Identification of a novel missense mutation in the TPM1 gene via exome sequencing in a Chinese family with dilated cardiomyopathy
Published 2022 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Identification of a novel missense mutation in the TPM1 gene via exome sequencing in a Chinese family with dilated cardiomyopathy
Authors
Keywords
-
Journal
MEDICINE
Volume 101, Issue 2, Pages e28551
Publisher
Ovid Technologies (Wolters Kluwer Health)
Online
2022-01-14
DOI
10.1097/md.0000000000028551
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Diagnosis and Risk Prediction of Dilated Cardiomyopathy in the Era of Big Data and Genomics
- (2021) Arjan Sammani et al. Journal of Clinical Medicine
- Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes
- (2020) Maria Franaszczyk et al. Journal of Clinical Medicine
- Identification of a novel mutation of FGFR3 gene in a large Chinese pedigree with hypochondroplasia by next-generation sequencing
- (2019) Guixiang Yao et al. MEDICINE
- Dilated Cardiomyopathy ‐ From Epidemiologic to Genetic Phenotypes A Translational Review of Current Literature
- (2019) Daniel Reichart et al. JOURNAL OF INTERNAL MEDICINE
- Tanshinone IIA attenuates high glucose induced human VSMC proliferation and migration through miR-21-5p-mediated tropomyosin 1 downregulation
- (2019) Shan Jia et al. ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS
- The Giant Protein Titin’s Role in Cardiomyopathy: Genetic, Transcriptional, and Post-translational Modifications of TTN and Their Contribution to Cardiac Disease
- (2019) Charles A. Tharp et al. Frontiers in Physiology
- Identification and Functional Characterization of an ISL1 Mutation Predisposing to Dilated Cardiomyopathy
- (2018) Ying-Jia Xu et al. Journal of Cardiovascular Translational Research
- Evolving concepts in dilated cardiomyopathy
- (2017) Marco Merlo et al. EUROPEAN JOURNAL OF HEART FAILURE
- Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer
- (2017) Marilyn M. Li et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
- (2016) Roddy Walsh et al. GENETICS IN MEDICINE
- A Rapid, High-Quality, Cost-Effective, Comprehensive and Expandable Targeted Next-Generation Sequencing Assay for Inherited Heart DiseasesNovelty and Significance
- (2015) Kitchener D. Wilson et al. CIRCULATION RESEARCH
- Whole exome sequencing identifies a novel EMDmutation in a Chinese family with dilated cardiomyopathy
- (2014) Mingqiu Zhang et al. BMC Medical Genetics
- The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing
- (2014) Trevor J. Pugh et al. GENETICS IN MEDICINE
- Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience
- (2013) Karin Y. van Spaendonck-Zwarts et al. EUROPEAN JOURNAL OF HEART FAILURE
- A novel alpha-tropomyosin mutation associates with dilated and non-compaction cardiomyopathy and diminishes actin binding
- (2012) Judith B.A. van de Meerakker et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
- Genetic Testing for Dilated Cardiomyopathy in Clinical Practice
- (2012) Neal K. Lakdawala et al. JOURNAL OF CARDIAC FAILURE
- Identification of Sequence Variants in Genetic Disease-Causing Genes Using Targeted Next-Generation Sequencing
- (2011) Xiaoming Wei et al. PLoS One
- Coding Sequence Rare Variants Identified in MYBPC3 , MYH6 , TPM1 , TNNC1 , and TNNI3 From 312 Patients With Familial or Idiopathic Dilated Cardiomyopathy
- (2010) Ray E. Hershberger et al. Circulation-Cardiovascular Genetics
- Clinical and genetic issues in dilated cardiomyopathy: A review for genetics professionals
- (2010) Ray E Hershberger et al. GENETICS IN MEDICINE
- Familial Dilated Cardiomyopathy Caused by an Alpha-Tropomyosin Mutation
- (2010) Neal K. Lakdawala et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now