Cargando…

Three novel variants identified within ECM-related genes in Chinese Han keratoconus patients

As the primary indication for corneal transplantation, the pathogenesis of keratoconus remains elusive. Aiming to identify whether any mutation from extracellular-matrix (ECM)-related genes contributes to the patients with sporadic cases of keratoconus (KC) from Chinese Han population, one hundred a...

Descripción completa

Detalles Bibliográficos
Autores principales:	Xu, Xiayan, Zhang, Xin, Cui, Yilei, Yang, Hao, Ping, Xiyuan, Wu, Jing, Yu, Xiaoning, Jin, Xiuming, Huang, Xiaodan, Shentu, Xingchao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7125089/ https://www.ncbi.nlm.nih.gov/pubmed/32246022 http://dx.doi.org/10.1038/s41598-020-62572-0

Ejemplares similares

Novel Mutations Identified in the Chinese Han Population with Keratoconus by Next-Generation Sequencing
por: Chen, Binbin, et al.
Publicado: (2022)

Identification of seven novel ZNF469 mutations in keratoconus patients in a Han Chinese population
por: Yu, Xiaoning, et al.
Publicado: (2017)

Znf469 Plays a Critical Role in Regulating Synthesis of ECM: A Zebrafish Model of Brittle Cornea Syndrome
por: Bao, Jing, et al.
Publicado: (2023)

Role of Rapamycin and 3-MA in oxidative damage of HLECs caused by two doses of UVB radiation
por: Yang, Hao, et al.
Publicado: (2022)

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

TP53INP2 Contributes to TGF-β2-Induced Autophagy during the Epithelial–Mesenchymal Transition in Posterior Capsular Opacification Development
por: Cui, Yilei, et al.
Publicado: (2022)

Regional differences in the global burden of age-related macular degeneration
por: Xu, Xiayan, et al.
Publicado: (2020)

Glycolysis Aids in Human Lens Epithelial Cells’ Adaptation to Hypoxia
por: Huang, Yuxin, et al.
Publicado: (2023)

Cytoprotective role of humanin in lens epithelial cell oxidative stress-induced injury
por: Yang, Hao, et al.
Publicado: (2020)

Multi-level consistent changes of the ECM pathway identified in a typical keratoconus twin’s family by multi-omics analysis
por: Hao, Xiao-dan, et al.
Publicado: (2020)

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

Coaxial Microincision Cataract Surgery versus Standard Coaxial Small-Incision Cataract Surgery: A Meta-Analysis of Randomized Controlled Trials
por: Shentu, Xingchao, et al.
Publicado: (2016)

Integrated Stress Response and Decreased ECM in Cultured Stromal Cells From Keratoconus Corneas
por: Foster, James W., et al.
Publicado: (2018)

Replication of the Association Between Keratoconus and Polymorphisms in PNPLA2 and MAML2 in a Han Chinese Population
por: Zhang, Jing, et al.
Publicado: (2020)

Matrix-bound nanovesicles within ECM bioscaffolds
por: Huleihel, Luai, et al.
Publicado: (2016)

Fine‐mapping of ZDHHC2 identifies risk variants for schizophrenia in the Han Chinese population
por: Zhang, Han, et al.
Publicado: (2020)

Identifying genetic variants for age of migraine onset in a Han Chinese population in Taiwan
por: Tsai, Chia-Kuang, et al.
Publicado: (2021)

Genome-wide association analysis identifies three new risk loci for gout arthritis in Han Chinese
por: Li, Changgui, et al.
Publicado: (2015)

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)

ECM signals ECM degradation
por: Powell, Kendall
Publicado: (2006)

Genetic Variants at Newly Identified Lipid Loci Are Associated with Coronary Heart Disease in a Chinese Han Population
por: Zhou, Li, et al.
Publicado: (2011)

Evaluating the association between single nucleotide polymorphisms in the stonin 2 (STON2) gene and keratoconus in a Han Chinese population
por: Zhang, Jing, et al.
Publicado: (2021)

Variant of TSHR is Not a Frequent Cause of Congenital Hypothyroidism in Chinese Han Patients
por: Xue, Peng, et al.
Publicado: (2021)

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

A Genome-Wide Association Study Identifies Susceptibility Variants for Type 2 Diabetes in Han Chinese
por: Tsai, Fuu-Jen, et al.
Publicado: (2010)

A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations
por: Zhu, Yanan, et al.
Publicado: (2010)

The Frequency of Genetic Mutations Associated With Behavioral Variant Frontotemporal Dementia in Chinese Han Patients
por: Liu, Li, et al.
Publicado: (2021)

Genetic variants within the cancer susceptibility region 8q24 and ovarian cancer risk in Han Chinese women
por: Han, Jing, et al.
Publicado: (2017)

Ocular dimensions of the Chinese adolescents with keratoconus
por: Jian, Weijun, et al.
Publicado: (2018)

Role of IL-17 Variants in Preeclampsia in Chinese Han Women
por: Wang, Haiyan, et al.
Publicado: (2015)

Variant analysis of 92 Chinese Han families with hearing loss
por: Jin, Xiaohua, et al.
Publicado: (2022)

Association Analysis Between Common Variants of the TRPM1 Gene and Three Mental Disorders in the Han Chinese Population
por: Ma, Chuanchuan, et al.
Publicado: (2020)

Validation of Type 2 Diabetes Risk Variants Identified by Genome-Wide Association Studies in Northern Han Chinese
por: Rao, Ping, et al.
Publicado: (2016)

Targeted sequencing analysis of the adiponectin gene identifies variants associated with obstructive sleep apnoea in Chinese Han population
por: Yang, Yunyun, et al.
Publicado: (2019)

MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome
por: Yu, Rong, et al.
Publicado: (2021)

Fine Mapping of the MHC Region Identifies Novel Variants Associated with HBV-Related Hepatocellular Carcinoma in Han Chinese
por: Mai, Haoming, et al.
Publicado: (2021)

Family-based exome sequencing identifies candidate genes related to keratoconus in Chinese families
por: Xu, Liyan, et al.
Publicado: (2022)

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

The TGFBI R555W mutation induces a new granular corneal dystrophy type I phenotype
por: Zhu, Yanan, et al.
Publicado: (2011)

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)

Cannot write session to /tmp/vufind_sessions/sess_8dnq3j5d3qmb0fd4vfpvae2s5b