(Q51590629)

English

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.

scientific article published on 5 August 2016

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scholarly article

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20 March 2020

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 (English)

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27496873%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

dilated cardiomyopathy

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Jolanda van der Velden

14

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20 March 2020

Abdelaziz Beqqali

1

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20 March 2020

Maarten M van den Hoogenhof

4

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20 March 2020

Sebastian Schäfer

6

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20 March 2020

11

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20 March 2020

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Benjamin Meder

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20 March 2020

author name string

Ilse A E Bollen

2

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20 March 2020

Torsten B Rasmussen

3

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20 March 2020

Hanneke W M van Deutekom

5

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20 March 2020

Jan Haas

7

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20 March 2020

Keld E Sørensen

9

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20 March 2020

Ralph J van Oort

10

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20 March 2020

Norbert Hubner

12

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20 March 2020

Esther E Creemers

13

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20 March 2020

Yigal M Pinto

15

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20 March 2020

publication date

5 August 2016

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20 March 2020

number of pages

12

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Cardiovascular Research

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20 March 2020

112

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20 March 2020

1

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20 March 2020

452-463

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20 March 2020

Genetic mutations and mechanisms in dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

Atlas of the clinical genetics of human dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

RNA-binding protein RBM20 represses splicing to orchestrate cardiac pre-mRNA processing

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

Experimentally increasing titin compliance in a novel mouse model attenuates the Frank-Starling mechanism but has a beneficial effect on diastole.

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

Rbm20-deficient cardiogenesis reveals early disruption of RNA processing and sarcomere remodeling establishing a developmental etiology for dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

Insights into alternative splicing of sarcomeric genes in the heart.

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

A rising titan: TTN review and mutation update

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

Altered titin expression, myocardial stiffness, and left ventricular function in patients with dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

Passive stiffness changes caused by upregulation of compliant titin isoforms in human dilated cardiomyopathy hearts

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

Titin isoform variance and length dependence of activation in skinned bovine cardiac muscle.

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

Orphan nuclear receptor Nur77 affects cardiomyocyte calcium homeostasis and adverse cardiac remodelling

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

Amplification efficiency: linking baseline and bias in the analysis of quantitative PCR data

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

Vertical agarose gel electrophoresis and electroblotting of high-molecular-weight proteins

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

Tuning passive mechanics through differential splicing of titin during skeletal muscle development

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

Contractile dysfunction irrespective of the mutant protein in human hypertrophic cardiomyopathy with normal systolic function

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

A method and server for predicting damaging missense mutations

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

Mutation that dramatically alters rat titin isoform expression and cardiomyocyte passive tension

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

Troponin I in the murine myocardium: influence on length-dependent activation and interfilament spacing

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

Rbm20 regulates titin alternative splicing as a splicing repressor

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

The SR protein family of splicing factors: master regulators of gene expression

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

Hypophosphorylation of the Stiff N2B titin isoform raises cardiomyocyte resting tension in failing human myocardium.

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

Modeling structural and functional deficiencies of RBM20 familial dilated cardiomyopathy using human induced pluripotent stem cells

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

Pharmacological Modulation of Calcium Homeostasis in Familial Dilated Cardiomyopathy: An In Vitro Analysis From an RBM20 Patient-Derived iPSC Model

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

Mechanisms of beta adrenoceptor desensitisation in the failing human heart

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

Length-dependent activation is modulated by cardiac troponin I bisphosphorylation at Ser23 and Ser24 but not by Thr143 phosphorylation

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

Effect of protein kinase A on calcium sensitivity of force and its sarcomere length dependence in human cardiomyocytes

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVW192

21 January 2018

Identifiers

10.1093/CVR/CVW192

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20 March 2020

1 reference

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20 March 2020

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