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Items: 1 to 20 of 72

1.

Actin in action and inaction: the differential effects of hypertrophic and dilated cardiomyopathy actin mutations on thin filament regulation.

Greenberg MJ, Moore JR.

J Mol Cell Cardiol. 2010 Feb;48(2):277-8. doi: 10.1016/j.yjmcc.2009.10.015. Epub 2009 Oct 29. No abstract available.

PMID:
19879279
2.

Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro.

Debold EP, Saber W, Cheema Y, Bookwalter CS, Trybus KM, Warshaw DM, Vanburen P.

J Mol Cell Cardiol. 2010 Feb;48(2):286-92. doi: 10.1016/j.yjmcc.2009.09.014. Epub 2009 Sep 30.

3.

Actin mutations in hypertrophic and dilated cardiomyopathy cause inefficient protein folding and perturbed filament formation.

Vang S, Corydon TJ, Børglum AD, Scott MD, Frydman J, Mogensen J, Gregersen N, Bross P.

FEBS J. 2005 Apr;272(8):2037-49.

4.

Clinical and genetic characteristics of alpha cardiac actin gene mutations in hypertrophic cardiomyopathy.

Mogensen J, Perrot A, Andersen PS, Havndrup O, Klausen IC, Christiansen M, Bross P, Egeblad H, Bundgaard H, Osterziel KJ, Haltern G, Lapp H, Reinecke P, Gregersen N, Børglum AD.

J Med Genet. 2004 Jan;41(1):e10. No abstract available.

5.

Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy.

Robinson P, Mirza M, Knott A, Abdulrazzak H, Willott R, Marston S, Watkins H, Redwood C.

J Biol Chem. 2002 Oct 25;277(43):40710-6. Epub 2002 Aug 18.

6.
7.

Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.

Van Driest SL, Ellsworth EG, Ommen SR, Tajik AJ, Gersh BJ, Ackerman MJ.

Circulation. 2003 Jul 29;108(4):445-51. Epub 2003 Jul 14.

8.

Dilated cardiomyopathy mutant tropomyosin mice develop cardiac dysfunction with significantly decreased fractional shortening and myofilament calcium sensitivity.

Rajan S, Ahmed RP, Jagatheesan G, Petrashevskaya N, Boivin GP, Urboniene D, Arteaga GM, Wolska BM, Solaro RJ, Liggett SB, Wieczorek DF.

Circ Res. 2007 Jul 20;101(2):205-14. Epub 2007 Jun 7. Erratum in: Circ Res. 2007 Sep 14;101(6):e80.

9.

Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy.

Olson TM, Doan TP, Kishimoto NY, Whitby FG, Ackerman MJ, Fananapazir L.

J Mol Cell Cardiol. 2000 Sep;32(9):1687-94.

PMID:
10966831
10.

Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy.

Cuda G, Fananapazir L, Zhu WS, Sellers JR, Epstein ND.

J Clin Invest. 1993 Jun;91(6):2861-5.

11.

No variants in the cardiac actin gene in Finnish patients with dilated or hypertrophic cardiomyopathy.

Kärkkäinen S, Peuhkurinen K, Jääskeläinen P, Miettinen R, Kärkkäinen P, Kuusisto J, Laakso M.

Am Heart J. 2002 Jun;143(6):E6.

PMID:
12075240
12.

Apical hypertrophic cardiomyopathy or left ventricular non-compaction? A difficult differential diagnosis.

Spirito P, Autore C.

Eur Heart J. 2007 Aug;28(16):1923-4. Epub 2007 Jul 10. No abstract available.

PMID:
17623677
13.

Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.

Girolami F, Ho CY, Semsarian C, Baldi M, Will ML, Baldini K, Torricelli F, Yeates L, Cecchi F, Ackerman MJ, Olivotto I.

J Am Coll Cardiol. 2010 Apr 6;55(14):1444-53. doi: 10.1016/j.jacc.2009.11.062.

14.
15.

Effects of two familial hypertrophic cardiomyopathy-causing mutations on alpha-tropomyosin structure and function.

Golitsina N, An Y, Greenfield NJ, Thierfelder L, Iizuka K, Seidman JG, Seidman CE, Lehrer SS, Hitchcock-DeGregori SE.

Biochemistry. 1997 Apr 15;36(15):4637-42. Erratum in: Biochemistry 1999 Mar 23;38(12):3850.

PMID:
9109674
16.
17.

Cardiomyopathic tropomyosin mutations that increase thin filament Ca2+ sensitivity and tropomyosin N-domain flexibility.

Heller MJ, Nili M, Homsher E, Tobacman LS.

J Biol Chem. 2003 Oct 24;278(43):41742-8. Epub 2003 Aug 4.

18.

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.

Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Müller CR, Nürnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG.

Nat Genet. 1999 Oct;23(2):208-12.

PMID:
10508519
19.

Familial hypertrophic cardiomyopathy: a genetic model of cardiac hypertrophy.

Watkins H, Seidman JG, Seidman CE.

Hum Mol Genet. 1995;4 Spec No:1721-7. Review.

PMID:
8541871
20.

[Incidence of ECG changes in the relatives of patients with hypertrophic cardiomyopathy without concurrent myocardial hypertrophy].

Gregor P, Widimský P, Cervenka V, Hrobonová V, Sládková T, Dvorák J.

Vnitr Lek. 1988 Aug;34(8):755-61. Czech. No abstract available.

PMID:
2972116

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