Literature DB >> 14636924

Prevalence and clinical profile of troponin T mutations among patients with hypertrophic cardiomyopathy in tuscany.

Francesca Torricelli1, Francesca Girolami, Iacopo Olivotto, Ilaria Passerini, Sabrina Frusconi, Daniela Vargiu, Pascale Richard, Franco Cecchi.   

Abstract

The prevalence and clinical profile of cardiac troponin T gene mutations were evaluated in 150 consecutive patients with hypertrophic cardiomyopathy from the well-defined geographic region of Tuscany. Troponin T mutations had a low prevalence (3.3%; including a newly described Phe110Leu mutation) and were associated with heterogeneous clinical expression and outcome.

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Year:  2003        PMID: 14636924     DOI: 10.1016/j.amjcard.2003.08.031

Source DB:  PubMed          Journal:  Am J Cardiol        ISSN: 0002-9149            Impact factor:   2.778


  7 in total

1.  Low prevalence of cardiac troponin T mutations in a Greek hypertrophic cardiomyopathy cohort.

Authors:  A Miliou; A Anastasakis; L G D'Cruz; A Theopistou; A Rigopoulos; I Rizos; S Stamatelopoulos; P Toutouzas; C Stefanadis
Journal:  Heart       Date:  2005-07       Impact factor: 5.994

2.  Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.

Authors:  Sinead L Murphy; Jason H Anderson; Jamie D Kapplinger; Teresa M Kruisselbrink; Bernard J Gersh; Steve R Ommen; Michael J Ackerman; J Martijn Bos
Journal:  J Cardiovasc Transl Res       Date:  2016-02-25       Impact factor: 4.132

Review 3.  Genetic determinants of cardiac hypertrophy.

Authors:  Ali J Marian
Journal:  Curr Opin Cardiol       Date:  2008-05       Impact factor: 2.161

4.  FRET-based analysis of the cardiac troponin T linker region reveals the structural basis of the hypertrophic cardiomyopathy-causing Δ160E mutation.

Authors:  Salwa Abdullah; Melissa L Lynn; Mark T McConnell; Matthew M Klass; Anthony P Baldo; Steven D Schwartz; Jil C Tardiff
Journal:  J Biol Chem       Date:  2019-08-06       Impact factor: 5.157

Review 5.  Cardiac troponin structure-function and the influence of hypertrophic cardiomyopathy associated mutations on modulation of contractility.

Authors:  Yuanhua Cheng; Michael Regnier
Journal:  Arch Biochem Biophys       Date:  2016-02-04       Impact factor: 4.013

Review 6.  The expanding role of epigenetics.

Authors:  Georgia Kalozoumi; Christos Tzimas; Despina Sanoudou
Journal:  Glob Cardiol Sci Pract       Date:  2012-07-04

7.  Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca(2+)-sensitivity and suppress the modulation of Ca(2+)-sensitivity by troponin I phosphorylation.

Authors:  Andrew E Messer; Christopher R Bayliss; Mohammed El-Mezgueldi; Charles S Redwood; Douglas G Ward; Man-Ching Leung; Maria Papadaki; Cristobal Dos Remedios; Steven B Marston
Journal:  Arch Biochem Biophys       Date:  2016-03-29       Impact factor: 4.013

  7 in total

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