Cargando…

Identification of a Novel GJA8 (Cx50) Point Mutation Causes Human Dominant Congenital Cataracts

Hereditary cataracts are clinically and genetically heterogeneous lens diseases that cause a significant proportion of visual impairment and blindness in children. Human cataracts have been linked with mutations in two genes, GJA3 and GJA8, respectively. To identify the causative mutation in a famil...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ge, Xiang-Lian, Zhang, Yilan, Wu, Yaming, LV, Jineng, Zhang, Wei, Jin, Zi-Bing, Qu, Jia, Gu, Feng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2014
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3927206/ https://www.ncbi.nlm.nih.gov/pubmed/24535056 http://dx.doi.org/10.1038/srep04121

Ejemplares similares

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

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

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)

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

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

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

Mutations of CX46/CX50 and Cataract Development
por: Shi, Yumeng, et al.
Publicado: (2022)

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

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

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)

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

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

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)

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)

Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts
por: Min, Han-Yi, et al.
Publicado: (2016)

Next-generation sequencing for D47N mutation in Cx50 analysis associated with autosomal dominant congenital cataract in a six-generation Chinese family
por: Shen, Chao, et al.
Publicado: (2017)

In silico analysis of non-synonymous single nucleotide polymorphisms (nsSNPs) in the human GJA3 gene associated with congenital cataract
por: Zhang, Mingzhou, et al.
Publicado: (2020)

Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract
por: Jin, Aixia, et al.
Publicado: (2022)

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

Cx43 Isoform GJA1-20k Promotes Microtubule Dependent Mitochondrial Transport
por: Fu, Ying, et al.
Publicado: (2017)

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

Functional Characterization of Novel Atrial Fibrillation-Linked GJA5 (Cx40) Mutants
por: Noureldin, Mahmoud, et al.
Publicado: (2018)

A novel p.F206I mutation in Cx46 associated with autosomal dominant congenital cataract
por: Wang, Kai Jie, et al.
Publicado: (2012)

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

Novel Homozygous Missense Variant in GJA3 Connexin Domain Causing Congenital Nuclear and Cortical Cataracts
por: Hassan, Abdullah Y., et al.
Publicado: (2021)

Genetic variations in GJA3, GJA8, LIM2, and age-related cataract in the Chinese population: a mutation screening study
por: Zhou, Zhou, et al.
Publicado: (2011)

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

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

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

Identification of Three Novel Mutations in the FRMD7 Gene for X-linked Idiopathic Congenital Nystagmus
por: Zhang, Xiao, et al.
Publicado: (2014)

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)

Conformational changes in the human Cx43/GJA1 gap junction channel visualized using cryo-EM
por: Lee, Hyuk-Joon, et al.
Publicado: (2023)

Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts
por: Yu, Yinhui, et al.
Publicado: (2016)

PITX3 mutations associated with autosomal dominant congenital cataract in the Chinese population
por: Wu, Zehua, 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)

Cannot write session to /tmp/vufind_sessions/sess_7vb8j7n0a5i75rq027jen8nkvg