A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank–Starling mechanism
出版年份 2016 全文链接
标题
A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank–Starling mechanism
作者
关键词
-
出版物
CARDIOVASCULAR RESEARCH
Volume 112, Issue 1, Pages 452-463
出版商
Oxford University Press (OUP)
发表日期
2016-08-06
DOI
10.1093/cvr/cvw192
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Pharmacological Modulation of Calcium Homeostasis in Familial Dilated Cardiomyopathy: AnIn VitroAnalysis From an RBM20 Patient-Derived iPSC Model
- (2016) SP Wyles et al. CTS-Clinical and Translational Science
- Modeling structural and functional deficiencies ofRBM20familial dilated cardiomyopathy using human induced pluripotent stem cells
- (2015) Saranya P. Wyles et al. HUMAN MOLECULAR GENETICS
- Insights into alternative splicing of sarcomeric genes in the heart
- (2015) Cornelis J. Weeland et al. JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
- Orphan nuclear receptor Nur77 affects cardiomyocyte calcium homeostasis and adverse cardiac remodelling
- (2015) Lejla Medzikovic et al. Scientific Reports
- Length-dependent activation is modulated by cardiac troponin I bisphosphorylation at Ser23 and Ser24 but not by Thr143 phosphorylation
- (2014) Paul J. M. Wijnker et al. AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
- Experimentally Increasing Titin Compliance in a Novel Mouse Model Attenuates the Frank-Starling Mechanism But Has a Beneficial Effect on Diastole
- (2014) Mei Methawasin et al. CIRCULATION
- Atlas of the clinical genetics of human dilated cardiomyopathy
- (2014) Jan Haas et al. EUROPEAN HEART JOURNAL
- Rbm20-deficient cardiogenesis reveals early disruption of RNA processing and sarcomere remodeling establishing a developmental etiology for dilated cardiomyopathy
- (2014) Rosanna Beraldi et al. HUMAN MOLECULAR GENETICS
- A Rising Titan:TTNReview and Mutation Update
- (2014) Claire Chauveau et al. HUMAN MUTATION
- RNA-binding protein RBM20 represses splicing to orchestrate cardiac pre-mRNA processing
- (2014) Henrike Maatz et al. JOURNAL OF CLINICAL INVESTIGATION
- Genetic mutations and mechanisms in dilated cardiomyopathy
- (2013) Elizabeth M. McNally et al. JOURNAL OF CLINICAL INVESTIGATION
- Rbm20 regulates titin alternative splicing as a splicing repressor
- (2013) Shijun Li et al. NUCLEIC ACIDS RESEARCH
- RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing
- (2012) Wei Guo et al. NATURE MEDICINE
- Contractile Dysfunction Irrespective of the Mutant Protein in Human Hypertrophic Cardiomyopathy With Normal Systolic Function
- (2011) Sabine J. van Dijk et al. Circulation-Heart Failure
- Identification of Novel Mutations in RBM20 in Patients with Dilated Cardiomyopathy
- (2010) Duanxiang Li et al. CTS-Clinical and Translational Science
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- Tuning Passive Mechanics through Differential Splicing of Titin during Skeletal Muscle Development
- (2009) Coen A.C. Ottenheijm et al. BIOPHYSICAL JOURNAL
- Hypophosphorylation of the Stiff N2B Titin Isoform Raises Cardiomyocyte Resting Tension in Failing Human Myocardium
- (2009) Attila Borbély et al. CIRCULATION RESEARCH
- Mutations in Ribonucleic Acid Binding Protein Gene Cause Familial Dilated Cardiomyopathy
- (2009) Katharine M. Brauch et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- Amplification efficiency: linking baseline and bias in the analysis of quantitative PCR data
- (2009) J. M. Ruijter et al. NUCLEIC ACIDS RESEARCH
- The SR protein family of splicing factors: master regulators of gene expression
- (2008) Jennifer C. Long et al. BIOCHEMICAL JOURNAL
- Mutation that dramatically alters rat titin isoform expression and cardiomyocyte passive tension
- (2008) Marion L. Greaser et al. JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
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