|3.||Cardiac Sudden Death (Sudden Cardiac Arrest)
|5.||Left Ventricular Hypertrophy (Ventricular Hypertrophy, Left)
|1.||Szczesna-Cordary, Danuta: 18 articles (12/2014 - 01/2004)|
|2.||Wieczorek, David F: 10 articles (11/2015 - 09/2003)|
|3.||Muthu, Priya: 10 articles (12/2014 - 05/2010)|
|4.||Tardiff, Jil C: 10 articles (11/2012 - 09/2003)|
|5.||Kazmierczak, Katarzyna: 9 articles (12/2014 - 03/2009)|
|6.||Carrier, Lucie: 9 articles (01/2010 - 07/2002)|
|7.||Potter, James D: 9 articles (08/2006 - 04/2002)|
|8.||Solaro, R John: 8 articles (11/2015 - 01/2002)|
|9.||Wolska, Beata M: 7 articles (11/2015 - 07/2007)|
|10.||Brenner, Bernhard: 7 articles (04/2013 - 03/2002)|
08/01/2001 - "Over 40 different mutations in the cardiac myosin heavy chain gene (MYH7) have been associated with familial hypertrophic cardiomyopathy (FHC), but no study has analyzed variation at this locus within the normal human population. "
04/01/2013 - "Familial Hypertrophic Cardiomyopathy (FHC) is frequently caused by mutations in the β-cardiac myosin heavy chain (β-MyHC). "
06/20/2012 - "Mice heterozygous for this mutation in the α-cardiac myosin isoform display typical familial hypertrophic cardiomyopathy pathology. "
06/20/2012 - "Cell-intrinsic functional effects of the α-cardiac myosin Arg-403-Gln mutation in familial hypertrophic cardiomyopathy."
08/01/2007 - "A p.R870H mutation in the beta-cardiac myosin heavy chain 7 gene causes familial hypertrophic cardiomyopathy in several members of an Indian family."
|2.||Protein Isoforms (Isoforms)IBA
02/16/2001 - "Multiple mutations within the gene for cardiac MyBP-C, one of three known isoforms, have been linked to familial hypertrophic cardiomyopathy. "
01/01/1996 - "The discovery that mutant MYH isoforms have a causal role in the human disease familial hypertrophic cardiomyopathy (FHC) has implemented structure/function investigations of MYHs. "
10/01/2006 - "Single-molecule laser tweezer studies of cardiac myosin isoforms and their mutants have helped to elucidate the pathogenesis of familial hypertrophic cardiomyopathies. "
11/01/2002 - "This article reviews following aspects of troponin researches: 1) early studies on the structure and function of troponin, 2) molecular mechanisms of Ca(2+)-regulation, 3) principles of troponin-exchange in skinned fibers and properties of troponin isoforms thereafter clarified under physiological conditions, 4) recent studies on the functional consequences of the mutations in human cardiac troponins T and I that cause genetic disorders, familial hypertrophic cardiomyopathy (HCM), and familial dilated cardiomyopathy (DCM)."
01/01/2002 - "Mutations within the genes encoding some myosin isoforms have been found to be responsible for blindness (myosins III and VIIA), deafness (myosins I, IIA, IIIA, VI, VIIA and XV) and familial hypertrophic cardiomyopathy (beta cardiac myosin heavy chain and both the regulatory and essential light chains). "
|3.||myosin-binding protein CIBA
03/01/2008 - "Thermal folding molecular dynamics simulations of the domain C5 of Myosin binding protein C were performed using a native-centric model to study the role of three mutations related to Familial Hypertrophic Cardiomyopathy. "
05/01/2012 - "In the present review we discuss changes in phosphorylation of the thick filament protein myosin binding protein C (cMyBP-C) reported in failing myocardium, with emphasis on phosphorylation changes observed in familial hypertrophic cardiomyopathy caused by mutations in MYBPC3. "
02/15/2008 - "The impact of three mutations of domain C5 from myosin binding protein C, correlated to Familial Hypertrophic Cardiomyopathy, has been assessed through molecular dynamics simulations based on a native centric protein modeling. "
08/01/2004 - "Mutations in the MYBPC3 gene, encoding the sarcomere protein myosin-binding protein C, are among the most frequent causes of autosomal dominant familial hypertrophic cardiomyopathy (FHC). "
08/01/2004 - "Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency."
02/17/2009 - "Clinical studies have revealed that the D166V mutation in the ventricular myosin regulatory light chain (RLC) can cause a malignant phenotype of familial hypertrophic cardiomyopathy (FHC). "
01/01/2012 - "D166V point mutation in the ventricular myosin regulatory light chain (RLC) is one of the causes of familial hypertrophic cardiomyopathy (FHC). "
06/29/2010 - "A single-point mutation in the gene encoding the ventricular myosin regulatory light chain (RLC) is sufficient to cause familial hypertrophic cardiomyopathy (FHC). "
05/01/2010 - "One of the sarcomeric mutations associated with a malignant phenotype of familial hypertrophic cardiomyopathy (FHC) is the D166V point mutation in the ventricular myosin regulatory light chain (RLC) encoded by the MYL2 gene. "
09/01/2009 - "A novel mutation of the beta myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy."
|5.||Troponin T (T, Troponin)IBA
04/27/2012 - "Correlation of molecular and functional effects of mutations in cardiac troponin T linked to familial hypertrophic cardiomyopathy: an integrative in silico/in vitro approach."
02/01/2011 - "Abnormal heart rate regulation in murine hearts with familial hypertrophic cardiomyopathy-related cardiac troponin T mutations."
08/01/2009 - "Naturally occurring mutations in cardiac troponin T (cTnT) result in a clinical subset of familial hypertrophic cardiomyopathy. "
10/01/2008 - "Ile90Met, a novel mutation in the cardiac troponin T gene for familial hypertrophic cardiomyopathy in a Chinese pedigree."
06/01/2007 - "Mutations in cardiac troponin T (cTnT) are linked to a severe form of Familial Hypertrophic Cardiomyopathy. "
|6.||Proteins (Proteins, Gene)IBA
07/01/2015 - "Familial hypertrophic cardiomyopathy (HCM) is usually caused by autosomal dominant pathogenic mutations in genes encoding sarcomeric or sarcomere-associated cardiac muscle proteins. "
01/01/2015 - "Familial hypertrophic cardiomyopathy (HCM) is attributed to mutations in genes that encode for the sarcomere proteins, especially Mybpc3 and Myh7. "
10/01/2012 - "Several mutations in distinct genes, all coding for sarcomeric proteins, have been reported in unrelated kindreds with familial hypertrophic cardiomyopathy (FHC). "
03/18/2011 - "In the 20 years since the discovery of the first mutation linked to familial hypertrophic cardiomyopathy (HCM), an astonishing number of mutations affecting numerous sarcomeric proteins have been described. "
12/01/2010 - "Familial hypertrophic cardiomyopathy (FHC) is an autosomal dominant genetic disorder linked to numerous mutations in the sarcomeric proteins. "
|7.||Carrier Proteins (Binding Protein)IBA
01/01/2013 - "[Echocardiographic study of double mutations of myosin-binding protein C3 gene in Chinese patients with familial hypertrophic cardiomyopathy]."
09/01/2002 - "Functional and spectroscopic studies of a familial hypertrophic cardiomyopathy mutation in Motif X of cardiac myosin binding protein-C."
07/01/2013 - "Mutations in cardiac myosin binding protein C (MyBP-C) are a common cause of familial hypertrophic cardiomyopathy (FHC). "
08/01/2012 - "Genetic analysis revealed a myosin binding protein C3 mutation, which is reportedly responsible for familial hypertrophic cardiomyopathy. "
01/15/2010 - "Familial hypertrophic cardiomyopathy (FHC) is frequently caused by cardiac myosin-binding protein C (cMyBP-C) gene mutations, which should result in C-terminal truncated mutants. "
01/01/2012 - "Myocardial contractile and metabolic properties of familial hypertrophic cardiomyopathy caused by cardiac troponin I gene mutations: a simulation study."
12/01/2003 - "In this study, we purified the 30-kDa protein from heart extract and identified it as cardiac troponin I (cTnI), encoded by a gene in which mutations can cause familial hypertrophic cardiomyopathy (HCM). "
03/01/2008 - "To understand the functional consequences of the Lys184 deletion in murine cardiac troponin I (mcTnI(DeltaK184)), we have studied the primary effects of this mutation linked to familial hypertrophic cardiomyopathy (FHC) at the sarcomeric level. "
10/01/2006 - "Gene mutations in cardiac troponin I (cTnI) account for up to 5% of genotyped families with familial hypertrophic cardiomyopathy (FHC). "
10/01/2006 - "Molecular insights from a novel cardiac troponin I mouse model of familial hypertrophic cardiomyopathy."
|9.||Myosin Heavy Chains (Myosin Heavy Chain)IBA
04/01/2003 - "In this study we used a novel approach to examine the functional impact of changes in myosin heavy chain (MHC) isoform expression, as well as the consequences of expressing the mutant MHC implicated in familial hypertrophic cardiomyopathy (FHC). "
12/01/2012 - "We aimed to establish reference parameters to identify functional effects of familial hypertrophic cardiomyopathy-related point mutations in the β-cardiac/slow skeletal muscle myosin heavy chain (β-cardiac/MyHC-1). "
10/01/2012 - "One limitation in understanding how different familial hypertrophic cardiomyopathy (FHC)-related mutations lead to divergent cardiac phenotypes is that such mutations are often studied in transgenic (TG) mouse hearts which contain a fast cycling myosin heavy chain isoform (α-MHC). "
11/01/2011 - "Familial hypertrophic cardiomyopathy (FHC) is an autosomal dominant disease, which in about 30% of the patients is caused by missense mutations in one allele of the β-myosin heavy chain (β-MHC) gene (MYH7). "
12/02/2008 - "[Genetic heterogeneity of myosin heavy chain 7 gene G823E mutation in familial hypertrophic cardiomyopathy in Chinese]."
09/01/2004 - "To study the mechanisms by which missense mutations in alpha-tropomyosin cause familial hypertrophic cardiomyopathy, we generated transgenic rats overexpressing alpha-tropomyosin with one of two disease-causing mutations, Asp(175)Asn or Glu(180)Gly, and analyzed phenotypic changes at molecular, morphological, and physiological levels. "
10/04/2013 - "Decreasing tropomyosin phosphorylation rescues tropomyosin-induced familial hypertrophic cardiomyopathy."
09/21/2012 - "Familial hypertrophic cardiomyopathy related E180G mutation increases flexibility of human cardiac α-tropomyosin."
08/14/2012 - "Cardiac α-tropomyosin (Tm) single-site mutations D175N and E180G cause familial hypertrophic cardiomyopathy (FHC). "
08/14/2012 - "Long-range effects of familial hypertrophic cardiomyopathy mutations E180G and D175N on the properties of tropomyosin."
|3.||Heart Transplantation (Grafting, Heart)