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Hypertrophic Cardiomyopathy: Diverse Pathophysiology Revealed by Genetic Research, Toward Future Therapy

The Keio Journal of Medicine, 2020, Vol.69(4), pp.77-87

Hayashi, Takeharu

2020

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A Novel Titin Truncation Variant Linked to Familial Dilated Cardiomyopathy Found in a Japanese Family and Its Functional Analysis in Genome-Edited Model Cells

International Heart Journal, 2021/03/30, Vol.62(2), pp.359-366

2021

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Easy-Riding Compact Electric Shopping Vehicle

Journal of robotics and mechatronics, 2021-10, Vol.33 (5), p.1178-1189

2021

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Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy

Journal of human genetics, 2018-09, Vol.63 (9), p.989-996

2018

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Clinical and genetic backgrounds of hypertrophic cardiomyopathy with mid-ventricular obstruction

Journal of human genetics, 2018-12, Vol.63 (12), p.1273-1276

2018

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Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy

Journal of human genetics, 2018-02, Vol.63 (2), p.249-254

2018

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Pathogenic variant of RBM20 in a multiplex family with hypertrophic cardiomyopathy

Human genome variation, 2022-02, Vol.9 (1), p.6-6, Article 6

2022

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Barth syndrome associated with triple mutation

Pediatrics international, 2018-04, Vol.60 (4), p.385-387

2018

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Overexpression of heart-specific small subunit of myosin light chain phosphatase results in heart failure and conduction disturbance

American journal of physiology. Heart and circulatory physiology, 2018-06, Vol.314 (6), p.H1192-H1202

2018

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Role of HCN4 channel in preventing ventricular arrhythmia

Journal of human genetics, 2009-02, Vol.54 (2), p.115-121

2009

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Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant

Human genome variation, 2024-03, Vol.11 (1), p.14-14, Article 14

2024

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Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy

Journal of the American College of Cardiology, 2004-12, Vol.44 (11), p.2192-2201

2004

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Hypertrophic Cardiomyopathy: Diverse Pathophysiology Revealed by Genetic Research, Toward Future Therapy

The Keio Journal of Medicine, 2020, pp.2019-0012-OA

Hayashi, Takeharu

2020

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Functional Characterization of a Trafficking-defective HCN4 Mutation, D553N, Associated with Cardiac Arrhythmia

The Journal of biological chemistry, 2004-06, Vol.279 (26), p.27194-27198

2004

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Structural analysis of obscurin gene in hypertrophic cardiomyopathy

Biochemical and biophysical research communications, 2007-10, Vol.362 (2), p.281-287

2007

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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

Journal of human genetics, 2015-10, Vol.60 (10), p.641-645

2015

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A Cypher/ZASP Mutation Associated with Dilated Cardiomyopathy Alters the Binding Affinity to Protein Kinase C

The Journal of biological chemistry, 2004-02, Vol.279 (8), p.6746-6752

2004

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Titin Mutations as the Molecular Basis for Dilated Cardiomyopathy

Biochemical and biophysical research communications, 2002-02, Vol.291 (2), p.385-393

2002

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Structural analysis of four and half LIM protein-2 in dilated cardiomyopathy

Biochemical and biophysical research communications, 2007-05, Vol.357 (1), p.162-167

2007

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Three-dimensional geometric modeling of membrane-bound organelles in ventricular myocytes: Bridging the gap between microscopic imaging and mathematical simulation

Journal of structural biology, 2008-12, Vol.164 (3), p.304-313

2008

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Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy

Journal of muscle research and cell motility, 2005-12, Vol.26 (6-8), p.367-374

2005

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Delta-sarcoglycan gene therapy halts progression of cardiac dysfunction, improves respiratory failure, and prolongs life in myopathic hamsters

Circulation. Heart failure, 2011-01, Vol.4 (1), p.89-97

2011

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Ansa pancreatica as a predisposing factor for recurrent acute pancreatitis

World journal of gastroenterology : WJG, 2016-10, Vol.22 (40), p.8940-8948

2016

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Three-dimensional electron microscopy reveals new details of membrane systems for Ca²⁺ signaling in the heart

Journal of cell science, 2009-04, Vol.122 (7), p.1005-1013

2009

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Hypertrophic Cardiomyopathy: Diverse Pathophysiology Revealed by Genetic Research, Toward Future Therapy

A Novel Titin Truncation Variant Linked to Familial Dilated Cardiomyopathy Found in a Japanese Family and Its Functional Analysis in Genome-Edited Model Cells

Easy-Riding Compact Electric Shopping Vehicle

Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy

Clinical and genetic backgrounds of hypertrophic cardiomyopathy with mid-ventricular obstruction

Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy

Pathogenic variant of RBM20 in a multiplex family with hypertrophic cardiomyopathy

Barth syndrome associated with triple mutation

Overexpression of heart-specific small subunit of myosin light chain phosphatase results in heart failure and conduction disturbance

Role of HCN4 channel in preventing ventricular arrhythmia

Laminin-α4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells

Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant

Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy

Hypertrophic Cardiomyopathy: Diverse Pathophysiology Revealed by Genetic Research, Toward Future Therapy

Functional Characterization of a Trafficking-defective HCN4 Mutation, D553N, Associated with Cardiac Arrhythmia

Structural analysis of obscurin gene in hypertrophic cardiomyopathy

Screening of sarcomere gene mutations in young athletes with abnormal findings in electrocardiography: identification of a MYH7 mutation and MYBPC3 mutations

A Cypher/ZASP Mutation Associated with Dilated Cardiomyopathy Alters the Binding Affinity to Protein Kinase C

Titin Mutations as the Molecular Basis for Dilated Cardiomyopathy

Structural analysis of four and half LIM protein-2 in dilated cardiomyopathy

Three-dimensional geometric modeling of membrane-bound organelles in ventricular myocytes: Bridging the gap between microscopic imaging and mathematical simulation

Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy

Delta-sarcoglycan gene therapy halts progression of cardiac dysfunction, improves respiratory failure, and prolongs life in myopathic hamsters

Ansa pancreatica as a predisposing factor for recurrent acute pancreatitis

Three-dimensional electron microscopy reveals new details of membrane systems for Ca²⁺ signaling in the heart

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