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Items: 1 to 20 of 107

1.

Introducing a series of topical special issues of the Journal of Muscle Research and Cell Motility: MYBPC3 special issue editorial.

Marston SB, Gautel M.

J Muscle Res Cell Motil. 2012 May;33(1):1-3. doi: 10.1007/s10974-012-9296-7. No abstract available.

PMID:
22555918
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.

Cardiac myosin binding protein C phosphorylation in cardiac disease.

Kuster DW, Bawazeer AC, Zaremba R, Goebel M, Boontje NM, van der Velden J.

J Muscle Res Cell Motil. 2012 May;33(1):43-52. doi: 10.1007/s10974-011-9280-7. Epub 2011 Nov 30. Review.

4.

Cardiac and skeletal muscle expression of mutant β-myosin heavy chains, degree of functional impairment and phenotypic heterogeneity in hypertrophic cardiomyopathy.

Di Domenico M, Casadonte R, Ricci P, Santini M, Frati G, Rizzo A, Carratelli CR, Lamberti M, Parrotta E, Quaresima B, Faniello CM, Costanzo F, Cuda G.

J Cell Physiol. 2012 Oct;227(10):3471-6. doi: 10.1002/jcp.24047.

PMID:
22213221
5.

Familial hypertrophic cardiomyopathic myosin mutations that affect the actin-myosin interaction.

Roopnarine O.

Results Probl Cell Differ. 2002;36:75-86. Review. No abstract available.

PMID:
11892286
6.

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.

D'Amico A, Graziano C, Pacileo G, Petrini S, Nowak KJ, Boldrini R, Jacques A, Feng JJ, Porfirio B, Sewry CA, Santorelli FM, Limongelli G, Bertini E, Laing N, Marston SB.

Neuromuscul Disord. 2006 Oct;16(9-10):548-52. Epub 2006 Sep 1.

PMID:
16945537
7.

In vitro rescue study of a malignant familial hypertrophic cardiomyopathy phenotype by pseudo-phosphorylation of myosin regulatory light chain.

Muthu P, Liang J, Schmidt W, Moore JR, Szczesna-Cordary D.

Arch Biochem Biophys. 2014 Jun 15;552-553:29-39. doi: 10.1016/j.abb.2013.12.011. Epub 2013 Dec 26.

8.

Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland.

Jääskeläinen P, Kuusisto J, Miettinen R, Kärkkäinen P, Kärkkäinen S, Heikkinen S, Peltola P, Pihlajamäki J, Vauhkonen I, Laakso M.

J Mol Med (Berl). 2002 Jul;80(7):412-22. Epub 2002 Apr 11.

PMID:
12110947
9.

A Novel Founder Mutation in MYBPC3: Phenotypic Comparison With the Most Prevalent MYBPC3 Mutation in Spain.

Sabater-Molina M, Saura D, García-Molina Sáez E, González-Carrillo J, Polo L, Pérez-Sánchez I, Olmo MD, Oliva-Sandoval MJ, Barriales-Villa R, Carbonell P, Pascual-Figal D, Gimeno JR.

Rev Esp Cardiol (Engl Ed). 2017 Feb;70(2):105-114. doi: 10.1016/j.rec.2016.06.020. Epub 2016 Oct 28. English, Spanish.

PMID:
28029522
10.

Signaling and myosin-binding protein C.

James J, Robbins J.

J Biol Chem. 2011 Mar 25;286(12):9913-9. doi: 10.1074/jbc.R110.171801. Epub 2011 Jan 21. Review.

11.

The structural and functional effects of the familial hypertrophic cardiomyopathy-linked cardiac troponin C mutation, L29Q.

Robertson IM, Sevrieva I, Li MX, Irving M, Sun YB, Sykes BD.

J Mol Cell Cardiol. 2015 Oct;87:257-69. doi: 10.1016/j.yjmcc.2015.08.017. Epub 2015 Sep 1.

12.

A Murine Hypertrophic Cardiomyopathy Model: The DBA/2J Strain.

Zhao W, Zhao T, Chen Y, Zhao F, Gu Q, Williams RW, Bhattacharya SK, Lu L, Sun Y.

PLoS One. 2015 Aug 4;10(8):e0133132. doi: 10.1371/journal.pone.0133132. eCollection 2015.

13.

Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3.

Oliva-Sandoval MJ, Ruiz-Espejo F, Monserrat L, Hermida-Prieto M, Sabater M, García-Molina E, Ortiz M, Rodríguez-García MI, Núñez L, Gimeno JR, Castro-Beiras A, Valdés M.

Heart. 2010 Dec;96(24):1980-4. doi: 10.1136/hrt.2010.200402.

PMID:
21088121
14.

Gene symbol: MYBPC3. Disease: Hypertrophic cardiomyopathy.

Golubenko MV, Puzyrev KV, Puzyrev VP, Pavlukova EN, Makeeva OA, Vosberg HP.

Hum Genet. 2004 Mar;114(4):406. No abstract available.

PMID:
15046084
15.

Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C.

Tajsharghi H, Leren TP, Abdul-Hussein S, Tulinius M, Brunvand L, Dahl HM, Oldfors A.

J Med Genet. 2010 Aug;47(8):575-7. doi: 10.1136/jmg.2009.072710. Epub 2009 Oct 26.

PMID:
19858127
16.

Hypertrophic cardiomyopathy-related beta-myosin mutations cause highly variable calcium sensitivity with functional imbalances among individual muscle cells.

Kirschner SE, Becker E, Antognozzi M, Kubis HP, Francino A, Navarro-López F, Bit-Avragim N, Perrot A, Mirrakhimov MM, Osterziel KJ, McKenna WJ, Brenner B, Kraft T.

Am J Physiol Heart Circ Physiol. 2005 Mar;288(3):H1242-51. Epub 2004 Nov 18.

PMID:
15550524
17.

Myosin binding protein C: structural abnormalities in familial hypertrophic cardiomyopathy.

Oakley CE, Hambly BD, Curmi PM, Brown LJ.

Cell Res. 2004 Apr;14(2):95-110. Review.

18.

E22K mutation of RLC that causes familial hypertrophic cardiomyopathy in heterozygous mouse myocardium: effect on cross-bridge kinetics.

Dumka D, Talent J, Akopova I, Guzman G, Szczesna-Cordary D, Borejdo J.

Am J Physiol Heart Circ Physiol. 2006 Nov;291(5):H2098-106. Epub 2006 Jun 2.

PMID:
16751284
19.

Mybpc3 gene therapy for neonatal cardiomyopathy enables long-term disease prevention in mice.

Mearini G, Stimpel D, Geertz B, Weinberger F, Krämer E, Schlossarek S, Mourot-Filiatre J, Stoehr A, Dutsch A, Wijnker PJ, Braren I, Katus HA, Müller OJ, Voit T, Eschenhagen T, Carrier L.

Nat Commun. 2014 Dec 2;5:5515. doi: 10.1038/ncomms6515.

PMID:
25463264
20.

Axial distribution of myosin binding protein-C is unaffected by mutations in human cardiac and skeletal muscle.

Vydyanath A, Gurnett CA, Marston S, Luther PK.

J Muscle Res Cell Motil. 2012 May;33(1):61-74. doi: 10.1007/s10974-012-9286-9. Epub 2012 Mar 14.

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