Associated Papers
Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.
Liu J et al.
Science Advances, 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
Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.
Rubino E et al.
Alzheimer's Research & Therapy, 2025
ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.
Enyedi EE et al.
Biomedicines, 2024
Myocilin Mutation N480K Leads to Early Onset Juvenile and Adult-onset Primary Open Angle Glaucoma in a Six Generation Family.
Kader MA et al.
Journal of Glaucoma, 2024
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
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 2023
CYP1B1 and MYOC variants in neonatal-onset versus infantile-onset primary congenital glaucoma.
Kaushik S et al.
The British 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
A Simple Secretion Assay for Assessing New and Existing Myocilin Variants.
Nakahara E et al.
Current Eye Research, 2022
MYOC Gene Sequencing Analysis in Primary Open-Angle Glaucoma Patients from the Centre Region of Portugal.
Silva F et al.
Acta Medica Portuguesa, 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
Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients.
O'Gorman L et al.
Scientific Reports, 2019
Somatic variants of potential clinical significance in the tumors of BRCA phenocopies.
Buckingham L et al.
Hereditary Cancer in Clinical Practice, 2019
Occurrence of MYOC and CYP1B1 variants in juvenile open angle glaucoma Brazilian patients.
Svidnicki PV et al.
Ophthalmic Genetics, 2018
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
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
Molecular analysis of myocilin and optineurin genes in Korean primary glaucoma patients.
Park J et al.
Molecular Medicine Reports, 2016
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome.
Micheal S et al.
Neurogenetics, 2016
Somatic Variations in Cervical Cancers in Indian Patients.
Das P et al.
Plos One, 2016
Identification of a novel MYOC mutation in a Chinese family with primary open-angle glaucoma.
Yang Y et al.
Gene, 2015
A de novo MYOC mutation detected in juvenile open angle glaucoma associated with reduced myocilin protein in aqueous humor.
Kuchtey J et al.
European Journal of Medical Genetics, 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
Prediction of susceptibility to major depression by a model of interactions of multiple functional genetic variants and environmental factors.
Wong ML et al.
Molecular Psychiatry, 2012
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
Myocilin mutations in black South Africans with POAG.
Whigham BT et al.
Molecular Vision, 2011
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
Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma.
Kim HJ et al.
Molecular Vision, 2011
MYOC and FOXC1 gene analysis in primary congenital glaucoma.
Tanwar M et al.
Molecular Vision, 2010
Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG.
McDonald KK et al.
Journal of Human Genetics, 2010
Myocilin mutations are not a major cause of primary congenital glaucoma in Iranian patients.
Elahi E et al.
Journal of Ophthalmic & Vision Research, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 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 novel myocilin mutations in a Chinese family with primary open-angle glaucoma.
Xie X et al.
Molecular Vision, 2008
Myocilin variations and familial glaucoma in Taxiarchis, a small Greek village.
Wirtz MK et al.
Molecular Vision, 2008
Contributions of MYOC and CYP1B1 mutations to JOAG.
Bayat B et al.
Molecular Vision, 2008
Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma.
Lopez-Martinez F et al.
Molecular Vision, 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
A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG).
El-Ashry MF et al.
Journal of Glaucoma, 2007
A genome-wide scan maps a novel juvenile-onset primary open-angle glaucoma locus to 15q.
Wang DY et al.
Investigative Ophthalmology & Visual Science, 2006
SNPs and interaction analyses of noelin 2, myocilin, and optineurin genes in Japanese patients with open-angle glaucoma.
Funayama T et al.
Investigative Ophthalmology & Visual Science, 2006
[Low penetrance of His26Asp mutation in the optineurin gene in a Japanese family with normal-tension glaucoma].
Yasuda N et al.
Nippon Ganka Gakkai Zasshi, 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
[Polymorphisms of myocilin and optineurin in primary open angle glaucoma patients].
Yao HY et al.
Zhonghua Yi Xue Za Zhi, 2006
A genome-wide scan maps a novel juvenile-onset primary open angle glaucoma locus to chromosome 5q.
Pang CP et al.
Molecular Vision, 2006