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Letter regarding “SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain”—Navigating the pathogenicity of candidate gene mutations: Spotlight on paralog Nav genes

Journal of veterinary internal medicine, 2023-05, Vol.37 (3), p.791-792

2023

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Inherited bradyarrhythmia: A diverse genetic background

Journal of arrhythmia, 2016-10, Vol.32 (5), p.352-358

2016

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HCN4 pacemaker channels attenuate the parasympathetic response and stabilize the spontaneous firing of the sinoatrial node

The Journal of physiology, 2018-03, Vol.596 (5), p.809-825

2018

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Ligand-free trifluoromethylation of iodoarenes by use of 2-Aryl-2-trifluoromethylbenzimidazoline as new trifluoromethylating reagent

Journal of fluorine chemistry, 2019-03, Vol.219, p.29-31

2019

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Catalytic trifluoromethylation of iodoarenes by use of 2-trifluoromethylated benzimidazoline as trifluoromethylating reagent

Beilstein journal of organic chemistry, 2020-09, Vol.16 (1), p.2442-2447

2020

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Pathological Features of Lamin Cardiomyopathy

Circulation Journal, 2020/06/25, Vol.84(7), pp.1193

2020

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Pathological findings of myocardium in a patient with cardiac conduction defect associated with an SCN5A mutation

Medical molecular morphology, 2021-09, Vol.54 (3), p.259-264

2021

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Novel SCN3B Mutation Associated With Brugada Syndrome Affects Intracellular Trafficking and Function of Nav1.5

Circulation Journal, 2013, Vol.77(4), pp.959-967

2013

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TAD boundary deletion causes PITX2-related cardiac electrical and structural defects

Nature communications, 2024-04, Vol.15 (1), p.3380-3380, Article 3380

2024

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TBX5 R264K acts as a modifier to develop dilated cardiomyopathy in mice independently of T-box pathway

PloS one, 2020-04, Vol.15 (4), p.e0227393-e0227393

2020

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Dilated Cardiomyopathy-Associated FHOD3 Variant Impairs the Ability to Induce Activation of Transcription Factor Serum Response Factor

Circulation Journal, 2013, Vol.77(12), pp.2990-2996

2013

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Novel electrocardiographic criteria for short QT syndrome in children and adolescents

Europace (London, England), 2021-12, Vol.23 (12), p.2029-2038

2021

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Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death

Journal of human genetics, 2017-11, Vol.62 (11), p.989-995

2017

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Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers

Circulation. Cardiovascular genetics, 2017-12, Vol.10 (6)

2017

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Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population

Human genome variation, 2022-08, Vol.9 (1), p.28-28, Article 28

2022

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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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Identification of transmembrane protein 168 mutation in familial Brugada syndrome

The FASEB journal, 2020-05, Vol.34 (5), p.6399-6417

2020

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Clinical Manifestations and Long-Term Mortality in Lamin A/C Mutation Carriers From a Japanese Multicenter Registry

Circulation Journal, 2018/10/25, Vol.82(11), pp.2707-2714

2018

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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

The Journal of biological chemistry, 2010-10, Vol.285 (44), p.33680-33690

2010

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Nuclear accumulation of androgen receptor in gender difference of dilated cardiomyopathy due to lamin A/C mutations

Cardiovascular research, 2013-08, Vol.99 (3), p.382-394

2013

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Desmin‐related myopathy characterized by non‐compaction cardiomyopathy, cardiac conduction defect, and coronary artery dissection

ESC Heart Failure, 2020-06, Vol.7 (3), p.1338-1343

2020

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Letter regarding “SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain”—Navigating the pathogenicity of candidate gene mutations: Spotlight on paralog Nav genes

Inherited bradyarrhythmia: A diverse genetic background

Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome

HCN4 pacemaker channels attenuate the parasympathetic response and stabilize the spontaneous firing of the sinoatrial node

Ligand-free trifluoromethylation of iodoarenes by use of 2-Aryl-2-trifluoromethylbenzimidazoline as new trifluoromethylating reagent

Catalytic trifluoromethylation of iodoarenes by use of 2-trifluoromethylated benzimidazoline as trifluoromethylating reagent

Pathological Features of Lamin Cardiomyopathy

Pathological findings of myocardium in a patient with cardiac conduction defect associated with an SCN5A mutation

Novel SCN3B Mutation Associated With Brugada Syndrome Affects Intracellular Trafficking and Function of Nav1.5

TAD boundary deletion causes PITX2-related cardiac electrical and structural defects

TBX5 R264K acts as a modifier to develop dilated cardiomyopathy in mice independently of T-box pathway

Dilated Cardiomyopathy-Associated FHOD3 Variant Impairs the Ability to Induce Activation of Transcription Factor Serum Response Factor

Novel electrocardiographic criteria for short QT syndrome in children and adolescents

Targeted deep sequencing analyses of long QT syndrome in a Japanese population

Targeted deep sequencing analyses of long QT syndrome in a Japanese population

Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death

Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers

Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population

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

Sick sinus syndrome with HCN4 mutations shows early onset and frequent association with atrial fibrillation and left ventricular noncompaction

Identification of transmembrane protein 168 mutation in familial Brugada syndrome

Clinical Manifestations and Long-Term Mortality in Lamin A/C Mutation Carriers From a Japanese Multicenter Registry

Heart-specific Small Subunit of Myosin Light Chain Phosphatase Activates Rho-associated Kinase and Regulates Phosphorylation of Myosin Phosphatase Target Subunit 1

Nuclear accumulation of androgen receptor in gender difference of dilated cardiomyopathy due to lamin A/C mutations

Desmin‐related myopathy characterized by non‐compaction cardiomyopathy, cardiac conduction defect, and coronary artery dissection

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