Literature DB >> 14729850

Clinical and genetic characteristics of alpha cardiac actin gene mutations in hypertrophic cardiomyopathy.

J Mogensen, A Perrot, P S Andersen, O Havndrup, I C Klausen, M Christiansen, P Bross, H Egeblad, H Bundgaard, K J Osterziel, G Haltern, H Lapp, P Reinecke, N Gregersen, A D Børglum.   

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Year:  2004        PMID： 14729850      PMCID： PMC1757257          DOI： 10.1136/jmg.2003.010447

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  25 in total

1.  Functional characterization of the human α-cardiac actin mutations Y166C and M305L involved in hypertrophic cardiomyopathy.

Authors:  Mirco Müller; Antonina Joanna Mazur; Elmar Behrmann; Ralph P Diensthuber; Michael B Radke; Zheng Qu; Christoph Littwitz; Stefan Raunser; Cora-Ann Schoenenberger; Dietmar J Manstein; Hans Georg Mannherz
Journal:  Cell Mol Life Sci       Date:  2012-05-29       Impact factor: 9.261

Review 2.  Sarcomeric proteins and familial hypertrophic cardiomyopathy: linking mutations in structural proteins to complex cardiovascular phenotypes.

Authors:  Jil C Tardiff
Journal:  Heart Fail Rev       Date:  2005-09       Impact factor: 4.214

Review 3.  Targeting the sarcomere to correct muscle function.

Authors:  Peter M Hwang; Brian D Sykes
Journal:  Nat Rev Drug Discov       Date:  2015-04-17       Impact factor: 84.694

4.  Using baculovirus/insect cell expressed recombinant actin to study the molecular pathogenesis of HCM caused by actin mutation A331P.

Authors:  Fan Bai; Hannah M Caster; Peter A Rubenstein; John F Dawson; Masataka Kawai
Journal:  J Mol Cell Cardiol       Date:  2014-04-30       Impact factor: 5.000

Review 5.  The makings of the 'actin code': regulation of actin's biological function at the amino acid and nucleotide level.

Authors:  Pavan Vedula; Anna Kashina
Journal:  J Cell Sci       Date:  2018-05-08       Impact factor: 5.285

6.  Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse.

Authors:  Weihua Song; Emma Dyer; Daniel J Stuckey; O'Neal Copeland; Man-Ching Leung; Christopher Bayliss; Andrew Messer; Ross Wilkinson; Jordi Lopez Tremoleda; Michael D Schneider; Sian E Harding; Charles S Redwood; Kieran Clarke; Kristen Nowak; Lorenzo Monserrat; Dominic Wells; Steven B Marston
Journal:  J Biol Chem       Date:  2011-05-26       Impact factor: 5.157

7.  Genetic variations of α-cardiac actin and cardiac muscle LIM protein in hypertrophic cardiomyopathy in South India.

Authors:  Advithi Rangaraju; Deepa Selvi Rani; Ml Satyanarayana; Narasimhan Calambur; Nalla Swapna; Pratibha Nallari
Journal:  Exp Clin Cardiol       Date:  2012

8.  Aortic wall proteomic analysis in spontaneously hypertensive rats with a blood pressure decrease induced by 6-week load-free swimming.

Authors:  Hong Feng; Haiying Li; Derong Zhang; Yungang Zhao; Ning Jiang; Xiaoling Zhao; Y U Zhang; Junzhen Tan; Wen Fang; Yong Zhang; Wei Liu
Journal:  Biomed Rep       Date:  2015-07-10

9.  Development of apical hypertrophic cardiomyopathy with age in a transgenic mouse model carrying the cardiac actin E99K mutation.

Authors:  Li Wang; Fan Bai; Qing Zhang; Weihua Song; Andrew Messer; Masataka Kawai
Journal:  J Muscle Res Cell Motil       Date:  2018-03-26       Impact factor: 2.698

Review 10.  Rescue of familial cardiomyopathies by modifications at the level of sarcomere and Ca2+ fluxes.

Authors:  Marco L Alves; Robert D Gaffin; Beata M Wolska
Journal:  J Mol Cell Cardiol       Date:  2010-01-15       Impact factor: 5.000
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