| 1 | CMH3, TPM1
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| The effect of the Asp175Asn and Glu180Gly TPM1 mutations on actin-myosin interaction during the ATPase cycle.
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| Rysev NA, Karpicheva OE, Redwood CS, Borovikov YS.
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| Biochim Biophys Acta 1824(2):366-73. doi: 10.1016/j.bbapap.2011.11.004. Epub 2011 Dec 3.
2012
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| 2 | CMH3, TPM1
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| Several cardiomyopathy causing mutations on tropomyosin either destabilize the active state of actomyosin or alter the binding properties of tropomyosin.
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| Mathur MC, Chase PB, Chalovich JM.
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| Biochem Biophys Res Commun 406(1):74-8. Epub 2011 Feb 3.
2011
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| 3 | CMH3, TPM1
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| Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy.
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| Caleshu C, Sakhuja R, Nussbaum RL, Schiller NB, Ursell PC, Eng C, De Marco T, McGlothlin D, Burchard EG, Rame JE.
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| Am J Med Genet A 155A(9):2229-35. doi: 10.1002/ajmg.a.34097. Epub 2011 Aug 5.
2011
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| 4 | CMH3, TPM1
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| Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments.
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| Robinson P, Griffiths PJ, Watkins H, Redwood CS.
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| Circ Res 101(12):1266-73. Epub 2007 Oct 11.
2007
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| 5 | TPM1, CMH3
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| A novel TPM1 mutation in a family with hypertrophic cardiomyopathy and sudden cardiac death in childhood.
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| Van Driest SL, Will ML, Atkins DL, Ackerman MJ.
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| Am J Cardiol 90(10):1123-7. 2002
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| 6 | CMH3, TPM1
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| Clinical features of hypertrophic cardiomyopathy caused by mutation of a hot spot in the alpha-tropomyosin gene.
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| Coviello DA, et al.
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| J Am Coll Cardiol 29 : 635-640. 1997
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| 7 | CMH3, TPM1
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| Effects of two familial hypertrophic cardiomyopathy-causing mutations on alpha-tropomyosin structure and function.
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| Golitsina N, et al.
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| Biochemistry 36 : 4637-4642. 1997
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| 8 | CMH3, TPM1
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| Effects of two hypertrophic cardiomyopathy mutations in alpha-tropomyosin, Asp175Asn and Glu180Gly, on Ca2+ regulation of thin filament motility.
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| Bing W, Redwood CS, Purcell IF, Esposito G, Watkins H, Marston SB.
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| Biochem Biophys Res Commun 236(3):760-4. 1997
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| 9 | CMH3, TPM1
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| A De novo mutation in alpha-tropomyosin that causes hypertrophic cardiomyopathy.
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| Watkins H, et al.
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| Circulation 91 : 2302-2305. 1995
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| 10 | TPM1, TNNI1, CMH3, CMH2
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| Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy : a disease of the sarcomere.
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| Thierfelder L, et al.
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| Cell 77 : 701-712. 1994
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| 11 | CMH3, D15S98, D15S108
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| A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2.
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| Thierfelder L, MacRae C, Watkins H, Tomfohrde J, Williams M, McKenna W,Bohm K, Noeske G, Schlepper M, Bowcock A, et al.
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| Proc Natl Acad Sci U S A 90(13):6270-4. 1993
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