Literature DB >> 25651172

The genetic landscape of cardiomyopathy and its role in heart failure.

Elizabeth M McNally1, David Y Barefield2, Megan J Puckelwartz2.   

Abstract

Heart failure is highly influenced by heritability, and nearly 100 genes link to familial cardiomyopathy. Despite the marked genetic diversity that underlies these complex cardiovascular phenotypes, several key genes and pathways have emerged. Hypertrophic cardiomyopathy is characterized by increased contractility and a greater energetic cost of cardiac output. Dilated cardiomyopathy is often triggered by mutations that disrupt the giant protein titin. The energetic consequences of these mutations offer molecular targets and opportunities for new drug development and gene correction therapies.
Copyright © 2015 Elsevier Inc. All rights reserved.

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Year:  2015        PMID: 25651172      PMCID: PMC4331062          DOI: 10.1016/j.cmet.2015.01.013

Source DB:  PubMed          Journal:  Cell Metab        ISSN: 1550-4131            Impact factor:   27.287


  104 in total

1.  Series of exon-skipping events in the elastic spring region of titin as the structural basis for myofibrillar elastic diversity.

Authors:  A Freiburg; K Trombitas; W Hell; O Cazorla; F Fougerousse; T Centner; B Kolmerer; C Witt; J S Beckmann; C C Gregorio; H Granzier; S Labeit
Journal:  Circ Res       Date:  2000-06-09       Impact factor: 17.367

2.  A gain-of-function mutation in the M-domain of cardiac myosin-binding protein-C increases binding to actin.

Authors:  Kristina L Bezold; Justin F Shaffer; Jaskiran K Khosa; Elaine R Hoye; Samantha P Harris
Journal:  J Biol Chem       Date:  2013-06-19       Impact factor: 5.157

3.  Hypertrophic cardiomyopathy in cardiac myosin binding protein-C knockout mice.

Authors:  Samantha P Harris; Christopher R Bartley; Timothy A Hacker; Kerry S McDonald; Pamela S Douglas; Marion L Greaser; Patricia A Powers; Richard L Moss
Journal:  Circ Res       Date:  2002-03-22       Impact factor: 17.367

Review 4.  The energetic cost of contraction is higher in the myocardium of patients with hypertrophic cardiomyopathy.

Authors:  Joanne S Ingwall
Journal:  Cardiovasc Res       Date:  2014-06-15       Impact factor: 10.787

5.  Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention.

Authors:  Barry J Maron; Jeffrey A Towbin; Gaetano Thiene; Charles Antzelevitch; Domenico Corrado; Donna Arnett; Arthur J Moss; Christine E Seidman; James B Young
Journal:  Circulation       Date:  2006-03-27       Impact factor: 29.690

Review 6.  Antisense-mediated exon skipping: taking advantage of a trick from Mother Nature to treat rare genetic diseases.

Authors:  Marcel Veltrop; Annemieke Aartsma-Rus
Journal:  Exp Cell Res       Date:  2014-01-31       Impact factor: 3.905

7.  Unique single molecule binding of cardiac myosin binding protein-C to actin and phosphorylation-dependent inhibition of actomyosin motility requires 17 amino acids of the motif domain.

Authors:  Abbey Weith; Sakthivel Sadayappan; James Gulick; Michael J Previs; Peter Vanburen; Jeffrey Robbins; David M Warshaw
Journal:  J Mol Cell Cardiol       Date:  2011-09-25       Impact factor: 5.000

8.  Truncation of titin's elastic PEVK region leads to cardiomyopathy with diastolic dysfunction.

Authors:  Henk L Granzier; Michael H Radke; Jun Peng; Dirk Westermann; O Lynne Nelson; Katharina Rost; Nicholas M P King; Qianli Yu; Carsten Tschöpe; Mark McNabb; Douglas F Larson; Siegfried Labeit; Michael Gotthardt
Journal:  Circ Res       Date:  2009-08-13       Impact factor: 17.367

9.  Tnni3k modifies disease progression in murine models of cardiomyopathy.

Authors:  Ferrin C Wheeler; Hao Tang; Odessa A Marks; Tracy N Hadnott; Pei-Lun Chu; Lan Mao; Howard A Rockman; Douglas A Marchuk
Journal:  PLoS Genet       Date:  2009-09-18       Impact factor: 5.917

10.  Seamless gene correction of β-thalassemia mutations in patient-specific iPSCs using CRISPR/Cas9 and piggyBac.

Authors:  Fei Xie; Lin Ye; Judy C Chang; Ashley I Beyer; Jiaming Wang; Marcus O Muench; Yuet Wai Kan
Journal:  Genome Res       Date:  2014-08-05       Impact factor: 9.043

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  42 in total

1.  Experimental Modeling Supports a Role for MyBP-HL as a Novel Myofilament Component in Arrhythmia and Dilated Cardiomyopathy.

Authors:  David Y Barefield; Megan J Puckelwartz; Ellis Y Kim; Lisa D Wilsbacher; Andy H Vo; Emily A Waters; Judy U Earley; Michele Hadhazy; Lisa Dellefave-Castillo; Lorenzo L Pesce; Elizabeth M McNally
Journal:  Circulation       Date:  2017-08-04       Impact factor: 29.690

Review 2.  A multidimensional sight on cardiac failure: uncovered from structural to molecular level.

Authors:  Vijay Urmaliya; Gustavo Franchelli
Journal:  Heart Fail Rev       Date:  2017-05       Impact factor: 4.214

Review 3.  A CRISPR Path to Engineering New Genetic Mouse Models for Cardiovascular Research.

Authors:  Joseph M Miano; Qiuyu Martin Zhu; Charles J Lowenstein
Journal:  Arterioscler Thromb Vasc Biol       Date:  2016-04-21       Impact factor: 8.311

Review 4.  Pluripotent Stem Cell-Derived Cardiomyocyte Transplantation for Heart Disease Treatment.

Authors:  Shin Kadota; Yuji Shiba
Journal:  Curr Cardiol Rep       Date:  2019-06-21       Impact factor: 2.931

5.  Myocardial Induction of Type 3 Deiodinase in Dilated Cardiomyopathy.

Authors:  Ari J Wassner; Rebecca H Jugo; David M Dorfman; Robert F Padera; Michelle A Maynard; Ann M Zavacki; Patrick Y Jay; Stephen A Huang
Journal:  Thyroid       Date:  2017-04-05       Impact factor: 6.568

Review 6.  Dilated Cardiomyopathy: Genetic Determinants and Mechanisms.

Authors:  Elizabeth M McNally; Luisa Mestroni
Journal:  Circ Res       Date:  2017-09-15       Impact factor: 17.367

7.  Bioinformatics method identifies potential biomarkers of dilated cardiomyopathy in a human induced pluripotent stem cell-derived cardiomyocyte model.

Authors:  Yu Zhuang; Yu-Jia Gong; Bei-Fen Zhong; Yi Zhou; Li Gong
Journal:  Exp Ther Med       Date:  2017-07-28       Impact factor: 2.447

Review 8.  Morphomechanic phenotypic variability of sarcomeric cardiomyopathies: A multifactorial polygenic perspective.

Authors:  Ares Pasipoularides
Journal:  J Mol Cell Cardiol       Date:  2018-11-10       Impact factor: 5.000

9.  Sex dimorphisms of crossbridge cycling kinetics in transgenic hypertrophic cardiomyopathy mice.

Authors:  Camille L Birch; Samantha M Behunin; Marissa A Lopez-Pier; Christiane Danilo; Yulia Lipovka; Chandra Saripalli; Henk Granzier; John P Konhilas
Journal:  Am J Physiol Heart Circ Physiol       Date:  2016-05-06       Impact factor: 4.733

10.  MYBPC3 Haplotype Linked to Hypertrophic Cardiomyopathy in Rhesus Macaques (Macaca mulatta).

Authors:  Robert F Oldt; Kimberly J Bussey; Matthew L Settles; Joseph N Fass; Jeffrey A Roberts; J Rachel Reader; Srivathsan Komandoor; Victor A Abrich; Sreetharan Kanthaswamy
Journal:  Comp Med       Date:  2020-08-04       Impact factor: 0.982

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