Citations for
1MYBPC3
MYBPC3 deficiency in cardiac fibroblasts drives their activation and contributes to fibrosis
Zou X, Ouyang H, Lin F, Zhang H, Yang Y, Pang D, Han R, Tang X.
Cell Death Dis Nov 10;13(11):948. doi: 10.1038/s41419-022-05403-6. 2022
2MYBPC3, MYH4
Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy
Suay-Corredera C, Pricolo MR, Herrero-Galán E, Velázquez-Carreras D, Sánchez-Ortiz D, García-Giustiniani D, Delgado J, Galano-Frutos JJ, García-Cebollada H, Vilches S, Domínguez F, Molina MS, Barriales-Villa R, Frisso G, Sancho J, Serrano L, García-Pavía P, Monserrat L, Alegre-Cebollada J.
J Biol Chem. Jul;297(1):100854. doi: 10.1016/j.jbc.2021.100854. 2021
3CMD1MM, MYBPC3
Genetic, clinical, molecular, and pathogenic aspects of the South Asian-specific polymorphic MYBPC3Δ25bp variant
Arif M, Nabavizadeh P, Song T, Desai D, Singh R, Bazrafshan S, Kumar M, Wang Y, Gilbert RJ, Dhandapany PS, Becker RC, Kranias EG, Sadayappan S.
Biophys Rev. Aug;12(4):1065-1084. doi: 10.1007/s12551-020-00725-1. Epub 2020 Jul 12. 2020
4CFMH4, MYBPC3
Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin
Toepfer CN, Wakimoto H, Garfinkel AC, McDonough B, Liao D, Jiang J, Tai AC, Gorham JM, Lunde IG, Lun M, Lynch TL 4th, McNamara JW, Sadayappan S, Redwood CS, Watkins HC, Seidman JG, Seidman CE.
Sci Transl Med. Jan 23;11(476):eaat1199. doi: 10.1126/scitranslmed.aat1199. 2019
5CMD1MM, MYBPC3
MYBPC3 truncation mutations enhance actomyosin contractile mechanics in human hypertrophic cardiomyopathy
O'Leary TS, Snyder J, Sadayappan S, Day SM, Previs MJ.
J Mol Cell Cardiol. Feb;127:165-173. doi: 10.1016/j.yjmcc.2018.12.003. Epub 2018 Dec 11. 2019
6CMD1MM, MYBPC3
Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy.
van Waning JI, Caliskan K, Hoedemaekers YM, van Spaendonck-Zwarts KY, Baas AF, Boekholdt SM, van Melle JP, Teske AJ, Asselbergs FW, Backx APCM, du Marchie Sarvaas GJ, Dalinghaus M, Breur JMPJ, Linschoten MPM, Verlooij LA, Kardys I, Dooijes D, Lekanne Deprez RH, IJpma AS, van den Berg MP, Hofstra RMW, van Slegtenhorst MA, Jongbloed JDH, Majoor-Krakauer D.
J Am Coll Cardiol. Feb 20;71(7):711-722. doi: 10.1016/j.jacc.2017.12.019. 2018
7MYBPC3
Activation of Autophagy Ameliorates Cardiomyopathy in Mybpc3-Targeted Knockin Mice
Singh SR, Zech ATL, Geertz B, Reischmann-Düsener S, Osinska H, Prondzynski M, Krämer E, Meng Q, Redwood C, van der Velden J, Robbins J, Schlossarek S, Carrier L.
Circ Heart Fail. Oct;10(10):e004140. doi: 10.1161/CIRCHEARTFAILURE.117.004140 2017
8CFMH4, MYBPC3
The Role of Cardiac Myosin Binding Protein C3 in Hypertrophic Cardiomyopathy- Progress and Novel Therapeutic Opportunities.
Mohamed IA, Krishnamoorthy NT, Nasrallah GK, Da'as S.
J Cell Physiol Cell Physiol. 2016 Oct 12. doi: 10.1002/jcp.25639. [Epub ahead of print] Review. 2016
9MYBPC3
Phosphorylation and calcium antagonistically tune myosin-binding protein C's structure and function.
Previs MJ, Mun JY, Michalek AJ, Previs SB, Gulick J, Robbins J, Warshaw DM, Craig R.
Proc Natl Acad Sci U S A 113(12):3239-44. doi: 10.1073/pnas.1522236113. 2016
10MYBPC3
Oxidative Stress in Dilated Cardiomyopathy Caused by MYBPC3 Mutation.
Lynch TL 4th, Sivaguru M, Velayutham M, Cardounel AJ, Michels M, Barefield D, Govindan S, dos Remedios C, van der Velden J, Sadayappan S.
Oxid Med Cell Longev 2015:424751. doi: 10.1155/2015/424751. 2015
11CMHNE, MYBPC3
Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology.
Carrier L, Mearini G, Stathopoulou K, Cuello F.
Gene 573(2):188-97. doi: 10.1016/j.gene.2015.09.008. Review. 2015
12MYBPC3
Cardiac myosin binding protein C regulates postnatal myocyte cytokinesis.
Jiang J, Burgon PG, Wakimoto H, Onoue K, Gorham JM, O'Meara CC, Fomovsky G, McConnell BK, Lee RT, Seidman JG, Seidman CE.
Proc Natl Acad Sci U S A 112(29):9046-51. doi: 10.1073/pnas.1511004112. 2015
13CMD1MM, MYBPC3
A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life.
Calore C, De Bortoli M, Romualdi C, Lorenzon A, Angelini A, Basso C, Thiene G, Iliceto S, Rampazzo A, Melacini P.
J Med Genet 52(5):338-47. doi: 10.1136/jmedgenet-2014-102923. 2015
14MYBPC3
Cardiac MyBP-C regulates the rate and force of contraction in mammalian myocardium.
Moss RL, Fitzsimons DP, Ralphe JC.
Circ Res 116(1):183-92. doi: 10.1161/CIRCRESAHA.116.300561. Review. 2015
15MYBPC3
Myosin binding protein-C activates thin filaments and inhibits thick filaments in heart muscle cells.
Kampourakis T, Yan Z, Gautel M, Sun YB, Irving M.
Proc Natl Acad Sci U S A 111(52):18763-8. doi: 10.1073/pnas.1413922112. 2014
16CFMH4, MYBPC3
Structural characterization of the C3 domain of cardiac myosin binding protein C and its hypertrophic cardiomyopathy-related R502W mutant.
Zhang XL, De S, McIntosh LP, Paetzel M.
Biochemistry 53(32):5332-42. doi: 10.1021/bi500784g. 2014
17MYBPC1, MYBPC2, MYBPC3
Post-translational control of cardiac hemodynamics through myosin binding protein C.
Gupta MK, Robbins J.
Pflugers Arch 466(2):231-6. doi: 10.1007/s00424-013-1377-y. Review. 2014
18MYBPC3, MYH6, MYH7
Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.
Merlo M, Sinagra G, Carniel E, Slavov D, Zhu X, Barbati G, Spezzacatene A, Ramani F, Salcedo E, Di Lenarda A, Mestroni L, Taylor MR; Familial Cardiomyopathy Registry.
Clin Transl Sci 6(6):424-8. doi: 10.1111/cts.12116. Epub 2013 Oct 3. 2013
19MYBPC3
Cardiac myosin binding protein-C plays no regulatory role in skeletal muscle structure and function.
Lin B, Govindan S, Lee K, Zhao P, Han R, Runte KE, Craig R, Palmer BM, Sadayappan S.
PLoS One 8(7):e69671. doi: 10.1371/journal.pone.0069671. 2013
20MYBPC3
A gain-of-function mutation in the M-domain of cardiac myosin-binding protein-C increases binding to actin.
Bezold KL, Shaffer JF, Khosa JK, Hoye ER, Harris SP.
J Biol Chem 288(30):21496-505. doi: 10.1074/jbc.M113.474346. 2013
21MYBPC3
Molecular modeling of disease causing mutations in domain C1 of cMyBP-C.
Gajendrarao P, Krishnamoorthy N, Kassem HSh, Moharem-Elgamal S, Cecchi F, Olivotto I, Yacoub MH.
PLoS One 8(3):e59206. doi: 10.1371/journal.pone.0059206. 2013
22MYBPC3
Ablation of cardiac myosin-binding protein-C accelerates contractile kinetics in engineered cardiac tissue.
de Lange WJ, Grimes AC, Hegge LF, Ralphe JC.
J Gen Physiol 141(1):73-84. doi: 10.1085/jgp.201210837. 2013
23CALM1, MYBPC3
The motif of human cardiac myosin-binding protein C is required for its Ca2+-dependent interaction with calmodulin.
Lu Y, Kwan AH, Jeffries CM, Guss JM, Trewhella J.
J Biol Chem 287(37):31596-607. doi: 10.1074/jbc.M112.383299. 2012
24MYBPC3
The dynamic role of cardiac myosin binding protein-C during ischemia.
Decker RS, Nakamura S, Decker ML, Sausamuta M, Sinno S, Harris K, Klocke FJ, Kulikovskaya I, Winegrad S.
J Mol Cell Cardiol 52(5):1145-54. doi: 10.1016/j.yjmcc.2012.01.006. 2012
25CFMH4, MYBPC3
The role of renin-angiotensin-aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy.
Kolder IC, Michels M, Christiaans I, Ten Cate FJ, Majoor-Krakauer D, Danser AH, Lekanne Deprez RH, Tanck M, Wilde AA, Bezzina CR, Dooijes D.
Eur J Hum Genet 20(10):1071-7. doi: 10.1038/ejhg.2012.48. Epub 2012 May 9. 2012
26MYBPC3
Structure and interactions of myosin-binding protein C domain C0: cardiac-specific regulation of myosin at its neck?
Ratti J, Rostkova E, Gautel M, Pfuhl M.
J Biol Chem 286(14):12650-8. Epub 2011 Feb 5. 2011
27MYBPC3
The N-terminal domains of myosin binding protein C can bind polymorphically to F-actin.
Orlova A, Galkin VE, Jeffries CM, Egelman EH, Trewhella J.
J Mol Biol 412(3):379-86. Epub 2011 Jul 29. 2011
28MYBPC3
Signaling and myosin-binding protein C.
James J, Robbins J.
J Biol Chem 286(12):9913-9. Epub 2011 Jan 21. Review. 2011
29MYBPC3
A critical function for Ser-282 in cardiac Myosin binding protein-C phosphorylation and cardiac function.
Sadayappan S, Gulick J, Osinska H, Barefield D, Cuello F, Avkiran M, Lasko VM, Lorenz JN, Maillet M, Martin JL, Brown JH, Bers DM, Molkentin JD, James J, Robbins J.
Circ Res 109(2):141-50. Epub 2011 May 19. 2011
30MYBPC3
Myosin binding protein C interaction with actin: characterization and mapping of the binding site.
Rybakova IN, Greaser ML, Moss RL.
J Biol Chem 286(3):2008-16. Epub 2010 Nov 11. 2011
31MYBPC3, PDE4DIP
Myomegalin is a novel A-kinase anchoring protein involved in the phosphorylation of cardiac myosin binding protein C.
Uys GM, Ramburan A, Loos B, Kinnear CJ, Korkie LJ, Mouton J, Riedemann J, Moolman-Smook JC.
BMC Cell Biol. May 10;12:18. doi: 10.1186/1471-2121-12-18 2011
32CMD1MM, MYBPC3
Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype
Probst S, Oechslin E, Schuler P, Greutmann M, Boyé P, Knirsch W, Berger F, Thierfelder L, Jenni R, Klaassen S.
Circ Cardiovasc Genet. Aug 1;4(4):367-74. doi: 10.1161/CIRCGENETICS.110.959270. Epub 2011 May 6. 2011
33CFMH4, MYBPC3
Two novel mutations of the MYBPC3 gene identified in Chinese families with hypertrophic cardiomyopathy.
Lin J, Zheng DD, Tao Q, Yang JH, Jiang WP, Yang XJ, Song JP, Jiang TB, Li X.
Can J Cardiol 26(10):518-22. 2010
34MYBPC3
Analysis of cardiac myosin binding protein-C phosphorylation in human heart muscle.
Copeland O, Sadayappan S, Messer AE, Steinen GJ, van der Velden J, Marston SB.
J Mol Cell Cardiol 49(6):1003-11. Epub 2010 Sep 17. 2010
35MYBPC3
Functional differences between the N-terminal domains of mouse and human myosin binding protein-C.
Shaffer JF, Wong P, Bezold KL, Harris SP.
J Biomed Biotechnol 2010:789798. Epub 2010 Apr 7. 2010
36MYBPC3
A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia.
Dhandapany PS, Sadayappan S, Xue Y, Powell GT, Rani DS, Nallari P, Rai TS, Khullar M, Soares P, Bahl A, Tharkan JM, Vaideeswar P, Rathinavel A, Narasimhan C, Ayapati DR, Ayub Q, Mehdi SQ, Oppenheimer S, Richards MB, Price AL, Patterson N, Reich D, Singh L, Tyler-Smith C, Thangaraj K.
Nat Genet 41(2):187-91. Epub 2009 Jan 18. 2009
37MYBPC3, MYH7, TNNT2
The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy.
Møller DV, Andersen PS, Hedley P, Ersbøll MK, Bundgaard H, Moolman-Smook J, Christiansen M, Køber L.
Eur J Hum Genet 17(10):1241-9. Epub 2009 Mar 18.PMID: 19293840 2009
38CMD1MM, MYBPC3
A homozygous MYBPC3 gene mutation associated with a severe phenotype and a high risk of sudden death in a family with hypertrophic cardiomyopathy.
Ortiz MF, Rodríguez-García MI, Hermida-Prieto M, Fernández X, Veira E, Barriales-Villa R, Castro-Beiras A, Monserrat L.
Rev Esp Cardiol 62(5):572-5. English, Spanish. 2009
39ACTA2, ACTC1, ASD3, ASD5, CMD1R, CMD1S, CMH1, CMH6, CMHNE, MYBPC3, MYH11, MYH6, MYH7, TAAD1, TAAD4
Mutations in sarcomeric protein genes not only lead to cardiomyopathy but also to congenital cardiovascular malformations.
Wessels MW, Willems PJ.
Clin Genet 74(1):16-9. Epub 2008 Apr 8. 2008
40ACTC1, CFMH4, CMH1, CMH11, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNI3, TNNT2, TPM1
Shared genetic causes of cardiac hypertrophy in children and adults.
Morita H, Rehm HL, Menesses A, McDonough B, Roberts AE, Kucherlapati R, Towbin JA, Seidman JG, Seidman CE.
N Engl J Med 358(18):1899-908. Epub 2008 Apr 9. 2008
41CHMNE, MYBPC3
Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish.
Zahka K, Kalidas K, Simpson MA, Cross H, Keller BB, Galambos C, Gurtz K, Patton MA, Crosby AH.
Heart 94(10):1326-30. Epub 2008 May 8. 2008
42MYBPC3
Cardiac myosin-binding protein C decorates F-actin: implications for cardiac function.
Whitten AE, Jeffries CM, Harris SP, Trewhella J.
Proc Natl Acad Sci U S A 105(47):18360-5. Epub 2008 Nov 14. 2008
43FAM188A, ITGA8, MYBPC3
Genome-wide mapping of modifier chromosomal loci for human hypertrophic cardiomyopathy.
Daw EW, Chen SN, Czernuszewicz G, Lombardi R, Lu Y, Ma J, Roberts R, Shete S, Marian AJ.
Hum Mol Genet 16(20):3463-71. Epub 2007 Jul 25. 2007
44MYBPC3
Decreased phosphorylation levels of cardiac myosin-binding protein-C in human and experimental heart failure.
El-Armouche A, Pohlmann L, Schlossarek S, Starbatty J, Yeh YH, Nattel S, Dobrev D, Eschenhagen T, Carrier L.
J Mol Cell Cardiol 43(2):223-9. Epub 2007 May 13. 2007
45MYBPC3
Dissecting the N-terminal myosin binding site of human cardiac myosin-binding protein C. Structure and myosin binding of domain C2.
Ababou A, Gautel M, Pfuhl M.
J Biol Chem 282(12):9204-15. Epub 2006 Dec 27. 2007
46CMHNE, MYBPC3
Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy.
Xin B, Puffenberger E, Tumbush J, Bockoven JR, Wang H.
Am J Med Genet A 143(22):2662-7. 2007
47CMD1MM, MYBPC3
Mutations in the genes for sarcomeric proteins in Japanese patients with onset sporadic hypertrophic cardiomyopathy after age 40 years.
Anan R, Niimura H, Takenaka T, Hamasaki S, Tei C.
Am J Cardiol 99(12):1750-4. Epub 2007 Apr 26. 2007
48CMHNE, MYBPC3
Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene.
Lekanne Deprez RH, Muurling-Vlietman JJ, Hruda J, Baars MJ, Wijnaendts LC, Stolte-Dijkstra I, Alders M, van Hagen JM.
J Med Genet 43(10):829-32. Epub 2006 May 5. 2006
49CMD1MM, MYBPC3
Morphologic characteristics of hypertrophic cardiomyopathy of the elderly with cardiac myosin-binding protein C gene mutations.
Hirota T, Kitaoka H, Kubo T, Okawa M, Furuno T, Doi YL.
Circ J 70(7):875-9. 2006
50MYBPC3
Expression of cardiac myosin-binding protein-C (cMyBP-C) in Drosophila as a model for the study of human cardiomyopathies.
Manh TP, Mokrane M, Georgenthum E, Flavigny J, Carrier L, Semeriva M, Piovant M, Roder L.
Hum Mol Genet 14(1):7-17. Epub 2004 Nov 03. 2005
51MYBPC3
MYBPC3 polymorphism is a modifier for expression of cardiac hypertrophy in patients with hypertrophic cardiomyopathy.
Wang P, Zou Y, Fu C, Zhou X, Hui R.
Biochem Biophys Res Commun 329(2):796-9. 2005
52CFMH4, MYBPC3
Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency.
Andersen PS, Havndrup O, Bundgaard H, Larsen LA, Vuust J, Pedersen AK, Kjeldsen K, Christiansen M.
Eur J Hum Genet 12(8):673-7. 2004
53CFMH4, MYBPC3
17-year follow-up study of a patient with obstructive hypertrophic cardiomyopathy with a deletion mutation in the cardiac myosin binding protein C gene.
Ogimoto A, Hamada M, Nakura J, Shigematsu Y, Hara Y, Ohtsuka T, Morishima A, Kimura A, Miki T, Hiwada K.
Circ J 68(2):174-7. 2004
54CMD1MM, CMH1, MYBPC3, MYH7
Hypertrophic cardiomyopathy: two homozygous cases with typical hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy.
Nanni L, Pieroni M, Chimenti C, Simionati B, Zimbello R, Maseri A, Frustaci A, Lanfranchi G.
Biochem Biophys Res Commun 309(2):391-8. 2003
55TPM1, TNNT2, MYBPC3, MYH7
Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.
Daehmlow S, Erdmann J, Knueppel T, Gille C, Froemmel C, Hummel M, Hetzer R, Regitz-Zagrosek V.
Biochem Biophys Res Commun 298(1):116-20. 2002
56CFMH4, MYBPC3
A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance.
Moolman JA, Reith S, Uhl K, Bailey S, Gautel M, Jeschke B, Fischer C, Ochs J, McKenna WJ, Klues H, Vosberg HP.
Circulation 101(12):1396-402. 2000
57CFMH4, MYBPC3
Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C.
Gruen M, et al.
J Mol Biol 286(3):933-49. 1999
58CFMH4, CMH1, MYBPC3, MYH7
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.
Richard P, et al.
J Med Genet 36(7):542-5. 1999
59CMD1MM, MYBPC3
Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy.
Moolman-Smook JC, et al.
J Med Genet 35 : 253-254. 1998
60CFMH4, MYBPC3
Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene.
Yu B, et al.
J Med Genet 35 : 205-210. 1998
61CMD1MM, MYBPC3
Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy.
Niimura H, et al.
N Engl J Med 338 : 1248-1257. 1998
62MYBPC3
Modulation of contractility in human cardiac hypertrophy by myosin essential light chain isoforms.
Schaub MC, Hefti MA, Zuellig RA, Morano I.
Cardiovasc Res 37(2):381-404. Review. 1998
63CFMH4, MYBPC3
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.
Carrier L, et al.
Circ Res 80 : 427-434. 1997
64CFMH4, MYBPC3
Novel splice donor site mutation in the cardiac myosin-binding protein C gene in familial hypertrophic cardiomyopathy.
Rottbauer W, Gautel M, Zehelein J, Labeit S, Franz WM, Fischer C, Vollrath B, Mall G, Dietz R, Kubler W, Katus HA.
J Clin Invest 100(2):475-82. 1997
65CFMH4, MYBPC3
Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy.
Bonne G, et al.
Nat Genet 11 : 438-440. 1995
66CFMH4, MYBPC3
Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy.
Watkins H, et al.
Nat Genet 11 : 434-437. 1995
67CFMH4, MYBPC3
Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C : a modulator of cardiac contraction ?
Gautel M, et al.
EMBO J 14 : 1952-1960. 1995