Analysis of the sarcomere protein gene mutation on cardiomyopathy – Mutations in the cardiac troponin I gene
Tài liệu tham khảo
Rodriguez-Calvo, 2008, Molecular genetics of sudden cardiac death, Forensic Sci Int, 182, 1, 10.1016/j.forsciint.2008.09.013
Madea, 2009, Sudden death, especially in infancy – improvement of diagnosis by biochemistry, immunohistochemistry and molecular pathology, Legal Med, 11, S36, 10.1016/j.legalmed.2009.01.111
Nishio, 2008, Identification of a novel mutation of V2321M of the cardiac ryanodine receptor gene of sudden unexplained death and a phenotypic study of the gene mutations, Legal Med, 10, 196, 10.1016/j.legalmed.2007.12.003
Richardson, 1996, 1995 World Health Organization/International Society and Federation of Cardiology task force on the definition and classification of cardiomyopathies, Circulation, 93, 841, 10.1161/01.CIR.93.5.841
Marian, 2001, The molecular genetic basis for hypertrophic cardiomyopathy, J Mol Cell Cardiol, 33, 655, 10.1006/jmcc.2001.1340
Kimura, 1997, Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy, Nat Genet, 16, 379, 10.1038/ng0897-379
Kimura, 2001, Molecular etiology of idiopathic cardiomyopathy in Asian populations, J Cardiol, 37, 139
Fatkin, 2002, Molecular mechanisms of inherited cardiomyopathies, Physiol Rev, 82, 945, 10.1152/physrev.00012.2002
Takeda, 2003, Structure of the core domain of human cardiac troponin in the Ca2+-saturated form, Nature, 424, 35, 10.1038/nature01780
Vallins, 1990, Molecular cloning of human cardiac troponin I using polymerase chain reaction, FEBS Lett, 270, 57, 10.1016/0014-5793(90)81234-F
Zhang, 1995, Cardiac troponin I phosphorylation increases the rate of cardiac muscle relaxation, Circ Res, 76, 1028, 10.1161/01.RES.76.6.1028
Elliott, 2000, Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy, J Biol Chem, 275, 22069, 10.1074/jbc.M002502200
Takahashi-Yanaga, 2001, Functional consequences of the mutations in human cardiac troponin I gene found in familial hypertrophic cardiomyopathy, J Mol Cell Cardiol, 33, 2095, 10.1006/jmcc.2001.1473
MaKenna, 1994, Br Heart J, 71, 215, 10.1136/hrt.71.3.215
Shimizu, 2005, Gene mutations in adult Japanese patients with dilated cardiomyopathy, Circ J, 69, 150, 10.1253/circj.69.150
Murphy, 2004, Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy, Lancet, 363, 371, 10.1016/S0140-6736(04)15468-8
Morimoto, 2002, Ca2+-desensitizing effect of a deletion mutation Δk210 in cardiac troponin T that causes familial dilated cardiomyopathy, Proc Natl Acad Sci USA, 99, 913, 10.1073/pnas.022628899
Kobayashi, 2006, Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I, J Biol Chem, 281, 13471, 10.1074/jbc.M509561200
Biesiadecki, 2007, The troponin C G159D mutation blunts myofilament desensitization induced by troponin I Ser23/24 phosphorylation, Circ Res, 100, 1486, 10.1161/01.RES.0000267744.92677.7f
Tao, 1990, Calcium-induced movement of troponin-I relative to actin in skeletal muscle thin filaments, Science, 247, 1339, 10.1126/science.2138356
Arad, 2005, Gene mutations in apical hypertrophic cardiomyopathy, Circulation, 112, 2805, 10.1161/CIRCULATIONAHA.105.547448
Malhotra, 1997, Expression and regulation of mutant forms of cardiac TnI in a reconstituted actomyosin system: role of kinase dependent phosphorylation, Mol Cell Biochem, 170, 99, 10.1023/A:1006865600519
Robberson, 1990, Exon definition may facilitate splice site selection in RNAs with multiple exons, Mol Cell Biol, 10, 84, 10.1128/MCB.10.1.84
Sterner, 1993, In vivo recognition of a vertebrate mini-exon as an exon–intron–exon unit, Mol Cell Biol, 13, 2677, 10.1128/MCB.13.5.2677