Literature DB >> 12465455

Molecular diagnosis of myocardial disease.

Jeffrey A Towbin1, Neil E Bowles.   

Abstract

Myocardial disorders are major causes of morbidity and mortality, including heart failure, sudden death and the need for heart transplantation. The two most common forms of myocardial disorders, dilated cardiomyopathy and hypertrophic cardiomyopathy are paradigms of left ventricular systolic dysfunction and diastolic dysfunction. The genetics of these disorders are increasingly understood with the sarcomere playing a central role in the development of HCM and the link between sarcomere and sarcolemma being key to the development of DCM. In this review, the genetics of the myocardial diseases will be described.

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Year:  2002        PMID: 12465455     DOI: 10.1586/14737159.2.6.587

Source DB:  PubMed          Journal:  Expert Rev Mol Diagn        ISSN: 1473-7159            Impact factor:   5.225


  4 in total

1.  Cardiac myosin missense mutations cause dilated cardiomyopathy in mouse models and depress molecular motor function.

Authors:  Joachim P Schmitt; Edward P Debold; Ferhaan Ahmad; Amy Armstrong; Andrea Frederico; David A Conner; Ulrike Mende; Martin J Lohse; David Warshaw; Christine E Seidman; J G Seidman
Journal:  Proc Natl Acad Sci U S A       Date:  2006-09-18       Impact factor: 11.205

2.  Characterization of cardiomyopathy cases at a forensic institute in the period 1992-2006 and perspectives for screening.

Authors:  Shoaib Afzal; Ingrid Bayer Kristensen
Journal:  Forensic Sci Med Pathol       Date:  2008-01-30       Impact factor: 2.007

3.  Phospholamban C-terminal residues are critical determinants of the structure and function of the calcium ATPase regulatory complex.

Authors:  Neha Abrol; Nikolai Smolin; Gareth Armanious; Delaine K Ceholski; Catharine A Trieber; Howard S Young; Seth L Robia
Journal:  J Biol Chem       Date:  2014-07-29       Impact factor: 5.157

4.  Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings.

Authors:  Jacoba J Louw; Ricardo Nunes Bastos; Xiaowen Chen; Céline Verdood; Anniek Corveleyn; Yaojuan Jia; Jeroen Breckpot; Marc Gewillig; Hilde Peeters; Massimo M Santoro; Francis Barr; Koenraad Devriendt
Journal:  PLoS Genet       Date:  2018-01-22       Impact factor: 5.917

  4 in total

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