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

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