Rchr

J-GLOBAL ID：200901048725784520 Update date: Sep. 05, 2024

Yoshiura Koh'ichiro

ヨシウラコウイチロウ | Yoshiura Koh'ichiro

Affiliation and department：
Job title： Associate Prefessor
Homepage URL (1)： https://www-sdc.med.nagasaki-u.ac.jp/dhge/

Research field (2)： Human pathology , Medical biochemistry

Research keywords (4)： Human Genetics , genetic disorder , 分子遺伝学 , Molecular Genetics

Research theme for competitive and other funds (70)：

2023 - 2026 Comprehensive disease-associated interactome and model mice elucidate diversity and periodicity of the autoinflammatory disease
2022 - 2026 甲状腺濾胞性腫瘍の術前細胞診断を可能とする53BP1発現型の定量解析
2022 - 2025 Elucidation of the pathophysiology of schizophrenia / autism spectrum disorder using EP400 gene transgenic mice
2021 - 2025 HTLV-1の分子系統別疾患感受性の解明と層別化コホート研究の構築
2020 - 2023 Study for the mechanism of onset for myelodysplastic syndromes among atomic bomb survivors through temporal axis

2020 - 2023 Comprehensive identification of responsible regulatory molecules that define the seizure periodicity and inflammatory diversity of autoinflammatory diseases

2020 - 2023 Comprehensive molecular pathologic analyses during radiation-induced thyroid carcinogenesis: miRNA and mutation signature

2020 - 2023 Hydrocephalus and Dementia due to motile cilia dysfunction

2018 - 2023 現代人ゲノム配列解析にもとづくヤポネシア人進化の解明

2019 - 2022 Development of biomarkers for "early diagnosis" and "realization of precision medicine" of familial Mediterranean fever

2018 - 2022 Ethnicity-oriented genomic analysis of pathogenesis underlysing sudden cardiac death of unknown cause

2019 - 2021 New method to evaluate radiation effect by detecting structural variation

2018 - 2021 未診断疾患イニシアチブ(Initiative on Rare and Undiagnosed Disease(IRUD)):希少未診断疾患に対する診断プログラムの開発に関する研究

2017 - 2020 Identification and functional analysis of risk genes in multiplex ADHD families; multidimensional evaluation of neurodevelopmental disorders

2017 - 2020 Comprehensive genome analysis for hematopoietic cells of atomic bomb survivors

2017 - 2020 ヒストン修飾酵素異常にともなうDNAメチル化異常の治療薬探索と簡易診断法の開発

2016 - 2019 Identification of "disease control system" of adult still disease based on whole exon sequence

2016 - 2019 転写開始点マッピングによる分化特異的・時期特異的発現遺伝子の同定

2016 - 2019 ウイルスゲノムとヒトゲノムとの相互作用によるガン発症メカニズム解明

2015 - 2018 Development of new treatments for bone dysplasia caused by a mutation in TGFB1 utilizing patient-derived iPS cells

2015 - 2018 Nagasaki atomic bomb survivors timor tissue bank and exhaustive analysis of the molecular pathology

2015 - 2018 Elucidation of novel pathophysiology underlysing lethal arrhythmia due to mutations in cardiac ion transporters

2014 - 2018 Genetic analysis of a large family with schizophrenia adopting ARMS and developmental disorder traits as intermediate phenotypes

2015 - 2018 原因不明遺伝子関連疾患の全国横断的症例収集・バンキングと網羅的解析

2014 - 2017 A search for target genes of aberrant histone methylation diseases and the establishment of drug discovery platform based on elucidation of pathological conditions

2014 - 2017 Clinical features and genetic alterations of MDS among atomic bomb survivors.

2012 - 2017 Genomic analysis of genes relating to oral and maxillofacial congenital anomalies - Establishing a center of human genome resource banking

2014 - 2017 エピジェネティック稀少疾患の治療に向けた研究および原因未解明な稀少疾患に対する解析技術展開研究

2014 - 2016 Candidate gene study of cleft lip and/or cleft palate in Japan and Vietnam by international collaboration.

2014 - 2016 Molecular genetic study of Gillespie syndrome

2013 - 2016 Molecular biological analysis of genome wide paternal uniparental disomy

2013 - 2016 Detection of new molecules which induce bone lysis and new bone formation, and analysis of pathophysiology in arthropathy using induced pluripotent stem (iPS) cells

2013 - 2016 Development of Integrated Annotation Workflows for Human Whole Genome Sequencing

2013 - 2016 The molecular analysis of psychiatric disorders focusing missing heritability

2012 - 2016 Identification of Novel Genes and Pathogenesis Responsible for Brugada Syndrome Using Whole Exome Sequencing

2013 - 2016 歌舞伎症候群解析から広げる全ゲノム対象エピジェネティック解析法の開発

2013 - 2015 ゲノム変異を指標とした生物学的被ばく線量推定法の開発

2011 - 2014 地域蓄積・収集した稀少疾患の系統的原因究明

2010 - 2012 ゲノム異常症としての歌舞伎症候群原因遺伝子同定と遺伝子情報に基づく成長障害治療可能性の研究開発

2010 - 2012 microUPD検出による発生初期胚のDNA修復機構の解析

2009 - 2012 SNPによる疾患遺伝子座決定とシーケンスキャプチャー法開発による遺伝子単離

2010 - 2012 Approach to the rare variation hypothesis of the psychiatric disorderby a next generation type ultra high-speed sequencer

2010 - 2012 Functional human protein analysis in the post-genome era learning to new autoinflammatory diseases

2010 - 2012 Molecular genetic study of normal morphological variants

2009 - 2010 ゲノム異常症として歌舞伎症候群原因遺伝子同定と遺伝子に基づく成長障害治療可能性の研究開発

2007 - 2010 ヒトパピローマウィルス持続感染制御に関するゲノム医学からのアプローチ

2009 - 2010 Identification of the genes for abortus habirualis

2007 - 2010 Study concerning analysis of genes causing oral congenital anomalies

2008 - 2009 リアルタイムPCRの融解曲線を利用した遺伝子突然変異スクリーニング法の開発

2008 - 2009 Genetic, medical and anthropological study of human earwax gene, ABCC11

2007 - 2009 Earwax gene analysis of the Yayoi skeletal remains of native and immigrant lineage.

2005 - 2009 A family-analysis-based search for genes susceptible to mono-, oligo- and polygenic disorders

2006 - 2008 耳垢決定遺伝子ABCC11は膜輸送分子複合体形成の基盤遺伝子か

2007 - 2008 The Molecular analysis of Sotos syndrome

2005 - 2007 耳垢型決定遺伝子の人類遺伝学的考察と乳ガンとの関連

2007 - 2007 新しい遺伝子連鎖分析法を駆使した遺伝性自己炎症性疾患患者の新規遺伝子の同定

2005 - 2006 Linkage analysis of skeletal mandibular prognathism in Japanese

2004 - 2005 顔面奇形の発生抑生遺伝子の解析

2003 - 2005 眼瞼下垂原因ホメオボックス遺伝子の機能とOARドメイン相互作用蛋白質の単離

2001 - 2005 CONSORTIUM-BACED LINKAGE ANALYSIS AND IDENTIFICATION OF GENES FOR SINGEL-GENE DISEASES

2003 - 2004 顔面奇形の発生抑生遺伝子の解析

2002 - 2003 顔面奇形の発生抑生遺伝子の解析

2001 - 2003 TGF-β1を中心とした骨代謝関連の系統的遺伝子解析

2001 - 2002 口唇・口蓋裂の発生制御遺伝子の解析

2001 - 2002 Identification of causative gene for hereditary low-frequency sensorineural hearing loss

1999 - 2001 Hmx-1ホメオボックス遺伝子の外耳発生・中耳骨形成に対する役割の解明

2000 - 2001 GENOMIC DISCORDANCE BETWEEN MONOZYGOTIC TWINS DISCORDANT FOR AUTISM

Drug discovery of Osteoporosis

TGF-β1 plays important role for bone metabolism

Cloning of the gene for cleft lip & palat

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Papers (355)：

Yuji Kobayashi, Koji Ando, Yoshitaka Imaizumi, Hikaru Sakamoto, Hideaki Kitanosono, Masataka Taguchi, Hiroyuki Mishima, Akira Kinoshita, Shara Bekytbek, Maki Baba, et al. RUNX1 expression is regulated by a super-enhancer and is a therapeutic target in adult T-cell leukemia/lymphoma. Leukemia & lymphoma. 2024. 1-13
Masaki Ibe, Shinobu Tamura, Hideki Kosako, Yusuke Yamashita, Masamichi Ishii, Masaoh Tanaka, Hiroyuki Mishima, Akira Kinoshita, Sadahiro Iwabuchi, Shuhei Morita, et al. Familial schwannomatosis carrying LZTR1 variant p.R340X with brain tumor: A case report. Molecular genetics and metabolism reports. 2024. 40. 101107-101107
Daisuke Hatta, Shiho Makiya, Kaito Kanamoto, Kaori Watanabe, Yuki Fuchigami, Shigeru Kawakami, Akira Kinoshita, Koh-Ichiro Yoshiura, Naohiro Kurotaki, Keiro Shirotani, et al. Proline-rich transmembrane protein 2 regulates the magnitude and frequency of dopamine release by repetitive neuronal stimuli in the striatum of L-dopa-treated mice. Neuropsychopharmacology reports. 2024
Zheng Wang, Mitsuhiro Kometani, Leonid Zeitlin, Yael Wilnai, Akira Kinoshita, Koh-ichiro Yoshiura, Hiroko Ninomiya, Takeshi Imamura, Long Guo, Jingyi Xue, et al. Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type II. Journal of Human Genetics. 2024
Zheng Wang, Mitsuhiro Kometani, Leonid Zeitlin, Yael Wilnai, Akira Kinoshita, Koh-Ichiro Yoshiura, Hiroko Ninomiya, Takeshi Imamura, Long Guo, Jingyi Xue, et al. Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type II. Journal of human genetics. 2024

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MISC (201)：

北之園英明, 安東恒史, 今泉芳孝, 小林裕児, 三嶋博之, 木下晃, 田口正剛, 坂本光, 加藤丈晴, 佐藤信也, et al. Combination therapy of PRMT5 inhibitor and PHD2 inhibitor (IOX4) for adult T-cell leukemia/lymphoma. 日本血液学会学術集会抄録(Web). 2021. 83rd
小林裕児, 安東恒史, 今泉芳孝, 北之園英明, 三嶋博之, 木下晃, 田口正剛, 坂本光, 加藤丈晴, 佐藤信也, et al. RUNX1 as a therapeutic target for adult T-cell leukemia/lymphoma. 日本血液学会学術集会抄録(Web). 2021. 83rd
宮田海香子, 長谷川ゆり, 三浦生子, 高尾麻未, 松本正, 吉浦孝一郎, 三浦清徳. IRUDにより腎尿細管形成不全症と確定した家族との関わり. 日本遺伝カウンセリング学会誌. 2019. 40. 2. 137-137
高尾真未, 長谷川ゆり, 三浦生子, 宮田海香子, 松本正, 吉浦孝一郎, 三浦清徳. IRUDにおける遺伝カウンセリングの検討. 日本遺伝カウンセリング学会誌. 2019. 40. 2. 159-159
森田修平, 竹島健, 古川安志, 浦木進丞, 稲葉秀文, 有安宏之, 岩倉浩, 古田浩人, 西理宏, 三嶋博之, et al. 褐色細胞腫を合併したWaardenburg症候群の1例. 日本内分泌学会雑誌. 2019. 95. Suppl.Update. 149-150

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Books (5)：

遺伝医学への招待
南江堂 2020 ISBN:9784524249312
Linkage Analysis
2019
全ゲノム関連解析研究(GWAS)の原理と考え方.
メディカルドゥ 2019
Genetics and Genomics in Medicine
2016
Color Atlas of Genetics
2009

Lectures and oral presentations (292)：

Broad clinical spectrum and various diagnostic opportunities in patients with Coffin-Siris syndrome.
(2023)
Investigating batch effects in whole genome sequencing: A study of paired samples from two sequencing project.
(2023)
A first Japanese case with Bryant-Li-Bhoj neurodevelopmental syndrome associated with a novel variant in the H3-3A gene
(2023)
Establishment of a mouse model of Sotos syndrome and its phenotypic analysis
(2023)
Autoimmune disease in Kabuki syndrome
(2023)

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Education (1)：

1990 - 1994 Nagasaki University

Professional career (3)：

(BLANK) (Nagasaki University)
(BLANK) (Nagasaki University)
(BLANK)

Work history (11)：

2013/04 - 現在 Nagasaki University
2008/04 - 2013/03 Nagasaki University Graduate School of Biomedical Sciences, Atomic Bomb Disease Institute
2007/04 - 2008/03 Nagasaki University Graduate School of Biomedical Sciences
2003/10 - 2007/03 Nagasaki University
1998/04 - 2003/10 Nagasaki University School of Medicine

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Committee career (3)：

2014/01 - 現在日本人類遺伝学会 Journal of Human Human Genetics 編集委員
2003/08 - 現在日本人類遺伝学会評議員
2005 - Japanese Society of Human Genetics councilor

Awards (2)：

2001 - 日本人類遺伝学会奨励賞
2001 - Japan Society of Human Genetics, Encouraging prize

Association Membership(s) (3)：

THE MOLECULAR BIOLOGY SOCIETY OF JAPAN , THE JAPAN SOCIETY OF HUMAN GENETICS , Japanese Society of Molecular Biology

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