Associated Papers
Somatic Mutations within Myocilin due to Aging May Be a Potential Risk Factor for Glaucoma.
Sazhnyev Y et al.
Genes, 2024
Identification of OPTN p.(Asn51Thr): A novel pathogenic variant in primary open-angle glaucoma.
Shiga Y et al.
Genetics in Medicine Open, 2024
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
A Simple Secretion Assay for Assessing New and Existing Myocilin Variants.
Nakahara E et al.
Current Eye Research, 2022
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
Candidate genes involved in the susceptibility of primary open angle glaucoma.
Kumar S et al.
Gene, 2016
Myocilin polymorphisms and primary open-angle glaucoma: a systematic review and meta-analysis.
Cheng JW et al.
Plos One, 2012
[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
Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma.
Kim HJ et al.
Molecular Vision, 2011
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
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
Molecular analysis of the myocilin gene in Chinese subjects with chronic primary-angle closure glaucoma.
Aung T et al.
Investigative Ophthalmology & Visual Science, 2005
Novel MYOC gene mutation, Phe369Leu, in Japanese patients with primary open-angle glaucoma detected by denaturing high-performance liquid chromatography.
Ishikawa K et al.
Journal of Glaucoma, 2004
Polymorphisms in the myocilin promoter unrelated to the risk and severity of primary open-angle glaucoma.
Fan BJ et al.
Journal of Glaucoma, 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
TIGR/MYOC gene sequence alterations in individuals with and without primary open-angle glaucoma.
Pang CP et al.
Investigative Ophthalmology & Visual Science, 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
Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma.
Lam DS et al.
Investigative Ophthalmology & Visual Science, 2000
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.
Fingert JH et al.
Human Molecular Genetics, 1999
Systemic Genotype-Phenotype Analysis of MYOC Variants Based on Exome Sequencing and Literature Review.
Li X et al.
Asia-pacific Journal of Ophthalmology (philadelphia, Pa.), 0