Literature DB >> 17977476

Mutations in the cardiac Troponin C gene are a cause of idiopathic dilated cardiomyopathy in childhood.

Juan Pablo Kaski1, Michael Burch, Perry M Elliott.   

Abstract

The role of familial disease in childhood dilated cardiomyopathy is unknown. A novel mutation in the cardiac Troponin C gene has been identified recently in a family with dilated cardiomyopathy. Here we present a subsequent case of dilated cardiomyopathy occurring in a child from the same family, and emphasise the implications for future screening and counselling.

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Year:  2007        PMID: 17977476     DOI: 10.1017/S1047951107001291

Source DB:  PubMed          Journal:  Cardiol Young        ISSN: 1047-9511            Impact factor:   1.093


  11 in total

1.  Functional characterization of TNNC1 rare variants identified in dilated cardiomyopathy.

Authors:  Jose Renato Pinto; Jill D Siegfried; Michelle S Parvatiyar; Duanxiang Li; Nadine Norton; Michelle A Jones; Jingsheng Liang; James D Potter; Ray E Hershberger
Journal:  J Biol Chem       Date:  2011-08-05       Impact factor: 5.157

2.  Rare variant mutations identified in pediatric patients with dilated cardiomyopathy.

Authors:  Evadnie Rampersaud; Jill D Siegfried; Nadine Norton; Duanxiang Li; Eden Martin; Ray E Hershberger
Journal:  Prog Pediatr Cardiol       Date:  2011-01-01

3.  A dilated cardiomyopathy troponin C mutation lowers contractile force by reducing strong myosin-actin binding.

Authors:  David Dweck; Daniel P Reynaldo; Jose R Pinto; James D Potter
Journal:  J Biol Chem       Date:  2010-04-06       Impact factor: 5.157

4.  Challenging current paradigms related to cardiomyopathies. Are changes in the Ca2+ sensitivity of myofilaments containing cardiac troponin C mutations (G159D and L29Q) good predictors of the phenotypic outcomes?

Authors:  David Dweck; Nir Hus; James D Potter
Journal:  J Biol Chem       Date:  2008-09-26       Impact factor: 5.157

Review 5.  Biochemical characterisation of Troponin C mutations causing hypertrophic and dilated cardiomyopathies.

Authors:  Athanasia Kalyva; Fragiskos I Parthenakis; Maria E Marketou; Joanna E Kontaraki; Panos E Vardas
Journal:  J Muscle Res Cell Motil       Date:  2014-04-18       Impact factor: 2.698

6.  Impaired relaxation is the main manifestation in transgenic mice expressing a restrictive cardiomyopathy mutation, R193H, in cardiac TnI.

Authors:  Jianfeng Du; Jing Liu; Han-Zhong Feng; M M Hossain; Nariman Gobara; Chi Zhang; Yuejin Li; Pierre-Yves Jean-Charles; Jian-Ping Jin; Xu-Pei Huang
Journal:  Am J Physiol Heart Circ Physiol       Date:  2008-04-11       Impact factor: 4.733

Review 7.  Structure and function of cardiac troponin C (TNNC1): Implications for heart failure, cardiomyopathies, and troponin modulating drugs.

Authors:  Monica X Li; Peter M Hwang
Journal:  Gene       Date:  2015-07-29       Impact factor: 3.688

8.  Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes.

Authors:  Petr G Vikhorev; Natalia Smoktunowicz; Alex B Munster; O'Neal Copeland; Sawa Kostin; Cecile Montgiraud; Andrew E Messer; Mohammad R Toliat; Amy Li; Cristobal G Dos Remedios; Sean Lal; Cheavar A Blair; Kenneth S Campbell; Maya Guglin; Manfred Richter; Ralph Knöll; Steven B Marston
Journal:  Sci Rep       Date:  2017-11-01       Impact factor: 4.379

Review 9.  Investigating the role of uncoupling of troponin I phosphorylation from changes in myofibrillar Ca(2+)-sensitivity in the pathogenesis of cardiomyopathy.

Authors:  Andrew E Messer; Steven B Marston
Journal:  Front Physiol       Date:  2014-08-25       Impact factor: 4.566

Review 10.  Untying the knot: protein quality control in inherited cardiomyopathies.

Authors:  Larissa M Dorsch; Maike Schuldt; Dora Knežević; Marit Wiersma; Diederik W D Kuster; Jolanda van der Velden; Bianca J J M Brundel
Journal:  Pflugers Arch       Date:  2018-08-14       Impact factor: 3.657

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