Associated Papers
Somatic Mutations within Myocilin due to Aging May Be a Potential Risk Factor for Glaucoma.
Sazhnyev Y et al.
Genes, 2024
Structure‒function‒pathogenicity analysis of C-terminal myocilin missense variants based on experiments and 3D models.
Zhou B et al.
Frontiers in Genetics, 2022
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
A novel MYOC heterozygous mutation identified in a Chinese Uygur pedigree with primary open-angle glaucoma.
Cai SP et al.
Molecular Vision, 2012
Pro370Leu myocilin mutation in a Chinese pedigree with juvenile-onset open angle glaucoma.
Wei YT et al.
Molecular Vision, 2011
[Gene screening as the forewarning measure to predict glaucoma].
Wei YT et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 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
Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma.
Mengkegale M et al.
Molecular Vision, 2008
[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
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
[A preliminary study on gene mutation and its function in a large family (GZ.1 pedigree) with open-angle glaucoma].
Wei YT et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 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
Genetic dissection of myocilin glaucoma.
Gong G et al.
Human Molecular Genetics, 2004
Analysis of myocilin gene mutations in Japanese patients with normal tension glaucoma and primary open-angle glaucoma.
Mabuchi F et al.
Clinical Genetics, 2001
A sequence change (Arg158Gln) in the leucine zipper-like motif region of the MYOC/TIGR protein.
Mabuchi F et al.
Journal of Human Genetics, 2001
[To screen, clone and sequence TIGR gene mutation in Chinese patients with primary open- angle glaucoma].
Zhuo Y et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2000
Novel mutations in the myocilin gene in Japanese glaucoma patients.
Kubota R et al.
Human Mutation, 2000
Gene mutation in patients with primary open-angle glaucoma in a pedigree in China.
Ge J et al.
Chinese Medical Journal, 2000
The analysis of pedigree GZ (Guangzhou). 1 with primary open angle glaucoma.
Zhuo Y et al.
Yan Ke Xue Bao = Eye Science, 2000
Variants of the myocilin gene in Japanese patients with normal-tension glaucoma.
Izumi K et al.
Ophthalmic Research, 0
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