Cargando…

Genetic variations in GJA3, GJA8, LIM2, and age-related cataract in the Chinese population: a mutation screening study

PURPOSE: To investigate the role of genetic variations in three known cataract-associated genes, gap junction protein α3 (GJA3), gap junction protein α8 (GJA8), lens intrinsic membrane protein 2 (LIM2), encoding lens fiber cell membrane proteins in the development of age-related cataracts. METHODS:...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zhou, Zhou, Wang, Binbin, Hu, Shanshan, Zhang, Chunmei, Ma, Xu, Qi, Yanhua
Formato:	Texto
Lenguaje:	English
Publicado:	Molecular Vision 2011
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3049737/ https://www.ncbi.nlm.nih.gov/pubmed/21386927

Ejemplares similares

A novel mutation in GJA8 causing congenital cataract–microcornea syndrome in a Chinese pedigree
por: Hu, Shanshan, et al.
Publicado: (2010)

A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree
por: Ding, Xuchen, et al.
Publicado: (2011)

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)

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)

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

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

A novel GJA8 mutation causing a recessive triangular cataract
por: Schmidt, Werner, et al.
Publicado: (2008)

Cataracts and Microphthalmia Caused by a Gja8 Mutation in Extracellular Loop 2
por: Xia, Chun-hong, et al.
Publicado: (2012)

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

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

Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract
por: Kumar, Manoj, et al.
Publicado: (2011)

Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract
por: Mackay, Donna S, et al.
Publicado: (2014)

A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract
por: Yan, Ming, et al.
Publicado: (2008)

A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin
por: Vanita, Vanita, et al.
Publicado: (2008)

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

Characterization of a Novel Gja8 (Cx50) Mutation in a New Cataract Rat Model
por: Shen, Jiawei, et al.
Publicado: (2023)

Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family
por: Zhang, Xiaohui, et al.
Publicado: (2012)

Molecular diagnosis of autosomal dominant congenital cataract in two families from North India reveals a novel and a known variant in GJA8 and GJA3
por: Vanita, Vanita, et al.
Publicado: (2022)

Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract
por: Wang, Li, et al.
Publicado: (2011)

Identification of a Novel GJA8 (Cx50) Point Mutation Causes Human Dominant Congenital Cataracts
por: Ge, Xiang-Lian, et al.
Publicado: (2014)

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

A novel mutation in GJA3 associated with congenital Coppock-like cataract in a large Chinese family
por: Zhang, Lu, et al.
Publicado: (2012)

CRISPR/Cas9-mediated GJA8 knockout in rabbits recapitulates human congenital cataracts
por: Yuan, Lin, et al.
Publicado: (2016)

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

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

Internal translation of Gja1 (Connexin43) to produce GJA1-20k: Implications for arrhythmia and ischemic-preconditioning
por: Whisenant, Claire C., et al.
Publicado: (2022)

A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene
por: Guleria, Kamlesh, et al.
Publicado: (2007)

Further evidence for P59L mutation in GJA3 associated with autosomal dominant congenital cataract
por: Wang, Li, et al.
Publicado: (2016)

The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation
por: Graw, Jochen, et al.
Publicado: (2009)

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)

GJA1-20k and Mitochondrial Dynamics
por: Shimura, Daisuke, et al.
Publicado: (2022)

CRYAA and GJA8 promote visual development after whisker tactile deprivation
por: Zhang, Shibo, et al.
Publicado: (2023)

Broadening the Mutation Spectrum in GJA8 and CHMP4B: Novel Missense Variants and the Associated Phenotypes in Six Chinese Han Congenital Cataracts Families
por: Wang, Xun, et al.
Publicado: (2021)

Potential of GJA8 gene variants in predicting age-related cataract: A comparison of supervised machine learning methods
por: Zafar, Saba, et al.
Publicado: (2023)

Expression patterns of Phf5a/PHF5A and Gja1/GJA1 in rat and human endometrial cancer
por: Falck, Eva, et al.
Publicado: (2013)

Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms
por: Santhiya, Sathiyavedu T., et al.
Publicado: (2010)

A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13q
por: Bennett, Thomas M., et al.
Publicado: (2011)

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 heterozygous mutation in GJA1 gene in Chinese family with serious erythrokeratodermia variabilis et progressive
por: Guo, Bi-Rong, et al.
Publicado: (2019)

Two novel GJA1 variants in oculodentodigital dysplasia
por: Pace, Nikolai P., et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_bb4hcqcd1k7ana4moglj56997f