Yoshihiro Asano 研究室

主宰者：Yoshihiro Asano

大阪大学

AI 要約（直近 5 年の研究成果）

浅野義博研究室は、心臓病や遺伝性疾患の発症メカニズムを遺伝学的および分子生物学的に解明する研究を行っています。特に、拡張型心筋症や肥大型心筋症などの心筋疾患、長QT症候群などの不整脈疾患、さらには先天性の顔面奇形を伴う遺伝性疾患を対象としています。患者から採取した心臓組織や血液サンプルを用いた遺伝子解析、ゲノムワイド関連解析、および病理組織検査を組み合わせ、疾患の原因となる遺伝的変異を同定しています。研究室の主要な成果は、特定の遺伝子変異と臨床症状・予後との関連性を明らかにすることです。例えば、心筋細胞内のDNA損傷と患者の遺伝型が治療反応性にどのように影響するか、あるいは特定の遺伝子異常を持つ患者がどの程度重篤な心不全に進行しやすいかなどを報告しています。また、細胞や動物モデルを用いた機能解析により、変異タンパク質がどのようなメカニズムで心機能障害や神経発達遅滞を引き起こすのかを検証しています。こうした研究を通じて、患者の遺伝型に基づいた診断と層別化医療の確立を目指しています。

※ 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（57 件）

[2025] HSC70 coordinates COP9 signalosome and SCF ubiquitin ligase activity to enable a prompt stress response
DOI: https://doi.org/10.1038/s44319-025-00376-x
[2025] JCS/JCC/JSPCCS 2024 Guideline on Genetic Testing and Counseling in Cardiovascular Disease
DOI: https://doi.org/10.1016/j.jjcc.2024.10.002
[2025] BPS2025 - Measurement of gating pore current in Nav1.5 with R219H using a newly identified disease-associated pore block mutation
DOI: https://doi.org/10.1016/j.bpj.2024.11.665
[2025] Coping strategies and changes in type D personality were associated with depressive tendency at 9 months after percutaneous coronary intervention
DOI: https://doi.org/10.1371/journal.pone.0316639
[2025] HCN4 Short Truncation Mutation in a Family With ‘Cardiomyopathy’ Showing Severe Mitral Valve Prolapse and Sick Sinus Syndrome
DOI: https://doi.org/10.1253/circj.cj-25-0831
[2025] Single-nucleus multiome shows motor neuron glutamate overactivation in amyotrophic lateral sclerosis
DOI: https://doi.org/10.1093/brain/awaf426
[2025] Focal dermal hypoplasia with clinical features mimicking classic hypohidrotic ectodermal dysplasia and cardiofaciocutaneous syndrome
DOI: https://doi.org/10.1684/ejd.2025.4958
[2025] Genomic Profiles of Pathogenic and Moderate-Penetrance Germline Variants Associated With Risk of Early-Onset Lung Adenocarcinoma
DOI: https://doi.org/10.1016/j.jtho.2025.06.005
[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] Clinical Impact of Genetic Testing for Long QT Syndrome　― Evidence From a Nationwide LQTS Registry in Japan ―
DOI: https://doi.org/10.1253/circj.cj-25-0105

続きを表示（残り 47 件）

[2025] Unveiling Clinical and Genetic Distinctions in Pure‐Apical Versus Distal‐Dominant Apical Hypertrophic Cardiomyopathy
DOI: https://doi.org/10.1161/jaha.124.038208
[2025] Electron Microscopic Findings Predict Clinical Outcomes in Patients with Non-Ischaemic Cardiomyopathy
DOI: https://doi.org/10.1002/ehf2.15255
[2024] JCS/JCC/JSPCCS 2024 Guideline on Genetic Testing and Counseling in Cardiovascular Disease
DOI: https://doi.org/10.1253/circj.cj-23-0926
[2024] Characteristic craniofacial defects associated with a novel USP9X truncation mutation
DOI: https://doi.org/10.1038/s41439-024-00277-w
[2024] Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder
DOI: https://doi.org/10.1038/s41439-023-00262-9
[2024] MYH9-related disorder with sole presentation of end-stage kidney disease and long-term, recurrence-free living after living donor renal transplantation: a case report
DOI: https://doi.org/10.1007/s13730-024-00892-0
[2024] Four cardiomyopathy patients with a heterozygous DSG2 p.Arg119Ter variant
DOI: https://doi.org/10.1038/s41439-024-00304-w
[2024] Sarcomere gene variants did not improve cardiac function in pediatric patients with dilated cardiomyopathy from Japanese cohorts
DOI: https://doi.org/10.1038/s41598-024-77360-3
[2024] Myocardial DNA damage is responsible for the relationship between genotype and treatment response in patients with dilated cardiomyopathy
DOI: https://doi.org/10.1093/eurheartj/ehae666.2058
[2024] Compromised actin dynamics underlie the orofacial cleft in Baraitser-Winter Cerebrofrontofacial syndrome with a variant in ACTB
DOI: https://doi.org/10.1093/hmg/ddae133
[2023] End-stage Hypertrophic Cardiomyopathy with Advanced Heart Failure in Patients Carrying MYH7 R453 Variants: A Case Series
DOI: https://doi.org/10.2169/internalmedicine.1497-22
[2023] Experimental study of photoneutron spectra from tantalum, tungsten, and bismuth targets for 16.6 MeV polarized photons
DOI: https://doi.org/10.1080/00223131.2023.2295438
[2023] Human leukocyte antigen-DQ risk heterodimeric haplotypes of left ventricular dysfunction in cardiac sarcoidosis: an autoimmune view of its role
DOI: https://doi.org/10.1038/s41598-023-46915-1
[2023] Abstract 13558: Age-Dependent Change of Electrocardiographic Characteristics and Cardiac Events in the Long QT Syndrome Type-3 With E1784K Mutation of SCN5A
DOI: https://doi.org/10.1161/circ.148.suppl_1.13558
[2023] Novel TRPS1 frameshift variant in tricho-rhino-phalangeal syndrome type I accompanied by zinc deficiency
DOI: https://doi.org/10.1016/j.ejmg.2023.104870
[2023] A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay
DOI: https://doi.org/10.1038/s41439-023-00255-8
[2023] Content
DOI: https://doi.org/10.1253/circj.cj-87-content10
[2023] Cardiac Magnetic Resonance Imaging Findings in Filamin C Variant-Associated Arrhythmogenic Left Ventricular Cardiomyopathy
DOI: https://doi.org/10.1253/circj.cj-23-0480
[2023] Clinical Outcomes and Genetic Analyses of Restrictive Cardiomyopathy in Children
DOI: https://doi.org/10.1161/circgen.122.004054
[2023] RNF213 p.R4810K Variant Increases the Risk of Vasospastic Angina
DOI: https://doi.org/10.1016/j.jacasi.2023.05.002
[2023] Estimation of crossbridge-state during cardiomyocyte beating using second harmonic generation
DOI: https://doi.org/10.26508/lsa.202302070
[2023] Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed <scp>SATB2</scp>‐associated syndrome
DOI: https://doi.org/10.1002/ajmg.a.63225
[2023] Restoration of Cardiac Myosin Light Chain Kinase Ameliorates Systolic Dysfunction by Reducing Superrelaxed Myosin
DOI: https://doi.org/10.1161/circulationaha.122.062885
[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] Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease
DOI: https://doi.org/10.1161/jaha.122.028625
[2023] Comparison of double-differential cross-section between nuclear data library and experimental data for photoneutron production
DOI: https://doi.org/10.1051/epjconf/202328401048
[2023] A family with brachydactyly mental retardation syndrome with a missense variant in HDAC4
DOI: https://doi.org/10.1297/cpe.2022-0076
[2023] Target mass dependence of photoneutron spectrum for 16.6 MeV photons on medium-heavy mass targets
DOI: https://doi.org/10.1051/epjconf/202328401047
[2022] Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis
DOI: https://doi.org/10.1038/s41439-022-00220-x
[2022] Effectiveness of an online support program to help female cancer patients manage their health and illness: Protocol for a randomized controlled trial
DOI: https://doi.org/10.1016/j.conctc.2022.101035
[2022] Refractory Ventricular Arrhythmias in a Patient With Dilated Cardiomyopathy Caused by a Nonsense Mutation in BAG5
DOI: https://doi.org/10.1253/circj.cj-22-0329
[2022] A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome
DOI: https://doi.org/10.1038/s41439-022-00203-y
[2022] Compound heterozygous variants of the <scp>NARS2</scp> gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome
DOI: https://doi.org/10.1002/ajmg.a.62873
[2022] Arrhythmogenic right ventricular cardiomyopathy complicating hypertrophic cardiomyopathy
DOI: https://doi.org/10.1093/ehjci/jeac103
[2022] Whole-exome Sequencing Analysis of a Japanese Patient With Hyperinsulinemia and Liver Dysfunction
DOI: https://doi.org/10.1210/jendso/bvac008
[2022] Loss-of-function mutations in the co-chaperone protein BAG5 cause dilated cardiomyopathy requiring heart transplantation
DOI: https://doi.org/10.1126/scitranslmed.abf3274
[2022] Genetic assessment using whole-exome sequencing for a young hypertriglyceridemic patient with repeated acute pancreatitis
DOI: https://doi.org/10.1507/endocrj.ej22-0024
[2021] Cardio- and reno-protective effects of dipeptidyl peptidase III in diabetic mice
DOI: https://doi.org/10.1016/j.jbc.2021.100761
[2021] Cardiac Fibroblasts Play Pathogenic Roles in Idiopathic Restrictive Cardiomyopathy
DOI: https://doi.org/10.1253/circj.cj-20-1008
[2021] Phospholamban p.Arg14del Cardiomyopathy: A Japanese Case Series
DOI: https://doi.org/10.2169/internalmedicine.8594-21
[2021] ASB2 is a novel E3 ligase of SMAD9 required for cardiogenesis
DOI: https://doi.org/10.1038/s41598-021-02390-0
[2021] Aberrant accumulation of TMEM43 accompanied by perturbed transmural gene expression in arrhythmogenic cardiomyopathy
DOI: https://doi.org/10.1096/fj.202100800r
[2021] Visualization of Spatial Distribution of Spermatogenesis in Mouse Testes Using Creatine Chemical Exchange Saturation Transfer Imaging
DOI: https://doi.org/10.1002/jmri.27734
[2021] <scp> HECW2 </scp> ‐related disorder in four Japanese patients
DOI: https://doi.org/10.1002/ajmg.a.62363
[2021] A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting
DOI: https://doi.org/10.1038/s41439-021-00148-8
[2021] Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures
DOI: https://doi.org/10.1038/s41439-021-00176-4
[2021] The CR9 element is a novel mechanical load‐responsive enhancer that regulates natriuretic peptide genes expression
DOI: https://doi.org/10.1096/fj.202002111rr

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AI 要約（直近 5 年の研究成果）

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関連研究室(8 件)

研究成果（57 件）

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