Cargando…

Identification and Functional Analysis of a Novel MIP Gene Mutation Associated with Congenital Cataract in a Chinese Family

Congenital cataracts are major cause of visual impairment and blindness in children and previous studies have shown about 1/3 of non-syndromic congenital cataracts are inherited. Major intrinsic protein of the lens (MIP), also known as AQP0, plays a critical role in transparency and development of t...

Descripción completa

Detalles Bibliográficos
Autores principales:	Shentu, Xingchao, Miao, Qi, Tang, Xiajing, Yin, Houfa, Zhao, Yingying
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2015
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422749/ https://www.ncbi.nlm.nih.gov/pubmed/25946197 http://dx.doi.org/10.1371/journal.pone.0126679

Ejemplares similares

Identification of a novel splice-site mutation in MIP in a Chinese congenital cataract family
por: Jiang, Jin, et al.
Publicado: (2009)

A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family
por: Wang, Wei, et al.
Publicado: (2010)

A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family
por: Wang, Kai Jie, et al.
Publicado: (2011)

Identification of a novel missense mutation of MIP in a Chinese family with congenital cataracts by target region capture sequencing
por: Jiang, Bo, et al.
Publicado: (2017)

A recurrent PAX6 mutation is associated with aniridia and congenital progressive cataract in a Chinese family
por: Jin, Chongfei, et al.
Publicado: (2012)

A Novel MIP Gene Mutation Analysis in a Chinese Family Affected with Congenital Progressive Punctate Cataract
por: Ding, Xuchen, et al.
Publicado: (2014)

A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family
por: Yu, Yibo, et al.
Publicado: (2014)

A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family
por: Yao, Ke, et al.
Publicado: (2008)

Coaxial Microincision Cataract Surgery versus Standard Coaxial Small-Incision Cataract Surgery: A Meta-Analysis of Randomized Controlled Trials
por: Shentu, Xingchao, et al.
Publicado: (2016)

Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family
por: Yao, Ke, et al.
Publicado: (2011)

A novel mutation in the MIP gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family
por: Yang, Guoxing, et al.
Publicado: (2011)

A Novel Nonsense Mutation in the MIP Gene Linked to Congenital Posterior Polar Cataracts in a Chinese Family
por: Song, Zixun, et al.
Publicado: (2015)

Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis
por: Long, Xigui, et al.
Publicado: (2018)

The impact of GJA8 SNPs on susceptibility to age-related cataract
por: Yu, Xiaoning, et al.
Publicado: (2018)

Anterior Umbilication of Lens in a Family with Congenital Cataracts Associated with a Missense Mutation of MIP Gene
por: Cheng, Zhixing, et al.
Publicado: (2022)

A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations
por: Zhu, Yanan, et al.
Publicado: (2010)

Identification of seven novel ZNF469 mutations in keratoconus patients in a Han Chinese population
por: Yu, Xiaoning, et al.
Publicado: (2017)

Novel mutations in CRYGD are associated with congenital cataracts in Chinese families
por: Yang, Guoxing, et al.
Publicado: (2016)

Novel mutations in CRYGC are associated with congenital cataracts in Chinese families
por: Zhong, Zilin, et al.
Publicado: (2017)

Novel mutations in HSF4 cause congenital cataracts in Chinese families
por: Cao, Zongfu, et al.
Publicado: (2018)

Rapamycin relieves the cataract caused by ablation of Gja8b through stimulating autophagy in zebrafish
por: Ping, Xiyuan, et al.
Publicado: (2021)

Mutation analysis of 12 genes in Chinese families with congenital cataracts
por: Sun, Wenmin, et al.
Publicado: (2011)

Mutation screening of crystallin genes in Chinese families with congenital cataracts
por: Zhuang, Jianfu, et al.
Publicado: (2019)

Major intrinsic protein (MIP) polymorphism is associated with age-related cataract in Chinese
por: Zhou, Zhou, et al.
Publicado: (2011)

A novel missense mutation of Mip causes semi-dominant cataracts in the Nat mouse
por: Takahashi, Gou, et al.
Publicado: (2017)

Identification and characterization of six β‐crystallin gene mutations associated with congenital cataract in Chinese families
por: Yu, Yinhui, et al.
Publicado: (2021)

Mutation profiles of congenital cataract genes in 21 northern Chinese families
por: Zhang, Xiao Hui, et al.
Publicado: (2018)

A novel PAX6 mutation in a large Chinese family with aniridia and congenital cataract
por: Cai, Fucheng, et al.
Publicado: (2010)

A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family
por: Song, Zixun, et al.
Publicado: (2018)

Novel Mutations of PAX6 and WFS1 Associated With Congenital Cataract in a Chinese Family
por: Sheng, Dan, et al.
Publicado: (2023)

Novel Mutations Identified in the Chinese Han Population with Keratoconus by Next-Generation Sequencing
por: Chen, Binbin, et al.
Publicado: (2022)

A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family
por: Zhou, Yu, et al.
Publicado: (2016)

Identification of a novel GJA3 mutation in a large Chinese family with congenital cataract using targeted exome sequencing
por: Yao, Yihua, et al.
Publicado: (2017)

Identification and Functional Characterization of Mutation in FYCO1 in Families with Congenital Cataract
por: Ullah, Muhammad Ikram, et al.
Publicado: (2023)

Regional differences in the global burden of age-related macular degeneration
por: Xu, Xiayan, et al.
Publicado: (2020)

Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP
por: Xiao, Xueshan, et al.
Publicado: (2011)

A novel mutation in CRYAB associated with autosomal dominant congenital nuclear cataract in a Chinese family
por: Chen, Qiang, et al.
Publicado: (2009)

Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing
por: Li, Shan, et al.
Publicado: (2019)

Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3)
por: Zhou, Zhou, et al.
Publicado: (2010)

Cytoprotective role of humanin in lens epithelial cell oxidative stress-induced injury
por: Yang, Hao, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_4ric6gqug7mlcv1kn7f4ndhj00