| 1 | CFMH4, MYBPC3
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| Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin
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| 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.
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| Sci Transl Med. Jan 23;11(476):eaat1199. doi: 10.1126/scitranslmed.aat1199. 2019
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| 2 | CFMH4, MYBPC3
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| The Role of Cardiac Myosin Binding Protein C3 in Hypertrophic Cardiomyopathy- Progress and Novel Therapeutic Opportunities.
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| Mohamed IA, Krishnamoorthy NT, Nasrallah GK, Da'as S.
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| J Cell Physiol Cell Physiol. 2016 Oct 12. doi: 10.1002/jcp.25639. [Epub ahead of print] Review. 2016
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| 3 | CFMH4, MYBPC3
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| Structural characterization of the C3 domain of cardiac myosin binding protein C and its hypertrophic cardiomyopathy-related R502W mutant.
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| Zhang XL, De S, McIntosh LP, Paetzel M.
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| Biochemistry 53(32):5332-42. doi: 10.1021/bi500784g. 2014
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| 4 | CFMH4, MYBPC3
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| The role of renin-angiotensin-aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy.
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| 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.
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| Eur J Hum Genet 20(10):1071-7. doi: 10.1038/ejhg.2012.48. Epub 2012 May 9. 2012
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| 5 | CFMH4, MYBPC3
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| Two novel mutations of the MYBPC3 gene identified in Chinese families with hypertrophic cardiomyopathy.
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| Lin J, Zheng DD, Tao Q, Yang JH, Jiang WP, Yang XJ, Song JP, Jiang TB, Li X.
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| Can J Cardiol 26(10):518-22. 2010
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| 6 | ACTC1, CFMH4, CMH1, CMH11, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNI3, TNNT2, TPM1
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| Shared genetic causes of cardiac hypertrophy in children and adults.
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| Morita H, Rehm HL, Menesses A, McDonough B, Roberts AE, Kucherlapati R, Towbin JA, Seidman JG, Seidman CE.
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| N Engl J Med 358(18):1899-908. Epub 2008 Apr 9. 2008
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| 7 | CFMH4, MYBPC3
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| Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency.
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| Andersen PS, Havndrup O, Bundgaard H, Larsen LA, Vuust J, Pedersen AK, Kjeldsen K, Christiansen M.
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| Eur J Hum Genet 12(8):673-7. 2004
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| 8 | CFMH4, MYBPC3
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| 17-year follow-up study of a patient with obstructive hypertrophic cardiomyopathy with a deletion mutation in the cardiac myosin binding protein C gene.
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| Ogimoto A, Hamada M, Nakura J, Shigematsu Y, Hara Y, Ohtsuka T, Morishima A, Kimura A, Miki T, Hiwada K.
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| Circ J 68(2):174-7. 2004
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| 9 | CFMH4, MYBPC3
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| A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance.
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| Moolman JA, Reith S, Uhl K, Bailey S, Gautel M, Jeschke B, Fischer C, Ochs J, McKenna WJ, Klues H, Vosberg HP.
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| Circulation 101(12):1396-402. 2000
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| 10 | CFMH4, MYBPC3
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| Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C.
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| Gruen M, et al.
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| J Mol Biol 286(3):933-49. 1999
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| 11 | CFMH4, CMH1, MYBPC3, MYH7
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| 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.
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| Richard P, et al.
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| J Med Genet 36(7):542-5. 1999
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| 12 | CFMH4, MYBPC3
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| Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene.
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| Yu B, et al.
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| J Med Genet 35 : 205-210. 1998
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| 13 | CFMH4, MYBPC3
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| 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.
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| Carrier L, et al.
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| Circ Res 80 : 427-434. 1997
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| 14 | CFMH4, MYBPC3
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| Novel splice donor site mutation in the cardiac myosin-binding protein C gene in familial hypertrophic cardiomyopathy.
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| Rottbauer W, Gautel M, Zehelein J, Labeit S, Franz WM, Fischer C, Vollrath B, Mall G, Dietz R, Kubler W, Katus HA.
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| J Clin Invest 100(2):475-82. 1997
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| 15 | CFMH4
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| Mapping the locus for familial hypertrophic cardiomyopathy to chromosome 11 in a family with a case of apical hypertrophic cardiomyopathy of the Japanese type.
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| Ko YL, et al.
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| Hum Genet 97 : 457-461. 1996
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| 16 | CFMH4, MYBPC3
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| Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy.
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| Bonne G, et al.
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| Nat Genet 11 : 438-440. 1995
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| 17 | CFMH4, MYBPC3
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| Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy.
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| Watkins H, et al.
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| Nat Genet 11 : 434-437. 1995
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| 18 | CFMH4, MYBPC3
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| Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C : a modulator of cardiac contraction ?
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| Gautel M, et al.
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| EMBO J 14 : 1952-1960. 1995
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| 19 | CFMH4
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| Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11.
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| Carrier L, et al.
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| Nat Genet 4 : 311-313. 1993
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