Literature DB >> 11385718

First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy.

B Hoffmann1, H Schmidt-Traub, A Perrot, K J Osterziel, R Gessner.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2001        PMID： 11385718     DOI： 10.1002/humu.1143

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


× No keyword cloud information.
  46 in total

Review 1.  Modifier genes for hypertrophic cardiomyopathy.

Authors:  A J Marian
Journal:  Curr Opin Cardiol       Date:  2002-05       Impact factor: 2.161

2.  Distinct troponin C isoform requirements in cardiac and skeletal muscle.

Authors:  Vanessa M Sogah; Fabrizio C Serluca; Mark C Fishman; Deborah L Yelon; Calum A Macrae; John D Mably
Journal:  Dev Dyn       Date:  2010-11       Impact factor: 3.780

Review 3.  Mechanical and energetic consequences of HCM-causing mutations.

Authors:  Cecilia Ferrantini; Alexandra Belus; Nicoletta Piroddi; Beatrice Scellini; Chiara Tesi; Corrado Poggesi
Journal:  J Cardiovasc Transl Res       Date:  2009-10-09       Impact factor: 4.132

Review 4.  Structural based insights into the role of troponin in cardiac muscle pathophysiology.

Authors:  Monica X Li; Xu Wang; Brian D Sykes
Journal:  J Muscle Res Cell Motil       Date:  2005-02-09       Impact factor: 2.698

5.  Changing a limb muscle growth program into a resorption program.

Authors:  Liquan Cai; Biswajit Das; Donald D Brown
Journal:  Dev Biol       Date:  2006-12-19       Impact factor: 3.582

6.  Myosin Rod Hypophosphorylation and CB Kinetics in Papillary Muscles from a TnC-A8V KI Mouse Model.

Authors:  Masataka Kawai; Jamie R Johnston; Tarek Karam; Li Wang; Rakesh K Singh; Jose R Pinto
Journal:  Biophys J       Date:  2017-04-25       Impact factor: 4.033

7.  A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation.

Authors:  Michelle S Parvatiyar; Andrew P Landstrom; Cicero Figueiredo-Freitas; James D Potter; Michael J Ackerman; Jose Renato Pinto
Journal:  J Biol Chem       Date:  2012-07-18       Impact factor: 5.157

8.  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

9.  Enhanced troponin I binding explains the functional changes produced by the hypertrophic cardiomyopathy mutation A8V of cardiac troponin C.

Authors:  Henry G Zot; Javier E Hasbun; Clara A Michell; Maicon Landim-Vieira; Jose R Pinto
Journal:  Arch Biochem Biophys       Date:  2016-03-11       Impact factor: 4.013

10.  The cardiac troponin C mutation Leu29Gln found in a patient with hypertrophic cardiomyopathy does not alter contractile parameters in skinned murine myocardium.

Authors:  Axel Neulen; Robert Stehle; Gabriele Pfitzer
Journal:  Basic Res Cardiol       Date:  2009-06-09       Impact factor: 17.165
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.