MYBPC3

Summary

Gene Symbol: MYBPC3
Description: myosin binding protein C, cardiac
Alias: CMD1MM, CMH4, FHC, LVNC10, MYBP-C, myosin-binding protein C, cardiac-type, C-protein, cardiac muscle isoform, truncated cardiac myosin-binding protein C
Species: human
Products:     MYBPC3

Top Publications

  1. Ababou A, Gautel M, Pfuhl M. Dissecting the N-terminal myosin binding site of human cardiac myosin-binding protein C. Structure and myosin binding of domain C2. J Biol Chem. 2007;282:9204-15 pubmed
    ..We expect that this model will stimulate future research to further refine the details of this interaction and their importance for cardiomyopathy. ..
  2. Saltzman A, Mancini Dinardo D, Li C, Chung W, Ho C, Hurst S, et al. Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy. Circ Res. 2010;106:1549-52 pubmed publisher
    The myosin-binding protein C isoform 3 (MYBPC3) variant Arg502Trp has been identified in multiple hypertrophic cardiomyopathy (HCM) cases, but compelling evidence to support or refute the pathogenicity of this variant is lacking...
  3. Van Driest S, Vasile V, Ommen S, Will M, Tajik A, Gersh B, et al. Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. J Am Coll Cardiol. 2004;44:1903-10 pubmed
    We sought to determine the frequency and phenotype of mutations in myosin binding protein C (MYBPC3) in a large outpatient cohort of patients with hypertrophic cardiomyopathy (HCM) seen at our tertiary referral center...
  4. Schaub M, Hefti M, Zuellig R, Morano I. Modulation of contractility in human cardiac hypertrophy by myosin essential light chain isoforms. Cardiovasc Res. 1998;37:381-404 pubmed
  5. Niimura H, Bachinski L, Sangwatanaroj S, Watkins H, Chudley A, McKenna W, et al. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med. 1998;338:1248-57 pubmed
    ..Clinical screening in adult life may be warranted for members of families characterized by hypertrophic cardiomyopathy. ..
  6. Jääskeläinen P, Kuusisto J, Miettinen R, Kärkkäinen P, Kärkkäinen S, Heikkinen S, et al. Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland. J Mol Med (Berl). 2002;80:412-22 pubmed
    ..Kuopio University Hospital region in eastern Finland for variants in the cardiac myosin-binding protein C gene ( MYBPC3)...
  7. Ratti J, Rostkova E, Gautel M, Pfuhl M. Structure and interactions of myosin-binding protein C domain C0: cardiac-specific regulation of myosin at its neck?. J Biol Chem. 2011;286:12650-8 pubmed publisher
    ..This novel interaction is disrupted by several cardiomyopathy-linked mutations in the MYBPC3 gene...
  8. Cardim N, Perrot A, Santos S, Morgado P, Pádua M, Ferreira S, et al. Hypertrophic cardiomyopathy in a Portuguese population: mutations in the myosin-binding protein C gene. Rev Port Cardiol. 2005;24:1463-76 pubmed
    ..most common genetic heart disease and is often a consequence of mutations in the myosin-binding protein C gene (MYBPC3). Until now, however, no systematic review has been published on mutations of this gene in a Portuguese population...
  9. Wang S, Zou Y, Fu C, Xu X, Wang J, Song L, et al. Worse prognosis with gene mutations of beta-myosin heavy chain than myosin-binding protein C in Chinese patients with hypertrophic cardiomyopathy. Clin Cardiol. 2008;31:114-8 pubmed publisher
    ..evolution of patients with gene mutations of beta-myosin heavy chain (MYH7) and myosin binding protein C (MYBPC3) in Chinese. To prospectively investigate whether different gene mutations confer distinct prognosis...

More Information

Publications68

  1. Ortiz M, Rodriguez Garcia M, Hermida Prieto M, Fernandez X, Veira E, Barriales Villa R, et al. A homozygous MYBPC3 gene mutation associated with a severe phenotype and a high risk of sudden death in a family with hypertrophic cardiomyopathy. Rev Esp Cardiol. 2009;62:572-5 pubmed
  2. Starr R, Offer G. The interaction of C-protein with heavy meromyosin and subfragment-2. Biochem J. 1978;171:813-6 pubmed
    ..Examination of mixtures of C-protein with heavy meromyosin or subfragment-2 or subfragment-1 in the analytical ultracentrifuge shows that there is also a binding site for C-protein in the subfragment-2 region of the tail. ..
  3. El Armouche A, Pohlmann L, Schlossarek S, Starbatty J, Yeh Y, Nattel S, et al. Decreased phosphorylation levels of cardiac myosin-binding protein-C in human and experimental heart failure. J Mol Cell Cardiol. 2007;43:223-9 pubmed
    ..Thus, the compromised contractile function of the failing heart might be in part attributable to reduced cMyBP-C phosphorylation levels. ..
  4. Page S, Kounas S, Syrris P, Christiansen M, Frank Hansen R, Andersen P, et al. Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome. Circ Cardiovasc Genet. 2012;5:156-66 pubmed publisher
    Small selected cohort studies suggest that mutations in the cardiac myosin binding protein-C (MYBPC3) gene cause late-onset, clinically benign hypertrophic cardiomyopathy (HCM)...
  5. Michels M, Soliman O, Phefferkorn J, Hoedemaekers Y, Kofflard M, Dooijes D, et al. Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers. Eur Heart J. 2009;30:2593-8 pubmed publisher
    ..04). Myosin Binding Protein C (MYBPC3) mutation carriers were affected at higher age than Myosin Heavy Chain (MYH7) mutation carriers (P = 0.01)...
  6. Erdmann J, Daehmlow S, Wischke S, Senyuva M, Werner U, Raible J, et al. Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. Clin Genet. 2003;64:339-49 pubmed
    ..We, therefore, screened HCM patients for mutations in six sarcomeric genes: myosin-binding protein C3 (MYBPC3), MYH7, cardiac troponin T (TNNT2), alpha-tropomyosin (TPM1), cardiac troponin I (TNNI3), and cardiac troponin C (..
  7. Girolami F, Ho C, Semsarian C, Baldi M, Will M, Baldini K, et al. Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. J Am Coll Cardiol. 2010;55:1444-53 pubmed publisher
    ..gene mutations by direct deoxyribonucleic acid sequencing of 8 genes, including myosin binding protein C (MYBPC3), beta-myosin heavy chain (MYH7), regulatory and essential light chains (MYL2, MYL3), troponin-T (TNNT2), troponin-..
  8. Tong C, Stelzer J, Greaser M, Powers P, Moss R. Acceleration of crossbridge kinetics by protein kinase A phosphorylation of cardiac myosin binding protein C modulates cardiac function. Circ Res. 2008;103:974-82 pubmed publisher
    ..Conversely, cMyBP-C(tWT) hearts performed similar to WT. Thus, PKA phosphorylation of cMyBP-C accelerates crossbridge kinetics and loss of this regulation leads to cardiac dysfunction. ..
  9. Alders M, Jongbloed R, Deelen W, van den Wijngaard A, Doevendans P, ten Cate F, et al. The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. Eur Heart J. 2003;24:1848-53 pubmed
    ..We initially screened 22 Dutch index patients for mutations in the MYBPC3 gene, which revealed four different mutations in 14 patients...
  10. Van Dijk S, Dooijes D, dos Remedios C, Michels M, Lamers J, Winegrad S, et al. Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction. Circulation. 2009;119:1473-83 pubmed publisher
    Mutations in the MYBPC3 gene, encoding cardiac myosin-binding protein C (cMyBP-C), are a frequent cause of familial hypertrophic cardiomyopathy...
  11. Niimura H, Patton K, McKenna W, Soults J, Maron B, Seidman J, et al. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation. 2002;105:446-51 pubmed
    ..Rather, mutations in cardiac myosin binding protein-C, troponin I, and alpha-cardiac myosin heavy chain caused elderly-onset hypertrophic cardiomyopathy. ..
  12. Winegrad S. Cardiac myosin binding protein C. Circ Res. 1999;84:1117-26 pubmed
  13. Maron B, Niimura H, Casey S, Soper M, Wright G, Seidman J, et al. Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations. J Am Coll Cardiol. 2001;38:315-21 pubmed
    ..These observations alter prevailing perceptions regarding the HCM clinical spectrum and family screening strategies and further characterize the evolution of LVH in this disease. ..
  14. Govindan S, McElligott A, Muthusamy S, Nair N, Barefield D, Martin J, et al. Cardiac myosin binding protein-C is a potential diagnostic biomarker for myocardial infarction. J Mol Cell Cardiol. 2012;52:154-64 pubmed publisher
    ..The presence of elevated levels of cMyBP-C in the blood provides a promising novel biomarker able to accurately rule in MI, thus aiding in the further assessment of ischemic heart disease...
  15. Carrier L, Bonne G, Bährend E, Yu B, Richard P, Niel F, et al. Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy. Circ Res. 1997;80:427-34 pubmed
    ..The gene encoding cardiac MyBP-C (MYBPC3) in humans is located on chromosome 11p11...
  16. Bonne G, Carrier L, Richard P, Hainque B, Schwartz K. Familial hypertrophic cardiomyopathy: from mutations to functional defects. Circ Res. 1998;83:580-93 pubmed
  17. Morita H, Rehm H, Menesses A, McDonough B, Roberts A, Kucherlapati R, et al. Shared genetic causes of cardiac hypertrophy in children and adults. N Engl J Med. 2008;358:1899-908 pubmed publisher
    ..99+/-6.12 years). We sequenced eight genes: MYH7, MYBPC3, TNNT2, TNNI3, TPM1, MYL3, MYL2, and ACTC...
  18. Rodriguez Garcia M, Monserrat L, Ortiz M, Fernandez X, Cazón L, Núñez L, et al. Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy. BMC Med Genet. 2010;11:67 pubmed publisher
    b>MyBPC3 mutations are amongst the most frequent causes of hypertrophic cardiomyopathy, however, its prevalence varies between populations. They have been associated with mild and late onset disease expression...
  19. Gautel M, Zuffardi O, Freiburg A, Labeit S. Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction?. EMBO J. 1995;14:1952-60 pubmed
    ..2 in humans, and is therefore in a region of physical linkage to subsets of familial hypertrophic cardiomyopathy (FHC). This makes cardiac MyBP-C a candidate gene for chromosome 11-associated FHC.
  20. Millat G, Bouvagnet P, Chevalier P, Dauphin C, Jouk P, Da Costa A, et al. Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. Eur J Med Genet. 2010;53:261-7 pubmed publisher
    ..of 192 unrelated HCM patients using denaturing high-performance liquid chromatography/sequencing analysis of the MYBPC3, MYH7, TNNT2 and TNNI3 genes...
  21. Oliva Sandoval M, Ruiz Espejo F, Monserrat L, Hermida Prieto M, Sabater M, Garcia Molina E, et al. Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3. Heart. 2010;96:1980-4 pubmed publisher
    Mutations in the cardiac myosin-binding protein C (MYBPC3) gene are frequently found as a cause of hypertrophic cardiomyopathy (HCM). However, only a few studies have analysed genotype-phenotype correlations in small series of patients...
  22. Bonne G, Carrier L, Bercovici J, Cruaud C, Richard P, Hainque B, et al. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet. 1995;11:438-40 pubmed
    ..2 (ref. 8), making this gene a good candidate for the fourth locus, CMH4 (ref. 5)...
  23. Garcia Castro M, Coto E, Reguero J, Berrazueta J, Alvarez V, Alonso B, et al. [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy]. Rev Esp Cardiol. 2009;62:48-56 pubmed
    ..Our aim was to determine the frequency of mutations in the sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in a cohort of Spanish patients with hypertrophic cardiomyopathy...
  24. Moolman Smook J, Flashman E, de Lange W, Li Z, Corfield V, Redwood C, et al. Identification of novel interactions between domains of Myosin binding protein-C that are modulated by hypertrophic cardiomyopathy missense mutations. Circ Res. 2002;91:704-11 pubmed
    ..We suggest that the HCM mutations act by altering the cMyBPC collar, indicating its importance in thick filament structure and regulation. ..
  25. Dhandapany P, Sadayappan S, Xue Y, Powell G, Rani D, Nallari P, et al. A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia. Nat Genet. 2009;41:187-91 pubmed publisher
    ..Here, we describe a deletion of 25 bp in the gene encoding cardiac myosin binding protein C (MYBPC3) that is associated with heritable cardiomyopathies and an increased risk of heart failure in Indian populations (..
  26. Marston S, Copeland O, Jacques A, Livesey K, Tsang V, McKenna W, et al. Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency. Circ Res. 2009;105:219-22 pubmed publisher
    ..The potential exceptions are mutations in the MYBPC3 gene (encoding cardiac myosin-binding protein-C [MyBP-C]), which frequently encode truncated proteins...
  27. Rottbauer W, Gautel M, Zehelein J, Labeit S, Franz W, Fischer C, et al. Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization Of cardiac transcript and protein. J Clin Invest. 1997;100:475-82 pubmed
  28. Lu Y, Kwan A, Jeffries C, Guss J, Trewhella J. The motif of human cardiac myosin-binding protein C is required for its Ca2+-dependent interaction with calmodulin. J Biol Chem. 2012;287:31596-607 pubmed publisher
  29. Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian C. Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. J Med Genet. 2005;42:e59 pubmed
    ..This highlights the importance of screening the entire panel of HCM genes even after a single mutation has been identified. ..
  30. Song L, Zou Y, Wang J, Wang Z, Zhen Y, Lou K, et al. Mutations profile in Chinese patients with hypertrophic cardiomyopathy. Clin Chim Acta. 2005;351:209-16 pubmed
    ..patients with HCM (proband 51, sporadic 49) by sequencing the three most frequent HCM-causing genes (MYH7, MYBPC3, TNNT2)...
  31. Marston S, Copeland O, Gehmlich K, Schlossarek S, Carrier L, Carrrier L. How do MYBPC3 mutations cause hypertrophic cardiomyopathy?. J Muscle Res Cell Motil. 2012;33:75-80 pubmed publisher
    It is well established that MYBPC3 mutations are the most common cause of hypertrophic cardiomyopathy, accounting for about half of identified mutations...
  32. Nanni L, Pieroni M, Chimenti C, Simionati B, Zimbello R, Maseri A, et al. Hypertrophic cardiomyopathy: two homozygous cases with "typical" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy. Biochem Biophys Res Commun. 2003;309:391-8 pubmed
    ..Mutational analysis of the beta-myosin heavy chain (MYH7), myosin-binding protein C (MYBPC3), and cardiac troponin T (TNNT2) genes demonstrated eight mutations affecting MYH7 or MYBPC3 gene, five of which ..
  33. Liu W, Liu W, Hu D, Zhu T, Ma Z, Yang J, et al. Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy. Am J Cardiol. 2013;112:585-9 pubmed publisher
    ..Direct gene sequencing of ?-myosin heavy chain (MYH7), myosin binding protein-C (MYBPC3), and cardiac troponin T (TNNT2) was performed in 136 unrelated Chinese HC patients...
  34. Watkins H, Conner D, Thierfelder L, Jarcho J, MacRae C, McKenna W, et al. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet. 1995;11:434-7 pubmed
    ..Two further FHC loci have been mapped to chromosomes 11p13-q13 (CMH4, ref. 6) and 7q3 (ref. 7)...
  35. Govada L, Carpenter L, da Fonseca P, Helliwell J, Rizkallah P, Flashman E, et al. Crystal structure of the C1 domain of cardiac myosin binding protein-C: implications for hypertrophic cardiomyopathy. J Mol Biol. 2008;378:387-97 pubmed publisher
    ..55 A. Mutations associated with hypertrophic cardiomyopathy are clustered at one end towards the C-terminus, close to the important C1C2 linker, where they alter the structural integrity of this region and its interactions. ..
  36. Tanjore R, Rangaraju A, Kerkar P, Calambur N, Nallari P. MYBPC3 gene variations in hypertrophic cardiomyopathy patients in India. Can J Cardiol. 2008;24:127-30 pubmed
    ..Cardiac myosin-binding protein C (MyBPC) is the predominant myosin-binding protein isoform in the heart muscle. One hundred forty-seven mutations have been detected in MYBPC3, accounting for 15% of all HCM cases.
  37. Flashman E, Redwood C, Moolman Smook J, Watkins H. Cardiac myosin binding protein C: its role in physiology and disease. Circ Res. 2004;94:1279-89 pubmed
    ..We also speculate on the mechanisms by which hypertrophic cardiomyopathy-causing truncation and missense mutations affect the normal functioning of the sarcomere. ..
  38. Andersen P, Havndrup O, Bundgaard H, Larsen L, Vuust J, Pedersen A, et al. Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency. Eur J Hum Genet. 2004;12:673-7 pubmed
    Mutations in the MYBPC3 gene, encoding the sarcomere protein myosin-binding protein C, are among the most frequent causes of autosomal dominant familial hypertrophic cardiomyopathy (FHC)...
  39. Idowu S, Gautel M, Perkins S, Pfuhl M. Structure, stability and dynamics of the central domain of cardiac myosin binding protein C (MyBP-C): implications for multidomain assembly and causes for cardiomyopathy. J Mol Biol. 2003;329:745-61 pubmed
    ..Secondly two point mutations linked to familial hypertrophic cardiomyopathy (FHC) have been identified in this domain...
  40. Erdmann J, Raible J, Maki Abadi J, Hummel M, Hammann J, Wollnik B, et al. Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2001;38:322-30 pubmed
    ..genetic features of hypertrophic cardiomyopathy (HCM) caused by mutations in the myosin-binding protein C gene (MYBPC3) in 110 consecutive, unrelated patients and family members of European descent...
  41. Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. 2003;107:2227-32 pubmed
    ..The entire coding sequences of 9 genes (MYH7, MYBPC3, TNNI3, TNNT2, MYL2, MYL3, TPM1, ACTC, andTNNC1) were analyzed in 197 unrelated index cases with familial or ..
  42. Zahka K, Kalidas K, Simpson M, Cross H, Keller B, Galambos C, et al. Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish. Heart. 2008;94:1326-30 pubmed publisher
    ..This region contained the MYBPC3 gene, which has previously been associated with autosomal dominant adult-onset HCM...
  43. Ehlermann P, Weichenhan D, Zehelein J, Steen H, Pribe R, Zeller R, et al. Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene. BMC Med Genet. 2008;9:95 pubmed publisher
    Mutations in MYBPC3 encoding myosin binding protein C belong to the most frequent causes of hypertrophic cardiomyopathy (HCM) and may also lead to dilated cardiomyopathy (DCM)...
  44. Sarikas A, Carrier L, Schenke C, Doll D, Flavigny J, Lindenberg K, et al. Impairment of the ubiquitin-proteasome system by truncated cardiac myosin binding protein C mutants. Cardiovasc Res. 2005;66:33-44 pubmed
    Most cardiac myosin binding protein C (cMyBP-C) gene mutations causing familial hypertrophic cardiomyopathy (FHC) result in C-terminal truncated proteins. However, truncated cMyBP-Cs were undetectable in myocardial tissue of FHC patients...
  45. Freiburg A, Gautel M. A molecular map of the interactions between titin and myosin-binding protein C. Implications for sarcomeric assembly in familial hypertrophic cardiomyopathy. Eur J Biochem. 1996;235:317-23 pubmed
    ..This disorder is therefore likely to be the result of thick-filament misassembly by abolishing the ternary interaction of titin, myosin and MyBP-C. ..
  46. Gruen M, Gautel M. Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C. J Mol Biol. 1999;286:933-49 pubmed
    ..In this region, several mutations in beta-myosin are associated with FHC; however, their molecular implications remained unclear...
  47. Copeland O, Sadayappan S, Messer A, Steinen G, van der Velden J, Marston S. Analysis of cardiac myosin binding protein-C phosphorylation in human heart muscle. J Mol Cell Cardiol. 2010;49:1003-11 pubmed publisher
    ..Phosphorylation at Ser-282 was not proportional to the number of sites available. The 2P band contained 302 but not 273; the 3P band contained 273 but not 302. ..
  48. Aversa I, Zolea F, Ieranò C, Bulotta S, Trotta A, Faniello M, et al. Epithelial-to-mesenchymal transition in FHC-silenced cells: the role of CXCR4/CXCL12 axis. J Exp Clin Cancer Res. 2017;36:104 pubmed publisher
    ..The heavy subunit (FHC) is provided of a ferroxidase activity and thus performs the key transformation of iron in a non-toxic form...
  49. Shimizu M, Ino H, Yasuda T, Fujino N, Uchiyama K, Mabuchi T, et al. Gene mutations in adult Japanese patients with dilated cardiomyopathy. Circ J. 2005;69:150-3 pubmed
    ..n=72) were screened for the following genes: cardiac beta-myosin heavy chain, cardiac myosin-binding protein C (MYBPC3), regulatory and essential myosin light chains, alpha cardiac actin, alpha tropomyosin, cardiac troponin T, ..
  50. Møller D, Pham T, Gustafsson F, Hedley P, Ersbøll M, Bundgaard H, et al. The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy. Eur J Heart Fail. 2009;11:1031-5 pubmed publisher
  51. Yu B, French J, Carrier L, Jeremy R, McTaggart D, Nicholson M, et al. Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene. J Med Genet. 1998;35:205-10 pubmed
    ..missense changes, although one of the most recent genes to be identified (cardiac myosin binding protein C gene, MYBPC3) has predominantly DNA mutations which produce truncated proteins...
  52. Shaffer J, Wong P, Bezold K, Harris S. Functional differences between the N-terminal domains of mouse and human myosin binding protein-C. J Biomed Biotechnol. 2010;2010:789798 pubmed publisher
    ..These results suggest that species-specific differences between homologous cMyBP-C isoforms confer differential effects that could fine-tune cMyBP-C function in hearts of different species. ..
  53. Krishnamoorthy N, Gajendrarao P, Olivotto I, Yacoub M. Impact of disease-causing mutations on inter-domain interactions in cMyBP-C: a steered molecular dynamics study. J Biomol Struct Dyn. 2017;35:1916-1922 pubmed publisher
    ..Mutations in the gene MYBPC3 coding for cardiac myosin-binding protein-C (cMyBP-C), a multi-domain protein, are the most common cause of ..
  54. Probst S, Oechslin E, Schuler P, Greutmann M, Boyé P, Knirsch W, et al. Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. Circ Cardiovasc Genet. 2011;4:367-74 pubmed publisher
    ..We identified 5 mutations in cardiac myosin-binding protein C (MYBPC3) and 2 mutations in ?-tropomyosin (TPM1) in a cohort of unrelated adult probands with isolated LVNC...
  55. Jääskeläinen P, Helio T, Aalto Setala K, Kaartinen M, Ilveskoski E, Hämäläinen L, et al. Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population. Ann Med. 2013;45:85-90 pubmed publisher
    ..two prevalent founder mutations for HCM in the alpha-tropomyosin (TPM1-D175N) and myosin-binding protein C (MYBPC3-Q1061X) genes have previously been identified in eastern Finland...
  56. de Lange W, Grimes A, Hegge L, Spring A, Brost T, Ralphe J. E258K HCM-causing mutation in cardiac MyBP-C reduces contractile force and accelerates twitch kinetics by disrupting the cMyBP-C and myosin S2 interaction. J Gen Physiol. 2013;142:241-55 pubmed publisher
  57. Chida A, Inai K, Sato H, Shimada E, Nishizawa T, Shimada M, et al. Prognostic predictive value of gene mutations in Japanese patients with hypertrophic cardiomyopathy. Heart Vessels. 2017;32:700-707 pubmed publisher
    ..127 patients with HCM, 31 β-myosin heavy chain (MYH7) mutation carriers, 19 cardiac myosin-binding protein C (MYBPC3) mutation carriers, and 77 mutation non-carriers were analyzed retrospectively...
  58. Moffat A, Redmond G. Is having a family member with chronic health concerns bad for young people's health? Cross-sectional evidence from a national survey of young Australians. BMJ Open. 2017;7:e013946 pubmed publisher
    Young people's perspectives on the association between having a family member with a chronic health concern (FHC) and their own health are under-researched...
  59. Wahab R, Gopalan V, Islam F, Smith R, Qiao B, Lam A. Cellular expression, in-vitro and in-vivo confirmation of GAEC1 oncogenic properties in colon cancer. Eur J Cell Biol. 2017;96:487-495 pubmed publisher
    ..cancer cells (SW480-Stage II, SW48-Stage III and HCT116-Stage IV) when compared to non-neoplastic colon cells (FHC cells) by immunocytochemistry, immunofluorescence, western blot analysis and real-time polymerase chain reaction...