Hypertrophic cardiomyopathy

[1]. A A Geisterfer-Lowrance, et al. A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell. 1990 Sep 7;62(5):999-1006. [Content Brief]

[2]. A J Marian, et al. The molecular genetic basis for hypertrophic cardiomyopathy. J Mol Cell Cardiol. 2001 Apr;33(4):655-70. [Content Brief]

[3]. A Kimura, et al. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet. 1997 Aug;16(4):379-82. [Content Brief]

[4]. Ahmet Okay Çağlayan, et al. ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features. Cold Spring Harb Mol Case Stud. 2017 Sep 1;3(5):a001859. [Content Brief]

[5]. Alessandra Ruggiero, et al. Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity. Cardiovasc Res. 2013 Jan 1;97(1):44-54. [Content Brief]

[6]. Andrew P Landstrom, et al. Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C. J Mol Cell Cardiol. 2008 Aug;45(2):281-8. [Content Brief]

[7]. Andrew P Landstrom, et al. Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans. J Mol Cell Cardiol. 2007 Jun;42(6):1026-35. [Content Brief]

[8]. Andrew P Landstrom, et al. PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing. Am Heart J. 2011 Jan;161(1):165-71. [Content Brief]

[9]. Christian Geier, et al. Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. Circulation. 2003 Mar 18;107(10):1390-5. [Content Brief]

[10]. Diane Fatkin, et al. Molecular mechanisms of inherited cardiomyopathies. Physiol Rev. 2002 Oct;82(4):945-80. [Content Brief]

[11]. E Blair, et al. Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. Hum Mol Genet. 2001 May 15;10(11):1215-20. [Content Brief]

[12]. Enkhsaikhan Purevjav, et al. Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations. Hum Mol Genet. 2012 May 1;21(9):2039-53. [Content Brief]

[13]. H Watkins, et al. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet. 1995 Dec;11(4):434-7. [Content Brief]

[14]. Hideshi Niimura, et al. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation. 2002 Jan 29;105(4):446-51. [Content Brief]

[15]. Hu Wang, et al. Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy. Am J Hum Genet. 2010 Nov 12;87(5):687-93. [Content Brief]

[16]. J Mogensen, et al. Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. J Clin Invest. 1999 May 15;103(10):R39-43. [Content Brief]

[17]. J S Davis, et al. The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation. Cell. 2001 Nov 30;107(5):631-41. [Content Brief]

[18]. Jeanne L Theis, et al. Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy. Biochem Biophys Res Commun. 2006 Dec 29;351(4):896-902. [Content Brief]

[19]. Juan Pablo Ochoa, et al. Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy. J Am Coll Cardiol. 2018 Nov 13;72(20):2457-2467. [Content Brief]

[20]. K Poetter, et al. Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nat Genet. 1996 May;13(1):63-9. [Content Brief]

[21]. L Thierfelder, et al. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell. 1994 Jun 3;77(5):701-12. [Content Brief]

[22]. M Satoh, et al. Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene. Biochem Biophys Res Commun. 1999 Aug 27;262(2):411-7. [Content Brief]

[23]. Rafael Valdés-Mas, et al. Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy. Nat Commun. 2014 Oct 29;5:5326. [Content Brief]

[24]. Takeharu Hayashi, et al. Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. Biochem Biophys Res Commun. 2004 Jan 2;313(1):178-84. [Content Brief]

[25]. Takeharu Hayashi, et al. Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. J Am Coll Cardiol. 2004 Dec 7;44(11):2192-201. [Content Brief]

[26]. Vlad C Vasile, et al. A missense mutation in a ubiquitously expressed protein, vinculin, confers susceptibility to hypertrophic cardiomyopathy. Biochem Biophys Res Commun. 2006 Jul 7;345(3):998-1003. [Content Brief]

[27]. W M Franz, et al. Cardiomyopathies: from genetics to the prospect of treatment. Lancet. 2001 Nov 10;358(9293):1627-37. [Content Brief]