Property Summary

NCBI Gene PubMed Count 176
PubMed Score 270.29
PubTator Score 272.26

Knowledge Summary

Patent

No data available

Expression

Gene RIF (146)

PMID Text
27348999 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.
26869393 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).
26358504 Mutations in MYBPC3 are associated with cardiomyopathy. [Review]
26287277 the phosphorylation pattern of sMyBP-C is differentially regulated in response to age and disease, suggesting that phosphorylation plays important roles in these processes.
26178432 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
26163040 Demonstrate that MYBPC3 gene mutations, revealed by next-generation sequencing, were associated with familial and sporadic restrictive cardiomyopathy phenotype in patients.
26090888 The detection of MYBPC3 mutation, especially the PTC mutation and double-mutation, may serve as a molecular marker for clinical risk stratification of HCM.
25971843 Case Report: double cMyBP-C mutation in a patient with end-stage hypertrophic cardiomyopathy.
25892673 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.
25849606 Characterization of the novel splicing mutations in cardiomyopathy genes MYBPC3 and TNNT2.
25740977 A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life
25552695 This review summarizes evidence that phosphorylation of MyBP-C is a key regulator of cardiac force and contraction.
25512492 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.
25335496 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.
25281569 These results demonstrate that MYBPC3 Val762Asp may be associated with unfavorable hypertrophic cardiomyopathy phenotypes
25123604 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.
25078086 A founder MYBPC3 mutation that arose >550 years ago is the predominant cause of hypertrophic cardiomyopathy in Iceland.
25058872 The structural features of the R502W mutation of myosin bindin protein C are described and discussed.
24835277 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
24736382 Change in the ability of cMyBP-C to bind cardiac actin modified filaments might contribute to the development of disease.
24509847 N-terminal fragment of cardiac myosin-binding protein C (cMyBP-C) impairs myofilament function in human myocardium
24337823 A review of MYBPC3 mutations associated with hypertrophic cardiomyopathy.
24337456 cMyBP-C is released in the blood rapidly after cardiac damage and therefore has the potential to positively mark the onset of myocardial infarction.
24327208 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]
24240729 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]
24186209 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
24083979 Hypertrophic cardiomyopathy patients with MYBPC3 mutations have a specific miRNA expression profile.
23980194 Results show that the E258K mutation in cardiac myosin binding protein C (cMyBP-C) abolishes interaction between N-terminal cMyBP-C and myosin S2 by directly disrupting the cMyBP-C-S2 interface, independent of cMyBP-C phosphorylation.
23870641 G263X mutation of MYBPC3 was found in 7 patients with hypertrophic cardiomyopathy in Asturias, Spain.
23840593 A missense mutation in MYBPC3 causing hypertrophic cardiomyopathy is responsible for a malignant phenotype in homozygotes.
23816408 Association between insertion mutations in the coding sequence of the MYBPC3 gene and development and pathogenesis of hypertrophic cardiomyopathy.
23782526 Somatic mutations in MYH7, MYBPC3, TPM1, TNNT2, and TNNI3 do not represent an important etiologic pathway in HCM.
23711808 In Chinese hypertrophic cardiomyopathy, distribution of mutations was 56%. No statistical difference was identified in patients carrying MYBPC3 mutations with regard to clinical characteristics and outcomes.
23619294 cMyBP-C harbors more phosphorylation sites than previously known, with a total of 17 (9 novel) identified phosphorylation sites in vivo. Most sites were primarily located within the N-terminal side of the protein.
23527136 Three missense mutations can affect structural properties of the domain C1 and surface charge distributions, which could impact the binding of C1 with other sarcomeric proteins thereby affecting contractile function.
23277198 GSK3beta phosphorylation of Ser133 in the linker domain of cMyBP-C may be a novel mechanism to regulate sarcomere kinetics.
23140321 Carriers of the IVS20-2A>G mutation in the MYBPC3 gene were diagnosed later in life than carriers with other mutation in the MYBPC3, MHY7, TNNT2 and TNNI3 genes.
22907696 Our observations show that the combination of a missense (p.Glu258Lys) and a splice-site mutation (IVS25-1G>A) profoundly affects the clinical course.
22801425 CaM may act as a structural conduit that links cMyBP-C with Ca(2+) signaling pathways to help coordinate phosphorylation events and synchronize the multiple interactions between cMyBP-C, myosin, and actin during the heart muscle contraction.
22529996 SNP rs2290149, located in a genetic cluster of MYBPC3 and MADD gene, was found to be associated with diastolic heart failure.
22462493 alpha-tropomyosin-D175N and MYBPC3-Q1061X mutations account for a substantial part of all hypertrophic cardiomyopathy (HCM) cases in the Finnish population. Routine genetic screening of these mutations is warranted in Finnish patients with HCM.
22415774 Results suggest that mutations in MyBP-C do not alter its mean axial distribution along the thick filament.
22314326 only 1 deletion in MYBPC3 was detected in a cohort of 100 French hypertrophic cardiomyopathy patients which confirms that large, multiple-exon deletions and duplications in MYBPC3 do not account for a noteworthy proportion of HCM cases
22296197 a potential early-stage, cardiac-specific biomarker of ischemia-reperfusion injury
22267749 MYMPC3 mutations in families with hypertrophic cardiomyopathy shows marked heterogeneity with incomplete, age-related, and gender specific penetrance.
22057632 MYBPC3 mutations in the hypertrophic cardiomyopathy (Review)
22041450 New insights into the modular organization and flexibility of the N-terminal half of human cardiac myosin binding protein C were deduced from small-angle X-ray scattering and NMR data. study.
22021246 Carriers of the hypertrophic cardiomyopathy MYBPC3 mutation display reduced myocardial work generation in relation to oxygen consumption, in the absence of hypertrophy and flow abnormalities.
21985754 Gln1233ter mutation of MYBPC3 is a true causative mutation for hypertrophic cardiomyopathy.
21971072 this study suggests that cMyBP-C is an easily releasable myofilament protein that is dephosphorylated, degraded and released into the circulation post-MI.
21959974 Four novel mutations in MYBPC3 and one in MYH7 were identified among familial hypertrophic cardiomyopathy patients in India
21915287 The frequency of MYBPC3 DW genotype and D allele was associated with compromised LVEF implying that genetic variants of MYBPC3 encoding mutant structural sarcomere protein could increase susceptibility to left ventricular dysfunction.
21821050 Using electron microscopy and three-dimensional reconstruction, we show that the C0 and the C1 domain can each bind to the same two distinctly different positions on F-actin.
21551322 identified 5 mutations in cardiac myosin-binding protein C (MYBPC3) and 2 mutations in alpha-tropomyosin (TPM1) in a cohort of unrelated adult probands with isolated left ventricular noncompaction cardiomyopathy
21409595 These two individuals may be considered to suffer from a combination of both a classical hypertrophic cardiomyopathy (due to the two mutations in MYBPC3) and a glycogen storage cardiomyopathy (due to the mutation in PRKAG2).
21297165 Data identify a novel interaction between cardiac-specific Ig-like domain C0 and the regulatory light chain of myosin, thus placing the N terminus of the protein in proximity to the motor domain of myosin.
21257752 cMyBP-C is a critical nodal point that has both important structural and signaling roles and whose modifications are known to cause significant human cardiac disease.
21165360 the MYBPC3 gene is a common pathogenic gene responsible for HCM in Chinese patients
21088121 The MYBPC3 IVS23+1G-->A mutation is associated with middle-age onset disease and poor outcome, with a significant proportion of patients developing systolic impairment and a high sudden death risk profile.
20975235 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20850451 A detailed quantitative analysis of MyBP-C phosphorylation in heart tissue in situ, is reported.
20800588 Observational study of genetic testing. (HuGE Navigator)
20740642 the mean methylation level of CpGs was significantly higher in MYBPC3 than MYBPC2.
20689143 Mutation in MYBPC3 gene is associated with hypertrophic cardiomyopathy.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20624503 Observational study of gene-disease association. (HuGE Navigator)
20542340 The R820W mutation in the MYBPC3 gene causes both hypertrophic cardiomyopathy and left ventricular non-compaction in homozygous human carriers.
20474083 Observational study of genetic testing. (HuGE Navigator)
20433692 Observational study of gene-disease association. (HuGE Navigator)
20414521 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20379391 Species-specific differences between homologous cMyBP-C isoforms confer differential effects that could fine-tune cMyBP-C function in hearts of different species.
20378854 The MYBPC3 Arg502Trp conveys a 340-fold increased risk for HCM by 45 years of age, when more than 50% of carriers have overt disease. HCM prognosis worsens when MYBPC3 Arg502Trp occurs in the setting of another sarcomere protein gene mutation.
20378854 Observational study of gene-disease association. (HuGE Navigator)
20359594 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20350521 The novel mutation S297X in MYBPC3 causes hypertrophic cardiomyopathy in a broad range of ages and heterogeneous clinical manifestations, though the clinical course in patients with this mutation seems to be benign.
20215591 The mutations in MYBPC3 cause when a genetic cause can be identified, which has estimated to occur in 42% of hypertrophic cardiomyopathy.
20215591 Observational study of gene-disease association. (HuGE Navigator)
20201939 Results indicate that the MYBPC3 deletion is primarily found among Indian populations and that its distribution is consistent with genome-wide patterns of variation in India.
20201939 Observational study of genotype prevalence. (HuGE Navigator)
20193176 The novel S236G mutation in MYBPC3 gene was a hot-spot mutation in Chinese patients with hypertrophic cardiomyopathy.
20193176 Observational study of gene-disease association. (HuGE Navigator)
20151718 Report for the first time that there are four PKA phosphorylation sites in both murine and human M-domains.
20128375 cMYBPC3 might be the disease-causing gene in Chinese patients with hypertrophic cardiomyopathy.
20031618 Observational study of gene-disease association. (HuGE Navigator)
20021930 MYBPC3 mutation is presented in a small portion of Han Chinese patients with hypertrophic cardiomyopathy.
20021930 Observational study of gene-disease association. (HuGE Navigator)
20019025 Predictive genetic testing in hypertrophic cardiomyopathy families and cardiological evaluation on the presence of HCM and risk factors for sudden cardiac death are justified in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers
20019025 Observational study of genetic testing. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19875404 Observational study of gene-disease association. (HuGE Navigator)
19853701 Observational study of gene-disease association. (HuGE Navigator)
19850579 atrogin-1 specifically targets truncated M7t-cMyBP-C, but not WT-cMyBP-C, for proteasomal degradation and that MuRF1 indirectly reduces cMyBP-C levels by regulating the transcription of myosin heavy chain.
19808356 increased myofilament protein levels in patients with MYBPC3-mediated HCM suggest a poison peptide mechanism
19808356 Observational study of gene-disease association. (HuGE Navigator)
19666645 Observational study of gene-disease association. (HuGE Navigator)
19666196 Large deletions and duplications in MYBPC3 do not appear to play a major role in the pathogenesis of hypertrophic cardiomyopathy.
19574547 The lowered relative level of full length protein in both truncation and missense MYBPC3 mutations argues strongly that haploinsufficiency is sufficient to cause hypertrophic cardiomyopathy.
19406073 description of a family in which some experienced early development of systolic & diastolic dysfunction & others experienced sudden death at young age; identified a novel homozygous mutation (IVS6+5G>A) in MYBPC3 gene that explained the phenotype
19403693 A new ligand of obscurin at the M-band, MyBP-C slow variant-1 and suggest that their interaction contributes to the assembly of M-and A-bands, is identified.
19356534 Diastolic abnormalities as the first feature of hypertrophic cardiomyopathy in Dutch myosin-binding protein C founder mutations.
19356534 Observational study of gene-disease association. (HuGE Navigator)
19293840 Observational study of gene-disease association. (HuGE Navigator)
19273718 Frameshift MYBPC3 mutations cause haploinsufficiency, deranged phosphorylation of contractile proteins, and reduced maximal force-generating capacity of cardiomyocytes
19151713 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.
19151713 Observational study of gene-disease association. (HuGE Navigator)
19150014 Observational study of gene-disease association. (HuGE Navigator)
19149795 Observational study of gene-disease association. (HuGE Navigator)
19035361 MYBPC3 mutation was found involved in hypertrophic cardiomyopathy.
18957093 MYBPC3 mutations can be associated with cardiac events such as progressive heart failure, stroke and sudden death even at younger age
18929575 the missense MYBPC3 mutation E334K destabilizes its protein and may contribute to cardiac dysfunction in hypertrophic cardiomyopathy through impairment of the ubiquitin-proteasome system.
18929575 Observational study of gene-disease association. (HuGE Navigator)
18803133 Mutations in MYBPC3 should be considered a frequent cause of hypertrophic cardiomyopathy in Poland.
18803133 Observational study of gene-disease association. (HuGE Navigator)
18802026 PKA phosphorylation of cMyBP-C accelerates crossbridge kinetics and loss of this regulation leads to cardiac dysfunction.
18573260 MyBP-C is a highly phosphorylated protein in vivo; diminished MyBP-C phosphorylation is a feature of both end-stage heart failure and hypertrophic cardiomyopathy.
18560154 Diffraction data from the C1 domain of cMyBP-C were extended to 1.30 A resolution, where the of the diffraction data crosses 2.0, using intense synchrotron radiation.
18513529 Observational study of gene-disease association. (HuGE Navigator)
18467358 Homozygous mutations in the MYBPC3 gene have been identified as the cause of severe infantile HCM among the Amish population.
18403758 Observational study of gene-disease association. (HuGE Navigator)
18383048 Observational study of gene-disease association. (HuGE Navigator)
18374358 The structure of the immunoglobulin-like C1 domain of MyBP-C was solved by X-ray crystallography to a resolution of 1.55 A.
18337725 Four mutations in the MYBPC3 gene are found to be associated with hypertrophic cardiomyopathy; all four result in premature termination codons, which suggests that haploinsufficiency is a pathogenic mechanism of this type of mutation.
18337725 Observational study of gene-disease association. (HuGE Navigator)
18273486 Screening of the exons in hypertrophic cardiomyopathy revealed two variations - one novel frame shift mutation in exon 19 at the nucleotide position 11577-11578 and one novel single nucleotide polymorphism (SNP) in codon 1093 of exon 31.
17937428 identified a novel homozygous mutation, c.3330 + 2T > G, in the splice-donor site of MYBPC3 intron 30, resulting in skipping of the 140-bp exon 30, which led to a frame shift and premature stop codon in exon 31; phenotype found in Amish communities
17560599 The compromised contractile function of the failing heart might be in part attributable to reduced cMyBP-C phosphorylation levels.
17192269 lution structure of one part of the N-terminal binding site, the third immunoglobulin domain of the cardiac isoform of human MyBP-C (cC2) together with a model of its interaction with myosin
16754800 Observational study of gene-disease association. (HuGE Navigator)
16651346 mutation in the TNNT2 gene with aggravating mutation in the MYBPC3 gene causing restrictive cardiomyopathy in a child
16566405 Observational study of genotype prevalence. (HuGE Navigator)
16199542 Observational study of gene-disease association. (HuGE Navigator)
16087648 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
16004897 role of MYBPC3 mutations in hypertrophic cardiomyopathy; three new mutations in three families (V771M, V342D, and A627V)were found; findings suggest a dosage effect for mutations at the MYPBC3 gene
15769446 Truncated cMyBP-C resulting from human MYBPC3 mutations are rapidly and quantitatively degraded by the ubiquitin-proteasome system, which in turn may competitively inhibit breakdown of other proteasome substrates.
15737656 Observational study of gene-disease association. (HuGE Navigator)
15737656 Our results point out that GG genotype of MYBPC3 might be a genetic risk factor for the expression of cardiac hypertrophic phenotype in the patients with hypertrophic cardiomyopathy.
15671604 Observational study of genotype prevalence. (HuGE Navigator)
15563892 Observational study of gene-disease association. (HuGE Navigator)
15519027 Observational study of gene-disease association. (HuGE Navigator)
15519027 MYBPC3-HCM virtually mimicked the phenotype of those with mutations in the beta-myosin heavy chain. Patients with multiple mutations had the most severe phenotype.
15213454 NMR assignment of domain C1 of the N-terminal myosin-binding site of human cardiac myosin binding protein C
15000344 Haplotype analysis suggested that the two most common variants (MYBPC3-Gln1061X and TPM1-Asp175Asn) were founder mutations.
14563344 Observational study of genotype prevalence. (HuGE Navigator)
12110947 Results suggest that the cardiac myosin-binding protein C gene (MYBPC3) is the predominant gene for hypertrophic cardiomyopathy in eastern Finland.
11955864 Left ventricular hypertrophy can be a late manifestation of hypertrophic cardiomyopathy due to cardiac myosin-binding protein C mutations.

AA Sequence

MPEPGKKPVSAFSKKPRSVEVAAGSPAVFEAETERAGVKVRWQRGGSDISASNKYGLATEGTRHTLTVRE      1 - 70
VGPADQGSYAVIAGSSKVKFDLKVIEAEKAEPMLAPAPAPAEATGAPGEAPAPAAELGESAPSPKGSSSA     71 - 140
ALNGPTPGAPDDPIGLFVMRPQDGEVTVGGSITFSARVAGASLLKPPVVKWFKGKWVDLSSKVGQHLQLH    141 - 210
DSYDRASKVYLFELHITDAQPAFTGSYRCEVSTKDKFDCSNFNLTVHEAMGTGDLDLLSAFRRTSLAGGG    211 - 280
RRISDSHEDTGILDFSSLLKKRDSFRTPRDSKLEAPAEEDVWEILRQAPPSEYERIAFQYGVTDLRGMLK    281 - 350
RLKGMRRDEKKSTAFQKKLEPAYQVSKGHKIRLTVELADHDAEVKWLKNGQEIQMSGSKYIFESIGAKRT    351 - 420
LTISQCSLADDAAYQCVVGGEKCSTELFVKEPPVLITRPLEDQLVMVGQRVEFECEVSEEGAQVKWLKDG    421 - 490
VELTREETFKYRFKKDGQRHHLIINEAMLEDAGHYALCTSGGQALAELIVQEKKLEVYQSIADLMVGAKD    491 - 560
QAVFKCEVSDENVRGVWLKNGKELVPDSRIKVSHIGRVHKLTIDDVTPADEADYSFVPEGFACNLSAKLH    561 - 630
FMEVKIDFVPRQEPPKIHLDCPGRIPDTIVVVAGNKLRLDVPISGDPAPTVIWQKAITQGNKAPARPAPD    631 - 700
APEDTGDSDEWVFDKKLLCETEGRVRVETTKDRSIFTVEGAEKEDEGVYTVTVKNPVGEDQVNLTVKVID    701 - 770
VPDAPAAPKISNVGEDSCTVQWEPPAYDGGQPILGYILERKKKKSYRWMRLNFDLIQELSHEARRMIEGV    771 - 840
VYEMRVYAVNAIGMSRPSPASQPFMPIGPPSEPTHLAVEDVSDTTVSLKWRPPERVGAGGLDGYSVEYCP    841 - 910
EGCSEWVAALQGLTEHTSILVKDLPTGARLLFRVRAHNMAGPGAPVTTTEPVTVQEILQRPRLQLPRHLR    911 - 980
QTIQKKVGEPVNLLIPFQGKPRPQVTWTKEGQPLAGEEVSIRNSPTDTILFIRAARRVHSGTYQVTVRIE    981 - 1050
NMEDKATLVLQVVDKPSPPQDLRVTDAWGLNVALEWKPPQDVGNTELWGYTVQKADKKTMEWFTVLEHYR   1051 - 1120
RTHCVVPELIIGNGYYFRVFSQNMVGFSDRAATTKEPVFIPRPGITYEPPNYKALDFSEAPSFTQPLVNR   1121 - 1190
SVIAGYTAMLCCAVRGSPKPKISWFKNGLDLGEDARFRMFSKQGVLTLEIRKPCPFDGGIYVCRATNLQG   1191 - 1260
EARCECRLEVRVPQ                                                           1261 - 1274
//

Text Mined References (177)

PMID Year Title
27348999 2016 Spectrum of MYBPC3 Gene Mutations in Patients with Hypertrophic Cardiomyopathy, Reporting Two Novel Mutations from North-West of Iran.
26869393 2016 Impact of Genotype on the Occurrence of Atrial Fibrillation in Patients With Hypertrophic Cardiomyopathy.
26358504 2015 Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology.
26287277 2015 Myosin Binding Protein-C Slow Phosphorylation is Altered in Duchenne Dystrophy and Arthrogryposis Myopathy in Fast-Twitch Skeletal Muscles.
26178432 2015 Screening of sarcomere gene mutations in young athletes with abnormal findings in electrocardiography: identification of a MYH7 mutation and MYBPC3 mutations.
26163040 2015 Novel Phenotype-Genotype Correlations of Restrictive Cardiomyopathy With Myosin-Binding Protein C (MYBPC3) Gene Mutations Tested by Next-Generation Sequencing.
26090888 2015 Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing.
25971843 2015 An Investigation of the Molecular Mechanism of Double cMyBP-C Mutation in a Patient with End-Stage Hypertrophic Cardiomyopathy.
25892673 2015 Targeted next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in patients and a cardiomyopathy risk group.
25849606 2015 Functional characterization of putative novel splicing mutations in the cardiomyopathy-causing genes.
25740977 2015 A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life.
25552695 2015 Cardiac MyBP-C regulates the rate and force of contraction in mammalian myocardium.
25512492 2014 Myosin binding protein-C activates thin filaments and inhibits thick filaments in heart muscle cells.
25335496 2015 Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.
25281569 2014 Compound heterozygosity deteriorates phenotypes of hypertrophic cardiomyopathy with founder MYBPC3 mutation: evidence from patients and zebrafish models.
25123604 2015 Gender differences in the clinical features of hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations.
25078086 2014 Nationwide study on hypertrophic cardiomyopathy in Iceland: evidence of a MYBPC3 founder mutation.
25058872 2014 Structural characterization of the C3 domain of cardiac myosin binding protein C and its hypertrophic cardiomyopathy-related R502W mutant.
24835277 2014 Gene-specific increase in the energetic cost of contraction in hypertrophic cardiomyopathy caused by thick filament mutations.
24736382 2014 Altered interactions between cardiac myosin binding protein-C and ?-cardiac actin variants associated with cardiomyopathies.
24509847 2014 Myocardial infarction-induced N-terminal fragment of cardiac myosin-binding protein C (cMyBP-C) impairs myofilament function in human myocardium.
24357727 2014 A meta-analysis of genome-wide association studies identifies ORM1 as a novel gene controlling thrombin generation potential.
24337823 2014 MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction.
24337456 2014 Release kinetics of circulating cardiac myosin binding protein-C following cardiac injury.
24327208 2014 MYBPC3's alternate ending: consequences and therapeutic implications of a highly prevalent 25 bp deletion mutation.
24240729 2014 Cardiac myosin-binding protein C: hypertrophic cardiomyopathy mutations and structure-function relationships.
24186209 2014 Preserved cross-bridge kinetics in human hypertrophic cardiomyopathy patients with MYBPC3 mutations.
24083979 2013 MicroRNA transcriptome profiling in cardiac tissue of hypertrophic cardiomyopathy patients with MYBPC3 mutations.
23980194 2013 E258K HCM-causing mutation in cardiac MyBP-C reduces contractile force and accelerates twitch kinetics by disrupting the cMyBP-C and myosin S2 interaction.
23870641 2013 The G263X MYBPC3 mutation is a common and low-penetrant mutation for hypertrophic cardiomyopathy in the region of Asturias (Northern Spain).
23840593 2013 Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.
23816408 2013 Detection of a large duplication mutation in the myosin-binding protein C3 gene in a case of hypertrophic cardiomyopathy.
23782526 2013 Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy.
23711808 2013 Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy.
23619294 2013 Characterization of the cardiac myosin binding protein-C phosphoproteome in healthy and failing human hearts.
23527136 2013 Molecular modeling of disease causing mutations in domain C1 of cMyBP-C.
23277198 2013 GSK3? phosphorylates newly identified site in the proline-alanine-rich region of cardiac myosin-binding protein C and alters cross-bridge cycling kinetics in human: short communication.
23140321 2012 A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.
22907696 2012 A case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death.
22801425 2012 The motif of human cardiac myosin-binding protein C is required for its Ca2+-dependent interaction with calmodulin.
22529996 2012 Cardiac myosin binding protein C and MAP-kinase activating death domain-containing gene polymorphisms and diastolic heart failure.
22462493 2013 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.
22415774 2012 Axial distribution of myosin binding protein-C is unaffected by mutations in human cardiac and skeletal muscle.
22314326 2012 Molecular characterization of a large MYBPC3 rearrangement in a cohort of 100 unrelated patients with hypertrophic cardiomyopathy.
22296197 2012 Cardiac myosin binding protein-C: a potential early-stage, cardiac-specific biomarker of ischemia-reperfusion injury.
22267749 2012 Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome.
22057632 2012 How do MYBPC3 mutations cause hypertrophic cardiomyopathy?
22041450 2011 Human cardiac myosin binding protein C: structural flexibility within an extended modular architecture.
22021246 2011 Carriers of the hypertrophic cardiomyopathy MYBPC3 mutation are characterized by reduced myocardial efficiency in the absence of hypertrophy and microvascular dysfunction.
21985754 2011 The Gln1233ter mutation of the myosin binding protein C gene: causative mutation or innocent polymorphism in patients with hypertrophic cardiomyopathy?
21971072 2012 Cardiac myosin binding protein-C is a potential diagnostic biomarker for myocardial infarction.
21959974 2012 A low prevalence of MYH7/MYBPC3 mutations among familial hypertrophic cardiomyopathy patients in India.
21915287 2011 Association of 25 bp deletion in MYBPC3 gene with left ventricle dysfunction in coronary artery disease patients.
21821050 2011 The N-terminal domains of myosin binding protein C can bind polymorphically to F-actin.
21569246 2011 Myomegalin is a novel A-kinase anchoring protein involved in the phosphorylation of cardiac myosin binding protein C.
21551322 2011 Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype.
21409595 2011 A case of familial hypertrophic cardiomyopathy emphasizes the importance of parallel screening of multiple disease genes.
21297165 2011 Structure and interactions of myosin-binding protein C domain C0: cardiac-specific regulation of myosin at its neck?
21257752 2011 Signaling and myosin-binding protein C.
21165360 2010 Two novel mutations of the MYBPC3 gene identified in Chinese families with hypertrophic cardiomyopathy.
21088121 2010 Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3.
20975235 2010 Impact of renin-angiotensin system polymorphisms on development of systolic dysfunction in hypertrophic cardiomyopathy. Evidence from a study of genotyped patients.
20850451 2010 Analysis of cardiac myosin binding protein-C phosphorylation in human heart muscle.
20800588 2010 Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.
20740642 2011 Differential methylation of CpG sites in two isoforms of myosin binding protein C, an important hypertrophic cardiomyopathy gene.
20689143 2010 Identification of a novel MYBPC3 gene variant in a patient with hypertrophic cardiomyopathy.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20624503 Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.
20542340 2010 The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans.
20474083 2010 A novel custom resequencing array for dilated cardiomyopathy.
20433692 2010 Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy.
20414521 2010 [Study of mutations causing hypertrophic cardiomyopathy in a group of patients from Espirito Santo, Brazil].
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20379391 2010 Functional differences between the N-terminal domains of mouse and human myosin binding protein-C.
20378854 2010 Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy.
20359594 2010 Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.
20350521 2010 A novel cardiac myosin-binding protein C S297X mutation in hypertrophic cardiomyopathy.
20215591 2010 Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.
20201939 2010 Limited distribution of a cardiomyopathy-associated variant in India.
20193176 2009 [A novel hot-spot mutation S236G in the cardiac myosin binding protein C gene in Chinese patient with hypertrophic cardiomyopathy].
20151718 2010 Identification of novel protein kinase A phosphorylation sites in the M-domain of human and murine cardiac myosin binding protein-C using mass spectrometry analysis.
20128375 2009 [Link between cardiac myosin binding protein-C gene mutation of Pro1208fs and Gly507 Arg and hypertrophic cardiomyopathy in Chinese patients].
20031618 2009 Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.
20021930 2009 [Novel MYBPC3 mutations in Chinese patients with hypertrophic cardiomyopathy].
20019025 2010 The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19875404 2009 The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy.
19853701 2009 Histologic characterization of hypertrophic cardiomyopathy with and without myofilament mutations.
19850579 2010 Atrogin-1 and MuRF1 regulate cardiac MyBP-C levels via different mechanisms.
19808356 2009 Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.
19666645 2009 Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers.
19666196 2010 The role of large gene deletions and duplications in MYBPC3 and TNNT2 in patients with hypertrophic cardiomyopathy.
19574547 2009 Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency.
19406073 2009 A homozygous MYBPC3 gene mutation associated with a severe phenotype and a high risk of sudden death in a family with hypertrophic cardiomyopathy.
19403693 2009 Obscurin interacts with a novel isoform of MyBP-C slow at the periphery of the sarcomeric M-band and regulates thick filament assembly.
19356534 2009 Diastolic abnormalities as the first feature of hypertrophic cardiomyopathy in Dutch myosin-binding protein C founder mutations.
19293840 2009 The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy.
19273718 2009 Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction.
19151713 2009 A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia.
19150014 2009 [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].
19149795 2009 Impact of QT variables on clinical outcome of genotyped hypertrophic cardiomyopathy.
19035361 2009 Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives.
18957093 2008 Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene.
18929575 2008 Ubiquitin-proteasome system impairment caused by a missense cardiac myosin-binding protein C mutation and associated with cardiac dysfunction in hypertrophic cardiomyopathy.
18926831 2008 Myosin binding protein C positioned to play a key role in regulation of muscle contraction: structure and interactions of domain C1.
18803133 2008 Selected mutations in the myosin binding protein C gene in the Polish population of patients with hypertrophic cardiomyopathy.
18802026 2008 Acceleration of crossbridge kinetics by protein kinase A phosphorylation of cardiac myosin binding protein C modulates cardiac function.
18573260 2008 Myosin binding protein C phosphorylation in normal, hypertrophic and failing human heart muscle.
18560154 2008 An investigation into the protonation states of the C1 domain of cardiac myosin-binding protein C.
18513529 2008 Relationship between sex, shape, and substrate in hypertrophic cardiomyopathy.
18467358 2008 Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish.
18403758 2008 Shared genetic causes of cardiac hypertrophy in children and adults.
18383048 2008 Worse prognosis with gene mutations of beta-myosin heavy chain than myosin-binding protein C in Chinese patients with hypertrophic cardiomyopathy.
18374358 2008 Crystal structure of the C1 domain of cardiac myosin binding protein-C: implications for hypertrophic cardiomyopathy.
18337725 2008 Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations.
18273486 2008 MYBPC3 gene variations in hypertrophic cardiomyopathy patients in India.
18201573 2008 Support for a trimeric collar of myosin binding protein C in cardiac and fast skeletal muscle, but not in slow skeletal muscle.
17937428 2007 Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy.
17560599 2007 Decreased phosphorylation levels of cardiac myosin-binding protein-C in human and experimental heart failure.
17192269 2007 Dissecting the N-terminal myosin binding site of human cardiac myosin-binding protein C. Structure and myosin binding of domain C2.
16754800 2006 Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study.
16651346 2006 Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene.
16566405 2005 Hypertrophic cardiomyopathy in a Portuguese population: mutations in the myosin-binding protein C gene.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16199542 2005 Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
16087648 2005 Gene-specific modifying effects of pro-LVH polymorphisms involving the renin-angiotensin-aldosterone system among 389 unrelated patients with hypertrophic cardiomyopathy.
16004897 2005 Hypertrophic cardiomyopathy linked to homozygosity for a new mutation in the myosin-binding protein C gene (A627V) suggests a dosage effect.
15769446 2005 Impairment of the ubiquitin-proteasome system by truncated cardiac myosin binding protein C mutants.
15737656 2005 MYBPC3 polymorphism is a modifier for expression of cardiac hypertrophy in patients with hypertrophic cardiomyopathy.
15671604 2005 Gene mutations in adult Japanese patients with dilated cardiomyopathy.
15601779 2004 Muscle-specific RING finger 1 is a bona fide ubiquitin ligase that degrades cardiac troponin I.
15582318 2004 Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.
15563892 2005 Mutations profile in Chinese patients with hypertrophic cardiomyopathy.
15519027 2004 Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15213454 2004 Sequence specific assignment of domain C1 of the N-terminal myosin-binding site of human cardiac myosin binding protein C (MyBP-C).
15166115 2004 Cardiac myosin binding protein C: its role in physiology and disease.
15114369 2004 Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency.
15000344 2004 Genetics of hypertrophic cardiomyopathy in eastern Finland: few founder mutations with benign or intermediary phenotypes.
14563344 2003 The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.
12974739 2003 Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
12951062 2003 Hypertrophic cardiomyopathy: two homozygous cases with "typical" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy.
12818575 2003 Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.
12787675 2003 Structure, stability and dynamics of the central domain of cardiac myosin binding protein C (MyBP-C): implications for multidomain assembly and causes for cardiomyopathy.
12721663 2003 Cloning and characterization of a novel cardiac-specific kinase that interacts specifically with cardiac troponin I.
12707239 2003 Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
12628722 2003 A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12379228 2002 Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.
12358155 2002 Screening the proteins that interact with calpain in a human heart cDNA library using a yeast two-hybrid system.
12202917 2002 Functional and spectroscopic studies of a familial hypertrophic cardiomyopathy mutation in Motif X of cardiac myosin binding protein-C.
12110947 2002 Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland.
11815426 2002 Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.
11499719 2001 Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.
11499718 2001 Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations.
10736283 2000 A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance.
10672519 1999 The interface between MyBP-C and myosin: site-directed mutagenesis of the CX myosin-binding domain of MyBP-C.
10521296 1999 The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.
10424815 1999 Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy.
10347086 1999 Cardiac myosin binding protein C.
10024460 1999 Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C.
9742053 1998 Familial hypertrophic cardiomyopathy: from mutations to functional defects.
9614495 1998 Modulation of contractility in human cardiac hypertrophy by myosin essential light chain isoforms.
9562578 1998 Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy.
9541115 1998 Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy.
9541104 1998 Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene.
9218526 1997 Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization Of cardiac transcript and protein.
9048664 1997 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.
8791411 1996 Contractile protein mutations and heart disease.
8631348 1996 A molecular map of the interactions between titin and myosin-binding protein C. Implications for sarcomeric assembly in familial hypertrophic cardiomyopathy.
8358441 1993 Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11.
7744002 1995 Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction?
7493026 1995 Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy.
7493025 1995 Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy.
6448079 1980 Effect of C-protein on actomyosin ATPase.
352343 1978 The interaction of C-protein with heavy meromyosin and subfragment-2.