapeutic Medicine, 2020
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Research progress on human genes involved in the pathogenesis of glaucoma (Review).
Wang HW et al.
Molecular Medicine Reports, 2018
Understanding mutational effects in digenic diseases.
Gazzo A et al.
Nucleic Acids Research, 2017
Genetic variants associated with primary open angle glaucoma in Indian population.
Kumar S et al.
Genomics, 2017
Clinical applications and implications of common and founder mutations in Indian subpopulations.
Ankala A et al.
Human Mutation, 2015
The novel heterozygous Thr377Arg MYOC mutation causes severe Juvenile Open Angle Glaucoma in a large Pakistani family.
Waryah AM et al.
Gene, 2013
Association study of multiple gene polymorphisms with the risk of adult-onset primary open-angle glaucoma in a Mexican population.
Buentello-Volante B et al.
Experimental Eye Research, 2013
Comprehensive analysis of myocilin variants in east Indian POAG patients.
Banerjee D et al.
Molecular Vision, 2012
A novel MYOC heterozygous mutation identified in a Chinese Uygur pedigree with primary open-angle glaucoma.
Cai SP et al.
Molecular Vision, 2012
Genotype/phenotype correlation in primary congenital glaucoma patients from different ethnic groups of the Israeli population.
Geyer O et al.
American Journal of Ophthalmology, 2011
Pro370Leu myocilin mutation in a Chinese pedigree with juvenile-onset open angle glaucoma.
Wei YT 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
MYOC and FOXC1 gene analysis in primary congenital glaucoma.
Tanwar M et al.
Molecular Vision, 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
[Gene screening as the forewarning measure to predict glaucoma].
Wei YT et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2009
The genetics of primary open-angle glaucoma: a review.
Allingham RR et al.
Experimental Eye Research, 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
Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.
Xie X et al.
Molecular Vision, 2008
Contributions of MYOC and CYP1B1 mutations to JOAG.
Bayat B et al.
Molecular Vision, 2008
Myocilin variants in Indian patients with open-angle glaucoma.
Bhattacharjee A et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 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
Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients.
Kumar A et al.
Molecular Vision, 2007
Epistatic interactions: how strong in disease and evolution?
Azevedo L et al.
Trends in Genetics : Tig, 2006
Analysis of MYOC gene mutation in a Chinese glaucoma family with primary open-angle glaucoma and primary congenital glaucoma.
Zhuo YH et al.
Chinese Medical Journal, 2006
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