Literature DB >> 9879437

Molecular genetic studies of familial hypertrophic cardiomyopathy.

C E Seidman1, J G Seidman.   

Abstract

Molecular genetic studies of FHC have defined this as disease of the sarcomere. Multiple different mutations in six disease genes, which appear to act through a dominant negative mechanism, have been identified. A relevant murine model of human FHC has been developed. Assessment of the influences that genetics and environment play in disease expression may in the future help direct patient management and assist in the development of novel therapeutics.

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Year:  1998        PMID： 9879437     DOI： 10.1007/s003950050196

Source DB:  PubMed          Journal:  Basic Res Cardiol        ISSN： 0300-8428            Impact factor:   17.165


  27 in total

Review 1.  Molecular genetics of cardiomyopathies.

Authors:  G Shah; R Roberts
Journal:  J Nucl Cardiol       Date:  2000 Mar-Apr       Impact factor: 5.952

2.  A locus for autosomal dominant mitral valve prolapse on chromosome 11p15.4.

Authors:  Lisa A Freed; James S Acierno; Daisy Dai; Maire Leyne; Jane E Marshall; Francesca Nesta; Robert A Levine; Susan A Slaugenhaupt
Journal:  Am J Hum Genet       Date:  2003-04-21       Impact factor: 11.025

Review 3.  The molecular genetic basis for hypertrophic cardiomyopathy.

Authors:  A J Marian; R Roberts
Journal:  J Mol Cell Cardiol       Date:  2001-04       Impact factor: 5.000

4.  From malignant mutations to malignant domains: the continuing search for prognostic significance in the mutant genes causing hypertrophic cardiomyopathy.

Authors:  S L Van Driest; B J Maron; M J Ackerman
Journal:  Heart       Date:  2004-01       Impact factor: 5.994

5.  Swimming exercise in infancy has beneficial effect on the hearts in cardiomyopathic Syrian hamsters.

Authors:  Mariko Tatsuguchi; Eriko Hiratsuka; Shuichi Machida; Toshio Nishikawa; Shin-Ichiro Imamura; Satoru Shimizu; Masahiko Nishimura; Issei Komuro; Yoshiyuki Furutani; Michiko Furutani; Hiroaki Nagao; Keiko Komatsu; Hiroshi Kasanuki; Rumiko Matsuoka
Journal:  J Muscle Res Cell Motil       Date:  2004       Impact factor: 2.698

6.  Structural and functional aspects of the myosin essential light chain in cardiac muscle contraction.

Authors:  Priya Muthu; Li Wang; Chen-Ching Yuan; Katarzyna Kazmierczak; Wenrui Huang; Olga M Hernandez; Masataka Kawai; Thomas C Irving; Danuta Szczesna-Cordary
Journal:  FASEB J       Date:  2011-09-01       Impact factor: 5.191

7.  Age-related changes in familial hypertrophic cardiomyopathy phenotype in transgenic mice and humans.

Authors:  Hong-Chang Luo; Iraklis Pozios; Styliani Vakrou; Lars Sorensen; Roselle M Abraham; Theodore Abraham
Journal:  J Huazhong Univ Sci Technolog Med Sci       Date:  2014-10-16

8.  Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice.

Authors:  B K McConnell; K A Jones; D Fatkin; L H Arroyo; R T Lee; O Aristizabal; D H Turnbull; D Georgakopoulos; D Kass; M Bond; H Niimura; F J Schoen; D Conner; D A Fischman; C E Seidman; J G Seidman; D H Fischman
Journal:  J Clin Invest       Date:  1999-11       Impact factor: 14.808

Review 9.  Hereditary heart disease: pathophysiology, clinical presentation, and animal models of HCM, RCM, and DCM associated with mutations in cardiac myosin light chains.

Authors:  Sunil Yadav; Yoel H Sitbon; Katarzyna Kazmierczak; Danuta Szczesna-Cordary
Journal:  Pflugers Arch       Date:  2019-01-31       Impact factor: 3.657

10.  Malignant familial hypertrophic cardiomyopathy D166V mutation in the ventricular myosin regulatory light chain causes profound effects in skinned and intact papillary muscle fibers from transgenic mice.

Authors:  W Glenn L Kerrick; Katarzyna Kazmierczak; Yuanyuan Xu; Yingcai Wang; Danuta Szczesna-Cordary
Journal:  FASEB J       Date:  2008-11-05       Impact factor: 5.191
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