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Integrated understanding of dermatan sulfate through uncovering pathophysiology of musculocontractural Ehlers-Danlos syndrome

Research Project

Project/Area Number 19H03616
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Review Section Basic Section 52050:Embryonic medicine and pediatrics-related
Research InstitutionShinshu University

Principal Investigator

Kosho Tomoki  信州大学, 学術研究院医学系, 教授 (90276311)

Co-Investigator(Kenkyū-buntansha) 角田 佳充  九州大学, 農学研究院, 教授 (00314360)
岡田 尚巳  東京大学, 医科学研究所, 教授 (00326828)
野村 義宏  東京農工大学, 農学部, 教授 (10228372)
岳 鳳鳴  信州大学, 学術研究院医学系, 助教 (20532865)
松本 健一  島根大学, 学術研究院医学・看護学系, 教授 (30202328)
上原 将志  信州大学, 医学部附属病院, 助教(診療) (30748108)
水本 秀二  名城大学, 薬学部, 准教授 (40443973)
三宅 紀子  国立研究開発法人国立国際医療研究センター, 研究所, 疾患ゲノム研究部 部長 (40523494)
吉沢 隆浩  信州大学, 学術研究院総合人間科学系, 助教 (40713392)
渡邉 敬文  酪農学園大学, 獣医学群, 准教授 (50598216)
高橋 淳  信州大学, 学術研究院医学系, 教授 (60345741)
宮田 真路  東京農工大学, 農学部, 准教授 (60533792)
山田 修平  名城大学, 薬学部, 教授 (70240017)
高野 亨子  信州大学, 学術研究院医学系(医学部附属病院), 講師 (70392420)
笠原 優子  日本医科大学, 医学部, 助教 (90391911)
山口 智美  信州大学, 医学部附属病院, 助教(特定雇用) (90802835)
林 正徳  信州大学, 学術研究院医学系(医学部附属病院), 講師 (20624703)
Project Period (FY) 2019-04-01 – 2022-03-31
Project Status Completed (Fiscal Year 2021)
Budget Amount *help
¥17,420,000 (Direct Cost: ¥13,400,000、Indirect Cost: ¥4,020,000)
Fiscal Year 2021: ¥5,590,000 (Direct Cost: ¥4,300,000、Indirect Cost: ¥1,290,000)
Fiscal Year 2020: ¥5,590,000 (Direct Cost: ¥4,300,000、Indirect Cost: ¥1,290,000)
Fiscal Year 2019: ¥6,240,000 (Direct Cost: ¥4,800,000、Indirect Cost: ¥1,440,000)
Keywords筋拘縮型エーラス・ダンロス症候群 / デルマタン硫酸 / マウスモデル / iPS細胞 / 包括的病態解析
Outline of Research at the Start

筋拘縮型(古庄型)エーラス・ダンロス症候群は、デルマタン硫酸の合成に必要な酵素の先天性の欠損により、先天性多発関節拘縮、皮膚過伸展性・脆弱性、全身関節弛緩・脱臼・変形、巨大皮下血腫などを生じる疾患です。研究代表者が発見し、疾患概念を確立、世界の研究をリードしてきました。本研究は、ALL JAPANの研究体制を基盤に、患者様由来の組織、iPS細胞、マウスモデルを用いた包括的解析を行い、デルマタン硫酸欠乏が、細胞・組織・臓器にどのような影響を及ぼすか解明することを目的としています。デルマタン硫酸の発生・結合組織維持における普遍的意義が明らかになることが期待されます。

Outline of Final Research Achievements

Musculocontractural Ehlers-Danlos Syndrome (mcEDS; EDS Kosho Type) is a hereditary connective tissue disorder, caused by generalized depletion of dermatan sulfate associated with biallelic pathogenic variants in CHST14 (mcEDS-CHST14) or DSE (mcEDS-DSE). It is characterized by congenital malformations and progressive connective tissue fragility-related manifestations. Principal Investigator (PI) of this study found and delineated this disorder based on domestic and international collaboration. Through this study, PI and the colleagues (clinicians, basic researchers) demonstrated the natural history from detailed and comprehensive observation of 66 patients from 48 families. They also uncovered the pathomechanisms of skin (fragility) and muscle (myopathic changes) manifestations of the mouse models (knock-out mice, mice generated by CRISPR/Cas9-mediated genomic editing).

Academic Significance and Societal Importance of the Research Achievements

本研究は、本邦の研究者(代表者)が発見、国内共同研究で原因遺伝子を単離し、疾患概念を確立した筋拘縮型(古庄型)エーラス・ダンロス症候群を対象とした独創的なプロジェクトである。国際共同臨床調査を主導し成果を発信することで、世界における本疾患の診療向上に貢献した。また、マウスモデルの皮膚および筋病変の解析を通じてデルマタン硫酸の生物学的意義を示した。臨床・基礎の様々な分野の研究者が本プロジェクトを通じて交流を重ね、デルマタン硫酸の生物的意義を探索するユニークな学術研究領域を形成した。稀少疾患を入り口に生命の本質に迫る新たな融合研究の可能性を示す上で重要なプロジェクトと位置付けられる。

Report

(4 results)
  • 2021 Annual Research Report   Final Research Report ( PDF )
  • 2020 Annual Research Report
  • 2019 Annual Research Report
  • Research Products

    (73 results)

All 2022 2021 2020 2019 Other

All Int'l Joint Research (18 results) Journal Article (16 results) (of which Int'l Joint Research: 4 results,  Peer Reviewed: 13 results,  Open Access: 10 results) Presentation (37 results) (of which Int'l Joint Research: 9 results,  Invited: 8 results) Book (1 results) Remarks (1 results)

  • [Int'l Joint Research] Ghent University Hospital/Ghent University(ベルギー)

    • Related Report
      2021 Annual Research Report
  • [Int'l Joint Research] Medical University of Innsbruck(オーストリア)

    • Related Report
      2021 Annual Research Report
  • [Int'l Joint Research] University of California/NIH/University of South Florida(米国)

    • Related Report
      2021 Annual Research Report
  • [Int'l Joint Research] Radboud University Medical Centre/Leiden University Medical Center(オランダ)

    • Related Report
      2021 Annual Research Report
  • [Int'l Joint Research] The Hospital for Sick Children(カナダ)

    • Related Report
      2021 Annual Research Report
  • [Int'l Joint Research]

    • Related Report
      2021 Annual Research Report
  • [Int'l Joint Research] Ghent University Hospital/Ghent University(ベルギー)

    • Related Report
      2020 Annual Research Report
  • [Int'l Joint Research] Medical University of Innsbruck(オーストリア)

    • Related Report
      2020 Annual Research Report
  • [Int'l Joint Research] University of California/Children’s Hospital of New Orleans/Mayo Clinic(米国)

    • Related Report
      2020 Annual Research Report
  • [Int'l Joint Research] Radboud University Medical Centre/VU University Medical Center(オランダ)

    • Related Report
      2020 Annual Research Report
  • [Int'l Joint Research] The Hospital for Sick Children(カナダ)

    • Related Report
      2020 Annual Research Report
  • [Int'l Joint Research]

    • Related Report
      2020 Annual Research Report
  • [Int'l Joint Research] Ghent University Hospital(ベルギー)

    • Related Report
      2019 Annual Research Report
  • [Int'l Joint Research] Aalborg University Hospital/Aarhus University Hospital(デンマーク)

    • Related Report
      2019 Annual Research Report
  • [Int'l Joint Research] Hospital Kuala Lumpur/Sabah Women and Children's Hospital(マレーシア)

    • Related Report
      2019 Annual Research Report
  • [Int'l Joint Research] Radboud University/Leiden University Medical Center(オランダ)

    • Related Report
      2019 Annual Research Report
  • [Int'l Joint Research] Innsbruck Medical University(オーストリア)

    • Related Report
      2019 Annual Research Report
  • [Int'l Joint Research]

    • Related Report
      2019 Annual Research Report
  • [Journal Article] A new mouse model of Ehlers-Danlos syndrome generated using CRISPR/Cas9-mediated genomic editing.2021

    • Author(s)
      Yuko Nitahara-Kasahara, Shuji Mizumoto, et al.
    • Journal Title

      Disease Models & Mechanisms

      Volume: 14 Issue: 12

    • DOI

      10.1242/dmm.048963

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Clinical and molecular features of 66 patients with musculocontractural Ehlers?Danlos syndrome caused by pathogenic variants in <i>CHST14</i> (mcEDS-<i>CHST14</i>)2021

    • Author(s)
      Minatogawa Mari、... 、Miyake Noriko、Kosho Tomoki
    • Journal Title

      Journal of Medical Genetics

      Volume: Epub ahead of print Issue: 9 Pages: 107623-107623

    • DOI

      10.1136/jmedgenet-2020-107623

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Myopathy associated with dermatan sulfate-deficient decorin and myostatin in musculocontractural Ehlers-Danlos syndrome: a mouse model investigation2021

    • Author(s)
      Yuko Nitahara-Kasahara, Guillermo Posadas-Herrera, Shuji Mizumoto, Aki Nakamura-Takahashi, Yukiko U. Inoue, Takayoshi Inoue, Yoshihiro Nomura, Shin’ichi Takeda, Shuhei Yamada, Tomoki Kosho, Takashi Okada
    • Journal Title

      Frontiers in Cell and Developmental Biology

      Volume: 9 Pages: 695021-695021

    • DOI

      10.3389/fcell.2021.695021

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Ehlers Danlos Syndrome with Glycosaminoglycan Abnormalities2021

    • Author(s)
      Miyake Noriko、Kosho Tomoki、Matsumoto Naomichi
    • Journal Title

      Adv Exp Med Biol

      Volume: 1348 Pages: 235-249

    • DOI

      10.1007/978-3-030-80614-9_10

    • ISBN
      9783030806132, 9783030806149
    • Related Report
      2021 Annual Research Report
  • [Journal Article] Quantification of type I collagen α1 in culture medium using nano-liquid chromatography tandem mass spectrometry2021

    • Author(s)
      Ao Gong、Kazuo Yamada、Li Jing、Haruo Takeshita、Ken-ichi Matsumoto
    • Journal Title

      Shimane J Med Sci

      Volume: 38 Pages: 1-5

    • NAID

      130008106018

    • Related Report
      2021 Annual Research Report
  • [Journal Article] Congenital Disorders of Deficiency in Glycosaminoglycan Biosynthesis2021

    • Author(s)
      Shuji Mizumoto, Shuhei Yamada
    • Journal Title

      Frontiers in Genetics

      Volume: 12 Pages: 717535-717535

    • DOI

      10.3389/fgene.2021.717535

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] An Overview of in vivo Functions of Chondroitin Sulfate and Dermatan Sulfate Revealed by Their Deficient Mice2021

    • Author(s)
      Shuji Mizumoto, Shuhei Yamada
    • Journal Title

      Frontiers in Cell and Developmental Biology

      Volume: 9 Pages: 764781-764781

    • DOI

      10.3389/fcell.2021.764781

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Systematic investigation of the skin in Chst14-/- mice: a model for skin fragility in musculocontractural Ehlers-Danlos syndrome caused by CHST14 variants (mcEDS-CHST14)2021

    • Author(s)
      Takuya Hirose*, Shuji Mizumoto*, Ayana Hashimoto, Yuki Takahashi, Takahiro Yoshizawa, Yuko Nitahara-Kasahara, Naoki Takahashi, Jun Nakayama, Kazushige Takehana, Takashi Okada, Yoshihiro Nomura, Shuhei Yamada, Tomoki Kosho, Takafumi Watanabe (*equal contribution)
    • Journal Title

      Glycobiology

      Volume: 31 Issue: 2 Pages: 137-150

    • DOI

      10.1093/glycob/cwaa058

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Congenital Disorders Caused by Defects in Catabolism of Glycosaminoglycans2020

    • Author(s)
      Shuhei Yamada, Shuji Mizumoto
    • Journal Title

      Trends in Glycoscience and Glycotechnology

      Volume: 32 Issue: 188 Pages: E127-E133

    • DOI

      10.4052/tigg.1968.1E

    • NAID

      130007879857

    • ISSN
      0915-7352, 1883-2113
    • Year and Date
      2020-07-25
    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Congenital Disorders Caused by Defects in Anabolism of Glycosaminoglycans2020

    • Author(s)
      Shuji Mizumoto, Shuhei Yamada
    • Journal Title

      Trends in Glycoscience and Glycotechnology

      Volume: 32 Issue: 186 Pages: E45-E51

    • DOI

      10.4052/tigg.1759.1E

    • NAID

      130007815517

    • ISSN
      0915-7352, 1883-2113
    • Year and Date
      2020-03-25
    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] osterior Spinal Fusion for Severe Spinal Deformities in Musculocontractural Ehlers-Danlos Syndrome: Detailed Observation of a Novel Case and Review of 2 Reported Cases.2020

    • Author(s)
      Uehara M, Oba H, Hatakenaka T, Ikegami S, Kuraishi S, Takizawa T, Munakata R, Mimura T, Yamaguchi T, Kosho T, Takahashi J.
    • Journal Title

      World Neurosurgery

      Volume: 143 Pages: 454-461

    • DOI

      10.1016/j.wneu.2020.08.085

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed
  • [Journal Article] The Ehlers-Danlos syndromes2020

    • Author(s)
      Malfait Fransiska、Castori Marco、Francomano Clair A.、Giunta Cecilia、Kosho Tomoki、Byers Peter H.
    • Journal Title

      Nature Reviews Disease Primers

      Volume: 6 Issue: 1 Pages: 64-64

    • DOI

      10.1038/s41572-020-0194-9

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Backcrossing to an appropriate genetic background improves the birth rate of carbohydrate sulfotransferase 14 gene-deleted mice2020

    • Author(s)
      SHIMADA Shin、YOSHIZAWA Takahiro、TAKAHASHI Yuki、NITAHARA-KASAHARA Yuko、OKADA Takashi、NOMURA Yoshihiro、YAMANAKA Hitoki、KOSHO Tomoki、MATSUMOTO Kiyoshi
    • Journal Title

      Experimental Animals

      Volume: 69 Issue: 4 Pages: 407-413

    • DOI

      10.1538/expanim.19-0150

    • NAID

      130007938664

    • ISSN
      0007-5124, 1341-1357, 1881-7122
    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Delineation of musculocontractural Ehlers?Danlos Syndrome caused by dermatan sulfate epimerase deficiency2020

    • Author(s)
      Lautrup Charlotte K.、Teik Keng W.、Unzaki Ai、Mizumoto Shuji、Syx Delfien、Sin Heng H.、Nielsen Irene K.、Markholt Sara、Yamada Shuhei、Malfait Fransiska、Matsumoto Naomichi、Miyake Noriko、Kosho Tomoki
    • Journal Title

      Molecular Genetics & Genomic Medicine

      Volume: 8 Issue: 5

    • DOI

      10.1002/mgg3.1197

    • Related Report
      2020 Annual Research Report 2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome2019

    • Author(s)
      Tomoki Kosho, Shuji Mizumoto, Takafumi Watanabe, Takahiro Yoshizawa, Noriko Miyake, Shuhei Yamada
    • Journal Title

      Genes

      Volume: 11 Issue: 1 Pages: 43-43

    • DOI

      10.3390/genes11010043

    • NAID

      120006901092

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] コンドロイチン/デルマタン硫酸の生合成不全による遺伝性の骨・皮膚疾患と肺がん転移の分子メカニズム2019

    • Author(s)
      水本秀二
    • Journal Title

      薬学雑誌

      Volume: 139 Pages: 1495-1500

    • NAID

      130007754062

    • Related Report
      2019 Annual Research Report
  • [Presentation] 疾患iPS細胞を用いた筋拘縮型エーラス・ダンロス症候群の疾患モデル構築と病態解析2022

    • Author(s)
      岳 鳳鳴
    • Organizer
      第21回日本再生医療学会総会
    • Related Report
      2021 Annual Research Report
  • [Presentation] 筋拘縮型エーラス・ダンロス症候群の疾患モデルマウス(Chst14-/-)の出生率に対するエンリッチメントの効果と繁殖用飼料の影響2022

    • Author(s)
      高橋有希、吉沢隆浩、嶋田新、古庄知己
    • Organizer
      信州実験動物研究会 第39回 研究発表会
    • Related Report
      2021 Annual Research Report
  • [Presentation] プロテオグリカン糖側鎖の生合成不全に起因する遺伝性の骨・関節・皮膚疾患2022

    • Author(s)
      水本秀二
    • Organizer
      名城大学総合研究所 難治性疾患発症メカニズム研究センター 第3回セミナー
    • Related Report
      2021 Annual Research Report
  • [Presentation] Biosynthesis of glycosaminoglycans and the related congenital disorders2022

    • Author(s)
      Shuhei Yamada
    • Organizer
      6th International Anatomical Sciences and Cell Biology Conference (IASCBC) (Singapore)
    • Related Report
      2021 Annual Research Report
  • [Presentation] 1歳齢の疾患モデルマウス(Chst14-/-)を用いた筋拘縮型エーラス・ダンロス症候群(mcEDS)の骨病変の解析2021

    • Author(s)
      高橋 有希、吉沢 隆浩、水本 秀二、山田 修平、古庄 知己
    • Organizer
      日本人類遺伝学会第66回大会
    • Related Report
      2021 Annual Research Report
  • [Presentation] 筋拘縮型エーラス・ダンロス症候群の疾患モデルマウス(Chst14-/-)の出生率に対するエンリッチメントの効果2021

    • Author(s)
      高橋 有希、吉沢 隆浩、嶋田 新、古庄 知己
    • Organizer
      第68回日本実験動物学会総会
    • Related Report
      2021 Annual Research Report
  • [Presentation] Chst14遺伝子欠損マウスを用いた筋拘縮型エーラスダンロス症候群の皮膚病態モデル2021

    • Author(s)
      吉沢 隆浩、嶋田 新、高橋 有希、岳 鳳鳴、山中 仁木、古庄 知己、松本 清司
    • Organizer
      第68回日本実験動物学会総会
    • Related Report
      2021 Annual Research Report
  • [Presentation] 疾患モデルマウスを用いた筋拘縮型エーラス・ダンロス症候群(mcEDS)の骨病変解析2021

    • Author(s)
      高橋有希、吉沢隆浩、水本秀二、山田修平、古庄知己
    • Organizer
      第2回日本エーラス・ダンロス研究会
    • Related Report
      2021 Annual Research Report
  • [Presentation] ナノ液体クロマトグラフィータンデム質量分析法を用いた細胞培養液中のI型コラーゲンa鎖(COL1A1)の定量2021

    • Author(s)
      Gong Ao、山田和夫、Jing Li、竹下治男、松本健一
    • Organizer
      第53回日本結合組織学会学術大会
    • Related Report
      2021 Annual Research Report
  • [Presentation] Measurement of collagen species in culture medium by nano-LC/MS/MS2021

    • Author(s)
      山田和夫、Gong Ao、竹下治男、松本健一
    • Organizer
      第94回日本生化学会大会
    • Related Report
      2021 Annual Research Report
  • [Presentation] Measurement of collagen species in LX-2 cell culture medium by nano-LC/MS/MS2021

    • Author(s)
      Ao Gong、Kazuo Yamada、Haruo Takeshita、Ken-ichi Matsumoto
    • Organizer
      第2回日本エーラス・ダンロス症候群研究会
    • Related Report
      2021 Annual Research Report
  • [Presentation] 糖鎖の生合成異常による遺伝性の骨・関節・皮膚疾患2021

    • Author(s)
      水本秀二
    • Organizer
      名城大学リサーチフェア2021 シンポジウム「難病の治療・予防を目指した病因・病態のメカニズム解明 ~難治性疾患発症メカニズム研究センターの活動~」
    • Related Report
      2021 Annual Research Report
  • [Presentation] Proteoglycan synthesis and EDS2021

    • Author(s)
      Tomoki Kosho
    • Organizer
      International research symposium: Connective Tissue, Immune System & Rare Ehlers Danlos Syndrome
    • Related Report
      2021 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] 筋拘縮型(古庄型)エーラス・ダンロス症候群の発見・病態解明2020

    • Author(s)
      古庄知己
    • Organizer
      第52回日本結合組織学会学術集会
    • Related Report
      2020 Annual Research Report
    • Invited
  • [Presentation] グリコサミノグリカンの生合成異常による遺伝性の骨・皮膚疾患2020

    • Author(s)
      水本秀二
    • Organizer
      第52回日本結合組織学術大会
    • Related Report
      2020 Annual Research Report
    • Invited
  • [Presentation] CRISPR/Cas9を用いて作成した筋拘縮型エーラス・ダンロス症候群モデルマウスの表現型2020

    • Author(s)
      笠原優子、積田奈々、水本秀二、井上(上野)由紀子、井上高良、髙橋(中村)有希、吉沢隆浩、髙橋有希、宮田真路、山田修平、武田伸一、渡邉淳、野村義宏、古庄知己、岡田尚巳
    • Organizer
      第1回日本エーラス・ダンロス研究
    • Related Report
      2020 Annual Research Report
  • [Presentation] 筋拘縮型エーラス・ダンロス症候群(mcEDS)の疾患モデルマウス(Chst14-/-)を用いた骨の表現型解析2020

    • Author(s)
      高橋有希、吉沢隆浩、水本秀二、山田修平、古庄知己
    • Organizer
      第1回日本エーラス・ダンロス研究
    • Related Report
      2020 Annual Research Report
  • [Presentation] コンドロイチン硫酸修飾デコリンを用いた筋拘縮型エーラス・ダンロス症候群の診断法の開発2020

    • Author(s)
      山田和夫、Gong Ao、古庄知己、水本秀二、山田修平、竹下治男、松本健一
    • Organizer
      第1回日本エーラス・ダンロス研究
    • Related Report
      2020 Annual Research Report
  • [Presentation] 筋拘縮型エーラス・ダンロス症候群(mcEDS)の皮膚症状の疾患モデルマウスの開発2020

    • Author(s)
      吉沢隆浩、高橋有希、岳鳳鳴、水本秀二、山田修平、古庄知己
    • Organizer
      第1回日本エーラス・ダンロス研究会
    • Related Report
      2020 Annual Research Report
  • [Presentation] 筋拘縮型エーラス・ダンロス症候群(mcEDS)の疾患モデルマウス (Chst14-/-) を用いた骨の表現型解析2020

    • Author(s)
      高橋有希、吉沢隆浩、水本秀二、山田修平、古庄知己
    • Organizer
      第52回日本結合組織学術大会
    • Related Report
      2020 Annual Research Report
  • [Presentation] コンドロイチン修飾デコリンを用いた筋拘縮型エーラス・ダンロス症候群の診断法の開発2020

    • Author(s)
      山田和夫、Ao Gong、古庄知己、水本秀二、山田修平、竹下治男、松本健一
    • Organizer
      第52回日本結合組織学術大会
    • Related Report
      2020 Annual Research Report
  • [Presentation] 3次元電子顕微鏡を用いたコラーゲン細線維を束ねるグリコサミノグリカン鎖の立体構造解析2020

    • Author(s)
      渡邉敬文、広瀬拓哉、亀谷清和、小山洋一、今村保忠、古庄知己
    • Organizer
      第93回日本生化学会大会
    • Related Report
      2020 Annual Research Report
  • [Presentation] 筋拘縮型エーラスダンロス症候群の疾患モデル動物としてのChst14遺伝子欠損マウスの解析2020

    • Author(s)
      吉沢隆浩、嶋田新、高橋有希、水本秀二、山田修平、山中仁木、古庄知己、松本清司
    • Organizer
      第67回日本実験動物学会総会
    • Related Report
      2020 Annual Research Report
  • [Presentation] デルマタン4-O-硫酸基転移酵素1欠損に基づくエーラスダンロス症候群(mcEDS-CHST14)の高度脊柱変形に対する後方矯正固定術を施行した1例2020

    • Author(s)
      上原将志、古庄知己、大場悠己、畠中輝枝、髙橋淳
    • Organizer
      第54回日本側彎症学会
    • Related Report
      2020 Annual Research Report
  • [Presentation] 疾患モデルマウス(Chst14-/-)を用いた筋拘縮型エーラス・ダンロス症候群(mcEDS)の骨病変の解析2020

    • Author(s)
      高橋有希、吉沢隆浩、水本秀二、山田修平、古庄知己
    • Organizer
      日本人類遺伝学会第65回大会
    • Related Report
      2020 Annual Research Report
  • [Presentation] 筋拘縮型エーラス・ダンロス症候群の発見、病態解明、そして治療法開発に向けた挑戦2020

    • Author(s)
      古庄知己
    • Organizer
      名城大学総合研究所難治性疾患発症メカニズム研究センター・第1回セミナー
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] Otological features in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in CHST14 (mcEDS-CHST14)2019

    • Author(s)
      Kosho, T, Kawakita M, Iwasaki S, Moteki H, Usami S.
    • Organizer
      American Society of Human Genetics, Annual Meeting 2019
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Clinical, biochemical, and pathological investigation of a patient with musculocontractural Ehlers-Danlos syndrome caused by a novel pathogenic variant in DSE2019

    • Author(s)
      Minatogawa M, Mizumoto S, Hirose T, Yamaguchi T, Wakui K, Watanabe T, Yamada S, Kosho T.
    • Organizer
      American Society of Human Genetics, Annual Meeting 2019
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Intranasal desmopressin treatment for massive subcutaneous hematoma in five patients with musculocontractural Ehlers-Danlos syndrome2019

    • Author(s)
      Kosho T, Fujita N, Ishikawa M, Kise E, Kojima T, Yamaguchi T, Minatogawa M, Nakamura K, Takano K.
    • Organizer
      European Human Genetics Conference 2019
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research
  • [Presentation] エーラスダンロス症候群をめぐる世界の動向2019

    • Author(s)
      古庄知己
    • Organizer
      日本エーラス・ダンロス症候群協会 医療講演会
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] プロテオグリカン糖側鎖の生合成不全に起因する遺伝性の骨・関節・皮膚・心臓・免疫・神経疾患2019

    • Author(s)
      水本秀二
    • Organizer
      第92回日本生化学会大会
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] Defects in biosynthesis of glycosaminoglycan side chains of proteoglycans cause hereditary bone, skin, heart, and immune disorders2019

    • Author(s)
      Mizumoto S
    • Organizer
      Proteoglycans Future Leaders Symposium 2019
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Proteoglycan defect-related EDS2019

    • Author(s)
      Mizumoto S
    • Organizer
      Scientific Meeting on The Rare Types of Ehlers-Danlos Syndromes
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Pathophysiological Inves-ga-on for Large Subcutaneous Hematomas of Ehlers-Danlos Syndrome Using Pa-ent Induced Pluripotent Stem Cells2019

    • Author(s)
      YUe F, Sasaki K, Yamaguchi T, Kosho T
    • Organizer
      Scientific Meeting on The Rare Types of Ehlers-Danlos Syndromes
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research
  • [Presentation] CRISPR/Cas9-mediated development and characterization of knockout mice for musculocontractural type Ehlers-Danlos Syndrome caused by mutations in CHST14 (mcEDS-CHST14).2019

    • Author(s)
      Nitahara-Kasahara Y, Tsumita N, Mizumoto S, Inoue Y, Inoue T, Yoshizawa T, Takahashi Y, Guillermo PH, Oda Y, Nakamura-Takahashi A, Hashimoto A, Nomura Y, Takeda S, Watanabe A, Kosho T, Okada T
    • Organizer
      Scientific Meeting on The Rare Types of Ehlers-Danlos Syndromes
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Skin and Vascular Abnormalities in Chst14 Gene-Deleted Mice, an Animal Model of Musculocontractual Ehlers-Danlos Syndrome2019

    • Author(s)
      Yoshizawa T, Mizumoto S, Takahashi Y, Shimada S, Sugahara K, Nakayama J, Takeda S, Nomura Y, Nitahara-Kasahara Y, Okada T, Matsumoto K, Yamada S, Kosho T
    • Organizer
      Scientific Meeting on The Rare Types of Ehlers-Danlos Syndromes
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Chst14遺伝子欠損マウスを用いた筋拘縮型エーラスダンロス症候群(mcEDS)の血管・皮膚症状の病態解析2019

    • Author(s)
      吉沢隆浩、嶋田新、高橋有希、水本秀二、山田修平、古庄知己
    • Organizer
      日本人類遺伝学会第64回大会
    • Related Report
      2019 Annual Research Report
  • [Book] 糖鎖生物学 (生命現象と糖鎖情報)2020

    • Author(s)
      水本秀二、山田修平
    • Total Pages
      306
    • Publisher
      名古屋大学出版会
    • Related Report
      2019 Annual Research Report
  • [Remarks] 信州大学医学部遺伝医学教室、医学部附属病院遺伝子医療研究センター

    • URL

      http://www.shinshu-u.ac.jp/faculty/medicine/chair/PM/

    • Related Report
      2019 Annual Research Report

URL: 

Published: 2019-04-18   Modified: 2023-01-30  

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