Cargando…

Identification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing

Hypertrophic cardiomyopathy (HCM), one of the most common forms of myocardial diseases, is the major cause of sudden cardiac death in young adults and competitive athletes. Analyses of gene mutations associated with HCM are valuable for its molecular diagnosis, genetic counseling, and management of...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zhao, Yue, Feng, Yue, Ding, Xiaoxue, Dong, Shuwei, Zhang, Hong, Ding, Jiahuan, Xia, Xueshan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	D.A. Spandidos 2017
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5466385/ https://www.ncbi.nlm.nih.gov/pubmed/28498465 http://dx.doi.org/10.3892/ijmm.2017.2986

Ejemplares similares

Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system
por: ZHAO, YUE, et al.
Publicado: (2016)

Targeted next-generation sequencing of candidate genes reveals novel mutations in patients with dilated cardiomyopathy
por: ZHAO, YUE, et al.
Publicado: (2015)

Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy
por: Zhao, Yue, et al.
Publicado: (2015)

Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing
por: Liu, Xuxia, et al.
Publicado: (2015)

Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy
por: Cecconi, Massimiliano, et al.
Publicado: (2016)

Next-generation sequencing identifies pathogenic and modifier mutations in a consanguineous Chinese family with hypertrophic cardiomyopathy
por: Zhang, Xinlin, et al.
Publicado: (2017)

Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort
por: Wang, Jian, et al.
Publicado: (2017)

Yield of Rare Variants Detected by Targeted Next-Generation Sequencing in a Cohort of Romanian Index Patients with Hypertrophic Cardiomyopathy
por: Micheu, Miruna Mihaela, et al.
Publicado: (2020)

A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort
por: Rubattu, Speranza, et al.
Publicado: (2016)

Targeted next-generation sequencing identification of mutations in patients with disorders of sex development
por: Dong, Yanling, et al.
Publicado: (2016)

Global extracellular volume (ECVglobal) in HCM - the "next generation" test for risk in hypertrophic cardiomyopathy?
por: Sado, Daniel, et al.
Publicado: (2013)

Whole-Exome Sequencing Reveals Mutational Signature of Hypertrophic Cardiomyopathy
por: Wang, Xi-Qin, et al.
Publicado: (2023)

Targeted next-generation sequencing detects novel gene–phenotype associations and expands the mutational spectrum in cardiomyopathies
por: Forleo, Cinzia, et al.
Publicado: (2017)

Genetic mutation of familial dilated cardiomyopathy based on next-generation semiconductor sequencing
por: Lin, Xin-Fu, et al.
Publicado: (2018)

Identification of PKD2 mutations in human preimplantation embryos in vitro using a combination of targeted next-generation sequencing and targeted haplotyping
por: Chen, Song-Chang, et al.
Publicado: (2016)

Identification of novel targetable mutations in metastatic anorectal melanoma by next-generation sequencing
por: Cai, Emily D., et al.
Publicado: (2017)

MT-CYB mutations in hypertrophic cardiomyopathy
por: Hagen, Christian M, et al.
Publicado: (2013)

MT-CYB mutations in hypertrophic cardiomyopathy
por: Hagen, Christian M, et al.
Publicado: (2013)

Hypertrophic cardiomyopathy: Mutations to mechanisms to therapies
por: Kawana, Masataka, et al.
Publicado: (2022)

Identification of Intestinal Microbial Community in Gallstone Patients with Metagenomic Next-Generation Sequencing
por: Ding, Li, et al.
Publicado: (2023)

Identification and analysis of key hypoxia- and immune-related genes in hypertrophic cardiomyopathy
por: Yu, Haozhen, et al.
Publicado: (2023)

Rapid molecular genetic diagnosis of hypertrophic cardiomyopathy by semiconductor sequencing
por: Li, Zongzhe, et al.
Publicado: (2014)

Application of Long-Read Nanopore Sequencing to the Search for Mutations in Hypertrophic Cardiomyopathy
por: Salakhov, Ramil R., et al.
Publicado: (2022)

Spectrum of gene mutations identified by targeted next‐generation sequencing in Chinese leukemia patients
por: Yao, Hongxia, et al.
Publicado: (2020)

Identification of key proteins and lncRNAs in hypertrophic cardiomyopathy by integrated network analysis
por: Hu, Xiaofeng, et al.
Publicado: (2018)

Identification of established arrhythmogenic right ventricular cardiomyopathy mutation in a patient with the contrasting phenotype of hypertrophic cardiomyopathy
por: Bainbridge, Matthew Neil, et al.
Publicado: (2017)

Dysfunctional Network and Mutation Genes of Hypertrophic Cardiomyopathy
por: Cui, Yunwen, et al.
Publicado: (2022)

Erratum: Hypertrophic cardiomyopathy: Mutations to mechanisms to therapies
por: Frontiers Production Office,
Publicado: (2022)

Genetic analysis using targeted next-generation sequencing of sporadic Chinese patients with idiopathic dilated cardiomyopathy
por: Li, Mingmin, et al.
Publicado: (2021)

Exosomes in Diabetic Cardiomyopathy: The Next-Generation Therapeutic Targets?
por: Sahoo, Susmita, et al.
Publicado: (2016)

Identification of Toxic Proteins Encoded by Mycobacteriophage TM4 Using a Next-Generation Sequencing-Based Method
por: Wang, Chun-Liang, et al.
Publicado: (2023)

Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing
por: Luo, Sushan, et al.
Publicado: (2019)

Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing
por: Lu, Cong, et al.
Publicado: (2016)

Targeted next-generation sequencing for routine clinical screening of mutations
por: Weaver, Jamie MJ, et al.
Publicado: (2011)

Next generation diagnostics on cardiomyopathy
por: Blouin, Jean-Louis, et al.
Publicado: (2014)

Hypertrophic cardiomyopathy
por: Antunes, Murillo de Oliveira, et al.
Publicado: (2020)

Hypertrophic Cardiomyopathy
por: Butt, Asra K., et al.
Publicado: (2023)

Targeted next-generation sequencing extends the phenotypic and mutational spectrums for EYS mutations
por: Gu, Shun, et al.
Publicado: (2016)

Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective
por: Chen, Zhao, et al.
Publicado: (2015)

Hypertrophic Cardiomyopathy: How do Mutations Lead to Disease?
por: Marsiglia, Júlia Daher Carneiro, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_qfj50p2iajtij65gu0q5vf68me