MYOCILIN

作品数:12被引量:24H指数:3
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相关领域:医药卫生更多>>
相关作者:葛坚李富华庞玉英单晓艳田强更多>>
相关机构:中山大学天津医科大学总医院天津市眼科医院福建医科大学更多>>
相关期刊:《International Journal of Ophthalmology(English edition)》《Chinese Medical Journal》《Open Journal of Ophthalmology》《眼科》更多>>
相关基金:国家自然科学基金卫生部临床学科重点项目广东省自然科学基金天津市自然科学基金更多>>
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Prevalence of Myocilin Gene Mutation in Adult-Onset Primary Open Angle Glaucoma and Non-Glaucoma Subjects Who Are Indigenes of Rivers State, Nigeria
《Open Journal of Ophthalmology》2023年第1期91-105,共15页Azubuike Alfred Onua Chinyere Nnenne Pedro-Egbe 
Background: Glaucoma is the leading cause of irreversible blindness incapacitating over 80 million people worldwide. Several pathogenetic mechanisms have been postulated to explain the optic nerve damage that occur in...
关键词:PREVALENCE Myocilin Gene Mutation Adult-Onset Primary Open Angle Glaucoma Rivers State Indigenes 
Myocilin Asn 450 Tyr突变促进人原代小梁网细胞中细胞外基质蛋白的表达及意义被引量:1
《眼科》2019年第5期374-380,共7页闫雪静 武珅 刘谦 张敬学 
国家重点研发计划(2017YFA0104100);首都医科大学附属北京同仁医院科研种子基金资助项目(2018-YJJ-ZZL-037)
目的研究小梁网糖皮质激素诱导反应蛋白基因Myocilin N450Y突变(c.A1348T: p.N450Y, Myoc-N450Y)对人原代小梁网细胞(HTMC)细胞外基质(ECM)蛋白相关基因表达的影响及其参与青光眼发生发展的机制。设计实验研究。研究对象人原代小梁网细...
关键词:MYOCILIN 青光眼 人原代小梁网细胞 细胞外基质 
AB024.Phenotypic dissection of myocilin(MYOC)-induced glaucoma reveals that the modifier of glaucoma 1(MOG1)locus encodes a gene which prevents ocular hypertension
《Annals of Eye Science》2019年第1期199-199,共1页Vincent Raymond Pascal Belleau Rose Arseneault Jean-Louis Anctil Gilles Côté Marcel Amyot Patrick Laplante Laurent Lamalice Stéphane Dubois Fahed Elian Michael A.Walter Québec Glaucoma Network 
Background:Pathogenic mechanisms leading to open-angle glaucoma(OAG)are genetically complex.They involve neuroinflammation,elevation of intra-ocular pressures(IOP)and optic nerve hypersensitivity to cellular stresses....
关键词:BLINDNESS GLAUCOMA genetics MODIFIER MYOCILIN 
Identification of Mutations in Myocilin and Beta-1,4-galactosyltransferase 3 Genes in a Chinese Family with Primary Open-angle Glaucoma被引量:2
《Chinese Medical Journal》2016年第23期2810-2815,共6页Rong-Feng Liao Zi-Lin Zhong Min-Jie Ye Li-Yun Han Dong-Qing Ye Jian-Jun Chen 
Background: Glaucoma is a major cause of irreversible blindness worldwide. There is evidence showing that a subset of the disease is genetically determined. In this study, we screened for mutations in chromosome lq-l...
关键词:Beta-1 4-galactosyltransferase 3 Genetic Testing GLAUCOMA MYOCILIN Primary Open-angle Glaucoma 
Idebenone Maintains Survival of Mutant Myocilin Cells by Inhibiting Apoptosis
《Chinese Medical Journal》2016年第16期2001-2004,共4页Yue Guan Juan Li Tao Zhan Jian-Wen Wang Jian-Bo Yu Lan Yang 
The work was supported by a grant from Project of Science Foundation of Mudanjiang (No. G2012s0028).
INTRODUCTION Glaucoma is a chronic progressive neurodegenerative disease and exhibits heterogeneity, polygenic inheritance, and incomplete penetrance. Primary open-angle glaucoma (POAG) is the most common form of gl...
关键词:APOPTOSIS CHOP GLAUCOMA ldebenone MYOCILIN 
Anticipation,anti-glaucoma drug treatment response and phenotype of a Chinese family with glaucoma caused by the Pro370Leu myocilin mutation被引量:3
《International Journal of Ophthalmology(English edition)》2014年第1期44-50,共7页Chun-Mei Li Yue-Hong Zhang Rong-Hua Ye Chang-Xian Yi Yi-Min Zhong Dan Cao Xing Liu 
Medical Scientific Research Foundation of Guangdong Province(No.A2013215)
AIM: To describe the anticipation and anti-glaucoma drugs response of a Chinese family with juvenile-onset open angle glaucoma(JOAG) caused by the Pro370Leu myocilin(MYOC) mutation. ·METHODS: Fifteen members of a thr...
关键词:PHENOTYPE ANTICIPATION anti-glaucoma drugs MYOCILIN 
Single nucleotide polymorphism of MYOC affected the severity of primary open angle glaucoma被引量:2
《International Journal of Ophthalmology(English edition)》2013年第3期264-268,共5页Xiao-Min Zhou Yan Yin Ning Fan Hong-Bo Cheng Xiao-Hong Li Yun Wang Wen-Han Yu Su-Ping Cai Xu-Yang Liu 
National Nature Science Foundation of China (No.81170851)
AIM: To detect the mutations in two candidate genes, myocilin (MYOC ) and cytochrome P450 1B1 (CYP1B1 ), in a Chinese family with primary open angle glaucoma (POAG). ·METHODS:Thefamilywascomposedofthreemembers, the p...
关键词:primary open angle glaucoma MYOCILIN MUTATION D384N T353I 
TGF—β2及Myocilin蛋白在原发性开角型青光眼的研究进展被引量:3
《中国实用眼科杂志》2011年第8期747-750,共4页陈婉珠 吴瑜瑜 
福建省自然科学基金(201001148)
转化生长因子-β2(transforming growth factor—β2,TGF—β2)是参与原发性开角型青光眼(primary open—angle glaucoma,POAG)发病机制的一个重要细胞因子,TGF—β2对小梁网的作用机制成为近年来研究的一个热点。Myoeilin是第...
关键词:转化生长因子-Β2 MYOCILIN 原发性开角型青光眼 
原发性开角型青光眼家系一新的myocilin基因突变被引量:9
《中华医学遗传学杂志》2007年第6期629-634,共6页田强 李富华 赵堪兴 王立 单晓艳 庞玉英 李袆馨 吴梅筠 邱枫 李海云 
天津自然科学基金(023608911)
目的探讨一个中国人原发性开角型青光眼(primary open angle glaucoma,POAG)家系的my-ocilin基因缺陷。方法对一个5代POAG大家系进行全面的临床检查后,用聚合酶链反应扩增家系成员myocilin基因的所有外显子以及相邻部分内含子,对其产...
关键词:开角型青光眼 myocilin基因 基因突变 
青年型开角型青光眼的中国家系的新型Myocilin基因突变被引量:5
《美国医学会眼科杂志(中文版)》2006年第4期256-256,共1页Bao Jian Fan Dexter Y. L Leung Dan Yi Wang Stéphane Vincent Raymond Pancy O. S. Tam Dennis S. C. Lam Chi Pui Pang 王婷(译) 
目的:探讨某中国家系青年型开角型青光眼(JOAG)的致病基因。 方法:在一个青光眼家系中,三代人中患JOAG或高眼压。我们筛查了6位家族成员Myocilin(MYOC)和 optineurin(OPTN)的突变和apolipoprotein E的多态性,2位患有JOAG,2...
关键词:开角型青光眼 基因突变 青年型 中国 正常对照组 COS-7 致病基因 
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