Seiko Ohno 研究室

主宰者：Seiko Ohno

同志社大学

AI 要約（直近 5 年の研究成果）

Seiko Ohno研究室は、遺伝性不整脈疾患と関連する心臓病の原因解明と臨床応用を中心に研究を展開しています。特に、特定の遺伝子変異が心臓の電気的・構造的異常を引き起こすメカニズムを調査しており、ブルガダ症候群や長QT症候群、短QT症候群といった突然死のリスクが高い疾患を研究対象としています。患者の血液検査から原因遺伝子を同定し、その変異がもたらす機能的な影響を評価することで、疾患の重症度や予後を予測する手法の開発に取り組んでいます。研究の手法としては、患者由来の検体に対する遺伝子解析と、電気生理学的測定技術である電位固定法（パッチクランプ）を組み合わせ、変異体タンパク質の機能変化を詳細に調べています。また、遺伝子改変マウスやゼブラフィッシュなどの実験動物モデルを作製し、個々の遺伝子変異が生体レベルでどのような心臓異常を引き起こすかを検証しています。さらに、乳幼児スクリーニングなどの大規模臨床調査も実施し、疾患の早期発見と診断基準の確立に貢献しています。これらの研究成果は、遺伝子型と臨床経過の関係を明らかにすることで、より正確な患者層別化や治療方針決定の基盤となることが期待されています。

※ AI（Claude）が、公開されている論文要旨から研究の問い・手法・主要な発見を事実情報として抽出・再構成して自動生成しています。誤りを含む可能性があるため、正確性は研究室公式情報でご確認ください。

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研究成果（92 件）

[2026] Publisher Correction: Response to: “Distinct associations of blood pressure phenotypes with subclinical cerebrovascular disease and coronary artery calcification in Japanese men”
DOI: https://doi.org/10.1038/s41440-026-02709-2
[2026] Response to: “Distinct associations of blood pressure phenotypes with subclinical cerebrovascular disease and coronary artery calcification in Japanese men”
DOI: https://doi.org/10.1038/s41440-026-02668-8
[2025] Long-term follow-up of patients with catecholaminergic polymorphic ventricular tachycardia related to a novel CALM2 variant
DOI: https://doi.org/10.1016/j.jccase.2025.09.003
[2025] Novel Loss-of-Function Variant, Cys1384Phe, in SCN5A Is Associated With an Overlapping Phenotype of Brugada Syndrome, Sick Sinus Syndrome, and Dilated Cardiomyopathy
DOI: https://doi.org/10.1253/circj.cj-25-0283
[2025] Long-Term Arrhythmic Outcomes of KCNJ2 Variant Carriers in Japan
DOI: https://doi.org/10.1161/circgen.125.005188
[2025] Biventricular Dysfunction in Knock-in Mice With Dsg2 Variants Specific for Japanese Arrhythmogenic Right Ventricular Cardiomyopathy
DOI: https://doi.org/10.1253/circj.cj-25-0269
[2025] Congenital Short QT Syndrome　― Review Focused on KCNQ1 p.Val141Met Variant ―
DOI: https://doi.org/10.1253/circj.cj-24-0927
[2025] The Impact of Gut Veillonella on Skeletal Muscle Mass in Patients With COPD
DOI: https://doi.org/10.1164/ajrccm.2025.211.abstracts.a7303
[2025] Atypical Holt-Oram syndrome: Early-onset sick sinus syndrome in a Japanese family with a novel TBX5 mutation, Q469*
DOI: https://doi.org/10.1016/j.jccase.2025.03.003
[2025] PO-01-204 COMPOUND HETEROZYGOUS FRAMESHIFT VARIANTS IN DSC2 CONFIRMED BY A LONG-READ SEQUENCER IN A HEART TRANSPLANT RECIPIENT WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY
DOI: https://doi.org/10.1016/j.hrthm.2025.03.461

続きを表示（残り 82 件）

[2025] PO-05-103 CLINICAL AND GENETIC ASPECTS OF LONG-QT SYNDROME: EVIDENCE FROM A NATIONWIDE LQTS REGISTRY IN JAPAN
DOI: https://doi.org/10.1016/j.hrthm.2025.03.1501
[2025] PO-02-108 UNVEILING THE ROLE OF GENETIC TESTING IN PREDICTING LIFE-THREATENING ARRHYTHMIAS AND CARDIOMYOPATHIES IN ATRIAL FIBRILLATION PATIENTS
DOI: https://doi.org/10.1016/j.hrthm.2025.03.590
[2025] Case report: Severe arrhythmogenic cardiomyopathy in a young girl with compound heterozygous DSG2 and MYBPC3 variants with a 6-year follow-up
DOI: https://doi.org/10.3389/fgene.2025.1545561
[2025] Screening of 1-Month-Old Infants With Prolonged QT Interval and Its Cutoff Value
DOI: https://doi.org/10.1253/circj.cj-24-0148
[2025] Functional and pharmacological investigation of novel and de novo KCND3 variants identified in patients with neurodevelopmental disorders
DOI: https://doi.org/10.1038/s10038-025-01423-0
[2025] SCN5A variant type-dependent risk prediction in Brugada syndrome
DOI: https://doi.org/10.1093/europace/euaf024
[2025] Characterization of a Splice-Altering Variant in SCN5A Associated With Brugada Syndrome　― Insights Into Splice Error Correction ―
DOI: https://doi.org/10.1253/circj.cj-25-0447
[2024] PO-01-077 IDENTIFYING NOVEL DISEASE MODIFIERS IN PATIENTS WITH CONGENITAL LONG QT SYNDROME
DOI: https://doi.org/10.1016/j.hrthm.2024.03.668
[2024] BS-469619-003 GRANULAR VARIANT-SPECIFIC FEATURES IMPROVE KCNH2-LONG QT SYNDROME RISK STRATIFICATION
DOI: https://doi.org/10.1016/j.hrthm.2024.03.363
[2024] An international multicenter cohort study on implantable cardioverter-defibrillators for the treatment of symptomatic children with catecholaminergic polymorphic ventricular tachycardia
DOI: https://doi.org/10.1016/j.hrthm.2024.04.006
[2024] TAD boundary deletion causes PITX2-related cardiac electrical and structural defects
DOI: https://doi.org/10.1038/s41467-024-47739-x
[2024] Cardiomyopathy with an LMNA Genetic Variant Affecting Three Consecutive Generations: A Case Series
DOI: https://doi.org/10.2169/internalmedicine.1701-23
[2024] Response to Letter to the Editor: "How to Screen and Manage Suspected Laminopathy"
DOI: https://doi.org/10.2169/internalmedicine.3959-24
[2024] Abstract 4139769: Fluoxetine, a Novel Therapeutic Strategy for Early Repolarization Syndrome Caused by a KCND3 Gain-of-Function Variant
DOI: https://doi.org/10.1161/circ.150.suppl_1.4139769
[2024] Sex-specific clinical course of young patients with Brugada syndrome
DOI: https://doi.org/10.1093/eurheartj/ehae739
[2024] Episodic long-lasting atrial standstill associated with an SCN5A variant resulting in atrial pacing failure: Is an atrial lead necessary for familial atrial standstill?
DOI: https://doi.org/10.1016/j.hrcr.2024.10.004
[2024] Clinical Features, Long-Term Prognosis, and Clinical Management of Genotype-Negative Long QT Syndrome Patients
DOI: https://doi.org/10.1016/j.jacep.2024.07.022
[2024] Characterization of knock-in zebrafish models with a novel SLC4A3 variant identified in a short QT syndrome family
DOI: https://doi.org/10.1093/eurheartj/ehae666.3674
[2024] A case of pulmonary co-infection with Aspergillus fumigatus and Mucorales in a patient with sarcoidosis
DOI: https://doi.org/10.1016/j.rmcr.2024.102130
[2024] Mexiletine shortened QTc interval in an age-dependent manner but suppressed ventricular arrhythmias at all age in children with long QT syndrome type 8
DOI: https://doi.org/10.1093/eurheartj/ehae666.366
[2024] Amplicon-based long-read sequencing is useful for confirming zygosity of DSG2 variants associated with Japanese ARVC
DOI: https://doi.org/10.1093/eurheartj/ehae666.2068
[2024] Multiplexed Assays of Variant Effect and Automated Patch Clamping Improve KCNH2 -LQTS Variant Classification and Cardiac Event Risk Stratification
DOI: https://doi.org/10.1161/circulationaha.124.069828
[2024] Association between the gut microbiome and low skeletal muscle mass in patients with COPD
DOI: https://doi.org/10.1183/13993003.congress-2024.pa4456
[2024] POS1015 SHARED DECISION-MAKING ENHANCES TRUST IN PHYSICIANS IN THE CLINICAL PRACTICE OF SYSTEMIC LUPUS ERYTHEMATOSUS: THE TRUMP2-SLE PROSPECTIVE STUDY
DOI: https://doi.org/10.1136/annrheumdis-2024-eular.1607
[2024] Clinical characterization of type 1 long QT syndrome caused by C-terminus Kv7.1 variants
DOI: https://doi.org/10.1016/j.hrthm.2024.02.021
[2024] Molecular Autopsy With Banked Cord Blood Reveals Brugada Syndrome in Past Sudden Death Case
DOI: https://doi.org/10.1542/peds.2023-063054
[2024] Novel Compound Heterozygous Variants in Trans-2,3-Enoyl-Coenzyme A Reductase-Like Gene Associated With Catecholaminergic Polymorphic Ventricular Tachycardia
DOI: https://doi.org/10.1016/j.jaccas.2024.102364
[2023] Flecainide Is Associated With a Lower Incidence of Arrhythmic Events in a Large Cohort of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia
DOI: https://doi.org/10.1161/circulationaha.123.064786
[2023] Association Between Deleterious SCN5A Variants and Ventricular Septal Defect in Young Patients With Brugada Syndrome
DOI: https://doi.org/10.5105/jse.43.225
[2023] Holter Electrocardiographic Approach to Predicting Outcomes of Pediatric Patients With Long QT Syndrome
DOI: https://doi.org/10.1253/circj.cj-23-0409
[2023] Abstract 13422: A Family With KCNH2 and SLC4A3 Mutation of Short QT Syndrome Inducing Frequent Sudden Death in Young Age
DOI: https://doi.org/10.1161/circ.148.suppl_1.13422
[2023] Homozygous or compound heterozygous variants in DSG2 are mainly causative of Japanese arrhythmogenic right ventricular cardiomyopathy
DOI: https://doi.org/10.1093/eurheartj/ehad655.612
[2023] Modeling familial sinus node dysfunction with a large intergenic deletion between PITX2 and ANK2 using iPS cell-derived sinoatrial nodal-like cardiomyocytes
DOI: https://doi.org/10.1093/eurheartj/ehad655.268
[2023] The dominant-negative effect of Loss of function Nav 1.5 variants is not a critical determinant of phenotype severity
DOI: https://doi.org/10.1093/eurheartj/ehad655.3180
[2023] Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry
DOI: https://doi.org/10.1093/eurheartj/ehad418
[2023] Calmodulinopathy in Japanese Children　― Their Cardiac Phenotypes Are Severe and Show Early Onset in Fetal Life and Infancy ―
DOI: https://doi.org/10.1253/circj.cj-23-0195
[2023] PO-01-243 GAIN-OF-FUNCTION VARIANTS IDENTIFIED IN YOUNG PATIENTS WITH REFRACTORY EPILEPSY MIGHT BE A CAUSE OF SUDDEN UNEXPECTED DEATH IN EPILEPSY
DOI: https://doi.org/10.1016/j.hrthm.2023.03.539
[2023] PO-04-166 DISTURBED PH CONTROL BY A NOVEL VARIANT IDENTIFIED IN A SHORT QT SYNDROME FAMILY WITH A VARIANT
DOI: https://doi.org/10.1016/j.hrthm.2023.03.1193
[2023] PO-01-177 LONG-TERM PROGNOSIS OF PATIENTS WITH CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA IN JAPAN
DOI: https://doi.org/10.1016/j.hrthm.2023.03.515
[2023] EN-452414-5 VENTRICULAR CONDUCTION IS A MARKER FOR ARRHYTHMIC RISK IN OVERLAP SODIUM CHANNEL DISEASE
DOI: https://doi.org/10.1016/j.hrthm.2023.03.415
[2023] Meningitis caused by Chromobacterium haemolyticum suspected to be derived from a canal in Japan: a case report
DOI: https://doi.org/10.1186/s13256-023-03913-1
[2023] Non-missense variants ofKCNH2show better outcomes in type 2 long QT syndrome
DOI: https://doi.org/10.1093/europace/euac269
[2023] Novel Calmodulin Variant p.E46K Associated With Severe Catecholaminergic Polymorphic Ventricular Tachycardia Produces Robust Arrhythmogenicity in Human Induced Pluripotent Stem Cell–Derived Cardiomyocytes
DOI: https://doi.org/10.1161/circep.122.011387
[2023] Retracted: Computerized misinterpretation of <scp>QT</scp> interval in 12‐lead electrocardiogram and its clinical consequences: A case of recurrent syncope
DOI: https://doi.org/10.1002/joa3.12817
[2022] Loss-of-function RyR2 mutations cause various types of arrhythmias through divergent abnormal Ca2+ signaling
DOI: https://doi.org/10.1254/jpssuppl.95.0_3-o-108
[2022] Targeted deep sequencing analyses of long QT syndrome in a Japanese population
DOI: https://doi.org/10.1371/journal.pone.0277242
[2022] PO-616-04 A NOVEL CPVT-ASSOCIATED CALMODULIN MUTATION CAUSES SEVERE CA2+ LEAKAGE FROM SARCOPLASMIC RETICULUM IN IPSC MODEL BY ACTIVATING THE CARDIAC RYANODINE RECEPTORS
DOI: https://doi.org/10.1016/j.hrthm.2022.03.800
[2022] Case report of a ventricular fibrillation storm with a cardiac conduction disorder and HCN4 variant 18 years after ablation of atrial flutter
DOI: https://doi.org/10.1093/ehjcr/ytac431
[2022] Continuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathies
DOI: https://doi.org/10.1016/j.gim.2022.12.002
[2022] School-based routine screenings of electrocardiograms for the diagnosis of long QT syndrome.
DOI: https://doi.org/10.1093/europace/euab320
[2022] Desmoglein 2 mutant mice reproduce arrhythmogenic right ventricular cardiomyopathy patients' phenotype
DOI: https://doi.org/10.1093/eurheartj/ehac544.2967
[2022] Different prognosis of ARVC patients between DSG2 and PKP2 variant carriers
DOI: https://doi.org/10.1093/eurheartj/ehac544.1753
[2022] Calmodulinopathy is a common cause of critical cardiac phenotypes in fetus and infancy
DOI: https://doi.org/10.1093/eurheartj/ehac544.667
[2022] Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly
DOI: https://doi.org/10.1038/s41598-022-23512-2
[2022] Arrhythmogenic right-ventricular cardiomyopathy with plakophilin-2 genetic variant concomitant with early manifestation of ventricular tachyarrhythmia: a case series
DOI: https://doi.org/10.1093/ehjcr/ytac397
[2022] Disrupted CaV1.2 selectivity causes overlapping long QT and Brugada syndrome phenotypes in the CACNA1C-E1115K iPS cell model
DOI: https://doi.org/10.1016/j.hrthm.2022.08.021
[2022] CI-563-04 EFFECTS OF AGE AND SEX ON CLINICAL AND ELECTROCARDIOGRAPHIC FEATURES IN YOUNG PATIENTS WITH BRUGADA SYNDROME
DOI: https://doi.org/10.1016/j.hrthm.2022.03.734
[2022] Cytosolic Ca2+-dependent Ca2+ release activity primarily determines the ER Ca2+ level in cells expressing the CPVT-linked mutant RYR2
DOI: https://doi.org/10.1085/jgp.202112869
[2022] 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
DOI: https://doi.org/10.1093/europace/euac030
[2022] 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
DOI: https://doi.org/10.1016/j.hrthm.2022.03.1225
[2022] Association Between Deleterious SCN5A Variants and Ventricular Septal Defect in Young Patients With Brugada Syndrome
DOI: https://doi.org/10.1016/j.jacep.2022.01.007
[2022] Impact of cascade screening for catecholaminergic polymorphic ventricular tachycardia type 1
DOI: https://doi.org/10.1136/heartjnl-2021-320220
[2022] Differential impacts of arrhythmia-linked loss-of-function RyR2 mutations on Ca2+ signaling in cardiac cells
DOI: https://doi.org/10.1016/j.bpj.2021.11.1861
[2022] Successful Management of a Young Athlete with Type 2 Long QT Syndrome by Genotype-specific Risk Stratification and Bridging Therapy with a Wearable Cardioverter Defibrillator
DOI: https://doi.org/10.2169/internalmedicine.8093-21
[2022] 遺伝子に刻まれた旅の記憶
DOI: https://doi.org/10.5105/jse.42.201
[2021] Correction: Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients
DOI: https://doi.org/10.1371/journal.pone.0243476
[2021] Diagnostic value of P-waves in children with idiopathic restrictive cardiomyopathy
DOI: https://doi.org/10.1007/s00380-021-01784-4
[2021] Relationships of Alcohol Consumption with Coronary Risk Factors and Macro- and Micro-Nutrient Intake in Japanese People: The INTERLIPID Study
DOI: https://doi.org/10.3177/jnsv.67.28
[2021] Loss-of-function mutations in cardiac ryanodine receptor channel cause various types of arrhythmias including long QT syndrome
DOI: https://doi.org/10.1093/europace/euab250
[2021] School-based routine screenings of electrocardiograms for the diagnosis of long QT syndrome
DOI: https://doi.org/10.1093/europace/euab320
[2021] An International Multicenter Cohort Study on β-Blockers for the Treatment of Symptomatic Children With Catecholaminergic Polymorphic Ventricular Tachycardia
DOI: https://doi.org/10.1161/circulationaha.121.056018
[2021] Sudden death after inappropriate shocks of implantable cardioverter defibrillator in a catecholaminergic polymorphic ventricular tachycardia case with a novel RyR2 mutation
DOI: https://doi.org/10.1016/j.jelectrocard.2021.09.015
[2021] Early onset of heart failure in Japanese ARVC patients with pathogenic desmosomal gene variants
DOI: https://doi.org/10.1093/eurheartj/ehab724.1790
[2021] Prevalence and characteristics of the Brugada electrocardiogram pattern in patients with arrhythmogenic right ventricular cardiomyopathy
DOI: https://doi.org/10.1002/joa3.12628
[2021] Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants
DOI: https://doi.org/10.1161/circgen.120.003289
[2021] Pueraria mirifica, an estrogenic tropical herb, unveiled the severity of Type 1 LQTS caused by KCNQ1‐T587M
DOI: https://doi.org/10.1002/joa3.12576
[2021] Early diagnosis of infantile Danon disease complicated by tetralogy of Fallot
DOI: https://doi.org/10.1111/ped.14542
[2021] Human-specific desmoglein 2 mutations in mice models of arrythmogenic right ventricular cardiomyopathy reproduce patients" phenotype
DOI: https://doi.org/10.1093/europace/euab116.545
[2021] Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome
DOI: https://doi.org/10.1093/eurheartj/ehab254
[2021] Relationships of Alcohol Consumption with Coronary Risk Factors and Macro- and Micro-Nutrient Intake in Japanese People: The INTERLIPID Study.
[2021] Novel electrocardiographic criteria for short QT syndrome in children and adolescents
DOI: https://doi.org/10.1093/europace/euab097
[2021] Impact of Medical Castration on Malignant Arrhythmias in Patients With Prostate Cancer
DOI: https://doi.org/10.1161/jaha.120.017267

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AI 要約（直近 5 年の研究成果）

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研究成果（92 件）

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