Literature DB >> 10679957

A novel missense mutation (R712L) adjacent to the "active thiol" region of the cardiac beta-myosin heavy chain gene causing hypertrophic cardiomyopathy in an Indian family.

S Sakthivel1, P K Joseph, J M Tharakan, H P Vosberg, C Rajamanickam.   

Abstract

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Year:  2000        PMID： 10679957     DOI： 10.1002/(SICI)1098-1004(200003)15:3<298::AID-HUMU22>3.0.CO;2-7

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  7 in total

Review 1.  Candidate genes and confirmed genetic polymorphisms associated with cardiovascular diseases: a tabular assessment.

Authors:  Z Tang; R P Tracy
Journal:  J Thromb Thrombolysis       Date:  2001-02       Impact factor: 2.300

2.  A Failure to Communicate: MYOSIN RESIDUES INVOLVED IN HYPERTROPHIC CARDIOMYOPATHY AFFECT INTER-DOMAIN INTERACTION.

Authors:  William A Kronert; Girish C Melkani; Anju Melkani; Sanford I Bernstein
Journal:  J Biol Chem       Date:  2015-10-07       Impact factor: 5.157

Review 3.  Recent Advances in the Molecular Genetics of Familial Hypertrophic Cardiomyopathy in South Asian Descendants.

Authors:  Jessica Kraker; Shiv Kumar Viswanathan; Ralph Knöll; Sakthivel Sadayappan
Journal:  Front Physiol       Date:  2016-10-28       Impact factor: 4.566

4.  Myosin with hypertrophic cardiac mutation R712L has a decreased working stroke which is rescued by omecamtiv mecarbil.

Authors:  Aaron Snoberger; Bipasha Barua; Jennifer L Atherton; Henry Shuman; Eva Forgacs; Yale E Goldman; Donald A Winkelmann; E Michael Ostap
Journal:  Elife       Date:  2021-02-19       Impact factor: 8.140

Review 5.  Myosin modulators: emerging approaches for the treatment of cardiomyopathies and heart failure.

Authors:  Sharlene M Day; Jil C Tardiff; E Michael Ostap
Journal:  J Clin Invest       Date:  2022-03-01       Impact factor: 14.808

Review 6.  Critical Evaluation of Current Hypotheses for the Pathogenesis of Hypertrophic Cardiomyopathy.

Authors:  Marko Ušaj; Luisa Moretto; Alf Månsson
Journal:  Int J Mol Sci       Date:  2022-02-16       Impact factor: 5.923

7.  Structural basis for drug-induced allosteric changes to human β-cardiac myosin motor activity.

Authors:  Donald A Winkelmann; Eva Forgacs; Matthew T Miller; Ann M Stock
Journal:  Nat Commun       Date:  2015-08-06       Impact factor: 14.919
  7 in total

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