Literature DB >> 15765133

Genetic causes of human heart failure.

Hiroyuki Morita1, Jonathan Seidman, Christine E Seidman.   

Abstract

Factors that render patients with cardiovascular disease at high risk for heart failure remain incompletely defined. Recent insights into molecular genetic causes of myocardial diseases have highlighted the importance of single-gene defects in the pathogenesis of heart failure. Through analyses of the mechanisms by which a mutation selectively perturbs one component of cardiac physiology and triggers cell and molecular responses, studies of human gene mutations provide a window into the complex processes of cardiac remodeling and heart failure. Knowledge gleaned from these studies shows promise for defining novel therapeutic targets for genetic and acquired causes of heart failure.

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Year:  2005        PMID: 15765133      PMCID: PMC1052010          DOI: 10.1172/JCI24351

Source DB:  PubMed          Journal:  J Clin Invest        ISSN: 0021-9738            Impact factor:   14.808


  94 in total

1.  Impaired cardiac performance in heterozygous mice with a null mutation in the sarco(endo)plasmic reticulum Ca2+-ATPase isoform 2 (SERCA2) gene.

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Journal:  J Biol Chem       Date:  1999-01-22       Impact factor: 5.157

2.  Enteroviral protease 2A cleaves dystrophin: evidence of cytoskeletal disruption in an acquired cardiomyopathy.

Authors:  C Badorff; G H Lee; B J Lamphear; M E Martone; K P Campbell; R E Rhoads; K U Knowlton
Journal:  Nat Med       Date:  1999-03       Impact factor: 53.440

3.  Neonatal cardiomyopathy in mice homozygous for the Arg403Gln mutation in the alpha cardiac myosin heavy chain gene.

Authors:  D Fatkin; M E Christe; O Aristizabal; B K McConnell; S Srinivasan; F J Schoen; C E Seidman; D H Turnbull; J G Seidman
Journal:  J Clin Invest       Date:  1999-01       Impact factor: 14.808

4.  Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction.

Authors:  Jan Lammerding; P Christian Schulze; Tomosaburo Takahashi; Serguei Kozlov; Teresa Sullivan; Roger D Kamm; Colin L Stewart; Richard T Lee
Journal:  J Clin Invest       Date:  2004-02       Impact factor: 14.808

5.  Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice.

Authors:  Vesna Nikolova; Christiana Leimena; Aisling C McMahon; Ju Chiat Tan; Suchitra Chandar; Dilesh Jogia; Scott H Kesteven; Jan Michalicek; Robyn Otway; Fons Verheyen; Stephen Rainer; Colin L Stewart; David Martin; Michael P Feneley; Diane Fatkin
Journal:  J Clin Invest       Date:  2004-02       Impact factor: 14.808

6.  Smooth muscle cell-extrinsic vascular spasm arises from cardiomyocyte degeneration in sarcoglycan-deficient cardiomyopathy.

Authors:  Matthew T Wheeler; Michael J Allikian; Ahlke Heydemann; Michele Hadhazy; Sara Zarnegar; Elizabeth M McNally
Journal:  J Clin Invest       Date:  2004-03       Impact factor: 14.808

Review 7.  Cardiac histone acetylation--therapeutic opportunities abound.

Authors:  Timothy A McKinsey; Eric N Olson
Journal:  Trends Genet       Date:  2004-04       Impact factor: 11.639

8.  Mice lacking calsarcin-1 are sensitized to calcineurin signaling and show accelerated cardiomyopathy in response to pathological biomechanical stress.

Authors:  Norbert Frey; Tomasa Barrientos; John M Shelton; Derk Frank; Hartmut Rütten; Doris Gehring; Christian Kuhn; Matthias Lutz; Beverly Rothermel; Rhonda Bassel-Duby; James A Richardson; Hugo A Katus; Joseph A Hill; Eric N Olson
Journal:  Nat Med       Date:  2004-11-14       Impact factor: 53.440

9.  The cardiac homeobox gene Csx/Nkx2.5 lies genetically upstream of multiple genes essential for heart development.

Authors:  M Tanaka; Z Chen; S Bartunkova; N Yamasaki; S Izumo
Journal:  Development       Date:  1999-03       Impact factor: 6.868

10.  Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation.

Authors:  F M Santorelli; K Tanji; P Manta; C Casali; S Krishna; A P Hays; D M Mancini; S DiMauro; M Hirano
Journal:  Am J Hum Genet       Date:  1999-01       Impact factor: 11.025

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  97 in total

1.  Systems analysis reveals down-regulation of a network of pro-survival miRNAs drives the apoptotic response in dilated cardiomyopathy.

Authors:  Ruth Isserlin; Daniele Merico; Dingyan Wang; Dajana Vuckovic; Nicolas Bousette; Anthony O Gramolini; Gary D Bader; Andrew Emili
Journal:  Mol Biosyst       Date:  2014-10-31

2.  Cardiomyopathy-linked myosin regulatory light chain mutations disrupt myosin strain-dependent biochemistry.

Authors:  Michael J Greenberg; Katarzyna Kazmierczak; Danuta Szczesna-Cordary; Jeffrey R Moore
Journal:  Proc Natl Acad Sci U S A       Date:  2010-09-20       Impact factor: 11.205

Review 3.  Cardiovascular genetic medicine: evolving concepts, rationale, and implementation.

Authors:  Ray E Hershberger
Journal:  J Cardiovasc Transl Res       Date:  2008-05-20       Impact factor: 4.132

4.  Differential responses of induced pluripotent stem cell-derived cardiomyocytes to anisotropic strain depends on disease status.

Authors:  Young Wook Chun; David E Voyles; Rutwik Rath; Lucas H Hofmeister; Timothy C Boire; Henry Wilcox; Jae Han Lee; Leon M Bellan; Charles C Hong; Hak-Joon Sung
Journal:  J Biomech       Date:  2015-10-08       Impact factor: 2.712

5.  Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy.

Authors:  Marwan M Refaat; Steven A Lubitz; Seiko Makino; Zahid Islam; J Michael Frangiskakis; Haider Mehdi; Rebecca Gutmann; Michael L Zhang; Heather L Bloom; Calum A MacRae; Samuel C Dudley; Alaa A Shalaby; Raul Weiss; Dennis M McNamara; Barry London; Patrick T Ellinor
Journal:  Heart Rhythm       Date:  2011-10-17       Impact factor: 6.343

6.  Towards causally cohesive genotype-phenotype modelling for characterization of the soft-tissue mechanics of the heart in normal and pathological geometries.

Authors:  Øyvind Nordbø; Arne B Gjuvsland; Anders Nermoen; Sander Land; Steven Niederer; Pablo Lamata; Jack Lee; Nicolas P Smith; Stig W Omholt; Jon Olav Vik
Journal:  J R Soc Interface       Date:  2015-05-06       Impact factor: 4.118

Review 7.  Update 2011: clinical and genetic issues in familial dilated cardiomyopathy.

Authors:  Ray E Hershberger; Jill D Siegfried
Journal:  J Am Coll Cardiol       Date:  2011-04-19       Impact factor: 24.094

Review 8.  [Pathophysiology of heart failure].

Authors:  T Kempf; H Drexler; K C Wollert
Journal:  Internist (Berl)       Date:  2007-09       Impact factor: 0.743

9.  Low-dose dasatinib rescues cardiac function in Noonan syndrome.

Authors:  Jae-Sung Yi; Yan Huang; Andrea T Kwaczala; Ivana Y Kuo; Barbara E Ehrlich; Stuart G Campbell; Frank J Giordano; Anton M Bennett
Journal:  JCI Insight       Date:  2016-12-08

Review 10.  Cardiac troponins and autoimmunity: their role in the pathogenesis of myocarditis and of heart failure.

Authors:  Ziya Kaya; Hugo A Katus; Noel R Rose
Journal:  Clin Immunol       Date:  2009-05-14       Impact factor: 3.969

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