Cargando…

A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family

BACKGROUND: The major intrinsic protein gene (MIP), also known as MIP26 or AQP0, is a member of the water-transporting aquaporin family, which plays a critical role in the maintenance of lifelong lens transparency. To date, several mutations in MIP (OMIM 154050) have been linked to hereditary catara...

Descripción completa

Detalles Bibliográficos
Autores principales:	Yu, Yibo, Yu, Yinhui, Chen, Peiqing, Li, Jinyu, Zhu, Yanan, Zhai, Yi, Yao, Ke
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3890554/ https://www.ncbi.nlm.nih.gov/pubmed/24405844 http://dx.doi.org/10.1186/1471-2350-15-6

Ejemplares similares

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

Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts
por: Yu, Yinhui, 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 Nonsense Mutation of γD-crystallin Associated with Congenital Nuclear and Posterior Polar Cataract in a Chinese Family
por: Zhai, Yi, et al.
Publicado: (2014)

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

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

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

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

A Novel GJA8 Mutation (p.V44A) Causing Autosomal Dominant Congenital Cataract
por: Zhu, Yanan, et al.
Publicado: (2014)

A recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease in a Chinese family
por: Yang, Guoxing, et al.
Publicado: (2011)

Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype–Phenotype Correlations in 27 Chinese Han Families
por: Zhai, Yi, et al.
Publicado: (2017)

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

Correction: A Novel GJA8 Mutation (p.V44A) Causing Autosomal Dominant Congenital Cataract
por: Zhu, Yanan, et al.
Publicado: (2015)

PITX3 mutations associated with autosomal dominant congenital cataract in the Chinese population
por: Wu, Zehua, et al.
Publicado: (2019)

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)

Novel mutation of GJA8 in autosomal dominant congenital cataracts
por: Ding, Ning, et al.
Publicado: (2020)

A novel mutation in γD-crystallin associated with autosomal dominant congenital cataract in a Chinese family
por: Wang, Li, et al.
Publicado: (2011)

A recurrent mutation in CRYGD is associated with autosomal dominant congenital coralliform cataract in two unrelated Chinese families
por: Yang, Guoxing, et al.
Publicado: (2011)

A novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract
por: Li, Jinyu, et al.
Publicado: (2013)

Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYβA3/A1
por: Yu, Yibo, et al.
Publicado: (2012)

A Novel CRYGD Mutation (p.Trp43Arg) Causing Autosomal Dominant Congenital Cataract in a Chinese Family
por: Wang, Binbin, et al.
Publicado: (2011)

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

Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families
por: Micheal, Shazia, et al.
Publicado: (2018)

Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families
por: Santana, Alessandro, et al.
Publicado: (2009)

A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family
por: Yang, Guoxing, et al.
Publicado: (2011)

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

Identification and Functional Analysis of a Novel MIP Gene Mutation Associated with Congenital Cataract in a Chinese Family
por: Shentu, Xingchao, et al.
Publicado: (2015)

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)

A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family
por: Wang, Kaijie, et al.
Publicado: (2009)

A Novel Mutation in CRYGC Mutation Associated with Autosomal Dominant Congenital Cataracts and Microcornea
por: Zhou, Zhenbao, et al.
Publicado: (2021)

Identification of a Missense Mutation in GJA8 Gene in an Iranian Family with Autosomal Dominant Congenital Cataract
por: Asghari, Mahla, et al.
Publicado: (2023)

A novel mutation in CRYAA is associated with autosomal dominant suture cataracts in a Chinese family
por: Su, Dongmei, et al.
Publicado: (2012)

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 nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree
por: Guo, Yuanyuan, et al.
Publicado: (2012)

A novel insertional mutation in the connexin 46 (gap junction alpha 3) gene associated with autosomal dominant congenital cataract in a Chinese family
por: Zhou, Dingan, et al.
Publicado: (2013)

A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract
por: Yang, Juhua, et al.
Publicado: (2008)

Identification and Functional Analysis of GJA8 Mutation in a Chinese Family with Autosomal Dominant Perinuclear Cataracts
por: Su, Dongmei, et al.
Publicado: (2013)

A Novel HSF4 Gene Mutation Causes Autosomal-Dominant Cataracts in a Chinese Family
por: Lv, Huibin, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_qa6q56q8jt8m8p8nrc3rbod6dg