| 1 | TNNT2, CMD1D, CMH2
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| The role of a common TNNT2 polymorphism in cardiac hypertrophy.
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| Komamura K, Iwai N, Kokame K, Yasumura Y, Kim J, Yamagishi M, Morisaki T, Kimura A, Tomoike H, Kitakaze M, Miyatake K.
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| J Hum Genet 49(3):129-33. Epub 2004 Feb 24. 2004
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| 2 | CMD1W, CMH1, CMH2, VCL
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| Dilated cardiomyopathy: a genetically heterogeneous disease.
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| Shaw T,Elliott P,McKenna WJ.
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| Lancet 360(31):654-655. 2002
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| 3 | CMH2, TNNT2
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| Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy
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| Li D, Czernuszewicz GZ, Gonzalez O, Tapscott T, Karibe A, Durand JB, Brugada R, Hill R, Gregoritch JM, Anderson JL, Quinones M, Bachinski LL, Roberts R.
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| Circulation 104(18):2188-93. 2001
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| 4 | CMH2, TNNT2
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| Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy.
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| Szczesna D, Zhang R, Zhao J, Jones M, Guzman G, Potter JD.
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| J Biol Chem 275(1):624-30. 2000
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| 5 | CMH2, TNNT2
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| Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy.
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| Ho CY, Lever HM, DeSanctis R, Farver CF, Seidman JG, Seidman CE.
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| Circulation 102(16):1950-5. 2000
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| 6 | CMH2, TNNT2
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| Effects of missense mutations Phe110Ile and Glu244Asp in human cardiac troponin T on force generation in skinned cardiac muscle fibers.
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| Nakaura H, Yanaga F, Ohtsuki I, Morimoto S.
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| J Biochem (Tokyo) 126(3):457-60 1999
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| 7 | CMH2, TNNT2
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| Patients with familial hypertrophic cardiomyopathy caused by a Phe110Ile missense mutation in the cardiac troponin T gene have variable cardiac morphologies and a favorable prognosis.
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| Anan R, Shono H, Kisanuki A, Arima S, Nakao S, Tanaka H.
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| Circulation 98 : 391-397. 1998
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| 8 | CMH2, TNNT2
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| Sudden death due to troponin T mutations.
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| Moolman JC, et al.
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| J Am Coll Cardiol 29 : 549-555. 1997
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| 9 | CMH2, TNNT2
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| Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy.
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| Nakajima-Taniguchi C, et al.
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| J Mol Cell Cardiol 29 : 839-843. 1997
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| 10 | CMH2, TNNT2
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| Expression of a mutant (Arg92Gln) human cardiac troponin T, known to cause hypertrophic cardiomyopathy, impairs adult cardiac myocyte contractility.
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| Marian AJ, Zhao G, Seta Y, Roberts R, Yu QT.
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| Circ Res 81(1):76-85. 1997
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| 11 | CMH2, TNNT2
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| Expression and functional assessment of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy. Evidence for a dominant negative action.
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| Watkins H, et al.
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| J Clin Invest 98 : 2456-2461. 1996
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| 12 | CMH2, TNNT2
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| Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy.
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| Forissier JF, et al.
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| Circulation 94 : 3069-3073. 1996
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| 13 | 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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| 14 | CMH1, CMH2
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| Exclusion of genes coding for proteins of the cytoskeleton and the extracellular matrix in familial hypertrophic cardiomyopathy using a candidate gene approach.
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| Dufour C, et al.
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| C R Acad Sci III 316 : 474-481. 1993
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| 15 | CMH2
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| A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3.
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| Watkins H, MacRae C, Thierfelder L, Chou YH, Frenneaux M, McKenna W,Seidman JG, Seidman CE.
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| Nat Genet 3(4):333-7. 1993
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