Recombinant Human Myosin-binding protein C, cardiac-type (MYBPC3), partial

1. Of the 52 hypertrophic cardiomyopathy patients 11 (21.2%) had MYBPC3 variants. PMID: 29386531
2. MYBPC3 does not seem to play a role in anthracycline induced cardiotoxicity. PMID: 29716714
3. Mutation in MYBPC3 was identified as Restrictive Cardiomyopathy - causing mutation. PMID: 27339502
4. pathogenic gene mutations in LMNA and MYBPC3 alter RNA splicing and may have a role in heart disease PMID: 28679633
5. MYBPC3 mutation carriers had a high frequency of ventricular arrhythmia and syncope. An absence of family history of sudden death (SD) and past history of syncope are useful prognostic factors in patients with hypertrophic cardiomyopathy. MYH7 and MYBPC3 mutations did not significantly influence prognosis compared to non-carriers. The patients with the MYBPC3 mutation should be closely followed for the possibility of SD. PMID: 27885498
6. Replacement Fibrosis was most abundantly present in the hearts with a MYBPC3 mutation that first presented with a Hypertrophic Cardiomyopathy. PMID: 28365402
7. Mutations in the gene MYBPC3 coding for cardiac myosin-binding protein-C (cMyBP-C), a multi-domain protein, are the most common cause of hypertrophic cardiomyopathy ..This molecular insight suggests that key HCM-causing mutations might significantly modify the native affinity required for the assembly of the domains in cMyBP-C, which is essential for normal cardiac function. PMID: 27267291
8. Five of the 19 patients (26.3%) had either a pathogenic variant or a likely pathogenic variant in MYBPC3 (n=1), MYH7 (n=1), RYR2 (n=2), or TNNT2 (n=1). All five variants were missense variants that have been reported previously in patients with channelopathies or cardiomyopathies PMID: 28202948
9. Double heterozygotes for mutations in DSP and MYBPC3 showed a variable clinical presentation of arrhythmogenic cardiomyopathy and hypertrophic cardiomyopathy. PMID: 28699631
10. Data provide evidence that MYBPC3 mutations constitute the preeminent cause of hypertrophic cardiomyopathy (HCM) and that they are phenotypically indistinguishable from HCM caused by MYH7 mutations. PMID: 29121657
11. In children and young adults, a 2-parameter 12-lead A-ECG score is retrospectively significantly more sensitive and specific than pooled, age-specific conventional ECG criteria for detecting MYBPC3-HCM and in distinguishing such patients from healthy controls, including endurance-trained athletes. PMID: 27061026
12. mutations associated with a reduced super-relaxed state in hypertrophic cardiomyopathy PMID: 28658286
13. Study showed that CACNB2 is a possible candidate hypertrophy-modifying gene contributing to disease variability of MYBPC3-associated familial hypertrophic cardiomyopathy PMID: 28614222
14. The authors demonstrate myosin tail (S2)-dependent functional regulation of actin-activated human beta-cardiac myosin ATPase. In addition, they show that both S2 and MyBP-C bind to S1 and that phosphorylation of either S1 or MyBP-C weakens these interactions. PMID: 28481356
15. Our study supports that mutations in MYH7 and MYBPC3 should be the first focus of moleculargenetic analysis in HCM, and that mutations in TNNT2 have a low prevalence in Brazilian population. All mutations detected were missense mutations, whereas two mutations in MYH7 had not been described before. PMID: 27737317
16. These findings point to the critical role of MYBPC3 during sarcomere assembly in cardiac myocyte differentiation and suggest developmental influences of MYBPC3 truncating mutations on the mature hypertrophic phenotype. PMID: 27620334
17. The p.Pro108Alafs*9 mutation is associated with HCM, high penetrance, and disease onset in middle age PMID: 28029522
18. Study shows lack of phenotypic differences between MYH7- and MYBPC3-associated hypertrophic cardiomyopathy when assessed by cardiac magnetic resonance imaging. PMID: 28193612
19. MYBPC3 and MYH7 were the most common mutated genes, accounting for 27% of the total Hypertrophic Cardiomyopathy patients and 83% of the putative mutations in the main sarcomeric genes. PMID: 27574918
20. MYBPC3 gene mutation is associated with Early-Onset Hypertrophic Cardiomyopathy. PMID: 27483260
21. The results showed that MYBPC3 25-bp deletion polymorphism was significantly associated with elevated risk of left ventricular dysfunction (LVD), while TTN 18 bp I/D, TNNT2 5 bp I/D and myospryn K2906N polymorphisms did not show any significant association with LVD. PMID: 27350668
22. we report a patient presenting with a complex phenotype consisting of severe, adult-onset, dilated cardiomyopathy, hearing loss and developmental delay, in which exome sequencing revealed two genetic variants that are inherited from a healthy mother: a variant, in MYBPC3, that is associated with hereditary cardiomyopathy. PMID: 27173948
23. 5 out of 102 (4.9%) athletes carried mutations: a heterozygous MYH7 Glu935Lys mutation, a heterozygous MYBPC3 Arg160Trp mutation and another heterozygous MYBPC3 Thr1046Met mutation, all of which had been reported as HCM-associated mutations PMID: 26178432
24. the phosphorylation pattern of sMyBP-C is differentially regulated in response to age and disease, suggesting that phosphorylation plays important roles in these processes. PMID: 26287277
25. a significant role of MYBPC3 gene mutations in Hypertrophic cardiomyopathy(HCM) disease and can be used for pre-symptomatic diagnosis of at risk family members of affected individuals. PMID: 27348999
26. Atrial fibrillation occurred in 74 patients with hypertrophic cardiomyopathy (31%), but with no difference among genotype groups (31% in MYBPC3, 37% in MYH7 and 18% in other genotypes, p = 0.15). PMID: 26869393
27. The detection of MYBPC3 mutation, especially the PTC mutation and double-mutation, may serve as a molecular marker for clinical risk stratification of HCM. PMID: 26090888
28. Demonstrate that MYBPC3 gene mutations, revealed by next-generation sequencing, were associated with familial and sporadic restrictive cardiomyopathy phenotype in patients. PMID: 26163040
29. Data indicate that homozygous or compound heterozygous truncating pathogenic myosin binding protein C (MYBPC3) mutations cause severe neonatal cardiomyopathy with features of left ventricular noncompaction and septal defects. PMID: 25335496
30. Case Report: double cMyBP-C mutation in a patient with end-stage hypertrophic cardiomyopathy. PMID: 25971843
31. Mutations in the MYBPC3 and CASQ2 genes and six combinations between loci in the MYBPC3, MYH7 and CASQ2 genes were responsible for cardiomyopathy risk in a studied cohort. PMID: 25892673
32. Although females with MYBPC3 mutations showed later onset of hypertrophic cardiomyopathy, female patients were more symptomatic at diagnosis and had more frequent heart failure events once they had developed hypertrophy. PMID: 25123604
33. A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life PMID: 25740977
34. Mutations in MYBPC3 are associated with cardiomyopathy. [Review] PMID: 26358504
35. Characterization of the novel splicing mutations in cardiomyopathy genes MYBPC3 and TNNT2. PMID: 25849606
36. Gene-specific severity of cardiac abnormalities may underlie differences in disease onset and suggests that early initiation of metabolic treatment may be beneficial, in particular, in myosin heavy chain (MYH7) mutation carriers PMID: 24835277
37. These results show that the N-terminal region of MyBP-C stabilizes the ON state of thin filaments and the OFF state of thick filaments and lead to a novel hypothesis for the physiological role of MyBP-C in the regulation of cardiac contractility. PMID: 25512492
38. This review summarizes evidence that phosphorylation of MyBP-C is a key regulator of cardiac force and contraction. PMID: 25552695
39. at the cMyBP-C expression levels in hypertrophic cardiomyopathy patients, cross-bridge kinetics are preserved and that the depressed maximal force development is not explained by perturbation of cross-bridge kinetics PMID: 24186209
40. A founder MYBPC3 mutation that arose >550 years ago is the predominant cause of hypertrophic cardiomyopathy in Iceland. PMID: 25078086
41. These results demonstrate that MYBPC3 Val762Asp may be associated with unfavorable hypertrophic cardiomyopathy phenotypes PMID: 25281569
42. A review of MYBPC3 mutations associated with hypertrophic cardiomyopathy. PMID: 24337823
43. The structural features of the R502W mutation of myosin bindin protein C are described and discussed. PMID: 25058872
44. In this review, we will address what is known of cMyBP-C's role as a regulator of contraction as well as its role in HCM[review] PMID: 24240729
45. cMyBP-C is a key regulator of cardiac contractility. Although mutations in the gene encoding cMyBP-C are a leading cause of hypertrophic cardiomyopathy, little is known about the molecular mechanisms underlying the disease process[review] PMID: 24327208
46. Change in the ability of cMyBP-C to bind cardiac actin modified filaments might contribute to the development of disease. PMID: 24736382
47. G263X mutation of MYBPC3 was found in 7 patients with hypertrophic cardiomyopathy in Asturias, Spain. PMID: 23870641
48. Hypertrophic cardiomyopathy patients with MYBPC3 mutations have a specific miRNA expression profile. PMID: 24083979
49. N-terminal fragment of cardiac myosin-binding protein C (cMyBP-C) impairs myofilament function in human myocardium PMID: 24509847
50. cMyBP-C is released in the blood rapidly after cardiac damage and therefore has the potential to positively mark the onset of myocardial infarction. PMID: 24337456

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HGNC: 7551

OMIM: 115197

KEGG: hsa:4607

STRING: 9606.ENSP00000442795

UniGene: Hs.524906