Citations for
1CMH4, 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
2MYBPC3
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
3MYBPC3
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
4CMHNE, 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
5MYBPC3
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
6CMH4, 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
7MYBPC3
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
8MYBPC3
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
9CMH4, 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
10MYBPC1, 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
11MYBPC3, 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
12MYBPC3
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
13MYBPC3
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
14MYBPC3
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
15MYBPC3
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
16CALM1, 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
17MYBPC3
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
18CMH4, 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
19MYBPC3
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
20MYBPC3
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
21MYBPC3
Signaling and myosin-binding protein C.
James J, Robbins J.
J Biol Chem 286(12):9913-9. Epub 2011 Jan 21. Review. 2011
22MYBPC3
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
23MYBPC3
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
24MYBPC3, 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
25CMH4, 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
26MYBPC3
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
27MYBPC3
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
28MYBPC3
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
29MYBPC3, 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
30CMH4, 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
31ACTA2, 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
32ACTC1, CMH1, CMH11, CMH4, 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
33CHMNE, 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
34MYBPC3
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
35FAM188A, 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
36MYBPC3
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
37MYBPC3
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
38CMHNE, 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
39CMH4, 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
40CMHNE, 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
41MYBPC3, CMH4
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
42MYBPC3
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
43MYBPC3
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
44CMH4, 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
45MYBPC3, CMH4
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
46CMH1, CMH4, MYH7, MYBPC3
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
47TPM1, 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
48CMH4, 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
49CMH4, 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
50MYH7, CMH1, CMH4, MYBPC3
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
51CMH4, 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
52CMH4, 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
53CMH4, 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
54MYBPC3
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
55CMH4, 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
56CMH4, 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
57MYBPC3, CMH4
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
58CMH4, 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
59CMH4, 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