Cargando…

Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population

PURPOSE: This study aimed to investigate the genetic effects underlying non-familial sporadic congenital cataract (SCC). METHODS: We collected DNA samples from 74 patients with SCC and 20 patients with traumatic cataract (TC) in an age-matched group and performed genomic sequencing of 61 lens-relate...

Descripción completa

Detalles Bibliográficos
Autores principales:	Li, Dan, Wang, Siying, Ye, Hongfei, Tang, Yating, Qiu, Xiaodi, Fan, Qi, Rong, Xianfang, Liu, Xin, Chen, Yuhong, Yang, Jin, Lu, Yi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2016
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4896834/ https://www.ncbi.nlm.nih.gov/pubmed/27307692

Ejemplares similares

Analysis of corneal astigmatism and aberration in chinese congenital cataract and developmental cataract patients before cataract surgery
por: Han, Xiaoyan, et al.
Publicado: (2021)

A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract
por: Fan, Qi, et al.
Publicado: (2019)

Association of alpha A-crystallin polymorphisms with susceptibility to nuclear age-related cataract in a Han Chinese population
por: Zhao, Zhennan, et al.
Publicado: (2017)

Effects of histone acetylation on superoxide dismutase 1 gene expression in the pathogenesis of senile cataract
por: Rong, Xianfang, et al.
Publicado: (2016)

The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing
por: Fan, Fan, et al.
Publicado: (2020)

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing
por: Ma, Alan S., et al.
Publicado: (2016)

Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing
por: An, Wenbin, et al.
Publicado: (2015)

Mitochondrial DNA Haplogroups and the Risk of Sporadic Parkinson's Disease in Han Chinese
por: Chen, Ya-Fang, et al.
Publicado: (2015)

Mutational spectrum in a Chinese cohort with congenital cataracts
por: Liu, Hong‐Li, et al.
Publicado: (2023)

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)

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

Long-Term Visual Outcomes of Secondary Intraocular Lens Implantation in Children with Congenital Cataracts
por: Rong, Xianfang, et al.
Publicado: (2015)

Common Variations in BMP4 Confer Genetic Susceptibility to Sporadic Congenital Heart Disease in a Han Chinese Population
por: Qian, Bo, et al.
Publicado: (2014)

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

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

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

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

Clinical Characteristics of Intraocular Lens Dislocation in Chinese Han Populations
por: Fan, Qi, et al.
Publicado: (2020)

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)

Mutational screening of six genes in Chinese patients with congenital cataract and microcornea
por: Sun, Wenmin, et al.
Publicado: (2011)

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

Calpastatin Gene (CAST) Is Not Associated with Late Onset Sporadic Parkinson’s Disease in the Han Chinese Population
por: Zhang, Lan, et al.
Publicado: (2013)

Systematic analysis of genetic variants in Han Chinese patients with sporadic Parkinson’s disease
por: Yuan, Lamei, et al.
Publicado: (2016)

Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract
por: Li, Jingyan, 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)

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

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

Association of CTLA-4 gene polymorphisms with sporadic breast cancer in Chinese Han population
por: Wang, Lihong, et al.
Publicado: (2007)

MAPT as a predisposing gene for sporadic amyotrophic lateral sclerosis in the Chinese Han population
por: Fang, Pu, et al.
Publicado: (2013)

Sporadic Parkinson’s Disease Potential Risk Loci Identified in Han Ancestry of Chinese Mainland
por: Wang, Bo, et al.
Publicado: (2021)

Association of EPHA2 polymorphisms and age-related cortical cataract in a Han Chinese population
por: Tan, Wei, et al.
Publicado: (2011)

Analysis of Mutation Spectra of 28 Pathogenic Genes Associated With Congenital Hypothyroidism in the Chinese Han Population
por: Huang, Miao, et al.
Publicado: (2021)

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

The landscape of somatic mutation in sporadic Chinese colorectal cancer
por: Liu, Zhe, et al.
Publicado: (2018)

Association of OX40L Polymorphisms with Sporadic Breast Cancer in Northeast Chinese Han Population
por: Weiguang, Yuan, et al.
Publicado: (2012)

HLA-DRB1 Alleles Are Associated with the Susceptibility to Sporadic Parkinson’s Disease in Chinese Han Population
por: Sun, Congcong, et al.
Publicado: (2012)

Genetic Variants in GAPDH Confer Susceptibility to Sporadic Parkinson’s Disease in a Chinese Han Population
por: Liu, Ling, et al.
Publicado: (2015)

Risk prediction for sporadic Alzheimer's disease using genetic risk score in the Han Chinese population
por: Xiao, Qianyi, et al.
Publicado: (2015)

Association between ABO blood types and sporadic pancreatic neuroendocrine tumors in the Chinese Han population
por: Ben, Qiwen, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_65e01ntkinn25r60toggbgbq1i