Cargando…

A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family

OBJECTIVE: To investigate a novel insertion variant of CRYGD identified in a Chinese family with nuclear congenital cataract. METHODS: A Chinese family with congenital nuclear cataract was recruited for the mutational screening of candidate genes by direct sequencing. Recombinant N-terminal Myc tagg...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zhuang, Xiaotong, Wang, Lianqing, Song, Zixun, Xiao, Wei
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/PMC4493073/ https://www.ncbi.nlm.nih.gov/pubmed/26147294 http://dx.doi.org/10.1371/journal.pone.0131471

Ejemplares similares

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

Novel human CRYGD rare variant in a Brazilian family with congenital cataract
por: de Figueirêdo, Eugênio Santana, 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)

Case Report: A Novel Mutation in the CRYGD Gene Causing Congenital Cataract Associated with Nystagmus in a Chinese Family
por: Gao, Yunxia, et al.
Publicado: (2022)

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

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

Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene
por: Wang, Kai-Jie, et al.
Publicado: (2023)

Increased hydrophobicity of CRYGD p.(Ala159ProfsTer9): Suspected cause of congenital cataracts in a large Chinese family
por: Lin, Meina, et al.
Publicado: (2020)

Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts
por: Li, Feifeng, et al.
Publicado: (2008)

A novel human CRYGD mutation in a juvenile autosomal dominant cataract
por: Roshan, Mascarenhas, et al.
Publicado: (2010)

Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families
por: Khan, Arif O., et al.
Publicado: (2009)

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

Crystalline cataract caused by a heterozygous missense mutation in γD-crystallin (CRYGD)
por: VanderVeen, Deborah K., et al.
Publicado: (2011)

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

Clinical and genetic findings in patients with congenital cataract and heart diseases
por: Li, Xinru, et al.
Publicado: (2021)

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

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

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

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

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

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

Whole-exome sequencing identification of a recurrent CRYBB2 variant in a four-generation Chinese family with congenital nuclear cataracts
por: Chen, Doudou, et al.
Publicado: (2021)

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)

Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract
por: Yonova-Doing, Ekaterina, et al.
Publicado: (2020)

A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract
por: Yan, Ming, 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 Nonsense Mutation of γD-crystallin Associated with Congenital Nuclear and Posterior Polar Cataract in a Chinese Family
por: Zhai, Yi, et al.
Publicado: (2014)

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)

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

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

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

Clinical characteristics of congenital lamellar cataract and myopia in a Chinese family
por: Liu, Qing, et al.
Publicado: (2020)

Variations in EXD3 caused congenital cataracts in three Chinese families
por: Cao, Lihua, et al.
Publicado: (2022)

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)

A Novel CRYBB2 Silent Variant in Autosomal Dominant Congenital Cataracts (ADCC) in Pakistani families
por: Hussain, Maryam, et al.
Publicado: (2023)

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

Cannot write session to /tmp/vufind_sessions/sess_4v5fq9ko9rgadpn4lfppqc0fcf