A de novo mutation of SMYD1 (p.F272L) is responsible for hypertrophic cardiomyopathy in a Chinese patient
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Title
A de novo mutation of SMYD1 (p.F272L) is responsible for hypertrophic cardiomyopathy in a Chinese patient
Authors
Keywords
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Journal
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
Volume -, Issue -, Pages -
Publisher
Walter de Gruyter GmbH
Online
2018-09-06
DOI
10.1515/cclm-2018-0578
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Related references
Note: Only part of the references are listed.- The chromatin-binding protein Smyd1 restricts adult mammalian heart growth
- (2016) Sarah Franklin et al. AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
- Defective myogenesis in the absence of the muscle-specific lysine methyltransferase SMYD1
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- Mouse myofibers lacking the SMYD1 methyltransferase are susceptible to atrophy, internalization of nuclei and myofibrillar disarray
- (2016) M. David Stewart et al. Disease Models & Mechanisms
- Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy
- (2016) Michael A. Burke et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Smyd1 Facilitates Heart Development by Antagonizing Oxidative and ER Stress Responses
- (2015) Tara L. Rasmussen et al. PLoS One
- Hypertrophic Cardiomyopathy
- (2014) Barry J. Maron et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- MutationTaster2: mutation prediction for the deep-sequencing age
- (2014) Jana Marie Schwarz et al. NATURE METHODS
- The Genotype-Tissue Expression (GTEx) project
- (2013) John Lonsdale et al. NATURE GENETICS
- Hypertrophic cardiomyopathy
- (2012) Barry J Maron et al. LANCET
- The myosin-interacting protein SMYD1 is essential for sarcomere organization
- (2011) S. Just et al. JOURNAL OF CELL SCIENCE
- The variations of BOP gene in hypertrophic cardiomyopathy
- (2010) Neslihan Abaci et al. Anadolu Kardiyoloji Dergisi-The Anatolian Journal of Cardiology
- ToppCluster: a multiple gene list feature analyzer for comparative enrichment clustering and network-based dissection of biological systems
- (2010) V. Kaimal et al. NUCLEIC ACIDS RESEARCH
- skNAC, a Smyd1-interacting transcription factor, is involved in cardiac development and skeletal muscle growth and regeneration
- (2010) C. Y. Park et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- SMYD1, the myogenic activator, is a direct target of serum response factor and myogenin
- (2009) D. Li et al. NUCLEIC ACIDS RESEARCH
- Systematic identification of cell cycle-dependent yeast nucleocytoplasmic shuttling proteins by prediction of composite motifs
- (2009) S. Kosugi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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