Associated Papers
Somatic Mutations within Myocilin due to Aging May Be a Potential Risk Factor for Glaucoma.
Sazhnyev Y et al.
Genes, 2024
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
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.
Burdon KP et al.
Human Mutation, 2022
A Simple Secretion Assay for Assessing New and Existing Myocilin Variants.
Nakahara E et al.
Current Eye Research, 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 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
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
Structure and Misfolding of the Flexible Tripartite Coiled-Coil Domain of Glaucoma-Associated Myocilin.
Hill SE et al.
Structure (london, England : 1993), 2017
Identification of a novel MYOC mutation in a Chinese family with primary open-angle glaucoma.
Yang Y et al.
Gene, 2015
Mutation analysis of seven known glaucoma-associated genes in Chinese patients with glaucoma.
Huang X et al.
Investigative Ophthalmology & Visual Science, 2014
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
Identification of mutations in the myocilin (MYOC) gene in Taiwanese patients with juvenile-onset open-angle glaucoma.
Yen YC et al.
Molecular Vision, 2007
Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma.
Wirtz MK et al.
American Journal of Ophthalmology, 2007
[Polymorphisms of myocilin and optineurin in primary open angle glaucoma patients].
Yao HY et al.
Zhonghua Yi Xue Za Zhi, 2006
Differential occurrence of mutations causative of eye diseases in the Chinese population.
Pang CP et al.
Human Mutation, 2002
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