Akio Koizumi 研究室（京都大学）

AI 要約（直近 5 年の研究成果）

この研究室は、遺伝子変異と疾患の発症メカニズムを解明する研究に取り組んでいます。特に、RNF213遺伝子の特定の変異が脳血管疾患である脳動脈瘤様病変と関連していることに注目し、末梢血の遺伝子発現解析やベイズネットワーク解析といった統計学的手法を用いて、この変異の発症メカニズムを調べています。腸内細菌叢の組成変化との関連性についても検討しており、複数の角度から疾患発症に関わる因子を明らかにしようとしています。一方、電圧依存性ナトリウムチャネルの遺伝子変異に起因する先天性疼痛疾患の研究も推進しており、患者由来の変異について電気生理学的解析を行い、チャネルの機能異常を定量的に評価しています。さらに、この疾患に対する新規治療薬候補の効果を動物モデルで検証しています。加えて、スリランカの慢性腎臓病と関連するハンタウイルス感染の疫学的調査や、福島原発事故後の食品中の放射性セシウムの消減に関する実践的研究も展開しており、分子生物学的解析から公衆衛生に至るまで、幅広い医学的課題に対応した研究体制を構築しています。

※ 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（27 件）

[2025] Development of a Vascular Organoid Model for Moyamoya Disease Using Patient-Derived iPS Cells
DOI: https://doi.org/10.1016/j.bas.2025.104920
[2025] Lanka virus, a Mus booduga-borne orthohantavirus infection-associated febrile illness in Sri Lanka
DOI: https://doi.org/10.1371/journal.pntd.0013169
[2025] Lignin as an Inexpensive, High-Yield Precursor to Hard Carbon Active Materials for Sodium-Ion Batteries
DOI: https://doi.org/10.1021/acsaem.5c00491
[2025] Peripheral blood GATA2 expression impacts RNF213 mutation penetrance and clinical severity in moyamoya disease
DOI: https://doi.org/10.1136/svn-2024-003970
[2025] Abstract TP359: Peripheral blood GATA2 expression increases RNF213 mutation penetrance and clinical severity in moyamoya disease
DOI: https://doi.org/10.1161/str.56.suppl_1.tp359
[2024] Familial Episodic Pain Syndrome: A Japanese Family Harboring the Novel Variant c.2431C>T (p.Leu811Phe) in SCN11A
DOI: https://doi.org/10.1007/s10528-024-10888-1
[2023] RNF213 p.R4810K Variant Increases the Risk of Vasospastic Angina
DOI: https://doi.org/10.1016/j.jacasi.2023.05.002
[2023] Posterior cerebral artery involvement in unilateral moyamoya disease is exclusively ipsilateral and influenced by RNF213 mutation gene dose: The SUPRA Japan study
DOI: https://doi.org/10.1016/j.jstrokecerebrovasdis.2023.107513
[2023] Reduced pain sensitivity of episodic pain syndrome model mice carrying a Nav1.9 mutation by ANP-230, a novel sodium channel blocker
DOI: https://doi.org/10.1016/j.heliyon.2023.e15423
[2023] The Rate of Decrease of Radioactive Cesium-137 in Food from Kawauchi Village (Fukushima Prefecture) Achieved as a Result of Preparation, Pretreatment and Other Processing of the Food prior to Its Cooking
DOI: https://doi.org/10.57426/00001370

続きを表示（残り 17 件）

[2022] Hantavirus infection as a risk factor for chronic kidney disease of unknown aetiology (CKDu) and its prevalence in endemic areas of Sri Lanka since 2010 according to a retrospective serological analysis
DOI: https://doi.org/10.1099/jmm.0.001630
[2022] Increased abundance of Ruminococcus gnavus in gut microbiota is associated with moyamoya disease and non-moyamoya intracranial large artery disease
DOI: https://doi.org/10.1038/s41598-022-24496-9
[2022] Profiles and determinants of dicofol, endosulfans, mirex, and toxaphenes in breast milk samples from 10 prefectures in Japan
DOI: https://doi.org/10.1016/j.chemosphere.2022.137002
[2022] Table of Contents
DOI: https://doi.org/10.1016/s1052-3057(22)00257-9
[2022] Lack of Association between Seropositivity of Vasculopathy-Related Viruses and Moyamoya Disease
DOI: https://doi.org/10.1016/j.jstrokecerebrovasdis.2022.106509
[2022] Suppression of RNF213, a susceptibility gene for moyamoya disease, inhibits endoplasmic reticulum stress through SEL1L upregulation
DOI: https://doi.org/10.1016/j.bbrc.2022.04.007
[2022] Deletion of Gdf15 Reduces ER Stress-induced Beta-cell Apoptosis and Diabetes
DOI: https://doi.org/10.1210/endocr/bqac030
[2022] Mechanical evaluation of windthrow resistance of afforestation trees
DOI: https://doi.org/10.7211/jjsrt.47.378
[2022] 10-year transition of radioactive Cesium-134 / 137 content in 4 items of foodstuffs collected in Fukushima Prefecture and Kawauchi Village
DOI: https://doi.org/10.57426/00000918
[2022] A Family of Infantile Episodic Limb Pain with a SCN11A Gene Mutation
DOI: https://doi.org/10.2169/naika.111.89
[2021] Alterations in β-Cell Sphingolipid Profile Associated with ER Stress and iPLA2β: Another Contributor to β-Cell Apoptosis in Type 1 Diabetes
DOI: https://doi.org/10.3390/molecules26216361
[2021] Identification of Novel Rodent-Borne Orthohantaviruses in an Endemic Area of Chronic Kidney Disease of Unknown Etiology (CKDu) in Sri Lanka
DOI: https://doi.org/10.3390/v13101984
[2021] Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A1
DOI: https://doi.org/10.1186/s12920-021-01042-6
[2021] RNF213 p.R4810K (c.14429G > A) Variant Determines Anatomical Variations of the Circle of Willis in Cerebrovascular Disease
DOI: https://doi.org/10.3389/fnagi.2021.681743
[2021] Characteristics of superficial esophageal squamous cell carcinomas undetectable with narrow-band imaging endoscopy
DOI: https://doi.org/10.1093/gastro/goab028
[2021] E44Q mutation in NaV1.7 in a patient with infantile paroxysmal knee pain: electrophysiological analysis of voltage-dependent sodium current
DOI: https://doi.org/10.1016/j.heliyon.2021.e07396
[2021] Effects of coexisting upper gastrointestinal symptoms on daily life and quality of life in patients with gastroesophageal reflux disease symptoms
DOI: https://doi.org/10.1007/s10388-020-00801-1

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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（27 件）

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