Search Results - "ARIMURA, Takuro"
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Cardiac Ankyrin Repeat Protein Gene ( ANKRD1 ) Mutations in Hypertrophic Cardiomyopathy
Published in Journal of the American College of Cardiology (21-07-2009)“…Objectives The purpose of this study was to explore a novel disease gene for hypertrophic cardiomyopathy (HCM) and to evaluate functional alterations caused by…”
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Novel SCN3B Mutation Associated With Brugada Syndrome Affects Intracellular Trafficking and Function of Nav1.5
Published in Circulation Journal (2013)“…Background: Brugada syndrome (BrS) is characterized by specific alterations on ECG in the right precordial leads and associated with ventricular arrhythmia…”
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Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy
Published in The Journal of clinical investigation (01-05-2007)“…Mutations in LMNA, which encodes nuclear Lamins A and C cause diseases affecting various organs, including the heart. We have determined the effects of an Lmna…”
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ANKRD1 , the Gene Encoding Cardiac Ankyrin Repeat Protein, Is a Novel Dilated Cardiomyopathy Gene
Published in Journal of the American College of Cardiology (21-07-2009)“…Objectives We evaluated ankyrin repeat domain 1 ( ANKRD1) , the gene encoding cardiac ankyrin repeat protein (CARP), as a novel candidate gene for dilated…”
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5
Autophagic degradation of nuclear components in mammalian cells
Published in Autophagy (16-08-2009)“…Autophagy is an evolutionally conserved intracellular mechanism for the degradation of organelles and proteins. Here we demonstrate the presence of perinuclear…”
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Endothelin‐1 Induces Myofibrillar Disarray and Contractile Vector Variability in Hypertrophic Cardiomyopathy–Induced Pluripotent Stem Cell–Derived Cardiomyocytes
Published in Journal of the American Heart Association (11-11-2014)“…Background Despite the accumulating genetic and molecular investigations into hypertrophic cardiomyopathy (HCM), it remains unclear how this condition develops…”
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Replication of the association between a chromosome 9p21 polymorphism and coronary artery disease in Japanese and Korean populations
Published in Journal of human genetics (01-04-2008)“…Coronary artery disease (CAD) has become a major health problem in many countries. Recent genome-wide association studies have identified the association…”
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Prevalence and Distribution of Sarcomeric Gene Mutations in Japanese Patients With Familial Hypertrophic Cardiomyopathy
Published in Circulation Journal (2012)“…Background: Hypertrophic cardiomyopathy (HCM), which is inherited as an autosomal dominant trait, is the most prevalent hereditary cardiac disease. Although…”
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Dilated Cardiomyopathy-Associated FHOD3 Variant Impairs the Ability to Induce Activation of Transcription Factor Serum Response Factor
Published in Circulation Journal (2013)“…Background: Dilated cardiomyopathy (DCM) is characterized by a dilated left ventricular cavity with systolic dysfunction manifested by heart failure. It has…”
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Overexpression of heart-specific small subunit of myosin light chain phosphatase results in heart failure and conduction disturbance
Published in American journal of physiology. Heart and circulatory physiology (01-06-2018)“…Mutations in genes encoding components of the sarcomere cause cardiomyopathy, which is often associated with abnormal Ca sensitivity of muscle contraction. We…”
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Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations
Published in Human molecular genetics (01-05-2012)“…Abnormalities in Z-disc proteins cause hypertrophic (HCM), dilated (DCM) and/or restrictive cardiomyopathy (RCM), but disease-causing mechanisms are not fully…”
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DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death
Published in Human molecular genetics (01-03-2012)“…The LMNA gene encodes lamin A/C intermediate filaments that polymerize beneath the nuclear membrane, and are also found in the nucleoplasm in an…”
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Perturbation of the titin/MURF1 signaling complex is associated with hypertrophic cardiomyopathy in a fish model and in human patients
Published in Disease models & mechanisms (15-11-2019)“…Hypertrophic cardiomyopathy (HCM) is a hereditary disease characterized by cardiac hypertrophy with diastolic dysfunction. Gene mutations causing HCM have been…”
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Heart-specific Small Subunit of Myosin Light Chain Phosphatase Activates Rho-associated Kinase and Regulates Phosphorylation of Myosin Phosphatase Target Subunit 1
Published in The Journal of biological chemistry (29-10-2010)“…Phosphorylation of myosin regulatory light chain (MLC) plays a regulatory role in muscle contraction, and the level of MLC phosphorylation is balanced by MLC…”
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Nebulette Mutations Are Associated With Dilated Cardiomyopathy and Endocardial Fibroelastosis
Published in Journal of the American College of Cardiology (26-10-2010)“…Objectives Four variants (K60N, Q128R, G202R, and A592E) in the nebulette gene were identified in patients with dilated cardiomyopathy (DCM) and endocardial…”
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Nuclear accumulation of androgen receptor in gender difference of dilated cardiomyopathy due to lamin A/C mutations
Published in Cardiovascular research (01-08-2013)“…Dilated cardiomyopathy (DCM) is characterized by ventricular dilation associated with systolic dysfunction, which could be caused by mutations in lamina/C gene…”
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Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy
Published in Journal of the American College of Cardiology (07-12-2004)“…We sought to explore the relationship between a Tcap gene (TCAP)abnormality and cardiomyopathy. Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy…”
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Functional Characterization of a Trafficking-defective HCN4 Mutation, D553N, Associated with Cardiac Arrhythmia
Published in The Journal of biological chemistry (25-06-2004)“…Hyperpolarization-activated cyclic nucleotide-gated channel 4 gene HCN4 is a pacemaker channel that plays a key role in automaticity of sinus node in the…”
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Screening of sarcomere gene mutations in young athletes with abnormal findings in electrocardiography: identification of a MYH7 mutation and MYBPC3 mutations
Published in Journal of human genetics (01-10-2015)“…There is an overlap between the physiological cardiac remodeling associated with training in athletes, the so-called athlete's heart, and mild forms of…”
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Structural analysis of obscurin gene in hypertrophic cardiomyopathy
Published in Biochemical and biophysical research communications (19-10-2007)“…Hypertrophic cardiomyopathy (HCM) is a cardiac disease characterized by left ventricular hypertrophy with diastolic dysfunction. Molecular genetic studies have…”
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