Literature DB >> 8951566

Clinical manifestations of hypertrophic cardiomyopathy with mutations in the cardiac beta-myosin heavy chain gene or cardiac troponin T gene.

Y Koga1, H Toshima, A Kimura, H Harada, T Koyanagi, H Nishi, M Nakata, T Imaizumi.   

Abstract

Introduction of molecular genetics has improved our understanding of HCM substantially, but has simultaneously raised further important questions. Studies on HCM are revealing a more complex picture than might have been expected on clinical grounds. Further extensive studies are warranted to elucidate the pathogenesis and pathophysiology of HCM, and to establish therapeutic strategies to cure or prevent the development of the disease.

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Year:  1996        PMID: 8951566     DOI: 10.1016/s1071-9164(96)80064-9

Source DB:  PubMed          Journal:  J Card Fail        ISSN: 1071-9164            Impact factor:   5.712


  5 in total

1.  Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region.

Authors:  T Palm; S Graboski; S E Hitchcock-DeGregori; N J Greenfield
Journal:  Biophys J       Date:  2001-11       Impact factor: 4.033

Review 2.  TNNT1, TNNT2, and TNNT3: Isoform genes, regulation, and structure-function relationships.

Authors:  Bin Wei; J-P Jin
Journal:  Gene       Date:  2016-01-13       Impact factor: 3.688

3.  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

4.  Molecular mechanisms and structural features of cardiomyopathy-causing troponin T mutants in the tropomyosin overlap region.

Authors:  Binnu Gangadharan; Margaret S Sunitha; Souhrid Mukherjee; Ritu Roy Chowdhury; Farah Haque; Narendrakumar Sekar; Ramanathan Sowdhamini; James A Spudich; John A Mercer
Journal:  Proc Natl Acad Sci U S A       Date:  2017-10-02       Impact factor: 11.205

5.  Pathogenesis of Hypertrophic Cardiomyopathy is Mutation Rather Than Disease Specific: A Comparison of the Cardiac Troponin T E163R and R92Q Mouse Models.

Authors:  Cecilia Ferrantini; Raffaele Coppini; Josè Manuel Pioner; Francesca Gentile; Benedetta Tosi; Luca Mazzoni; Beatrice Scellini; Nicoletta Piroddi; Annunziatina Laurino; Lorenzo Santini; Valentina Spinelli; Leonardo Sacconi; Pieter De Tombe; Rachel Moore; Jil Tardiff; Alessandro Mugelli; Iacopo Olivotto; Elisabetta Cerbai; Chiara Tesi; Corrado Poggesi
Journal:  J Am Heart Assoc       Date:  2017-07-22       Impact factor: 5.501

  5 in total

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