Naomasa Makita
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View article: Atf3 controls transitioning in female mitochondrial cardiomyopathy as identified by spatial and single-cell transcriptomics
Atf3 controls transitioning in female mitochondrial cardiomyopathy as identified by spatial and single-cell transcriptomics Open
Oxidative phosphorylation defects result in now intractable mitochondrial diseases (MD) with cardiac involvement markedly affecting prognosis. The mechanisms underlying the transition from compensation to dysfunction in response to metabol…
View article: Atypical Holt-Oram syndrome: Early-onset sick sinus syndrome in a Japanese family with a novel TBX5 mutation, Q469*
Atypical Holt-Oram syndrome: Early-onset sick sinus syndrome in a Japanese family with a novel TBX5 mutation, Q469* Open
View article: Screening of 1-Month-Old Infants With Prolonged QT Interval and Its Cutoff Value
Screening of 1-Month-Old Infants With Prolonged QT Interval and Its Cutoff Value Open
The prevalence of ECG-determined pQTc is approximately 1 : 1,000. An abrupt increase in QTc(B) values occurs in infants at high risk, mostly at 6-11 weeks after birth. A cutoff QTc(B) value ≥0.45 may be appropriate for 1-month-old screenin…
View article: Correction: Targeted deep sequencing analyses of long QT syndrome in a Japanese population
Correction: Targeted deep sequencing analyses of long QT syndrome in a Japanese population Open
[This corrects the article DOI: 10.1371/journal.pone.0277242.].
View article: TAD boundary deletion causes PITX2-related cardiac electrical and structural defects
TAD boundary deletion causes PITX2-related cardiac electrical and structural defects Open
View article: Population-specific and cross-ancestry genome-wide association study identifies shared genetic architecture and 6 new risk loci including CAMK2D associated for Brugada syndrome
Population-specific and cross-ancestry genome-wide association study identifies shared genetic architecture and 6 new risk loci including CAMK2D associated for Brugada syndrome Open
Introduction The Brugada syndrome (BrS) is an inherited arrhythmia characterized by coved-type ST-segment elevation in the right precordial leads and an increased risk for sudden cardiac death. Genome-wide association studies (GWAS) of BrS…
View article: Modeling familial sinus node dysfunction with a large intergenic deletion between PITX2 and ANK2 using iPS cell-derived sinoatrial nodal-like cardiomyocytes
Modeling familial sinus node dysfunction with a large intergenic deletion between PITX2 and ANK2 using iPS cell-derived sinoatrial nodal-like cardiomyocytes Open
Background Pituitary homeobox 2 (PITX2) encoded by PITX2, is one of the transcription factors and plays an important role in establishing the left-right axis during development. In the heart, PITX2 inhibits the development of the sinoatria…
View article: Atf3 controls transitioning in female mitochondrial cardiomyopathy as identified by single-cell transcriptomics
Atf3 controls transitioning in female mitochondrial cardiomyopathy as identified by single-cell transcriptomics Open
Summary Oxidative phosphorylation defects results in mitochondrial diseases, with cardiac involvement markedly impacting prognosis. However, the mechanisms underlying the transition from compensation to dysfunction in response to metabolic…
View article: Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry
Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry Open
Aims Calmodulinopathy due to mutations in any of the three CALM genes (CALM1–3) causes life-threatening arrhythmia syndromes, especially in young individuals. The International Calmodulinopathy Registry (ICalmR) aims to define and link the…
View article: Ventricular conduction is a marker for arrhythmic risk in overlap sodium channel disease
Ventricular conduction is a marker for arrhythmic risk in overlap sodium channel disease Open
Funding Acknowledgements Type of funding sources: Public Institution(s). Main funding source(s): National Institute of Health Research St George's, University of London Background SCN5A-E1784K (c.5350G>A) is the most common variant asso…
View article: EN-452414-5 VENTRICULAR CONDUCTION IS A MARKER FOR ARRHYTHMIC RISK IN OVERLAP SODIUM CHANNEL DISEASE
EN-452414-5 VENTRICULAR CONDUCTION IS A MARKER FOR ARRHYTHMIC RISK IN OVERLAP SODIUM CHANNEL DISEASE Open
View article: Targeted deep sequencing analyses of long QT syndrome in a Japanese population
Targeted deep sequencing analyses of long QT syndrome in a Japanese population Open
Long QT syndrome (LQTS) is one of the most common inherited arrhythmias and multiple genes have been reported as causative. Presently, genetic diagnosis for LQTS patients is becoming widespread and contributing to implementation of therapi…
View article: Disrupted CaV1.2 selectivity causes overlapping long QT and Brugada syndrome phenotypes in the CACNA1C-E1115K iPS cell model
Disrupted CaV1.2 selectivity causes overlapping long QT and Brugada syndrome phenotypes in the CACNA1C-E1115K iPS cell model Open
View article: Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population
Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population Open
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary cardiomyopathy that results in fatal arrhythmias and heart failure. Herein, we report a Japanese patient with ARVC whose parents were blood relatives. Genetic testing i…
View article: Progressive atrial myocardial fibrosis in a 4-year-old girl with atrial standstill associated with an SCN5A gene mutation
Progressive atrial myocardial fibrosis in a 4-year-old girl with atrial standstill associated with an SCN5A gene mutation Open
View article: European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases
European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases Open
View article: European Heart Rhythm Association (<scp>EHRA</scp>)/Heart Rhythm Society (<scp>HRS</scp>)/Asia Pacific Heart Rhythm Society (<scp>APHRS</scp>)/Latin American Heart Rhythm Society (<scp>LAHRS</scp>) Expert Consensus Statement on the state of genetic testing for cardiac diseases
European Heart Rhythm Association (<span>EHRA</span>)/Heart Rhythm Society (<span>HRS</span>)/Asia Pacific Heart Rhythm Society (<span>APHRS</span>)/Latin American Heart Rhythm Society (<span>LAHRS</span>) Expert Consensus Statement on the state of genetic testing for cardiac diseases Open
Genetic testing has advanced significantly since the publication of the 2011 HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies.1 In addition to single-gene testing, there is no…
View article: European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases
European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases Open
International audience
View article: Rotors anchored by refractory islands drive torsades de pointes in an experimental model of electrical storm
Rotors anchored by refractory islands drive torsades de pointes in an experimental model of electrical storm Open
View article: Novel variant of the glycerol-3-phosphate dehydrogenase-1 Like (GPD1-L) gene in Japanese Brugada syndrome patients
Novel variant of the glycerol-3-phosphate dehydrogenase-1 Like (GPD1-L) gene in Japanese Brugada syndrome patients Open
Background The incidence of Brugada syndrome (BrS) varies among racial groups. Several studies reported Glycerol-3-Phosphate Dehydrogenase 1-Like (GPD1-L) gene is associated with BrS. However, most of these studies were reported from Weste…
View article: Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare <i>KCNH2</i> Variants
Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare <i>KCNH2</i> Variants Open
Background: The proliferation of genetic profiling has revealed many associations between genetic variations and disease. However, large-scale phenotyping efforts in largely healthy populations, coupled with DNA sequencing, suggest variant…
View article: A Case Report: Two Young Children with Long QT Syndrome Type-2 Diagnosed by Presymptomatic Genetic Testing
A Case Report: Two Young Children with Long QT Syndrome Type-2 Diagnosed by Presymptomatic Genetic Testing Open
Long QT syndromes (LQTSs) can lead to sudden cardiac death, yet these syndromes are often asymptomatic and clinically undetected, despite the prolongation of the QT interval. Currently, when a disease-causing variant is identified in an in…
View article: <i>SCN5A</i> Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in <i>SCN5A</i> Families
<i>SCN5A</i> Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in <i>SCN5A</i> Families Open
Background: Brugada syndrome (BrS) is characterized by the type 1 Brugada ECG pattern. Pathogenic rare variants in SCN5A (mutations) are identified in 20% of BrS families in whom incomplete penetrance and genotype-negative phenotype-positi…
View article: Systematic Evaluation of <i>KCNQ1</i> Variant Using ACMG/AMP Guidelines and Risk Stratification in Long QT Syndrome Type 1
Systematic Evaluation of <i>KCNQ1</i> Variant Using ACMG/AMP Guidelines and Risk Stratification in Long QT Syndrome Type 1 Open
Background - Mutation/variant-site specific risk stratification in long-QT syndrome type 1 (LQT1) has been well investigated, but it is still challenging to adapt current enormous genomic information to clinical aspects caused by each muta…
View article: Cardiac Emerinopathy
Cardiac Emerinopathy Open
Background: Mutations in the nuclear envelope genes encoding LMNA and EMD are responsible for Emery-Dreifuss muscular dystrophy. However, LMNA mutations often manifest dilated cardiomyopathy with conduction disturbance without obvious skel…
View article: Dynamic QT response to cold‐water face immersion in long‐QT syndrome type 3
Dynamic QT response to cold‐water face immersion in long‐QT syndrome type 3 Open
Background Abnormal dynamics of QT intervals in response to sympathetic nervous system stimulation are used to diagnose long‐QT syndrome (LQTS). We hypothesized that parasympathetic stimulation with cold‐water face immersion following exer…
View article: Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome
Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome Open
Background: Long QT syndrome (LQTS) is a rare genetic disorder and a major preventable cause of sudden cardiac death in the young. A causal rare genetic variant with large effect size is identified in up to 80% of probands (genotype positi…
View article: Pathological Features of Lamin Cardiomyopathy
Pathological Features of Lamin Cardiomyopathy Open
membrane of myocytes (Figure C), and disruption of the nuclear membrane (Figure D).Genetic analysis revealed a heterozygous splicing mutation (IVS1+1G>A) of the lamin gene (LMNA) in both the proband and her 26-yearold son, who recorded a n…
View article: TBX5 R264K acts as a modifier to develop dilated cardiomyopathy in mice independently of T-box pathway
TBX5 R264K acts as a modifier to develop dilated cardiomyopathy in mice independently of T-box pathway Open
Mice homozygous for Tbx5 R264K showed compensated dilated cardiomyopathy. Thus, TBX5 R264K may have a significant pathogenic role in some cardiomyopathy patients independently of T-box domain pathway.
View article: Desmin‐related myopathy characterized by non‐compaction cardiomyopathy, cardiac conduction defect, and coronary artery dissection
Desmin‐related myopathy characterized by non‐compaction cardiomyopathy, cardiac conduction defect, and coronary artery dissection Open
Desmin‐related myopathy (DRM) is a rare heritable cardiac and skeletal muscle disease caused by mutations in the desmin gene ( DES ). DRM is generally characterized by skeletal muscle weakness, conduction disturbance, and dilated cardiomyo…