Rchr

J-GLOBAL ID：200901075224074202 Update date: Apr. 24, 2024

Matsubara Yoichi

マツバラヨウイチ | Matsubara Yoichi

Affiliation and department：
Job title： Executive Officer
Other affiliations (1)：

Tohoku University Professor Emeritus

Homepage URL (2)： http://www.ncchd.go.jp/sitemap-research.html , http://db.tohoku.ac.jp/whois/detail/28a4ac4347e7f09a9e78a1f2eef635fc.html

Research field (2)： Medical biochemistry , Fetal medicine/Pediatrics

Research keywords (2)：遺伝性疾患の病因解明.遺伝子診断 , Genetic diseases.DNA diagnosis

Research theme for competitive and other funds (49)：

2018 - 2021 Crosstalk between mechanism of metabolic abnormalies in congenital disorders and cancer cell metabolism
2017 - 2020 Functional analysis of mutants of EVI1 identified in individuals with radioulnar synostosis with amegakaryocytic thrombocytopenia
2017 - 2020 Functional analysis and modeling in RASopathies
2016 - 2018 Metablic alterarion and growth control in congenital anomaly syndrome
2014 - 2017 Establishment of comprehensive gene analysis of Noonan syndrome and related disorders

2014 - 2017 Molecular analysis and pathogenesis of the RAS/MAPK syndromes

2014 - 2016 Epigenomic regulation in congenital anomaly syndromes

2012 - 2016 Understanding the pathogenic mechanism for Noonan syndrome with RAF1 mutation

2012 - 2015 Familial pathogenesis of lung cancer with the epidermal growth factor receptor (EGFR) gene mutation

2011 - 2014 Molecular analysis of congenital anomaly syndromes caused by intracellular signal transduction defects

2011 - 2012 Identification of pathogenic genes for genetic diseases using next-generation sequencing and high-density microarray

2009 - 2010 シグナル伝達データベースとオミックス解析による先天奇形症候群の病因解明

2008 - 2010 Molecular analysis of congenital anomaly syndromes caused by impaired intracellular signaling pathways

2008 - 2009 癌遺伝子関連ゲノム情報を活用した先天奇形症候群原因遺伝子の同定

2007 - 2008 シグナル伝達マップ作成とプロテオーム解析による先天奇形症候群の病因遺伝子探索

2007 - 2008 Study on the standardization and quality assurance of genetic testing

2006 - 2008 癌遺伝子関連ゲノム情報を活用した先天奇形症候群原因遺伝子の同定

2007 - 2007 ヌーナン症候群類縁疾患の分子診断と臨床症状の検討による疾患概念の再構築

2006 - 2007 Molecular analysis of congenital anomaly syndromes due to mutations in signal transduction pathways

2005 - 2006 小児科領域における遺伝子多型に基づいたオーダーメイド医療の構築

2005 - 2006 Identification of novel disease genes for Noonan-related syndromes

2004 - 2005 Multivariate analysis of asthma susceptibility genes

2004 - 2005 New strategy for development of diseased mouse model of hereditary deafness and fundamental therapy based on molecular mechanisms

2004 - 2004 唇裂・口蓋裂の発症に関与する遺伝的素因の深索

2003 - 2004 単一遺伝子病に対する新しい遺伝子診断法の開発と応用

2003 - 2004 DEVELOPMENT OF A NOVEL POINT-OF-CARE GENETIC TESTING METHOD

2003 - 2003 唇裂・口蓋裂の発症に関与する遺伝的素因の探索

2002 - 2003 IDENTIFICATION AND CLARIFICATION OF THE UNDERLYING MECHANISM OF NOVEL DEANESS GENE BY MUTAGENESIS PROGRAM

2002 - 2003 ビオチン代謝異常症の分子遺伝学的研究

2001 - 2003 An occupational health approach to prevent the lifestyle-related diseases based on genetic information.

2001 - 2002 COMPREHENSIVE DNA DIAGNOSTIC SYSTEM FOR SINGILE GENE DISORDERS

2000 - 2001 DNA DIAGNOSIS OF RARE GENETIC DISEASES USING JAPANESE MICROARRAY

1999 - 2000 GENE THERAPY IN PHENYLKETONURIA

1998 - 1999 AUTOMATIC DETECTION SYSTEM OF GENETIC POLYMORPHISMS

1998 - 1999 KINETIC PROPERTIES OF MUTANT HOLOCARBOXYLASE SYNTHETASES

1997 - 1999 Molecular mechanism and gene therapy of familial ALS

1997 - 1998 Adenovirus-mediated gene transfer in phenylketonuria model mice

1996 - 1997 GENE THERAPY ON HEPATIC ENZYME DEFICIENCY.

1996 - 1996 フェニルケトン尿症に対する遺伝子治療の基礎的研究

1995 - 1996 Development of gene diagnosis system for screening of inherited metabolic disorders

1994 - 1996 Rapid Detection of Known Mutations and Its Application to Carrie Testing

1995 - 1995 フェニルケトン尿症モデルマウスにおける遺伝子治療の基礎的研究

1994 - 1995 ISOLATION AND CHARACTERIZATION OF HUMAN HOLOCARBOXYLASE SYNTHETASE GENE.

1993 - 1995 Molecular basis of neonatal-onset multiple carboxylase deficiency

1993 - 1994 Molecular analysis of dihydropteridine reductase deficiency

1990 - 1992 DIAGNOSTIC METHODS BY DNA ANALYSIS OF DRIED BLOOD SPOTS AND CLASSIFICATION OF INHERITED DISEASE BY MUTANT GENOTYPES.

1991 - 1991 中鎖アシルCoA脱水素酵素欠損症の分子遺伝学的研究

1990 - 1991 Molecular and biochemical study on multiple carboxylase deficiency.

1989 - 1989 マルチプルカルボキシラ-ッゼ欠損症の分子生物学的研究

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Papers (128)：

Kumiko Yanagi, Jonathan Coker, Kaori Miyana, Seijiro Aso, Nana Kobayashi, Kazuhito Satou, Adam Richman, Suneel Indupuru, Yoichi Matsubara, Tadashi Kaname. Biallelic CC2D2A variants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing. Journal of human genetics. 2023. 68. 6. 431-435
Ichiro Takeuchi, Kumiko Yanagi, Shuji Takada, Toru Uchiyama, Arisa Igarashi, Kenichiro Motomura, Yuka Hayashi, Naoko Nagano, Ryo Matsuoka, Hiroki Sugiyama, et al. STAT6 gain-of-function variant exacerbates multiple allergic symptoms. The Journal of allergy and clinical immunology. 2022. 151. 5. 1402-1409
小野智愛, 新堀哲也, 深見真紀, 黒澤健司, 大橋博文, 岡本伸彦, 水野誠司, 緒方勤, 松原洋一, 津幡真理, et al. Noonan症候群類縁疾患を有する子どもの療養生活及び養育者の心理社会的側面に関する実態調査. 日本遺伝カウンセリング学会誌. 2021. 42. 2. 55-55
Kumiko Yanagi, Noriko Morimoto, Manami Iso, Yukimi Abe, Kohji Okamura, Tomoo Nakamura, Yoichi Matsubara, Tadashi Kaname. A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1. Journal of human genetics. 2021. 66. 10. 1029-1034
要匡, 内田佳子, 柳久美子, 大西志麻, 富田慶一, 安田真人, 天笠俊介, 多賀谷貴史, 佐々木隆司, 小崎里華, et al. 突然死症例に対する網羅的ゲノム解析の有用性. 日本小児科学会雑誌. 2021. 125. 2. 236-236

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MISC (743)：

Kumiko Yanagi, Eriko Nishi, Arisa Igarashi, Maki Omata, Yukimi Abe, Nana Kobayashi, Kazuhito Satou, Kanako Ishii, Nobuhiko Okamoto, Yoichi Matsubara, et al. Clinical features and molecular characterization of three Japanese patients with autosomal dominant Robinow syndrome caused by DVL3 variants. EUROPEAN JOURNAL OF HUMAN GENETICS. 2022. 30. SUPPL 1. 156-156
青木洋子, 松原洋一, 緒方勤, 黒澤健司, 岡本伸彦, 大橋博文, 水野誠司, 新堀哲也, 川目裕, 阿部太紀, et al. 先天異常症候群のライフステージ全体の自然歴と合併症の把握:Reverse phenotypingを包含したアプローチ「RAS信号伝達系に関連する先天異常症候群等,東北地区成育医療施設としての支援機能:コステロ症候群・CFC症候群,先天異常症候群」. 先天異常症候群のライフステージ全体の自然歴と合併症の把握:Reverse Phenotypingを包合したアプローチ令和2年度総括・分担研究報告書(Web). 2021
要匡, 柳久美子, 宮奈香, 小林奈々, 佐藤万仁, ADAM Richman, SUNEEL Indupuru, JONATHAN Coker, 松原洋一. Simultaneous identification of biallelic SNV and SV by long read whole-genome sequencing and allele phasing. 日本小児遺伝学会学術集会プログラム・抄録集. 2021. 44th (CD-ROM)
柳久美子, COKER Jonathan, 宮奈香, 小俣牧子, 比田井朋美, 五十嵐ありさ, 佐藤万仁, RICHMAN Adam, INDUPURU Suneel, 松原洋一, et al. Long-read whole-genome sequencing with phasing analysis reveals the cause of a suspected family with Joubert syndrome. 日本人類遺伝学会大会プログラム・抄録集. 2021. 66th (CD-ROM)
佐藤万仁, 柳久美子, 仲村貞郎, 知念安紹, 松原洋一, 要匡. 日本人小児期発症進行性全身性ジストニア患者の全エクソーム解析において見出されたKMT2B新規新生非同義変異の構造生物学的評価. 日本分子生物学会年会プログラム・要旨集(Web). 2020. 43rd

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Lectures and oral presentations (22)：

●1-2 Precision Medicineはどこまで進んだか 1-2-1 最先端ヒトゲノム情報の医療への応用「希少難病のPrecision Medicine~未診断疾患イニシアチブ(IRUD)」
(第30回日本医学会総会 2019 中部 2019)
Plenary Lecture III”Initiative on Rare and Undiagnosed Diseases in Pediatrics in Japan”
(2018EAUHGS meeting, Seoul, Korea 2018)
Initiative on Rare and Undiagnosed Disesases (IRUD)
(16th Asia Pacific Congress of Pediatrics(APCP)2018, 9th Annual Scientific Meeting of Indonesian Pediatric Society(ASMIPS) 2018)
A novel variant of GNAI3 gene in a Japanese girl patient with malformed ears, microstomia, abnormal temporomandibular foint, and mandibular condyle hypoplasia,Initiative on Rare and Undiagnosed Diseases in Pediatrics(IRUD-P)
(European Society of Human Geneteics 2017 2017)
A novel pathogenic variant in the SMC1A gene in a patient with atypical Cornelia de Lange syndrome identified by whole exome sequencing
(European Society of Human Geneteics 2017 2017)

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Works (20)：

次世代シークエンサーを駆使した希少遺伝性難病の原因解明と治療法
2011 - 2014
次世代シークエンサーを駆使した希少遺伝性難病の原因解明と治療法
2011 - 2014
コステロ症候群・CFC症候群類縁疾患の診断基準作成と治療法開発に関する研究
2010 - 2011
遺伝学的手法における診断の効果的な実施体制に関する研究
2010 - 2011
ヌーナン症候群の診断方法の確立と治療法開発に関する研究
2010 - 2011

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Education (1)：

- 1979 Tohoku University Faculty of Medicine

Work history (9)：

2018 - 現在 National Center for Child Health and Development Executive Officer
2015 - 現在 Tohoku University
2013 - 2021 National Center for Child Health and Development
2000 - 2015 Tohoku University Graduate School of Medicine, Department of Medical Genetics Professor
1989 - 2000 Tohoku University Faculty of Medicine

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Committee career (21)：

2017/10 - 2019/11 日本人類遺伝学会理事長
2007 - 2018 - 特定非営利活動法人オーファンネットジャパン理事長
2008 - 2011 International Federation of Human Genetics Societies 理事長
2008 - 2011 International Federation of Human Genetics Societies 理事長
2010 - 日本マススクリーニング学会理事

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Awards (4)：

2020 - 日本人類遺伝学会学会賞
2008 - 日本先天代謝異常学会学会賞
1997 - 日本先天代謝異常学会奨励賞
1992 - Japan Society of Human Genetics Encouragement Award

Association Membership(s) (27)：

THE JAPAN SOCIETY OF HUMAN GENETICS , International Federation of Human Genetics Societies , 日本遺伝子診療学会 , 日本先天代謝異常学会 , 日本小児科学会 , 日本人類遺伝学会 , 日本マススクリーニング学会 , 日本人類遺伝学会(2000/01- 理事) , 日本先天代謝異常学会(2004/01- 理事) , 日本遺伝子診療学会(2003/01- 理事) , 日本人類遺伝学会(2007/11- 編集委員) , 日本小児科学会(2004/01- 編集委員) , International Federation of Human Genetics Societies(2008/10-2011/12 理事長) , 日本マススクリーニング学会(2010/11- 理事) , International Federation of Human Genetics Societies , 日本遺伝子診療学会 , 日本先天代謝異常学会 , 日本小児科学会 , 日本人類遺伝学会 , 日本マススクリーニング学会 , 日本人類遺伝学会(2000/01- 理事) , 日本先天代謝異常学会(2004/01- 理事) , 日本遺伝子診療学会(2003/01- 理事) , 日本人類遺伝学会(2007/11- 編集委員) , 日本小児科学会(2004/01- 編集委員) , International Federation of Human Genetics Societies(2008/10-2011/12 理事長) , 日本マススクリーニング学会(2010/11- 理事)

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