Perturbed length-dependent activation in human hypertrophic cardiomyopathy with missense sarcomeric gene mutations.

Sequeira, Vasco; Wijnker, Paul J M; Nijenkamp, Louise L A M; Kuster, Diederik W D; Najafi, Aref; Witjas-Paalberends, E Rosalie; Regan, Jessica A; Boontje, Nicky; Ten Cate, Folkert J; Germans, Tjeerd; Carrier, Lucie; Sadayappan, Sakthivel; van Slegtenhorst, Marjon A; Zaremba, Ruud; Foster, D Brian; Murphy, Anne M; Poggesi, Corrado; Dos Remedios, Cris; Stienen, Ger J M; Ho, Carolyn Y; Michels, Michelle; van der Velden, Jolanda

Sequeira, Vasco; Wijnker, Paul J M; Nijenkamp, Louise L A M; Kuster, Diederik W D; Najafi, Aref; Witjas-Paalberends, E Rosalie; Regan, Jessica A; Boontje, Nicky; Ten Cate, Folkert J; Germans, Tjeerd; Carrier, Lucie; Sadayappan, Sakthivel; van Slegtenhorst, Marjon A; Zaremba, Ruud; Foster, D Brian; Murphy, Anne M; Poggesi, Corrado; Dos Remedios, Cris; Stienen, Ger J M; Ho, Carolyn Y; Michels, Michelle; van der Velden, Jolanda.

Affiliation

Sequeira V; Laboratory for Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam, the Netherlands. v.sequeiraoliveira@vumc.nl

Circ Res ; 112(11): 1491-505, 2013 May 24.

Article in En | MEDLINE | ID: mdl-23508784

Subject(s)

Cardiomyopathy, Hypertrophic/genetics; Cardiomyopathy, Hypertrophic/pathology; Myofibrils/pathology; Myofibrils/physiology; Sarcomeres/pathology; Sarcomeres/physiology; Adolescent; Adult; Aged; Animals; Calcium/metabolism; Cardiac Myosins/genetics; Cardiomyopathy, Hypertrophic/physiopathology; Carrier Proteins/genetics; Cyclic AMP-Dependent Protein Kinases/metabolism; Female; Humans; Isometric Contraction/physiology; MAP Kinase Kinase Kinases/genetics; Male; Mice; Middle Aged; Mutation, Missense; Myocardial Contraction/physiology; Myocardium/metabolism; Myocardium/pathology; Myosin Heavy Chains/genetics; Phosphorylation/physiology; Protein Serine-Threonine Kinases; Tropomyosin/genetics; Troponin T/genetics; Young Adult

Key words

calcium; cardiomyopathy; contractility; hypertrophy; myocardium

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Full text: 1 Database: MEDLINE Main subject: Sarcomeres / Cardiomyopathy, Hypertrophic / Myofibrils Limits: Adolescent / Adult / Aged / Animals / Female / Humans / Male / Middle aged Language: En Year: 2013 Type: Article

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