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YAGI MARIKO  八木 麻理子

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YAGI Mariko  八木 麻理子

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Researcher Number 60362787
Other IDs
External Links
Affiliation (Current) 2025: 甲南女子大学, 人間科学部, 教授
Affiliation (based on the past Project Information) *help 2013: 神戸大学, 医学(系)研究科(研究院), 研究員
2013: 神戸大学, 大学院医学研究科, 研究員
2012: 神戸大学, 医学(系)研究科(研究院), 医学研究員
2011 – 2012: 神戸大学, 医学(系)研究科(研究院), 助教
2011: 神戸大学, 医学研究科, 特命助教 … More
2011: 神戸大学, 大学院・医学研究科, 特命教授
2010: 神戸大学, 医学研究科, 助教
2009: 神戸大, 医学(系)研究科(研究院), 助教
2008: 神戸大学, 医学研究科, 特命助教
2008: Kobe University, 大学院・医学研究科, 特命助教
2008: 神戸大学, 大学院医学研究科, 助教
2007: Kobe University, Graduate School of Medicine, Assistant Professor
2007: Kobe University, 大学院・医学系研究科, 助教
2006: Kobe University, Graduate School of Medicine, Assistant Professor, 医学系研究科, 助手
2005 – 2006: 神戸大学, 大学院医学系研究科, 助手
2004 – 2005: 神戸大学, 大学院・医学系研究科, 助手
2003: Kobe University, Hospital, Research Associate, 医学部付属病院, 助手
2003: 神戸大学, 医学部附属病院, 助手 Less
Review Section/Research Field
Principal Investigator
Pediatrics
Except Principal Investigator
Pediatrics / Medical pharmacy / Pediatrics
Keywords
Principal Investigator
スプライシング / エクソンスキッピング / 国際情報交流 / 国際情報研究 / ステロイド / テーラーメイド医療 / 抗てんかん薬 / テーラーメード医療 / 遺伝子多型 / アンチセンスオリゴヌクレオチド / 核蛋白 / スプライシング促進配列 … More
Except Principal Investigator
… More エクソンスキッピング / 筋ジストロフィー / ジストロフィン / Duchenne / アンチセンスオリゴヌクレオチド / Reduced folate carrier / Glutathione S-transferase / exon skipping / molecular therapy / muscular dystrophy / dystrophin / 分子治療 / 治療 / 小児神経学 / splicing / antisense oligonucleotide / スプライシング / エクソン・スキッピング / Genetic polymorphism / Malignant lymphoma / Acute lymphoblastic leukemia / Methotrexate / reduced folate carrier / glutathione S-transferase / 遺伝子多型 / アスパラギナーゼ / 急性膵炎 / 遺伝子型 / 悪性リンパ腫 / 急性リンパ性白血病 / メトトレキサート / antisense / DMD / アンチセンス / 点突然変異 / 筋細胞 / 点変異 / DNA / キメラRNA / デュシェンヌ型筋ジストロフィー / 遺伝子異常 / Duchenne型 / アンチセンスオリゴ / 線維化因子 / 分子種 / Duchenne型筋ジストロフィー / 精神発達遅滞 / NF-κB / 筋ジストロフー / シグナル伝達因子 / リボゾーム Less
  • Research Projects

    (12 results)
  • Research Products

    (101 results)
  • Co-Researchers

    (9 People)
  •  Investigation of fibrotic factors during the exon-skipping therapy using antisense oligonucleotide for muscular dystrophy

    • Principal Investigator
      TAKESHIMA Yasuhiro
    • Project Period (FY)
      2011 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Kobe University
  •  Correlation between cis-acing elements and effects on inducing exon skippingPrincipal Investigator

    • Principal Investigator
      YAGI Mariko
    • Project Period (FY)
      2011 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Kobe University
  •  Genes responsible for mental retardation complicating to Duchenne muscular dystrophy

    • Principal Investigator
      MATSUO Masafumi
    • Project Period (FY)
      2009 – 2011
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Kobe Gakuin University
      Kobe University
  •  Research of signal transduction system in antisense therapy for muscular dystrophy

    • Principal Investigator
      TAKESHIMA Yasuhiro
    • Project Period (FY)
      2008 – 2010
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Kobe University
  •  ステロイドによるジストロフィン遺伝子のスプライシング修飾とジストロフィン産生Principal Investigator

    • Principal Investigator
      八木 麻理子
    • Project Period (FY)
      2008 – 2009
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Pediatrics
    • Research Institution
      Kobe University
  •  Study on treatment of Duchenne muscular dystrophy by inducing exon skipping

    • Principal Investigator
      MATSUO Masafumi
    • Project Period (FY)
      2007 – 2008
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Kobe University
  •  遺伝子多型とDNAメチル化解析に基づいた小児てんかん患者に対する薬物療法の適正化Principal Investigator

    • Principal Investigator
      八木 麻理子
    • Project Period (FY)
      2006 – 2007
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Pediatrics
    • Research Institution
      Kobe University
  •  Research of antisense oligonucleotide therapy for muscular dystrophy using knockout mouse as a model

    • Principal Investigator
      TAKESHIMA Yasuhiro
    • Project Period (FY)
      2006 – 2007
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Kobe University
  •  Elucidation of adverse events of methotrexate based on genomic and proteomic analysis in childhood leukemia patients

    • Principal Investigator
      SAKAEDA Toshiyuki
    • Project Period (FY)
      2005 – 2006
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Medical pharmacy
    • Research Institution
      Kobe University
  •  ジストロフィン遺伝子のスプライシング促進配列に結合する核蛋白の研究Principal Investigator

    • Principal Investigator
      八木 麻理子
    • Project Period (FY)
      2004 – 2005
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Pediatrics
    • Research Institution
      Kobe University
  •  Cellular biological study on the treatment of Duchenne muscular dystrophy with nucleic acids

    • Principal Investigator
      MATSUO Masafumi
    • Project Period (FY)
      2004 – 2005
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Kobe University
  •  Study on the treatment of Duchenne musclar dystrophy with chimera RNA/DNA

    • Principal Investigator
      MATSUO Masafumi
    • Project Period (FY)
      2001 – 2003
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Pediatrics
    • Research Institution
      Kobe University

All 2014 2013 2012 2011 2010 2009 2008 2007 2004 Other

All Journal Article Presentation

  • [Journal Article] A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy2014

    • Author(s)
      Dwianingsih EK, Malueka R, Nishida A, Lee T, Yagi M, Iijima K, Takeshima Y, Ito K, Matsuo M
    • Journal Title

      J Hum Genet

      Volume: (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591496
  • [Journal Article] Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients2014

    • Author(s)
      Lee T, Takeshima Y, Kusunoki N, Awano H, Yagi M, Matsuo M, and Iijima K
    • Journal Title

      J Hum Genet

      Volume: 59 Pages: 46-50

    • NAID

      40019946811

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591495
  • [Journal Article] A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy.2014

    • Author(s)
      Ery Kus Dwianingsih, Rusdy Malueka, Atsuhiro Nishida, Tomoko Lee, Mariko Yagi, Kazumoto Iijima, Yasuhiro Takeshima, Kyoko Ito, Masafumi Matsuo.
    • Journal Title

      J Hum Genet.

      Volume: in press

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591496
  • [Journal Article] Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients.2014

    • Author(s)
      Lee T, Takeshima Y, Kusunoki N, Awano H, Yagi M, Matsuo M, Iijima K.
    • Journal Title

      J Hum Genet.

      Volume: 59 Pages: 46-50

    • NAID

      40019946811

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591495
  • [Journal Article] Utility of transmural myocardial strain profile for prediction of early left ventricular dysfunction in patients with Duchenne muscular dystrophy2013

    • Author(s)
      Yamamoto T, Tanaka H, Matsumoto K, Lee T, Awano H, Yagi M, Imanishi T, Hayashi N, Takeshima Y, Kawai H, Kawano S, and Hirata K
    • Journal Title

      Am J Cardiol

      Volume: 111 Pages: 902-7

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591495
  • [Journal Article] Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28.2013

    • Author(s)
      Tran TH, Zhang Z, Yagi M, Lee T, Awano H, Nishida A, Okinaga T, Takeshima Y, Matsuo M.
    • Journal Title

      J Hum Genet.

      Volume: 58 Pages: 33-9

    • NAID

      10031145898

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591495
  • [Journal Article] A prostaglandin D2 metabolite is elevated in the urine of Duchenne muscular dystrophy patients and increases further from 8 years old.2013

    • Author(s)
      Nakagawa T, Takeuchi A, Kakiuchi R, Lee T, Yagi M, Awano H, Iijima K, Takeshima Y, Urade Y, Matsuo M.
    • Journal Title

      Clin Chim Acta.

      Volume: 423 Pages: 10-14

    • DOI

      10.1016/j.cca.2013.03.031

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591496, KAKENHI-PROJECT-24791060
  • [Journal Article] A prostaglandin D2 metabolite is elevated in the urine of Duchenne muscular dystrophy patients and increases further from 8 years old2013

    • Author(s)
      Taku Nakagawa, Atsuko Takeuchi, Ryohei Kakiuchi, Tomoko Lee, Mariko Yagi, Hiroyuki Awano, Kazumoto Iijima, Yasuhiro Takeshima, Yoshihiro Urade , Masafumi Matsuo
    • Journal Title

      Clinica Chimica Acta

      Volume: in press

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591495
  • [Journal Article] Utility of transmural myocardial strain profile for prediction of early left ventricular dysfunction in patients with Duchenne muscular dystrophy.2013

    • Author(s)
      Yamamoto T, Tanaka H, Matsumoto K, Lee T, Awano H, Yagi M, Imanishi T, Hayashi N, Takeshima Y, Kawai H, Kawano S, Hirata K.
    • Journal Title

      Am J Cardiol.

      Volume: 111 Pages: 902-7

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591495
  • [Journal Article] A prostaglandin D2 metabolite is elevated in the urine of Duchenne muscular dystrophy patients and increases further from 8 years old.2013

    • Author(s)
      Nakagawa T, Takeuchi A, Kakiuchi R, Lee T, Yagi M, Awano H, Iijima K, Takeshima Y, Urade Y, Matsuo M.
    • Journal Title

      Clin Chim Acta.

      Volume: 423 Pages: 10-4

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591495
  • [Journal Article] A prostaglandin D2 metabolite is elevated in the urine of Duchenne muscular dystrophy patients and increases further from 8 years old2013

    • Author(s)
      Nakagawa T, Takeuchi A, Kakiuchi R, Lee T, Yagi M, Awano H, Iijima K, Takeshima Y, Urade Y, and Matsuo M
    • Journal Title

      Clin Chim Acta

      Volume: 423 Pages: 10-4

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591495
  • [Journal Article] Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients.2013

    • Author(s)
      Lee T, Takeshima Y, Kusunoki N, Awano H, Yagi M, Matsuo M, Iijima K.
    • Journal Title

      J Hum Genet.

      Volume: 59 Issue: 1 Pages: 46-51

    • DOI

      10.1038/jhg.2013.119

    • NAID

      40019946811

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591496
  • [Journal Article] Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28.2013

    • Author(s)
      Thu Tran TH, Zhang Z, Yagi M, Lee T, Awano H, Nishida A, Okinaga T, Takeshima Y, Matsuo M.
    • Journal Title

      J Hum Genet

      Volume: 58 Issue: 1 Pages: 33-39

    • DOI

      10.1038/jhg.2012.131

    • NAID

      10031145898

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591496
  • [Journal Article] Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq282013

    • Author(s)
      Tran TH, Zhang Z, Yagi M, Lee T, Awano H, Nishida A, Okinaga T, Takeshima Y, and Matsuo M
    • Journal Title

      J Hum Genet

      Volume: 58 Pages: 33-9

    • NAID

      10031145898

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591495
  • [Journal Article] A G-to-T transversion at the splice acceptor site of dystrophin exon 14 shows multiple splicing outcomes that are not exemplified by transition mutations2012

    • Author(s)
      Ota M, Takeshima Y, Nishida A, Awano H, Lee T, Yagi M, and Matsuo M
    • Journal Title

      Genet Test Mol Biomarkers

      Volume: 16 Pages: 3-8

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591495
  • [Journal Article] Optimizing RNA/ENA Chimeric Antisense Oligonucleotides Using In Vitro Splicing.2012

    • Author(s)
      Takeshima Y, Yagi M, Matsuo M.
    • Journal Title

      Methods Mol Biol.

      Volume: 867 Pages: 131-41

    • Data Source
      KAKENHI-PROJECT-23591495
  • [Journal Article] Categorization of 77 dystrophin exons into 5 groups by a decision tree using indexes of splicing regulatory factors as decision markers2012

    • Author(s)
      Rusdy Ghazali Malueka, Yutaka Takaoka, Mariko Yagi, Hiroyuki Awano, Tomoko Lee, Ery Kus Dwianingsih, Atsushi Nishida, Yasuhiro Takeshima, Masafumi Matsuo
    • Journal Title

      BMC Genetics

      Volume: 13(23) Issue: 1 Pages: 23-23

    • DOI

      10.1186/1471-2156-13-23

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22590653, KAKENHI-PROJECT-23591495, KAKENHI-PROJECT-23591496
  • [Journal Article] Optimizing RNA/ENA chimeric antisense oligonucleotides using in vitro splicing2012

    • Author(s)
      Takeshima Y, Yagi M, and Matsuo M
    • Journal Title

      Methods Mol Biol

      Volume: 867 Pages: 131-41

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591495
  • [Journal Article] A G-to-T transversion at the splice acceptor site of dystrophin exon 14 shows multiple splicing outcomes that are not exemplified by transition mutations.2012

    • Author(s)
      Ota M, Takeshima Y, Nishida A, Awano H, Lee T, Yagi M, Matsuo M.
    • Journal Title

      Genet Test Mol Biomarkers.

      Volume: 16 Issue: 1 Pages: 3-8

    • DOI

      10.1089/gtmb.2010.0276

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591495, KAKENHI-PROJECT-23591496
  • [Journal Article] Optimizing RNA/ENA chimeric antisense oligonucleotides using in vitro splicing.2012

    • Author(s)
      Takeshima Y, Yagi M, Matsuo M.
    • Journal Title

      Methods Mol Biol.

      Volume: 867 Pages: 131-141

    • DOI

      10.1007/978-1-61779-767-5_9

    • ISBN
      9781617797668, 9781617797675
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591496
  • [Journal Article] Categorization of 77 dystrophin exons into 5 groups by a decision tree using indexes of splicing regulatory factors as decision markers.2012

    • Author(s)
      Malueka RG, Takaoka Y, Yagi M, Awano H, Lee T, Dwianingsih EK, Nishida A, Takeshima Y, Matsuo M.
    • Journal Title

      BMC Genet.

      Volume: 13 Pages: 23-23

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591495
  • [Journal Article] A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1.2012

    • Author(s)
      Lee T, Takeshima Y, Okizuka Y, Hamahira K, Kusunoki N, Awano H, Yagi M, Sakai N, Matsuo M, Iijima K
    • Journal Title

      Gene

      Volume: 512 Issue: 2 Pages: 456-459

    • DOI

      10.1016/j.gene.2012.10.060

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591496
  • [Journal Article] Categorization of 77 dystrophin exons into 5 groups by a decision tree using indexes of splicing regulatory factors as decision markers2012

    • Author(s)
      Malueka RG, Takaoka Y, Yagi M, Awano H, Lee T, Dwianingsih EK, Nishida A, Takeshima Y, and Matsuo M
    • Journal Title

      BMC Genet

      Volume: 13 Pages: 23-23

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591495
  • [Journal Article] Chemical treatment enhances skipping of a mutated exon in the dystrophin gene2011

    • Author(s)
      Nishida A, Kataoka N, Takeshima Y,Yagi M, Awano, H, Ota, M, Itoh K, Hagiwara M, and Matsuo M
    • Journal Title

      Nat Commun

      Volume: 2 Issue: 1 Pages: 308-308

    • DOI

      10.1038/ncomms1306

    • NAID

      120003001398

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22500288, KAKENHI-PROJECT-22603002, KAKENHI-PUBLICLY-23112706, KAKENHI-PROJECT-23591496
  • [Journal Article] Antisense oligonucleotide induced dystrophin exon 45 skipping at a low half-maximal effective concentration in a cell-free splicing system2011

    • Author(s)
      Malueka RG, Yagi M, Awano H, Lee T, Dwianingsih EK, Nishida A, Takeshima Y, and Matsuo M
    • Journal Title

      Nucleic Acid Ther

      Volume: 21 Pages: 347-53

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591495
  • [Journal Article] Antisense oligonucleotide induced dystrophin exon 45 skipping at a low half-maximal effective concentration in a cell-free splicing system2011

    • Author(s)
      Malueka RG, Yagi M, Awano H, Lee T, Dwianingsih EK, Nishida A, Takeshima Y, Matsuo M
    • Journal Title

      Nucleic Acid Ther

      Volume: 21(5) Issue: 5 Pages: 347-53

    • DOI

      10.1089/nat.2011.0310

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591496
  • [Journal Article] Moleculaar chaaracterizatioon of the 5'-UUTR of retinnal dysstrophin reveals a cryptiic intron thaat reggulates transslational acttivity2010

    • Author(s)
      Kubokawa, I., Takeshima, Y., Ota, M., Enomoto, M., Okizuka, Y., Mori, T., Nishimura, N., Awano, H., Yagi, M., Matsuo, M
    • Journal Title

      Mol Vis

      Volume: 16 Pages: 2590-2597

    • Data Source
      KAKENHI-PROJECT-21390311
  • [Journal Article] Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.2010

    • Author(s)
      Takeshima Y, Yagi M, Okizuka Y, Awano H, Zhang Z, Yamauchi Y, Nishio H, Matsuo M.
    • Journal Title

      J Hum Genet. 55

      Pages: 379-388

    • NAID

      10030735518

    • Data Source
      KAKENHI-PROJECT-20591223
  • [Journal Article] Molecular characterization of the 5'-UTR of retinal dystrophin reveals a cryptic intron that regulates translational activity.2010

    • Author(s)
      Kubokawa I, Takeshima Y, Ota M, Enomoto M, Okizuka Y, Mori T, Nishimura N, Awano H, Yagi M, Matsuo M.
    • Journal Title

      Mol Vis. 16

      Pages: 2590-2597

    • Data Source
      KAKENHI-PROJECT-20591223
  • [Journal Article] Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD.2010

    • Author(s)
      Okizuka Y, Takeshima Y, Itoh K, Zhang Z, Awano H, MarMarrar, Mar, Marma K, Kumagai T, Yagi M, Matsuo M.
    • Journal Title

      BMC Med Genet. 30

    • Data Source
      KAKENHI-PROJECT-20591223
  • [Journal Article] Molecular characterization of the 5'-UTR of retinal dystrophin reveals a cryptic intron that regulates translational activity2010

    • Author(s)
      Kubokawa, I., Takeshima, Y., Ota, M., Enomoto, M., Okizuka, Y., Mori, T., Nishimura, N., Awano, H., Yagi, M., Matsuo, M.
    • Journal Title

      Molecular vision

      Volume: 16 Pages: 2590-2597

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21390311
  • [Journal Article] Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA.2010

    • Author(s)
      Awano H, Malueka RG, Yagi M, Okizuka Y, Takeshima Y, Matsuo M.
    • Journal Title

      J Hum Genet. 55

      Pages: 785-790

    • NAID

      10030737817

    • Data Source
      KAKENHI-PROJECT-20591223
  • [Journal Article] Insertion of the IL1RAPL1 gene into the duplication junction of the dystrophin gene.2009

    • Author(s)
      Zhang Z, Yagi M, Okizuka Y, Awano H, Takeshima Y, Matsuo M.
    • Journal Title

      J Hum Genet. 54

      Pages: 466-473

    • NAID

      10030731391

    • Data Source
      KAKENHI-PROJECT-20591223
  • [Journal Article] In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene.2009

    • Author(s)
      Habara Y, Takeshima Y, Awano H, Okizuka Y, Zhang Z, Saiki K, Yagi M, Matsuo M.
    • Journal Title

      J Med Genet. 46

      Pages: 542-547

    • Data Source
      KAKENHI-PROJECT-20591223
  • [Journal Article] Small mutations detected by multiplex ligation-dependent probe amplification of the dystrophin gene.2009

    • Author(s)
      Okizuka Y, Takeshima Y, Awano H, Zhang Z, Yagi M, Matsuo M.
    • Journal Title

      Genet Test Mol Biomarkers. 13

      Pages: 427-431

    • Data Source
      KAKENHI-PROJECT-20591223
  • [Journal Article] A strong exonic splicing enhancer in dystrophin exon 19 achieve proper splicing without an upstream polypyrimidine tract.2008

    • Author(s)
      Habara Y, Doshita M, Hirozawa S, Yokono Y, Yagi M, Takeshima Y, Matsuo M.
    • Journal Title

      J Biochem. 143

      Pages: 303-310

    • NAID

      10024908594

    • Data Source
      KAKENHI-PROJECT-20591223
  • [Journal Article] High incidence of electrocardiogram abnormalities in young patients with duchenne muscular dystrophy.2008

    • Author(s)
      Takami Y, Takeshima Y, Awano H, Okizuka Y, Yagi M, Matsuo M.
    • Journal Title

      Pediatr Neurol. 39

      Pages: 399-403

    • Data Source
      KAKENHI-PROJECT-20591223
  • [Journal Article] Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes.2008

    • Author(s)
      Nishiyama A, Takeshima Y, Zhang Z, Habara Y, Tran TH, Yagi M, Matsuo M.
    • Journal Title

      Ann Hum Genet. 72

      Pages: 717-724

    • Data Source
      KAKENHI-PROJECT-20591223
  • [Journal Article] Tandem duplications of two separate fragments of the dystrophin gene in a patient with Duchenne muscular dystrophy.2008

    • Author(s)
      Zhang Z, Takeshima Y, Awano H, Nishiyama A, Okizuka Y, Yagi M, Matsuo M.
    • Journal Title

      J Hum Genet. 53

      Pages: 215-219

    • NAID

      10021248166

    • Data Source
      KAKENHI-PROJECT-20591223
  • [Journal Article] In vitro splicing analysis reveals that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G>A mutations in introns of the dystrophin gene.2008

    • Author(s)
      Habara, Y.,Takeshima, Y., Awano, H., Okizuka, Y., Zhang, Z., Saiki, K., Yagi, M., Matsuo, M.
    • Journal Title

      J Med Genet. in press.

      Pages: 0-0

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390284
  • [Journal Article] A Strong Exonic Splicing Enhancer in Dystrophin Exon 19 achieve proper splicing without an upstream polypyrimidine tract.2008

    • Author(s)
      Habara,Y.Doshita,M.Hirozawa,S. Yokono,Y.Yagi,M.Takeshima,Y. Matsuo,M.
    • Journal Title

      J Biochem.143

      Pages: 303-310

    • NAID

      10024908594

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390284
  • [Journal Article] Dystrophin nonsense mutations can generate alternative rescue transcrips in lymphocytes.2008

    • Author(s)
      Nisiyama, A., Takeshima, Y., Zhang, Z., Habara, Y., Tran, TH., Yagi, M., Matsuo, M.
    • Journal Title

      Ann Hum Genet. 72

      Pages: 717-724

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390284
  • [Journal Article] High incidence of electrocardiogram abnormalities in young patients with duchenne muscular dystrophy.2008

    • Author(s)
      Takami, Y., Takeshima, Y., Awano, H., Okizuka, Y., Yagi, M. and Masuo, M.
    • Journal Title

      Pediatr. Neurol. 39

      Pages: 399-403

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390284
  • [Journal Article] Wide ranges of serum myostatin concentrations in Duchenne muscular dystrophy patients.2008

    • Author(s)
      Awano, H., Takeshima, Y., Okizuka, Y., Saiki, K., Yagi, M., Matsuo, M.
    • Journal Title

      Clin Chim Acta. 391

      Pages: 115-117

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390284
  • [Journal Article] Tandem duplications of two separate fragments of the dystrophin gene in a patient with Duchenne muscular dystrophy.2008

    • Author(s)
      Zhang,Z. Takeshima,Y. Awano,H. Nishiyama,A. Okizuka,Y. Yagi,M. Matsuo,M.
    • Journal Title

      J Hum Genet. 53

      Pages: 215-219

    • NAID

      10021248166

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390284
  • [Journal Article] A nonsense mutation-created intraexonic splice site is active in the lymphocytes, but not in the skeletal muscle of a DMD patient.2007

    • Author(s)
      Tran VK. Takeshima Y, Zhang Z, Habara Y, Haginoya K, Nishiyama A, Yagi M, Matsuo M.
    • Journal Title

      Hum Genet. 120

      Pages: 737-742

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390284
  • [Journal Article] Two novel missense mutations in the myostation gene identified in Japanese patients with Duchenne muscular dystrophy.2007

    • Author(s)
      Nishiyama A, Takeshima Y, Saiki K, Narukage A, Ouazato Y, Yagi M, Matsuo M.
    • Journal Title

      BMC Medical Genetics.

      Pages: 624-630

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390284
  • [Journal Article] Chimeric RNA and 2'-O, 4'-C-ethylene-bridged nucleic acids have stronger activity than phosphorothioate oligodeoxynucleotides in induction of exon-19 skipping in dystrophin mRNA2004

    • Author(s)
      Yagi M
    • Journal Title

      Oligonucleotides 14

      Pages: 33-40

    • Data Source
      KAKENHI-PROJECT-16390301
  • [Journal Article] Chimeric RNA and 2'-O, 4'-C-ethylene-bridged nucleic acids have stronger activity than phosphorothioate oligodeoxynucleotides in induction of exon 19 sk2004

    • Author(s)
      Yagi M.
    • Journal Title

      Oligonucleotides Vol.14 No.1

      Pages: 33-40

    • Data Source
      KAKENHI-PROJECT-16790575
  • [Journal Article] ジストロフィン転写産物のエクソンスキッピング誘導療法(解説/特集)2004

    • Author(s)
      八木 麻理子
    • Journal Title

      Molecular Medicine 41巻3号

      Pages: 324-331

    • Data Source
      KAKENHI-PROJECT-16790575
  • [Journal Article] Chimeric RNA and 2'-O, 4'-C-ethylene-bridged nucleic acids have stronger activity than phosphorothioate oligodeoxynucleotides in induction of exon 19 skipping in dystrophin mRNA.2004

    • Author(s)
      Yagi, M., et al.
    • Journal Title

      Oligonucleotides 14

      Pages: 33-40

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390301
  • [Presentation] The carrier frequency in the mothers of 158 Japanese cases with Duchenne/Becker muscular dystrophy2013

    • Author(s)
      Lee T, Kusunoki N, Yagi M, Takeshima Y, Matsuo M. and Iijima K
    • Organizer
      European Human Genetics Conference 2013
    • Place of Presentation
      Paris, France
    • Data Source
      KAKENHI-PROJECT-23591495
  • [Presentation] ジストロフィン遺伝子スプライシングコンセンサス配列内変異によるスプライシング型の変化 に関わる因子の検討2013

    • Author(s)
      李知子、楠典子、八木麻理子、竹島泰弘、松尾雅文、飯島一誠、
    • Organizer
      日本人類遺伝学会第58回大会
    • Place of Presentation
      宮城県仙台市
    • Data Source
      KAKENHI-PROJECT-23591496
  • [Presentation] Three-dimensional gait analysis of Duchenne muscular dystrophy; a trial to evaluate the therapeutic effect of RNA/ENA chimera antisense oligonucleotide that induces dystrophin exon 45 skipping2013

    • Author(s)
      Takeshima Y, Yagi M, Lee T, Kusunoki N, Ojima I, Minami S, Asai T, Nakagawa A, Iijima K, and Matsuo M
    • Organizer
      18th International Congress of the World Muscle Society
    • Place of Presentation
      California, USA
    • Data Source
      KAKENHI-PROJECT-23591495
  • [Presentation] A novel splicing silencer generated by dystrophin exon 45 deletion could explain exon 44 skipping that modifies dystrophinopathy2013

    • Author(s)
      Matsuo M, Dwianingsih EM, Malueka RG, Nishida A, Lee T, Yagi M, Iijima K, and Takeshima Y
    • Organizer
      American Society of Human Genetics, the 63^<rd> Annual Meeting
    • Place of Presentation
      Boston, USA
    • Data Source
      KAKENHI-PROJECT-23591495
  • [Presentation] The carrier frequency in the mothers of 158 Japanese cases with Duchenne/Becker muscular dystrophy.2013

    • Author(s)
      Lee T, Kusunoki N, Yagi M, Takeshima Y, Matsuo M, Iijima K.
    • Organizer
      European Human Genetics Conference 2013
    • Place of Presentation
      Paris
    • Data Source
      KAKENHI-PROJECT-23591495
  • [Presentation] A prostaglandin D2 metabolite is elevated in the urine samples of patients with Duchenne muscular dystrophy2013

    • Author(s)
      Nakagawa T, Takeuchi A, Kakiuchi R, Lee T, Yagi M, Awano H, Iijima K, Takeshima Y, Urade Y, and Matsuo M
    • Organizer
      18th International Congress of the World Muscle Society
    • Place of Presentation
      California, USA
    • Data Source
      KAKENHI-PROJECT-23591495
  • [Presentation] ジストロフィン遺伝子スプライシングコンセンサス配列内変異によるスプライシング型の変化に関わる因子の検討2013

    • Author(s)
      李知子、楠典子、八木麻理子、竹島泰弘、松尾雅文、飯島一誠
    • Organizer
      日本人類遺伝学会第58回大会
    • Place of Presentation
      宮城県仙台市
    • Data Source
      KAKENHI-PROJECT-23591496
  • [Presentation] Three-dimensional gait analysis of Duchenne muscular dystrophy; a trial to evaluate the therapeutic effect of RNA/ENA chimera antisense oligonucleotide that induces dystrophin exon 45 skipping.2013

    • Author(s)
      Takeshima Y, Yagi M, Lee T, Kusunoki N, Ojima I, Minami S, Asai T, Nakagawa A, Iijima K, Matsuo M.
    • Organizer
      18th International Congress of the World Muscle Society
    • Place of Presentation
      California
    • Data Source
      KAKENHI-PROJECT-23591495
  • [Presentation] A novel splicing silencer generated by dystrophin exon 45 deletion could explain exon 44 skipping that modifies dystrophinopathy.2013

    • Author(s)
      Matsuo M, Dwianingsih EM, Maliueka RG, Nishida A, Lee T, Yagi M, Iijima K, Takeshima Y.
    • Organizer
      American Society of Human Genetics
    • Place of Presentation
      Boston
    • Data Source
      KAKENHI-PROJECT-23591495
  • [Presentation] A prostaglandin D2 metabolite is elevated in the urine samples of patients with Duchenne muscular dystrophy.2013

    • Author(s)
      Nakagawa T, Takeuchi A, Kakiuchi R, Lee T, Yagi M, Awano H, Iijima K, Takeshima Y, Urade Y, Matsuo M.
    • Organizer
      18th International Congress of the World Muscle Society
    • Place of Presentation
      California
    • Data Source
      KAKENHI-PROJECT-23591495
  • [Presentation] A small chemical, TG003, enhances skipping of mutated dystrophin exons : the third example revealing a decrease of exonic splicing enhancer density in common2012

    • Author(s)
      Nishida A, Takeshima Y, Kataoka N, Yagi M, Awano H, Lee T, Iijima K, Hagiwara M, Matsuo M
    • Organizer
      The American Society of Human Genetics, the 62th Annual Meeting
    • Place of Presentation
      San Francisco
    • Data Source
      KAKENHI-PROJECT-23591496
  • [Presentation] Dystrophin gene mutations in three dystrophinopathy patients with severe cardiomyopathy2012

    • Author(s)
      Awano H, Lee T, Yagi M, Takeshima Y, Matsuo M, Iijima K
    • Organizer
      Pediatric Academic Societies Annual Meeting
    • Place of Presentation
      Boston
    • Data Source
      KAKENHI-PROJECT-23591496
  • [Presentation] A small chemical, TG003, enhances skipping of mutated dystrophin exons: the third example revealing a decrease of exonic splicing enhancer density in common.2012

    • Author(s)
      Nishida A, Takeshima Y, Kataoka N, Yagi M, Awano H, Lee T, Iijima K, Hagiwara M, Matsuo M.
    • Organizer
      The American Society of Human Genetics, the 62th Annual Meeting
    • Place of Presentation
      San Francisco
    • Data Source
      KAKENHI-PROJECT-23591495
  • [Presentation] Duchenne型筋ジストロフィーにおける尿プロスタグランディンD2代謝産物の排泄の増加2012

    • Author(s)
      中川卓、李知子、粟野宏之、八木麻理子、松尾雅文、竹島泰弘
    • Organizer
      第54回日本小児神経学会総会
    • Place of Presentation
      札幌
    • Data Source
      KAKENHI-PROJECT-23591496
  • [Presentation] Duchenne/Becker型筋ジストロフィーにおけるジストロフィン遺伝子の微小変異の割合は増加傾向にある2012

    • Author(s)
      李知子、楠典子、粟野宏之、八木麻理子、竹島泰弘、松尾雅文、飯島一誠
    • Organizer
      日本人類遺伝学会57回大会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-23591496
  • [Presentation] A small chemical, TG003, enhances skipping of mutated dystrophin exons: the third example revealing a decrease of exonic splicing enhancer density in common.2012

    • Author(s)
      Nishida A, Takeshima Y, Kataoka N, Yagi M, Awano H, Lee T, Iijima K, Hagiwara M, Matsuo M.
    • Organizer
      The American Society of Human Genetics, the 62th Annual Meeting
    • Place of Presentation
      San Francisco
    • Data Source
      KAKENHI-PROJECT-23591496
  • [Presentation] Dystrophin Gene Mutations in Three Dystrophynopathy Patients with Severe Cardiomyopathy.2012

    • Author(s)
      Awano H, Lee T, Yagi M, Takeshima Y, Matsuo M, Iijima K.
    • Organizer
      Pediatric Academic Societies Annual Meeting
    • Place of Presentation
      Boston
    • Data Source
      KAKENHI-PROJECT-23591495
  • [Presentation] Duchenne/Becker型筋ジストロフィーにおけるジストロフィン遺伝子の微小変異の割合は増加傾向にある2012

    • Author(s)
      李知子、楠典子、粟野宏之、八木麻理子、竹島泰弘、松尾雅文、飯島一誠
    • Organizer
      日本人類遺伝学会第57回大会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-23591496
  • [Presentation] Duchenne/Becker型筋ジストロフィー兄弟例における心機能障害の検討2012

    • Author(s)
      李知子、粟野宏之、八木麻理子、竹島泰弘、松尾雅文、飯島一誠
    • Organizer
      第115回日本小児科学会学術集会
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-23591496
  • [Presentation] A small chemical, TG003, enhances skipping of mutated dystrophin exons : the third example revealing a decrease of exonic splicing enhancer density in common2012

    • Author(s)
      Nishida A, Takeshima Y, Kataoka N, Yagi M, Awano H, Lee T, Iijima K, Hagiwara M, and Matsuo M
    • Organizer
      The American Society of Human Genetics, the 62^<nd> Annual Meeting
    • Place of Presentation
      San Francisco, USA
    • Data Source
      KAKENHI-PROJECT-23591495
  • [Presentation] ベサフィブラートにより骨格筋症状が改善した極長鎖アシルCoA脱水素酵素欠損症の1例2012

    • Author(s)
      八木麻理子、楠典子、李知子、粟野宏之、但馬剛、小林弘典、長谷川有紀、山口清次、竹島泰弘、飯島一誠
    • Organizer
      第54回日本先天代謝異常学会
    • Place of Presentation
      岐阜
    • Data Source
      KAKENHI-PROJECT-23591496
  • [Presentation] Antisense RNA/Ethylene-bridged nucleic acid chimera induces exon 45 skipping in cultured myocytes from DMD patients with 6 different deletion mutations2011

    • Author(s)
      Yagi M, Lee T, Awano H, Takeshima Y, Matsuo M
    • Organizer
      The American Society of Human Genetics 61st Annual Meeting
    • Place of Presentation
      Montreal
    • Data Source
      KAKENHI-PROJECT-23591495
  • [Presentation] Antisense RNA/Ethylene-bridged nucleic acid chimera induces exon 45 skipping in cultured myocytes from DMD patients with 6 different deletion mutaions.2011

    • Author(s)
      Yagi M,
    • Organizer
      The American Society of Human Genetics 61th Annual Meeting
    • Place of Presentation
      Montreal
    • Data Source
      KAKENHI-PROJECT-23591496
  • [Presentation] Antisense RNA/Ethylene-bridged nucleic acid chimera induces exon 45 skipping in cultured myocytes from DMD patients with 6 different deletion mutaions2011

    • Author(s)
      Yagi M, Lee T, Awano H, Takeshima Y, Matsuo M
    • Organizer
      The American Society of Human Genetics 61th Annual Meeting
    • Place of Presentation
      Montreal
    • Data Source
      KAKENHI-PROJECT-23591496
  • [Presentation] Antisense RNA/ ethylene-bridged nucleic acid chimera induces exon skipping in cultured myocytes from DMD patients with 6 different deletion mutations2011

    • Author(s)
      Yagi M, Lee T, Awano H, Takeshima Y, and Matsuo M
    • Organizer
      The American Society of Human Genetics 61st Annual Meeting
    • Place of Presentation
      Montral, Canada
    • Data Source
      KAKENHI-PROJECT-23591495
  • [Presentation] ジストロフィン遺伝子エクソンスキッピングを誘導する低分子化合物の同定と治療への応用2011

    • Author(s)
      八木麻理子、李知子、粟野宏之、伊東恭子、竹島泰弘、松尾雅文
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-23591496
  • [Presentation] Long-term administration of antisense oligonucleotide against dystrophin exon 19 for the treatment of Duchenne muscular dystrophy with exon 20 deletion.2010

    • Author(s)
      Matsuo M, Takeshima Y, Yagi M, Awano H.
    • Organizer
      XII International Congress on Neuromusular Diseases.
    • Place of Presentation
      Naples.
    • Data Source
      KAKENHI-PROJECT-20591223
  • [Presentation] Genotype-phenotype correlation of the dystrophinopathy cases with small mutations in the dystrophin gene.2010

    • Author(s)
      Awano H, Takeshima Y, Yagi M, Yamauchi Y, Malueka RG, Dwianingsih EK, Matsuo M.
    • Organizer
      Pediatric Academic Societies' 2010 Annual Meeting.
    • Place of Presentation
      Vancouver.
    • Data Source
      KAKENHI-PROJECT-20591223
  • [Presentation] Antisense RNA/ENA chimera against dystrophin exon 45 leads exon 45 skipping followed by dystrophin expression in cells from duchenne muscular dystrophy.2010

    • Author(s)
      Yagi M, Takeshima Y, Awano H, Ota M, Malueka RG, Dwianingsih EK, Nishida A, Lee T, Matsuo M.
    • Organizer
      6th Annual Meeting of the Oligonucleotide Therapeutics Society.
    • Place of Presentation
      Southern California
    • Data Source
      KAKENHI-PROJECT-20591223
  • [Presentation] Antisense RNA/ethylene-bridged nucleic acids chimera induces exon 45 skipping and restores dystrophin expression in myocytes of Duchenne muscular dystrophy.2010

    • Author(s)
      Yagi M, Ota M, Awano H, Takeshima Y, Matsuo M.
    • Organizer
      15th International Congress of The World Muscle Society.
    • Place of Presentation
      Kumamoto
    • Data Source
      KAKENHI-PROJECT-20591223
  • [Presentation] Antisense RNA/ethylene- bridged nucleic acid chimera induces exon 45 skipping and restores dystrophin expression in DMD muscle cells.2010

    • Author(s)
      Yagi M, Ota M, Awano H, Takeshima Y, Matsuo M.
    • Organizer
      XII International Congress on Neuromusular Diseases.
    • Place of Presentation
      Naples.
    • Data Source
      KAKENHI-PROJECT-20591223
  • [Presentation] Mutation spectrum of the dystrophin gene in 456 Duchienne/Becker muscular dystrophy cases from one Japanese referral center.2010

    • Author(s)
      Takeshima Y, Yagi M, Ota M, Awano H, Yamauchi Y, Malueka RG, Dwianingsih EK, Nishio H, Matsuo M.
    • Organizer
      15th International Congress of The World Muscle Society.
    • Place of Presentation
      Kumamoto.
    • Data Source
      KAKENHI-PROJECT-20591223
  • [Presentation] Chemical treatment of muscular dystrophy that enhances skipping of the mutated exon in the dystrophin gene.2010

    • Author(s)
      Nishida A, Kataoka N, Takeshima Y, Yagi M, Awano H, Ota M, Itoh K, Hagiwara M, Matsuo M.
    • Organizer
      The American Society of Human Genetics 60th Annual Meeting.
    • Place of Presentation
      Washigton, DC.
    • Data Source
      KAKENHI-PROJECT-20591223
  • [Presentation] Genotype-phenotype correlation of the dystrophinopathy cases with small mutations in the dystrophin gene2010

    • Author(s)
      Awano H, Takeeshima Y, YaYagi M, Yamaauchi Y, MMalueka RGG, Dwianingssih EK, Maatsuo M
    • Organizer
      Pediatric Academic Societies. 2010 Annual Meeting
    • Place of Presentation
      Vancouver
    • Data Source
      KAKENHI-PROJECT-21390311
  • [Presentation] 培養筋細胞におけるアンチセンスオリゴヌクレオチドによるエクソン45のスキッピング誘導率は変異によって異なる2010

    • Author(s)
      八木麻理子
    • Organizer
      第52回日本小児神経学会総会
    • Place of Presentation
      福岡国際会議場(福岡県)
    • Data Source
      KAKENHI-PROJECT-20591223
  • [Presentation] Chemical treatment of muscular dystrophy that enhances skiping of the mutated exon in the dystrophin gene2010

    • Author(s)
      Nishida A, Kataoka N, Takeshima Y, Yagi M, Awano H, Ota M, Itoh K, Hagiwara M, Matsuo M
    • Organizer
      The American Society of Human Genetics60th Anual Meeting
    • Place of Presentation
      Washigton, DC
    • Data Source
      KAKENHI-PROJECT-21390311
  • [Presentation] High incidence of outlier from the reading-frame rule in dystrophinopathy patients with duplication mutations in the dystrophin gene.2009

    • Author(s)
      Yagi M, Awano H, Okizuka Y, Takeshima Y, Matsuo M.
    • Organizer
      Pediatric Academic Societies' 2009 Annual Meeting.
    • Place of Presentation
      Baltimore.
    • Data Source
      KAKENHI-PROJECT-20591223
  • [Presentation] In vitro splicing analysis reveals that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G>A mutations in introns of the dystrophin gene.2009

    • Author(s)
      Matsuo M, Habara Y, Takeshima Y, Awano H, Okizuka Y, Zhang Z, Yagi M.
    • Organizer
      14th International Congress of The World Muscle Society.
    • Place of Presentation
      Geneva.
    • Data Source
      KAKENHI-PROJECT-20591223
  • [Presentation] Antisense RNA/ethylene-bridged nucleic acids chimera induces exon skipping and restores dystrophin expression in myocytes of Duchenne muscular dystrophy.2009

    • Author(s)
      Yagi M, Yamauchi Y, Awano H, Takeshima Y, Matsuo M.
    • Organizer
      The American Society of Human Genetics 59th Annual Meeting.
    • Place of Presentation
      Hawaii.
    • Data Source
      KAKENHI-PROJECT-20591223
  • [Presentation] Splicing errors casued by small mutations in the dystrophin gene are different between lymphocytes and muscle tissues.2008

    • Author(s)
      Okizuka Y, Awano H, Yagi M, Takeshima Y, Matsuo M.
    • Organizer
      Pediatric Academic Societies' 2008 Annual Meeting.
    • Place of Presentation
      Hawaii.
    • Data Source
      KAKENHI-PROJECT-20591223
  • [Presentation] ジストロフィン遣伝子の微小変異によって誘導されるスプライシング異常に関する検討2008

    • Author(s)
      八木麻理子, ら
    • Organizer
      第50回日本小児神経学会総会
    • Place of Presentation
      東京
    • Year and Date
      2008-05-30
    • Data Source
      KAKENHI-PROJECT-20790727
  • [Presentation] Mutation spectrum of the dystrophin gene in 433 Japanese dystrophinopathy cases.2008

    • Author(s)
      Takeshima, Y. Yagi, M. Okizuka, Y. Awano, H. Zang, Z. Saiki, K. Matsuo, M.
    • Organizer
      The American Society of Human Genetics 58th Annual Meeting.
    • Year and Date
      2008-11-14
    • Data Source
      KAKENHI-PROJECT-19390284
  • [Presentation] A novel retrotransposon that was recently inserted into exon 67 of the dystrophin gene.2008

    • Author(s)
      Awano H, Yagi M, Okizuka Y, Zhang Z, Takeshima Y, Matsuo M.
    • Organizer
      Joint 7th Human Genome Organization (HUGO)-Pacific Meeting and the 8th Asia-Pacific Conference on Human Genetics.
    • Place of Presentation
      Cebu.
    • Data Source
      KAKENHI-PROJECT-20591223
  • [Presentation] Mutation spectrum of the dystrophin gene in 433 Japanese dystrophinopathy cases.2008

    • Author(s)
      Takeshima Y, Yagi M, Okizuka Y, Awano H, Zang Z, Saiki K, Matsuo M.
    • Organizer
      The American Society of Human Genetics 58th Annual Meeting.
    • Place of Presentation
      Philadelphia.
    • Data Source
      KAKENHI-PROJECT-20591223
  • [Presentation] Chronological changes of serum creatine kinase(CK)levels in molecularly confirmed Duchenne muscular dystrophy cases and examination of the cases with deviated CK levels.2007

    • Author(s)
      Okizuka,Y. Takeshima,Y. Yagi,M. Oyazato,Y. Awano,H. Zhang,Z. Matsuo,M.
    • Organizer
      57th The American Society of Human Genetics.
    • Year and Date
      2007-10-26
    • Data Source
      KAKENHI-PROJECT-19390284
  • [Presentation] The Xq28 inversion breakpoint interrupted a novel noncoding gene in a patient with Duchenne muscular dystrophy with severe mental retardation.2007

    • Author(s)
      Yagi,M. Tran Thi,H.T. Zhang,Z. Nishiyama,A. Oyazato,Y. Okinaga,T. Takeshima,Y. Matsuo,M.
    • Organizer
      57th The American Society of Human Genetics.
    • Year and Date
      2007-10-24
    • Data Source
      KAKENHI-PROJECT-19390284
  • [Presentation] VEGF遺伝子型と未熟児網膜症の関連についての検討2007

    • Author(s)
      八木 麻理子
    • Organizer
      日本小児科学会
    • Place of Presentation
      国立京都国際会館
    • Year and Date
      2007-04-22
    • Data Source
      KAKENHI-PROJECT-18790716
  • [Presentation] A complex insertion event produced a chimeric dystrophin-IL1RAPL1 transcript in the dystrophin gene.2007

    • Author(s)
      Zhang,Z. Takeshima,Y. Yagi,M. Nishiyama,A. Okizuka,Y. Awano,H. Matsuo,M.
    • Organizer
      57th The American Society of Human Genetics.
    • Year and Date
      2007-10-26
    • Data Source
      KAKENHI-PROJECT-19390284
  • [Presentation] A novel retrotransposon that was recently inserted into exon 67 of the dystrophin gene.2007

    • Author(s)
      Awano,H. Yagi,M. Okizuka,Y. Zhang,Z. Takeshima,Y. Matsuo,M.
    • Organizer
      57th The American Society of Human Genetics.
    • Year and Date
      2007-10-26
    • Data Source
      KAKENHI-PROJECT-19390284
  • [Presentation] Evolutionary acquired alternative splicing in the 5'-UTR of retinal dystrophin transcript is a default pathway with weaker translational activity than nonspliced retina specific form

    • Author(s)
      Kubokawa I, Yagi M, Awano H, Ota M, Nishida A, Dwianingsih EK, Malueka RG, Takeshima Y, Matsuo M
    • Data Source
      KAKENHI-PROJECT-21390311
  • 1.  TAKESHIMA Yasuhiro (40281141)
    # of Collaborated Projects: 9 results
    # of Collaborated Products: 90 results
  • 2.  MATSUO Masafumi (10157266)
    # of Collaborated Projects: 6 results
    # of Collaborated Products: 40 results
  • 3.  AWANO Hiroyuki (30437470)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 20 results
  • 4.  SAKAEDA Toshiyuki (00304098)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 5.  OKUMURA Katsuhiko (60025707)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 6.  OKAMURA Noboru (60379401)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 7.  NAKAMURA Tsutomu (80379411)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 8.  HAGIWARA Masatoshi
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 9.  高岡 裕
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results

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