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Items: 1 to 20 of 295

1.

Contractile dysfunction irrespective of the mutant protein in human hypertrophic cardiomyopathy with normal systolic function.

van Dijk SJ, Paalberends ER, Najafi A, Michels M, Sadayappan S, Carrier L, Boontje NM, Kuster DW, van Slegtenhorst M, Dooijes D, dos Remedios C, ten Cate FJ, Stienen GJ, van der Velden J.

Circ Heart Fail. 2012 Jan;5(1):36-46. doi: 10.1161/CIRCHEARTFAILURE.111.963702. Epub 2011 Dec 16.

2.

Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction.

van Dijk SJ, Dooijes D, dos Remedios C, Michels M, Lamers JM, Winegrad S, Schlossarek S, Carrier L, ten Cate FJ, Stienen GJ, van der Velden J.

Circulation. 2009 Mar 24;119(11):1473-83. doi: 10.1161/CIRCULATIONAHA.108.838672. Epub 2009 Mar 9.

3.

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

Sequeira V, Wijnker PJ, Nijenkamp LL, Kuster DW, Najafi A, Witjas-Paalberends ER, Regan JA, Boontje N, Ten Cate FJ, Germans T, Carrier L, Sadayappan S, van Slegtenhorst MA, Zaremba R, Foster DB, Murphy AM, Poggesi C, Dos Remedios C, Stienen GJ, Ho CY, Michels M, van der Velden J.

Circ Res. 2013 May 24;112(11):1491-505. doi: 10.1161/CIRCRESAHA.111.300436. Epub 2013 Mar 18. Erratum in: Circ Res. 2013 Sep 27;113(8):e87.

4.

Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy.

Witjas-Paalberends ER, Piroddi N, Stam K, van Dijk SJ, Oliviera VS, Ferrara C, Scellini B, Hazebroek M, ten Cate FJ, van Slegtenhorst M, dos Remedios C, Niessen HW, Tesi C, Stienen GJ, Heymans S, Michels M, Poggesi C, van der Velden J.

Cardiovasc Res. 2013 Aug 1;99(3):432-41. doi: 10.1093/cvr/cvt119. Epub 2013 May 13.

5.

Contractile dysfunction in a mouse model expressing a heterozygous MYBPC3 mutation associated with hypertrophic cardiomyopathy.

Barefield D, Kumar M, de Tombe PP, Sadayappan S.

Am J Physiol Heart Circ Physiol. 2014 Mar;306(6):H807-15. doi: 10.1152/ajpheart.00913.2013. Epub 2014 Jan 24.

6.

Increased myofilament Ca2+ sensitivity and diastolic dysfunction as early consequences of Mybpc3 mutation in heterozygous knock-in mice.

Fraysse B, Weinberger F, Bardswell SC, Cuello F, Vignier N, Geertz B, Starbatty J, Krämer E, Coirault C, Eschenhagen T, Kentish JC, Avkiran M, Carrier L.

J Mol Cell Cardiol. 2012 Jun;52(6):1299-307. doi: 10.1016/j.yjmcc.2012.03.009. Epub 2012 Mar 23.

7.

Impact of systolic dysfunction in genotyped hypertrophic cardiomyopathy.

Fujino N, Konno T, Hayashi K, Hodatsu A, Fujita T, Tsuda T, Nagata Y, Kawashiri MA, Ino H, Yamagishi M.

Clin Cardiol. 2013 Mar;36(3):160-5. doi: 10.1002/clc.22082. Epub 2012 Nov 29.

8.

A hypertrophic cardiomyopathy-associated MYBPC3 mutation common in populations of South Asian descent causes contractile dysfunction.

Kuster DW, Govindan S, Springer TI, Martin JL, Finley NL, Sadayappan S.

J Biol Chem. 2015 Feb 27;290(9):5855-67. doi: 10.1074/jbc.M114.607911. Epub 2015 Jan 12.

PMID:
25583989
9.

Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy.

Lakdawala NK, Thune JJ, Colan SD, Cirino AL, Farrohi F, Rivero J, McDonough B, Sparks E, Orav EJ, Seidman JG, Seidman CE, Ho CY.

Circ Cardiovasc Genet. 2012 Oct 1;5(5):503-10. doi: 10.1161/CIRCGENETICS.112.962761. Epub 2012 Sep 4.

10.

Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy.

Ho CY, Carlsen C, Thune JJ, Havndrup O, Bundgaard H, Farrohi F, Rivero J, Cirino AL, Andersen PS, Christiansen M, Maron BJ, Orav EJ, Køber L.

Circ Cardiovasc Genet. 2009 Aug;2(4):314-21. doi: 10.1161/CIRCGENETICS.109.862128. Epub 2009 Jun 19.

11.

Haploinsufficiency of MYBPC3 exacerbates the development of hypertrophic cardiomyopathy in heterozygous mice.

Barefield D, Kumar M, Gorham J, Seidman JG, Seidman CE, de Tombe PP, Sadayappan S.

J Mol Cell Cardiol. 2015 Feb;79:234-43. doi: 10.1016/j.yjmcc.2014.11.018. Epub 2014 Nov 25.

12.

Contractile abnormalities and altered drug response in engineered heart tissue from Mybpc3-targeted knock-in mice.

Stöhr A, Friedrich FW, Flenner F, Geertz B, Eder A, Schaaf S, Hirt MN, Uebeler J, Schlossarek S, Carrier L, Hansen A, Eschenhagen T.

J Mol Cell Cardiol. 2013 Oct;63:189-98. doi: 10.1016/j.yjmcc.2013.07.011. Epub 2013 Jul 26.

13.

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.

Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ, Ackerman MJ.

J Am Coll Cardiol. 2004 Nov 2;44(9):1903-10.

14.

Normal passive viscoelasticity but abnormal myofibrillar force generation in human hypertrophic cardiomyopathy.

Hoskins AC, Jacques A, Bardswell SC, McKenna WJ, Tsang V, dos Remedios CG, Ehler E, Adams K, Jalilzadeh S, Avkiran M, Watkins H, Redwood C, Marston SB, Kentish JC.

J Mol Cell Cardiol. 2010 Nov;49(5):737-45. doi: 10.1016/j.yjmcc.2010.06.006. Epub 2010 Jul 6.

15.

Preserved cross-bridge kinetics in human hypertrophic cardiomyopathy patients with MYBPC3 mutations.

van Dijk SJ, Boontje NM, Heymans MW, Ten Cate FJ, Michels M, Dos Remedios C, Dooijes D, van Slegtenhorst MA, van der Velden J, Stienen GJ.

Pflugers Arch. 2014 Aug;466(8):1619-33. doi: 10.1007/s00424-013-1391-0. Epub 2013 Nov 2.

PMID:
24186209
16.

MicroRNA transcriptome profiling in cardiac tissue of hypertrophic cardiomyopathy patients with MYBPC3 mutations.

Kuster DW, Mulders J, Ten Cate FJ, Michels M, Dos Remedios CG, da Costa Martins PA, van der Velden J, Oudejans CB.

J Mol Cell Cardiol. 2013 Dec;65:59-66. doi: 10.1016/j.yjmcc.2013.09.012. Epub 2013 Sep 29.

PMID:
24083979
17.
18.

Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations.

Olivotto I, Girolami F, Sciagrà R, Ackerman MJ, Sotgia B, Bos JM, Nistri S, Sgalambro A, Grifoni C, Torricelli F, Camici PG, Cecchi F.

J Am Coll Cardiol. 2011 Aug 16;58(8):839-48. doi: 10.1016/j.jacc.2011.05.018.

19.

Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.

Girolami F, Ho CY, Semsarian C, Baldi M, Will ML, Baldini K, Torricelli F, Yeates L, Cecchi F, Ackerman MJ, Olivotto I.

J Am Coll Cardiol. 2010 Apr 6;55(14):1444-53. doi: 10.1016/j.jacc.2009.11.062.

20.

Hypertrophic cardiomyopathy in a Portuguese population: mutations in the myosin-binding protein C gene.

Cardim N, Perrot A, Santos S, Morgado P, Pádua M, Ferreira S, Reis RP, Monteiro C, Ferreira T, Correia JM, Osterziel KJ.

Rev Port Cardiol. 2005 Dec;24(12):1463-76. English, Portuguese.

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