Literature DB >> 11748309

Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations.

P S Andersen, O Havndrup, H Bundgaard, J C Moolman-Smook, L A Larsen, J Mogensen, P A Brink, A D Børglum, V A Corfield, K Kjeldsen, J Vuust, M Christiansen.   

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Year:  2001        PMID： 11748309      PMCID： PMC1734772          DOI： 10.1136/jmg.38.12.e43

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


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  37 in total

1.  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

2.  Familial hypertrophic cardiomyopathy can be characterized by a specific pattern of orientation fluctuations of actin molecules .

Authors:  J Borejdo; D Szczesna-Cordary; P Muthu; N Calander
Journal:  Biochemistry       Date:  2010-06-29       Impact factor: 3.162

3.  Gene expression patterns in transgenic mouse models of hypertrophic cardiomyopathy caused by mutations in myosin regulatory light chain.

Authors:  Wenrui Huang; Katarzyna Kazmierczak; Zhiqun Zhou; Vanessa Aguiar-Pulido; Giri Narasimhan; Danuta Szczesna-Cordary
Journal:  Arch Biochem Biophys       Date:  2016-02-22       Impact factor: 4.013

4.  Effect of a myosin regulatory light chain mutation K104E on actin-myosin interactions.

Authors:  D Duggal; J Nagwekar; R Rich; W Huang; K Midde; R Fudala; H Das; I Gryczynski; D Szczesna-Cordary; J Borejdo
Journal:  Am J Physiol Heart Circ Physiol       Date:  2015-03-13       Impact factor: 4.733

Review 5.  Pseudophosphorylation of cardiac myosin regulatory light chain: a promising new tool for treatment of cardiomyopathy.

Authors:  Sunil Yadav; Danuta Szczesna-Cordary
Journal:  Biophys Rev       Date:  2017-01-25

Review 6.  Molecular mechanisms of cardiomyopathy phenotypes associated with myosin light chain mutations.

Authors:  Wenrui Huang; Danuta Szczesna-Cordary
Journal:  J Muscle Res Cell Motil       Date:  2015-09-18       Impact factor: 2.698

7.  A point mutation in the regulatory light chain reduces the step size of skeletal muscle myosin.

Authors:  Jennifer J Sherwood; Guillermina S Waller; David M Warshaw; Susan Lowey
Journal:  Proc Natl Acad Sci U S A       Date:  2004-07-15       Impact factor: 11.205

Review 8.  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

9.  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

10.  Hypertrophic cardiomyopathy associated Lys104Glu mutation in the myosin regulatory light chain causes diastolic disturbance in mice.

Authors:  Wenrui Huang; Jingsheng Liang; Katarzyna Kazmierczak; Priya Muthu; Divya Duggal; Gerrie P Farman; Lars Sorensen; Iraklis Pozios; Theodore P Abraham; Jeffrey R Moore; Julian Borejdo; Danuta Szczesna-Cordary
Journal:  J Mol Cell Cardiol       Date:  2014-06-30       Impact factor: 5.000
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