Kosho Tomoki 古庄知己

… Alternative Names

KOSHO Tomoki 古庄知己

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Researcher Number	90276311
Other IDs
External Links
Affiliation (Current)	2026: 信州大学, 学術研究院医学系, 教授
Affiliation (based on the past Project Information) *help	2026: 信州大学, 学術研究院医学系, 教授 2018 – 2024: 信州大学, 学術研究院医学系, 教授 2018: 信州大学, 医学部・遺伝医学, 教授 2017: 信州大学, 医学部附属病院, 准教授 2014 – 2016: 信州大学, 学術研究院医学系(医学部附属病院), 准教授 … More 2015: 信州大学, 医学部附属病院, 准教授 2013: 信州大学, 医学部附属病院, 准教授 2012: 信州大学, 医学部附属病院, 講師 2010: 信州大学, 医学部, 講師 2008: 信州大学, 医学部・附属病院, 講師 2008: 信州大学, 医学部附属病院, 講師 2007: 信州大学, 医学部, 助教 2007: Shinshu University, 医学部附属病院, 助教 2006: 信州大学, 医学部, 助手 2003 – 2006: Shinshu Univ. Hospital, Assistant Professor, 医学部附属病院, 助手 Less
Review Section/Research Field	Principal Investigator Embryonic/Neonatal medicine / Basic Section 52050:Embryonic medicine and pediatrics-related / Human genetics Except Principal Investigator Biological pharmacy / Basic Section 53050:Dermatology-related / Basic Section 52050:Embryonic medicine and pediatrics-related / Human genetics / Medium-sized Section 56:Surgery related to the biological and sensory functions and related fields / Basic Section 56020:Orthopedics-related / Human genetics / Pediatrics / 医療における生命倫理
Keywords	Principal Investigator 健康管理指針 / 自然歴 / 18トリソミー / 包括的病態解析 / iPS細胞 / マウスモデル / デルマタン硫酸 / 筋拘縮型エーラス・ダンロス症候群 / 国際情報交換 / 全エクソーム解析 … More / 候補遺伝子解析 / 次世代シーケンス / 結合組織疾患 / 新規病型 / エーラスダンロス症候群 … More Except Principal Investigator エーラス・ダンロス症候群 / デルマタン硫酸 / マイクロアレイ染色体検査 / プロテオグリカン / コンドロイチン硫酸 / エーラスダンロス症候群 / Chst14遺伝子欠損マウス / 筋拘縮型エーラス・ダンロス症候群(mcEDS) / 筋拘縮型エーラス・ダンロス症候群 / 疾患モデル動物 / 次世代シークエンス解析 / 神経発達症 / てんかん / DBCRs / FISH / fluorescence in situ hybridization / Mendelian Cytogenetics / 知的障害 / グリコサミノグリカン / 遺伝カウンセリング / 慢性疼痛 / 自己抗体 / 傍脊柱筋 / 脊柱変形 / 創傷治癒 / 網羅的DNAメチル化解析 / episignature解析 / 知的発達症 / ヒストンリジンメチル化 / 皮膚病変 / 筋拘縮型エーラスダンロス症候群(mcEDS) / Chst14 / 遺伝性骨・皮膚疾患 / ゴルジ体 / ゴルジン / 皮膚弛緩症 / 骨系統疾患 / 脊椎肋骨異骨症 / 結合組織疾患 / LFNG / 免疫不全症 / 骨異形成性老人性皮膚症 / 脊椎骨端骨幹端異形成症 / GORAB / Golgin / 次世代シークエンス / マイクロアレイ染色体解析 / 疾患関連遺伝子カスタムパネル解析 / 遺伝的要因 / 自閉スペクトラム症 / エピジェネティック / 1細胞解析 / X染色体不活化 / エピジェネティクス / RNA-FISH / 相同染色体 / １細胞解析 / 糖尿病 / 老化 / 骨・皮膚疾患 / ヘパラン硫酸 / アルツハイマー病 / 癌 / RAGE / balanced translocation / chromosome rearrangement / chromosome abnormality / positional cloning / BAC / YAC / ボジショナルクローニング / BACクローン / 思春期早発症 / 染色体構造異常 / FISH解析 / 特発性思春期早発症 / 染色体均衡型構造異常 / 相互転座 / 均衡型構造異常 / 染色体異常 / ポジショナルクローニング / パネル解析 / 知的障害原因 / 臨床エクソーム解析 / エクソーム解析 / 疾患パネル解析 / 次世代シークエンサー / ニュージーランド / ドイツ / 変形性関節症 / 遺伝病 / 骨形成 / ダンロス症候群/糖転移酵素/硫酸基転移酵素 / 皮膚/遺伝病/脊椎骨端異形成症/ エーラス / コンドロイチン硫酸/デルマタン硫酸/骨 / 皮膚 / 変異解析 / 先天性結合織疾患 / 連鎖解析 / 単一遺伝子疾患 / 分子遺伝学 / ELSI / 遺伝情報 / ガイドライン / 遺伝子診療 Less

Elucidation of a Novel Autoantibody-Mediated Pain Mechanism in Ehlers–Danlos Syndrome and Development of Immunotherapeutic Strategies
- Principal Investigator
  
  芦高恵美子
- Project Period (FY)
  2026 – 2028
- Research Category
  
  Grant-in-Aid for Challenging Research (Exploratory)
- Review Section
  
  Medium-sized Section 56:Surgery related to the biological and sensory functions and related fields
- Research Institution
  Osaka Institute of Technology
遺伝性結合組織疾患の脊柱変形進行における傍脊柱筋の影響
- Principal Investigator
  
  上原将志
- Project Period (FY)
  2024 – 2027
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 56020:Orthopedics-related
- Research Institution
  Shinshu University
筋拘縮型エーラス・ダンロス症候群の創傷治癒過程におけるデルマタン硫酸の役割
- Principal Investigator
  
  吉沢隆浩
- Project Period (FY)
  2023 – 2026
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 53050:Dermatology-related
- Research Institution
  Shinshu University
知的発達症におけるヒストンリジンメチル化の役割の解明
- Principal Investigator
  
  高野亨子
- Project Period (FY)
  2022 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Shinshu University
Development and analysis of an animal model of Musculocontractral Ehlers-Danlos syndrome
- Principal Investigator
  
  Yoshizawa Takahiro
- Project Period (FY)
  2019 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 53050:Dermatology-related
- Research Institution
  Shinshu University
Integrated understanding of dermatan sulfate through uncovering pathophysiology of musculocontractural Ehlers-Danlos syndromePrincipal Investigator
- Principal Investigator
  
  Kosho Tomoki
- Project Period (FY)
  2019 – 2021
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Shinshu University
Genetic evaluation of patients with neurodevelopmental disorders
- Principal Investigator
  
  Takano Kyoko
- Project Period (FY)
  2018 – 2023
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Shinshu University
Mechanism of biosynthesis of glycosaminoglycan by Golgin, and its hereditary bone and skin disorders
- Principal Investigator
  
  Mizumoto Shuji
- Project Period (FY)
  2016 – 2018
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Biological pharmacy
- Research Institution
  Meijo University
Research for single cell expression analysis and epigenetic mechanism using RNA-FISH analyses
- Principal Investigator
  
  Wakui Keiko
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Human genetics
- Research Institution
  Shinshu University
Genetic evaluation of patients with intellectual disability using chromosomal microarray and next-generation sequencing
- Principal Investigator
  
  TAKANO Kyoko
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Shinshu University
Clinical and molecular investigation for new forms of Ehlers-Danlos syndromePrincipal Investigator
- Principal Investigator
  
  KOSHO Tomoki
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Human genetics
- Research Institution
  Shinshu University
Roles of chondroitin sulfate interacting with RAGE involved in tumor and Alzheimer's disease
- Principal Investigator
  
  Shiji Mizumoto
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Biological pharmacy
- Research Institution
  Meijo University
Pathogenic mechanisms of the bone diseases caused by defect in chondroitin sulfate biosynthesis
- Principal Investigator
  
  MIZUMOTO Shuji
- Project Period (FY)
  2011 – 2012
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Biological pharmacy
- Research Institution
  Hokkaido University
Disease gene identification of a new type of Ehlers-Danlos syndrome
- Principal Investigator
  
  MIYAKE Noriko
- Project Period (FY)
  2009 – 2010
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Human genetics
- Research Institution
  Yokohama City University
Establishment of Ethics Guideline in Medical Genetics
- Principal Investigator
  
  FUKUSHIMA Yoshimitsu
- Project Period (FY)
  2006 – 2008
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  医療における生命倫理
- Research Institution
  Shinshu University
18トリソミー症候群における自然歴及び健康管理指針の構築Principal Investigator
- Principal Investigator
  
  古庄知己
- Project Period (FY)
  2006 – 2007
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Embryonic/Neonatal medicine
- Research Institution
  Shinshu University
18トリソミー症候群における自然歴及び健康管理指針の構築Principal Investigator
- Principal Investigator
  
  古庄知己
- Project Period (FY)
  2004 – 2005
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Embryonic/Neonatal medicine
- Research Institution
  Shinshu University
Registration of disease-associated balanced chromosome rearrangements (DBCRs) and FISH analyses of the breakpoints for positional cloning strategy.
- Principal Investigator
  
  FUKUSHIMA Yoshimitsu
- Project Period (FY)
  2000 – 2003
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Human genetics
- Research Institution
  Shinshu University

[Book] 18トリソミー～子どもへのよりよい医療と家族支援をめざして～2014
- Author(s)
  櫻井浩子，橋本洋子，古庄知己
- Total Pages
  218
- Publisher
  メディカ出版
- Data Source
  KAKENHI-PROJECT-25460405
[Book] Carbohydrate (N-acetyl-D-galactosamine 4-O) sulfotransferase 14 (CHST14) In Handbook of Glycosyltransferases and Related Gene2014
- Author(s)
  Tomoki Kosho, Shuji Mizumoto, Kazuyuki Sugahara
- Publisher
  Springer
- Data Source
  KAKENHI-PROJECT-25860037
[Book] Handbook of glycosyltransferases and related genes2014
- Author(s)
  Kosho T, Mizumoto S, Sugahara K
- Total Pages
  1707
- Publisher
  Springer
- Data Source
  KAKENHI-PROJECT-25460405
[Book] 最新医学別冊　新しい診断と治療のABC(42)　大動脈瘤・大動脈解離2013
- Author(s)
  古庄知己
- Total Pages
  274
- Publisher
  最新医学社
- Data Source
  KAKENHI-PROJECT-25460405
[Book] Current Genetics in Dermatology2013
- Author(s)
  kosho T
- Total Pages
  158
- Publisher
  InTech
- Data Source
  KAKENHI-PROJECT-25460405
[Book] 小児科学第3版, 13/18トリソミー症候群2008
- Author(s)
  古庄知己
- Total Pages
  2
- Publisher
  医学書院
- Data Source
  KAKENHI-PROJECT-18790758
[Book] 小児科学第3版, Down症候群2008
- Author(s)
  古庄知己
- Total Pages
  6
- Publisher
  医学書院
- Data Source
  KAKENHI-PROJECT-18790758
[Book] 小児科学第3版, 糖代謝異常2008
- Author(s)
  古庄知己
- Total Pages
  2
- Publisher
  医学書院
- Data Source
  KAKENHI-PROJECT-18790758
[Book] 小児科学第3版, 主な染色体異常症2008
- Author(s)
  古庄知己
- Total Pages
  5
- Publisher
  医学書院
- Data Source
  KAKENHI-PROJECT-18790758
[Book] 小児科学第3版, Lowe症候群2008
- Author(s)
  古庄知己
- Total Pages
  2
- Publisher
  医学書院
- Data Source
  KAKENHI-PROJECT-18790758
[Book] 小児科学第3版, カルシウム, リン, マグネジウム代謝異常2008
- Author(s)
  古庄知己
- Total Pages
  2
- Publisher
  医学書院
- Data Source
  KAKENHI-PROJECT-18790758
[Book] 小児科学第3版, Na/K代謝異常2008
- Author(s)
  古庄知己
- Total Pages
  2
- Publisher
  医学書院
- Data Source
  KAKENHI-PROJECT-18790758
[Book] 小児科学第3版, 新生児高アンモニア血症2008
- Author(s)
  古庄知己
- Total Pages
  3
- Publisher
  医学書院
- Data Source
  KAKENHI-PROJECT-18790758
[Book] 染色体異常(遺伝医療と倫理・法・社会)2006
- Author(s)
  古庄知己 (福嶋義光監修, 玉井真理子編集)
- Publisher
  株式会社メディカルドウ
- Data Source
  KAKENHI-PROJECT-18790758
[Book] ダウン症以外の常染色体異常(今日の小児治療指針第14版)2006
- Author(s)
  古庄知己 (大関武彦, 古川漸, 横田俊一郎編集)
- Total Pages
  1
- Publisher
  医学書院
- Data Source
  KAKENHI-PROJECT-18790758
[Journal Article] Carbohydrate sulfotransferase 14 gene deletion induces dermatan sulfate deficiency and affects collagen structure and bowel contraction2025
- Author(s)
  Ono Fumiko、Takahashi Yuki、Shimada Shin、Mizumoto Shuji、Miyata Shinji、Nitahara-Kasahara Yuko、Yamada Shuhei、Okada Takashi、Kosho Tomoki、Yoshizawa Takahiro
- Journal Title
  
  PLOS One
  
  Volume: 20 Issue: 5 Pages: e0320943-e0320943
- DOI
  10.1371/journal.pone.0320943
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-23K07780
[Journal Article] Collagen Network Formation in In Vitro Models of Musculocontractural Ehlers Danlos Syndrome2023
- Author(s)
  Ayana Hashimoto, Takuya Hirose, Kohei Hashimoto, Shuji Mizumoto, Yuko Nitahara-Kasahara, Shota Saka, Takahiro Yoshizawa, Takashi Okada, Shuhei Yamada, Tomoki Kosh, Takafumi Watanabe, Shinji Miyata, and Yoshihiro Nomura
- Journal Title
  
  Genes
  
  Volume: 14 Issue: 2 Pages: 308-308
- DOI
  10.3390/genes14020308
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K05508, KAKENHI-PROJECT-19K08745, KAKENHI-PROJECT-22K06921
[Journal Article] Mouse Models of Musculocontractural Ehlers-Danlos Syndrome2023
- Author(s)
  Takahiro Yoshizawa, Tomoki Kosho
- Journal Title
  
  Genes
  
  Volume: 14(2) Issue: 2 Pages: 436-436
- DOI
  10.3390/genes14020436
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08745
[Journal Article] Analysis of genotype-phenotype correlation in patients with the prevalent pathogenic SCN2A variant (c.781G>A) : A familial case report and literature review2022
- Author(s)
 増田智幸、古庄知己、稲葉雄二、本林光雄、田中章太、齊藤真規、武田良淳、小田新、山口智美、髙野亨子、廣間武彦
- Journal Title
 
 NO TO HATTATSU
 
 Volume: 54 Issue: 5 Pages: 338-342
- DOI
 10.11251/ojjscn.54.338
- ISSN
 0029-0831, 1884-7668
- Language
 Japanese
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-18K07815
[Journal Article] Clinical and molecular features of 66 patients with musculocontractural Ehlers?Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)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
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
 KAKENHI-PROJECT-19H03616, KAKENHI-PROJECT-19K08535, KAKENHI-PROJECT-23K21501
[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
- Data Source
  KAKENHI-PROJECT-19H03616
[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
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K07054, KAKENHI-PUBLICLY-19H04922, KAKENHI-PROJECT-19H03616, KAKENHI-PROJECT-20K06467
[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
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K07054, KAKENHI-PUBLICLY-19H04922, KAKENHI-PROJECT-19H03616, KAKENHI-PROJECT-19K08745, KAKENHI-PROJECT-20K06467
[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
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K07054, KAKENHI-PROJECT-19K08745, KAKENHI-PROJECT-19H03616
[Journal Article] Backcrossing to an Appropriate Genetic Background Improves the Birth Rate of Carbohydrate Sulfotransferase 14 Gene-deleted Mice2020
- Author(s)
  Shin Shimada, Takahiro Yoshizawa, Yuki Takahashi, Yuko Nitahara-Kasahara, Takashi Okada, Yoshihiro Nomura, Hitoki Yamanaka, Tomoki Kosho, Kiyoshi Matsumoto
- Journal Title
  
  Experimental Animals
  
  Volume: -
- NAID
  130007938664
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08745
[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
  
  Exp. Anim.
  
  Volume: 69 Issue: 4 Pages: 407-413
- DOI
  10.1538/expanim.19-0150
- NAID
  130007938664
- ISSN
  0007-5124, 1341-1357, 1881-7122
- Language
  English
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08745, KAKENHI-PROJECT-19H03616, KAKENHI-PROJECT-18K06019
[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
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K18532, KAKENHI-PROJECT-19H03616
[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
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03616, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-19K07054
[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
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03616
[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
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K07054, KAKENHI-PROJECT-19K08745, KAKENHI-PROJECT-19H03616, KAKENHI-PROJECT-16K19396
[Journal Article] Structural alteration of glycosaminoglycan side chains and spatial disorganization of collagen networks in the skin of patients with mcEDS-CHST142019
- Author(s)
  Takuya Hirose, Naoki Takahashi, Prasarn Tangkawattana, Jun Minaguchi, Shuji Mizumoto, Shuhei Yamada, Noriko Miyake, Shujiro Hayashi, Atsushi Hatamochi, Jun Nakayama, Tomomi Yamaguchi, Ayana Hashimoto, Yoshihiro Nomura, Kazushige Takehana, Tomoki Kosho, and Takafumi Watanabe
- Journal Title
  
  Biochimica et Biophysica Acta (BBA) - General Subjects
  
  Volume: 1863 Issue: 3 Pages: 623-631
- DOI
  10.1016/j.bbagen.2018.12.006
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K08251
[Journal Article] Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency2018
- Author(s)
  Shuji Mizumoto, Tomoki Kosho, Atsushi Hatamochi, Tomoko Honda, Tomomi Yamaguchi, Nobuhiko Okamoto, Noriko Miyake, Shuhei Yamada, and Kazuyuki Sugahara
- Journal Title
  
  Clinical Biochemistry
  
  Volume: 50 Issue: 12 Pages: 670-677
- DOI
  10.1016/j.clinbiochem.2017.02.018
- NAID
  120006398760
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K08251, KAKENHI-PROJECT-15K07951
[Journal Article] Vascular abnormalities in the placenta of Chst14-/- fetuses: implications in the pathophysiology of perinatal lethality of the murine model and vascular lesions in human CHST14/D4ST1 deficiency2018
- Author(s)
  Takahiro Yoshizawa, Shuji Mizumoto, Yuki Takahashi, Shin Shimada, Kazuyuki Sugahara, Jun Nakayama, Shin’ichi Takeda, Yoshihiro Nomura, Yuko Nitahara-Kasahara, Takashi Okada, Kiyoshi Matsumoto, Shuhei Yamada, and Tomoki Kosho
- Journal Title
  
  Glycobiology
  
  Volume: 28 Issue: 2 Pages: 80-89
- DOI
  10.1093/glycob/cwx099
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K08251, KAKENHI-PROJECT-16K19396, KAKENHI-PROJECT-15K07951
[Journal Article] Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders2017
- Author(s)
  Shuji Mizumoto, Tomoki Kosho, Shuhei Yamada, Kazuyuki Sugahara
- Journal Title
  
  Pharmaceuticals
  
  Volume: 10 Issue: 2 Pages: 34-34
- DOI
  10.3390/ph10020034
- NAID
  120006335578
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-16K08251
[Journal Article] CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.2016
- Author(s)
  Kosho T.
- Journal Title
  
  Pediatr Int.
  
  Volume: 58(2) Issue: 2 Pages: 88-99
- DOI
  10.1111/ped.12878
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25460405
[Journal Article] Dermatan 4-O-sulfotransferase 1-deficient Ehlers-Danlos syndrome complicated by a large subcutaneous hematoma on the back.2016
- Author(s)
  Mochida K, Amano M, Miyake N, Matsumoto N, Hatamochi A, Kosho T.
- Journal Title
  
  J Dermatol.
  
  Volume: Epub ahead of print Issue: 7 Pages: 1-2
- DOI
  10.1111/1346-8138.13273
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25460405, KAKENHI-PROJECT-25461675, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
[Journal Article] Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.2016
- Author(s)
  Takano K, Shiba N, Wakui K, Yamaguchi T, Aida N, Inaba Y, Fukushima Y, Kosho T.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 170 Issue: 2 Pages: 322-328
- DOI
  10.1002/ajmg.a.37432
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-26461522
[Journal Article] A 45-year-old woman with Ehlers-Danlos syndrome caused by dermatan 4-O-sulfotransferase-1 deficiency: implications of dermatan sulfate depletion on early aging.2016
- Author(s)
  Kono M, Hasegawa-Murakami Y, Sugiura K, Ono M, Toriyama K, Miyake N, Hatamochi A, Kamei Y, Kosho T, Akiyama M.
- Journal Title
  
  Acta Derm Venereol.
  
  Volume: - Pages: 1-2
- DOI
  10.2340/00015555-2390
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-24591646, KAKENHI-PROJECT-25460405, KAKENHI-PROJECT-25461675, KAKENHI-PROJECT-15K15414, KAKENHI-PROJECT-16K15546, KAKENHI-PROJECT-15H04886
[Journal Article] Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndrome.2015
- Author(s)
  Akazawa Y, Inaba Y, Hachiya A, Motoki N, Matsuzaki S, Minatoya K, Morisaki T, Morisaki H, Kosaki K, Kosho T, Koike K.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 167A(10) Issue: 10 Pages: 2435-2439
- DOI
  10.1002/ajmg.a.37202
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25460405
[Journal Article] Renal complications in 6p duplication syndrome: microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS).2015
- Author(s)
  Yoshimura-Furuhata M, Nishimura-Tadaki A, Amano Y, Ehara T, Hamasaki Y, Muramatsu M, Shishido S, Aikawa A, Hamada R, Ishikura K, Hataya H, Hidaka Y, Noda S, Koike K, Wakui K, Fukushima Y, Matsumoto N, Awazu M, Miyake N, Kosho T.
- Journal Title
  
  Am J Med Genet A
  
  Volume: 167 Issue: 3 Pages: 592-601
- DOI
  10.1002/ajmg.a.36942
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-24591610, KAKENHI-PROJECT-25460405, KAKENHI-PROJECT-26461620, KAKENHI-PLANNED-24118007
[Journal Article] Aggressive change of a carotid-cavernous fistula in a patient with Ehlers-Danlos syndrome type IV.2015
- Author(s)
  Kojima A, Saga I, Tomio R, Kosho T, Hatamochi A.
- Journal Title
  
  Interv Neuroradiol.
  
  Volume: 21(3) Issue: 3 Pages: 341-345
- DOI
  10.1177/1591019915582380
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25460405, KAKENHI-PROJECT-25461675
[Journal Article] Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.2014
- Author(s)
  Kosho T, Miyake N, Carey JC.
- Journal Title
  
  Am J Med Genet C Semin Med Genet.
  
  Volume: 166C Issue: 3 Pages: 241-51
- DOI
  10.1002/ajmg.c.31415
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25460405
[Journal Article] Surgical intervention for esophageal atresia in patients with trisomy 18.2014
- Author(s)
  Nishi E, Takamizawa S, Iio K, Yamada Y, Yoshizawa K, Hatata T, Hiroma T, Mizuno S, Kawame H, Fukushima Y, Nakamura T, Kosho T.
- Journal Title
  
  Am J Med Genet A
  
  Volume: 164A Issue: 2 Pages: 324-330
- DOI
  10.1002/ajmg.a.36294
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25460405
[Journal Article] 信州大学医学部附属病院遺伝子診療部の取り組み～小児科出身の臨床遺伝科医として思うこと2014
- Author(s)
  古庄知己
- Journal Title
  
  日本遺伝カウンセリング学会誌
  
  Volume: 35 Pages: 15-26
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25460405
[Journal Article] Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.2014
- Author(s)
  Kosho T, Okamoto N; Coffin-Siris Syndrome International Collaborators.
- Journal Title
  
  Am J Med Genet C Semin Med Genet
  
  Volume: 166C Issue: 3 Pages: 262-275
- DOI
  10.1002/ajmg.c.31407
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25460405
[Journal Article] Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.2014
- Author(s)
  Narumi Y, Nishina S, Tokimitsu M, Aoki Y, Kosaki R, Wakui K, Azuma N, Murata T, Takada F, Fukushima Y, Kosho T.
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 9999 Issue: 5 Pages: 1-5
- DOI
  10.1002/ajmg.a.36433
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791844, KAKENHI-PROJECT-25460405, KAKENHI-PROJECT-25462767
[Journal Article] 遺伝子医療の現状　包括的遺伝子医療の実態　信州大学医学部附属病院遺伝子診療部の取組み2014
- Author(s)
  古庄知己
- Journal Title
  
  医学のあゆみ増刊号「遺伝子医療の現状とゲノム医療の近未来」
  
  Volume: 250 Pages: 343-348
- Data Source
  KAKENHI-PROJECT-25460405
[Journal Article] Ehlers-danlos syndrome associated with glycosaminoglycan abnormalities2014
- Author(s)
  Miyake N, Kosho T, Matsumoto N
- Journal Title
  
  Adv Exp Med Biol
  
  Volume: 802 Pages: 145-159
- DOI
  10.1007/978-94-007-7893-1_10
- ISBN
  9789400778924, 9789400778931
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25460405
[Journal Article] 安心して出産し、子育てできる地域社会をめざして～新型出生前診断時代の一考察～2014
- Author(s)
  古庄知己
- Journal Title
  
  松本市医師会報
  
  Volume: 559 Pages: 4-11
- Data Source
  KAKENHI-PROJECT-25460405
[Journal Article] デルマタン4-O-硫酸基転移酵素-1欠損に基づく新型エーラスダンロス症候群の発見と疾患概念の確立2013
- Author(s)
  古庄知己
- Journal Title
  
  日本遺伝カウンセリング学会誌
  
  Volume: 34 Pages: 21-29
- NAID
  130004551825
- Data Source
  KAKENHI-PROJECT-25460405
[Journal Article] グリコサミノグリカンの異常と新型Ehlers-Danlos症候群（古庄型）2013
- Author(s)
  古庄知己
- Journal Title
  
  病理と臨床
  
  Volume: 31 Pages: 852-860
- Data Source
  KAKENHI-PROJECT-25460405
[Journal Article] Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome.2013
- Author(s)
  Shimizu K, Wakui K, Kosho T, Okamoto N, Mizuno S, Itomi K, Hattori S, Nishio K, Samura O, Kobayashi Y, Kako Y, Arai T, Oh-Ishi T, Kawame H, Narumi Y, Ohashi H, Fukushima Y
- Journal Title
  
  American Journal of Medical Genetics, Part A
  
  Volume: 164A Issue: 3 Pages: 597-609
- DOI
  10.1002/ajmg.a.36308
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23613004, KAKENHI-PROJECT-25460405
[Journal Article] A New Ehlers-Danlos syndrome with Craniofacial characteristics, congenital mltiple contractures, and progressive joint and skin laxity and multisystem fragility-related manifestations.2010
- Author(s)
  Kosho T, Miyake N, Hatamochi A, Takahashi J, Kato H, Miyahara T, Igawa Y, Yasui H, Ishida T, Ono K, Kosuda T, Inoue A, Kohyama M, Hattori T, Ohashi H, Nishimura G, Kawanura R, Wakui K, Fuushima Y, Matsumoto N.
- Journal Title
  
  American Journal of Medical Genetics A (in press)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790341
[Journal Article] A New Ehlers-Danlos Syndrome With Craniofacial Characteristics, Congenital Multiple Contractures, and Progressive Joint and Skin Laxity and Multisystem Fragility related Manifestations.2010
- Author(s)
  Kosho T, Miyake N, Hatamochi A, Takahashi J, Kato H, Miyahara T, Igawa Y, Yasui H, Ishida T, Ono K, Kosuda T, Inoue A, Kohyama M, Hattori T, Ohashi H, Nishimura G, Kawamura R, Wakui K, Fukushima Y, Matsumoto N.
- Journal Title
  
  American Journal of Medical Genetics A (152)
  
  Pages: 1333-1346
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790341
[Journal Article] Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.2010
- Author(s)
  Miyake N, Kosho T, Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y, Arai E, Takahashi K, Kawamura R, Wakui K, Takahashi J, Kato H, Yasui H, Ishida T, Ohashi H, Nishimura G, Shiina M, Saitsu H, Tsurusaki Y, Doi H, Fukushima Y, Ikegawa S, Yamada S, Sugahara K, Matsumoto N.
- Journal Title
  
  Human Mutation (8)
  
  Pages: 966-974
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790341
[Journal Article] A New Ehlers-Danlos Syndrome With Craniofacial Characteristics, Congenital Multiple Contractures, and Progressive Joint and Skin Laxity and Multisystem Fragilityrelated Manifestations2010
- Author(s)
  Kosho T, Miyake N, et al.
- Journal Title
  
  American Journal of Human Genetics A
  
  Volume: 152 Pages: 1333-1346
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790341
[Journal Article] Care of children with trisomy 18 in Japan2008
- Author(s)
  KoSho, et. al.
- Journal Title
  
  Am J Med Genet A 146
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18790758
[Journal Article] Mandibuloacral Dysplasia and a Novel LMNA Mutation in a Womanith Severe Progressive Skeletal Changes2007
- Author(s)
  KoSho, et. al.
- Journal Title
  
  Am J Med Genet A 143
  
  Pages: 2598-2603
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18790758
[Journal Article] 小児科診療における遺伝カウンセリング2007
- Author(s)
  古庄知己, 福嶋義光
- Journal Title
  
  長野県小児科医会会報 45
  
  Pages: 16-22
- Data Source
  KAKENHI-PROJECT-18790758
[Journal Article] De novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty,moderate mental retardation,and severe speech impairment2007
- Author(s)
  KoSho, et. al.
- Journal Title
  
  Clin Dysmorphol 17
  
  Pages: 31-34
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18790758
[Journal Article] 日本における18トリソミーの予後2007
- Author(s)
  古庄知己
- Journal Title
  
  日本未熟児新生児学会雑誌 19
  
  Pages: 38-42
- NAID
  10019538156
- Data Source
  KAKENHI-PROJECT-18790758
[Journal Article] 先天異常2007
- Author(s)
  古庄知己
- Journal Title
  
  周産期医学 37
  
  Pages: 91-96
- Data Source
  KAKENHI-PROJECT-18790758
[Journal Article] 遺伝子診療部の活動と最近のトピック2007
- Author(s)
  古庄知己, 福嶋義光
- Journal Title
  
  長野医報 540
  
  Pages: 27-31
- NAID
  130004551693
- Data Source
  KAKENHI-PROJECT-18790758
[Journal Article] Neonatal Management of Trisomy 18 : Clinical Details of 24 Patients Receiving Intensive Treatment2006
- Author(s)
  Kosho et al.
- Journal Title
  
  American Journal of Medical Genetics 140A
  
  Pages: 937-944
- Data Source
  KAKENHI-PROJECT-18790758
[Journal Article] 遺伝カウンセリング2006
- Author(s)
  古庄知己
- Journal Title
  
  周産期医学 36
  
  Pages: 870-871
- Data Source
  KAKENHI-PROJECT-18790758
[Journal Article] Neonatal Management of Trisomy 18: Clinical Details of 24 Patients Receiving Intensive Treatment2006
- Author(s)
  Kosho et al.
- Journal Title
  
  American Journal of Medical Genetics 未
- Data Source
  KAKENHI-PROJECT-16790607
[Journal Article] 奇形・染色体異常の遺伝カウンセリング2006
- Author(s)
  古庄知己
- Journal Title
  
  小児の治療指針 (小児科診療増刊号) 69 supple
  
  Pages: 887-890
- Data Source
  KAKENHI-PROJECT-18790758
[Journal Article] Neonatal management of trisomy 18 : Clinical details of 24 patients receiving intensive treatment.2006
- Author(s)
  Kosho T, Nakamura T, Kawame H, Baba A, Tamura M, Fukushima Y
- Journal Title
  
  Am J Med Genet 140A
  
  Pages: 937-944
- Data Source
  KAKENHI-PROJECT-18612003
[Journal Article] 常染色体異常症2006
- Author(s)
  古庄知己
- Journal Title
  
  周産期医学 36
  
  Pages: 446-450
- Data Source
  KAKENHI-PROJECT-18790758
[Journal Article] 遺伝カウンセリングとその基本的事項2005
- Author(s)
  古庄知己, 福嶋義光
- Journal Title
  
  小児科 46
  
  Pages: 909-915
- Data Source
  KAKENHI-PROJECT-16790607
[Journal Article] 染色体異常児のフォローアップ2005
- Author(s)
  古庄知己
- Journal Title
  
  周産期医学 35
  
  Pages: 529-534
- Data Source
  KAKENHI-PROJECT-16790607
[Journal Article] 遺伝カウンセリングケースレポート2005
- Author(s)
  古庄知己
- Journal Title
  
  小児科診療 68
  
  Pages: 950-952
- Data Source
  KAKENHI-PROJECT-16790607
[Journal Article] 自然歴情報の収集と健康管理プログラムの運用2004
- Author(s)
  古庄知己
- Journal Title
  
  小児科診療 67
  
  Pages: 221-227
- Data Source
  KAKENHI-PROJECT-16790607
[Journal Article] 遺伝カウンセリングって何2004
- Author(s)
  古庄知己, 福嶋義光
- Journal Title
  
  母子保健 542
  
  Pages: 7-7
- Data Source
  KAKENHI-PROJECT-16790607
[Journal Article] Delineation of Dermatan 4-O-sulfotransferase 1 Deficient Ehlers-Danlos Syndrome : Observation of Two Additional Patients and Comprehensive Review of 20 Reported Patients.
- Author(s)
  Shimizu K, Okamoto N, Miyake N, Taira K, Sato Y, Matsuda K, Akimaru N, Ohashi H, Wakui K, Fukushima Y, Matsumoto N, Kosho T.
- Journal Title
  
  American Journal of Medical Genetics A (in press)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790341
[Presentation] Investigation on the pathogenesis of spinal deformity using a mouse model of musculocontractural Ehlers-Danlos syndrome.2024
- Author(s)
  Uehara M, Takahashi Y, Yoshizawa T, Takahashi J, Kosho T.
- Organizer
  50th ISSLS Annual Scientific Meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-24K12369
[Presentation] 筋拘縮型エーラス・ダンロス症候群に伴う脊柱変形における傍脊柱筋の変化2024
- Author(s)
  上原将志、髙橋淳、古庄知己
- Organizer
  第5回日本エーラス・ダンロス研究会
- Data Source
  KAKENHI-PROJECT-24K12369
[Presentation] Clinical and genetic evaluation of individuals with neurodevelopmental disorders: 10-years experiences of "ID clinic"2024
- Author(s)
  Kyoko Takano, Keiko Wakui, Motoko Kamiya, Tomomi Yamaguchi, Ryojun Takeda, Kumiko Yanagi, Tadashi Kaname, Tomoki Kosho
- Organizer
  日本人類遺伝学会第69回大会
- Data Source
  KAKENHI-PROJECT-22K07934
[Presentation] 筋拘縮型エーラス・ダンロス症候群モデルマウスを用いた脊柱変形の発症機序の検討2024
- Author(s)
  上原将志、髙橋淳、高橋有希、吉沢隆浩、古庄知己
- Organizer
  第39回日本整形外科学会基礎学術集会
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-24K12369
[Presentation] DNA methylation episignature analysis is useful for reclassification of a maternal inherited missense variant with uncertain significance in the KDM5C gene.2024
- Author(s)
  Kyoko Takano, Tomoko Kawai, Ryojun Takeda, Tomomi Yamaguchi, Kazuhiko Nakabayashi, Shinji Saitoh, Tomoki Kosho
- Organizer
  米国人類遺伝学会（ASHG2024）
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K07934
[Presentation] Three patients with Wiedemann-Steiner syndrome2023
- Author(s)
  Kyoko Takano, Tomoko Kawai, Tomomi Yamaguchi, Keiko Wakui, Kazuhiko Nakabayashi, Kenichiro Hata, Shinji Saitoh, Tomoki Kosho
- Organizer
  米国人類遺伝学会（ASHG2023）
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] Epigenetic signatures help interpret a nonsense variant with uncertain significance in the last exon of the KMT2A gene2023
- Author(s)
  Kyoko Takano, Tomoko Kawai, Tomomi Yamaguchi, Kazuhiko Nakabayashi, Kenichiro Hata, Shinji Saitoh, Tomoki Kosho
- Organizer
  日本人類遺伝学会第68回大会（アジア太平洋人類遺伝学会第14回大会、東アジア人類遺伝学会連合第22回大会と合同開催）
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07815
[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を用いた包括的骨病態解析2023
- Author(s)
  高橋有希、吉沢隆浩、水本秀二、小野史子、嶋田新、上原将志、渡邉敬文、山田修平、高橋淳、古庄知己
- Organizer
  第70回日本実験動物学会総会
- Data Source
  KAKENHI-PROJECT-23K07780
[Presentation] 筋拘縮型エーラス・ダンロス症候群における脊柱変形の臨床像とモデルマウス脊椎の組織学的検討2023
- Author(s)
  上原将志、髙橋淳、高橋有希、吉沢隆浩、古庄知己
- Organizer
  第4回日本エーラス・ダンロス症候群（EDS）研究会
- Data Source
  KAKENHI-PROJECT-23K07780
[Presentation] Chst14 KOマウスの出生率に対する環境エンリッチメントの効果2023
- Author(s)
  嶋田新、吉沢隆浩、岩渕忍、江崎真司、山中仁木、古庄知己
- Organizer
  第70回日本実験動物学会総会
- Data Source
  KAKENHI-PROJECT-23K07780
[Presentation] Epigenetic signatures help interpret a nonsense variant with uncertain significance in the last exon of the KMT2A gene2023
- Author(s)
  Kyoko Takano, Tomoko Kawai, Tomomi Yamaguchi, Kazuhiko Nakabayashi, Kenichiro Hata, Shinji Saitoh, Tomoki Kosho
- Organizer
  日本人類遺伝学会第68回大会（アジア太平洋人類遺伝学会第14回大会、東アジア人類遺伝学会連合第22回大会と合同開催）
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K07934
[Presentation] Pathophysiological investigation on skeletal manifestations of Musculocontractural Ehlers Danlos Syndrome2023
- Author(s)
  Yuki Takahashi, Takahiro Yoshizawa, Fumiko Ono, Shuji Mizumoto, Shuhei Yamada, Tomoki Kosho
- Organizer
  Human Genetics Asia 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K07780
[Presentation] 筋拘縮型エーラス・ダンロス症候群の原因遺伝子CHST14の欠損により、Collagen XV上のデルマタン硫酸が消失する2023
- Author(s)
  橋本康平、吉沢隆浩、古庄知己、野村義宏、宮田真路
- Organizer
  第4回日本エーラス・ダンロス症候群（EDS）研究会
- Data Source
  KAKENHI-PROJECT-23K07780
[Presentation] Chst14 KOマウスを用いた筋拘縮型エーラス・ダンロス症候群の病態解明2023
- Author(s)
  吉沢隆浩、高橋有希、嶋田新、小野史子、岳鳳鳴、水本秀二、山中仁木、山田修平、古庄知己
- Organizer
  信州実験動物研究会第40回研究発表会
- Data Source
  KAKENHI-PROJECT-19K08745
[Presentation] 環境エンリッチメトを用いたChst14 KOマウスの出生率改善方法の検討2023
- Author(s)
  嶋田新、吉沢隆浩、岩渕忍、江﨑真司、山中仁木、古庄知己
- Organizer
  信州実験動物研究会第40回研究発表会
- Data Source
  KAKENHI-PROJECT-19K08745
[Presentation] 筋拘縮型EDSのモデルマウスによる破骨細胞分化誘導解析：骨病変の全容解明を目指して(JEFA賞授賞演題)2023
- Author(s)
  高橋有希、吉沢隆浩、小野史子、岳鳳鳴、古庄知己
- Organizer
  第4回日本エーラス・ダンロス症候群（EDS）研究会
- Data Source
  KAKENHI-PROJECT-23K07780
[Presentation] Three patients with Wiedemann-Steiner syndrome2023
- Author(s)
  Kyoko Takano, Tomoko Kawai, Tomomi Yamaguchi, Keiko Wakui, Kazuhiko Nakabayashi, Kenichiro Hata, Shinji Saitoh, Tomoki Kosho
- Organizer
  米国人類遺伝学会（ASHG2023）
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K07934
[Presentation] 筋拘縮型エーラス・ダンロス症候群モデルマウスにおける大腸の解析2023
- Author(s)
  小野史子、吉沢隆浩、高橋有希、水本秀二、古庄知己
- Organizer
  第70回日本実験動物学会総会
- Data Source
  KAKENHI-PROJECT-23K07780
[Presentation] 筋拘縮型エーラス・ダンロス症候群(mcEDS)疾患モデルマウスを用いた骨病態解明への取り組み2022
- 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67回大会
- Data Source
  KAKENHI-PROJECT-19K08745
[Presentation] 筋拘縮型エーラス・ダンロス症候群モデルマウスにおける大腸の解析2022
- Author(s)
  小野史子、吉沢隆浩、高橋有希、水本秀二、古庄知己
- Organizer
  第3回日本エーラス・ダンロス症候群(EDS)研究会
- Data Source
  KAKENHI-PROJECT-19K08745
[Presentation] Chst14 KO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の解析と治療法探索2022
- Author(s)
  吉沢隆浩、高橋有希、小野史子、嶋田新、岳鳳鳴、水本秀二、山田修平、古庄知己
- Organizer
  第3回日本エーラス・ダンロス症候群(EDS)研究会
- Data Source
  KAKENHI-PROJECT-19K08745
[Presentation] CHD2関連疾患の2例2022
- Author(s)
  高野亨子、西岡誠、福山哲広、降籏めぐみ、細谷まち子、山口智美1、古庄知己
- Organizer
  第65回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] DeSanto-Shinawi症候群の２例2022
- Author(s)
  高野亨子、原田　由紀子、山口智美、涌井敬子、古庄知己
- Organizer
  日本人類遺伝学会第67回大会
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] 疾患モデルマウスを用いた筋拘縮型エーラス・ダンロス症候群の包括的骨病変解析2022
- Author(s)
  高橋有希、吉沢隆浩、水本秀二、上原将志、渡邉敬文、小野史子、嶋田新、山田修平、高橋淳、古庄知己
- Organizer
  第3回日本エーラス・ダンロス症候群(EDS)研究会
- Data Source
  KAKENHI-PROJECT-19K08745
[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
- Data Source
  KAKENHI-PROJECT-19H03616
[Presentation] 信州大学医学部附属病院遺伝子医療研究センターにおけるてんかん遺伝子パネル解析の有用性の検討2021
- Author(s)
  高野亨子、山口智美、涌井敬子、福山哲広、武田良淳、古庄知己
- Organizer
  日本人類遺伝学会第66回大会
- Data Source
  KAKENHI-PROJECT-18K07815
[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
- Data Source
  KAKENHI-PROJECT-19K08745
[Presentation] 早期の歯の交換を示したWiedemann-Steiner症候群の2例2021
- Author(s)
  高野亨子、正村正仁、村上康彦、山口智美、阪下達哉、花房宏昭、湊川真理、涌井敬子、柴崎拓実7、上田宗胤、大須賀直人、古庄知己
- Organizer
  第43回日本小児遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] Proteoglycan synthesis and EDS2021
- Author(s)
  Tomoki Kosho
- Organizer
  International research symposium: Connective Tissue, Immune System & Rare Ehlers Danlos Syndrome
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03616
[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
- Data Source
  KAKENHI-PROJECT-19H03616
[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
- Data Source
  KAKENHI-PROJECT-19K08745
[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
- Data Source
  KAKENHI-PROJECT-19H03616
[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
- Data Source
  KAKENHI-PROJECT-19H03616
[Presentation] 月齢1カ月時に焦点起始発作群発で発症したPitt-Hopkins症候群の1例2021
- Author(s)
  髙野亨子、福山哲広、平林佳奈枝、山口智美、古庄知己
- Organizer
  第53回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-18K07815
[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
- Data Source
  KAKENHI-PROJECT-19K08745
[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
- Data Source
  KAKENHI-PROJECT-19H03616
[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
- Data Source
  KAKENHI-PROJECT-19H03616
[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
- Data Source
  KAKENHI-PROJECT-19H03616
[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
- Data Source
  KAKENHI-PROJECT-19H03616
[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
- Data Source
  KAKENHI-PROJECT-19H03616
[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
- Data Source
  KAKENHI-PROJECT-19H03616
[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(Analysis of Chst14 Knockout Mice as an Animal Model of Musculocontractural Ehlers-Danlos Syndrome)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
- Data Source
  KAKENHI-PROJECT-19K08745
[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
- Data Source
  KAKENHI-PROJECT-19H03616
[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
- Invited
- Data Source
  KAKENHI-PROJECT-19H03616
[Presentation] “Ion AmpliSeq data のCNV検出法”を用いたCNV解析が遺伝学的診断に有用であった2例2020
- Author(s)
  高野亨子、西尾信哉、山口智美、涌井敬子、福山哲広、久保田紀子、武田良淳、古庄知己
- Organizer
  日本人類遺伝学会第65回大会
- Data Source
  KAKENHI-PROJECT-18K07815
[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
- Data Source
  KAKENHI-PROJECT-19H03616
[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
- Data Source
  KAKENHI-PROJECT-19H03616
[Presentation] TRIO遺伝子関連知的障害の親子例2020
- Author(s)
  阪下達哉，高野亨子，柴直子，小島朋美，山口智美，涌井敬子，古庄知己
- Organizer
  日本人類遺伝学会第65回大会
- Data Source
  KAKENHI-PROJECT-18K07815
[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
- Invited
- Data Source
  KAKENHI-PROJECT-19H03616
[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
- Data Source
  KAKENHI-PROJECT-19H03616
[Presentation] SYNGAP1関連知的障害の5例2020
- Author(s)
  高野亨子、福山哲広、本林光雄、山崎佐和子、山口智美、涌井敬子、柳久美子、要匡、古庄知己
- Organizer
  第62回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-18K07815
[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
- Data Source
  KAKENHI-PROJECT-19H03616
[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
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03616
[Presentation] 過成長を伴う発達遅滞・知的障害の遺伝要因および臨床症状の検討2019
- Author(s)
  高野亨子、藤田直久、福山哲広、本林光雄、稲葉雄二、細谷まち子、山口智美、涌井敬子、要匡、秦健一郎、福嶋義光、古庄知己
- Organizer
  第61回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-18K07815
[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
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03616
[Presentation] 信州大学遺伝子医療研究センターにおけるてんかん遺伝子パネルを用いたクリニカルシークエンスの現状2019
- Author(s)
  髙野亨子、福山哲広、夏目岳典、湊川真理、古庄知己
- Organizer
  第11回日本小児科学会長野地方会
- Data Source
  KAKENHI-PROJECT-18K07815
[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
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03616
[Presentation] 信大病院遺伝子医療研究センター「ID外来」におけるマイクロアレイおよび次世代シークエンサーを用いた遺伝学的診断 -第2報-2019
- Author(s)
  高野亨子、涌井敬子、山口智美、湊川真理、花房宏昭、武田良淳、石川真澄、黄瀬恵美子、小島朋美、福山哲広、夏目岳典、本林光雄、稲葉雄二、平林伸一、笛木昇、要匡、秦健一郎、松原洋一、福嶋義光、古庄知己
- Organizer
  日本人類遺伝学会第64回大会
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] Smith-Kingsmore症候群の2例2019
- Author(s)
  髙野亨子、山口智美、涌井敬子、福嶋義光、古庄知己
- Organizer
  第41回日本小児遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-18K07815
[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
- Invited
- Data Source
  KAKENHI-PROJECT-19H03616
[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
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03616
[Presentation] Skin and Vascular Abnormalities in Chst14 Gene-Deleted Mice, an Animal Model of Musculocontractual Ehlers-Danlos Syndrome2019
- Author(s)
  Takahiro Yoshizawa, Shuji Mizumoto, Yuki Takahashi, Shin Shimada, Kazuyuki Sugahara, Jun Nakayama, Shin’ichi Takeda, Yoshihiro Nomura, Yuko Nitahara-Kasahara, Takashi Okada, Kiyoshi Matsumoto, Shuhei Yamada, Tomoki Kosho
- Organizer
  The Ehlers-Danlos Society , Scientific Meeting on the Rarer Types of Ehlers-Danlos Syndromes 2019
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K08745
[Presentation] Genetic evaluation of patients with neurodevelopmental disorders at the Center for Medical Genetics, Shinshu University Hospital in Matsumoto, Japan.2019
- Author(s)
  Kyoko Takano, Keiko Wakui, Tomomi Yamaguchi, Tetsuhiro Fukuyama, Yuji Inaba, Tadashi Kaname, Kenichiro Hata, Yoichi Matsubara, Yoshimitsu Fukushima, Tomoki Kosho
- Organizer
  19th International Workshop on Fragile X and other Neurodevelopmental Disorders
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07815
[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
- Data Source
  KAKENHI-PROJECT-19H03616
[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
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03616
[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(Skin and Vascular Abnormalities in Chst14 Knockout Mice, an Animal Model of Musculocontractural Ehlers-Danlos Syndrome)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 , 日本人類遺伝学会第64回大会
- Data Source
  KAKENHI-PROJECT-19K08745
[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
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03616
[Presentation] Pathophysiological investigation of musculocontractural EDS caused by mutations in CHST14 using knock-out mice2018
- Author(s)
  Takahiro Yoshizawa, Shuji Mizumoto, Yuki Takahashi, Shin Shimada, Kazuyuki Sugahara, Jun Nakayama, Shin’ichi Takeda, Yoshihiro Nomura, Yuko Nitahara-Kasahara, Takashi Okada, Kiyoshi Matsumoto, Shuhei Yamada, Tomoki Kosho
- Organizer
  The International Symposium on the Ehlers-Danlos Syndromes (EDS2018),Ghent, Belgium, 9/28
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K08251
[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エーラス・ダンロス症候群の診断法の開発2018
- Author(s)
  山田和夫、渡辺淳、古庄知己、水本秀二、山田修平、竹下治男、松本健一
- Organizer
  第50回日本結合組織学会学術大会、福岡、6/30
- Data Source
  KAKENHI-PROJECT-16K08251
[Presentation] Musculocontractural Ehlers-Danlos syndrome caused by a CHST14 deficiency results in defect in urinary dermatan sulfate2018
- Author(s)
  Shuji Mizumoto, Tomoki Kosho, Atsushi Hatamochi, Tomoko Honda, Tomomi Yamaguchi, Nobuhiko Okamoto, Noriko Miyake, Kazuyuki Sugahara, Shuhei Yamada
- Organizer
  The International Symposium on the Ehlers-Danlos Syndromes (EDS2018),Ghent, Belgium, 9/27
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K08251
[Presentation] Three individuals with neurodevelopmental disorders caused by heterozygous protein- truncating variants in KMT5B.2018
- Author(s)
  Kyoko Takano, Tetsuhiro Fukuyama, Mitsuo Motobayashi, Machiko Hosoya, Tomomi Yamaguchi, Rie Kawamura, Keiko Wakui, Yoshimitsu Fukushima, Tomoki Kosho
- Organizer
  米国人類遺伝学会
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] Structural alteration of glycosaminoglycan side chains and spatial disorganization of collagen networks in the skin of patients with musculocontractural Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency2018
- Author(s)
  Tomoki Kosho, Takuya Hirose, Naoki Takahashi, Prasarn Tangkawattana, Jun Minaguchi, Shuji Mizumoto Shuhei Yamada; Noriko Miyake, Atsushi Hatamochi, Jun Nakayama, Tomomi Yamaguchi, Kazushige Takehana
- Organizer
  American Society of Human Genetics (ASHG) 2018, San Diego, USA, 10/19
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K08251
[Presentation] McEDS-CHST14患者におけるデコリン糖鎖変異のI型コラーゲン細線維形成に及ぼす影響2018
- Author(s)
  橋本綾菜、野村義宏、広瀬拓哉、竹花一成、美名口順、水本秀二、山田修平、古庄知己、笠原優子、岡田尚巳
- Organizer
  第50回日本結合組織学会学術大会、福岡、6/29
- Data Source
  KAKENHI-PROJECT-16K08251
[Presentation] KMT5B遺伝子変異による神経発達症の3例2018
- Author(s)
  髙野亨子、福山哲弘、本林光雄、細谷まち子、山口智美、河村理恵、涌井敬子、福嶋義光、古庄知己
- Organizer
  日本人類遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] デルマタン硫酸エピメラーゼ欠損によるmusculocontractural Ehlers-Danlos Syndromeの既報告3例と新規3例における臨床像の検討2017
- Author(s)
  〇運﨑愛、Charlotte Kvist Lautrup、Keng Wee Teik、水本秀二、Heng Hock Sin、Irene Kibaek Nielsen、Sara Markholt、山田修平、松本直通、三宅紀子、古庄知己
- Organizer
  日本人類遺伝学会第62回大会
- Data Source
  KAKENHI-PROJECT-16K08251
[Presentation] Ehlers-Danlos syndrome caused by mutations in CHST14/D4ST1 results in defect of urinary dermatan sulfate2017
- Author(s)
  Shuji Mizumoto, ◯Shuhei Yamada, Tomoki Kosho, Atsushi Hatamochi, Tomoko Honda, Tomomi Yamaguchi, Nobuhiko Okamoto, Noriko Miyake, and Kazuyuki Sugahara
- Organizer
  7 Lakes Proteoglycans Conference
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K08251
[Presentation] Delineation of musculocontractural Ehles-Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS-DSE): report of additional patients and comprehensive review of reported cases2017
- Author(s)
  〇A. Unzaki, CK. Lautrup, K. Wee Teik, S. Mizumoto, H. Hock Sin, IK. Nielsen, S. Markholt, S. Yamda, N. Matsumoto, N. Miyake, and T. Kosho
- Organizer
  American Society of Human Genetics 2017 Meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K08251
[Presentation] 信州大学医学部附属病院遺伝子医療研究センター知的障害（ID）外来の取り組み2017
- Author(s)
  高野亨子、本林光雄、稲葉雄二、福山哲広、平林伸一、西恵理子、笛木昇、山口智美、涌井敬子、柳久美子、要匡、秦健一郎、古庄知己、福嶋義光
- Organizer
  第59回日本小児神経学会学術集会
- Place of Presentation
  大阪国際会議場(大阪市）
- Year and Date
  2017-06-15
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] CRISPR/Cas9を用いたMusculocontractural Ehlers-Danlos Syndrome-CHST14ノックアウトマウスの作製と病態解析2017
- Author(s)
  〇笠原（仁田原）優子、島津苑子、増田千明、積田奈々、水本秀二、井上(上野) 由紀子、井上高良、吉沢隆浩、高橋有希、池上良、中山淳、武田伸一、渡邉淳、古庄知己、岡田尚巳
- Organizer
  2017年度生命科学系学会合同年次大会（ConBio2017）、第40回日本分子生物学会年会、第90回日本生化学会大会
- Data Source
  KAKENHI-PROJECT-16K08251
[Presentation] Development of diagnostic method of Ehlers-Danlos syndrome using nano-LC/MS/MS2017
- Author(s)
  ◯山田和夫、渡辺淳、古庄知己、水本秀二、山田修平、竹下治男、松本健一
- Organizer
  2017年度生命科学系学会合同年次大会（ConBio2017）、第40回日本分子生物学会年会、第90回日本生化学会大会
- Data Source
  KAKENHI-PROJECT-16K08251
[Presentation] 臨床遺伝って面白い！　一人一人を大切にする学問の世界へようこそ2016
- Author(s)
  古庄知己
- Organizer
  第36回北陸臨床遺伝研究会
- Place of Presentation
  金沢医科大学（石川県川北郡）
- Year and Date
  2016-02-21
- Invited
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] SHANK3遺伝子変異を認めた1女児例2016
- Author(s)
  高野亨子、古庄知己、涌井敬子、福嶋義光
- Organizer
  第58回日本小児神経学会学術集会
- Place of Presentation
  京王プラザホテル新宿（東京都）
- Year and Date
  2016-06-03
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] 肝脾腫を呈したCoffin-Siris症候群の1男児例2016
- Author(s)
  高野亨子、本林光雄、山口智美、涌井敬子、稲葉雄二、古庄知己、福嶋義光
- Organizer
  第39回日本小児遺伝学会学術集会
- Place of Presentation
  慶應義塾大学（東京都）
- Year and Date
  2016-12-09
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] デルマタン4-O-硫酸基転移酵素-1の欠損によるエーラス・ダンロス症候群患者由来の尿中デルマタン硫酸の定量解析2016
- Author(s)
  ◯水本秀二、古庄知己、籏持淳、本田智子、山田修平、菅原一幸
- Organizer
  日本薬剤師会東海ブロック・日本薬学会東海支部合同学術大会2016
- Place of Presentation
  長良川国際会議場・岐阜都ホテル(岐阜)
- Year and Date
  2016-10-30
- Data Source
  KAKENHI-PROJECT-16K08251
[Presentation] Quantification of dermatan sulfate from urine in Ehlers-Danlos syndrome caused by carbohydrate sulfotransferase 14 (CHST14)/dermatan 4-O-sulfotransferase-1 (D4ST1) deficiency2016
- Author(s)
  ◯Shuji Mizumoto, Tomoki Kosho, Atsushi Hatamochi, Tomoko Honda, Shuhei Yamada, and Kazuyuki Sugahara
- Organizer
  XXVIII International Carbohydrate (ICS2016)
- Place of Presentation
  Marriott Hotel (New Orleans, USA)
- Year and Date
  2016-07-19
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K08251
[Presentation] 知的障害(Intellectual Disability: ID)外来～2年間の成果～2016
- Author(s)
  髙野亨子、古庄知己、福嶋義光
- Organizer
  第8回日本小児科学会長野地方会
- Place of Presentation
  上田市文化会館ホール/中央公民館（上田市）
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] デルマタン硫酸の生合成不全によるエーラス・ダンロス症候群の糖鎖生物学的研究2016
- Author(s)
  水本秀二, 古庄知己, 本田智子,中島正宏, Thomas Muller, 三宅紀子, 籏持淳, 松本直通, Andreas R Janecke, 池川志郎, 菅原一幸, ○山田修平
- Organizer
  第35回日本糖質学会年会
- Place of Presentation
  高知市文化プラザ（高知）
- Year and Date
  2016-09-03
- Data Source
  KAKENHI-PROJECT-16K08251
[Presentation] エーラス・ダンロス症候群患者由来の尿中デルマタン硫酸の定量2016
- Author(s)
  ◯水本秀二, 古庄知己, 籏持淳, 本田智子, 山田修平, 菅原一幸
- Organizer
  第８０回日本生化学会中部支部例会・シンポジウム
- Place of Presentation
  三重大学講堂（津）
- Year and Date
  2016-05-21
- Data Source
  KAKENHI-PROJECT-16K08251
[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モデルマウスの作製および病態解析2016
- Author(s)
  ◯笠原優子、積田奈々、増田千明、島田苑子、水本秀二、井上由起子、井上高良、吉沢隆浩、中山淳、高橋有希、武田伸一、古庄知己、岡田尚巳
- Organizer
  第８９回日本生化学会大会
- Place of Presentation
  仙台国際センター・東北大学川内北キャンパス (仙台)
- Year and Date
  2016-09-26
- Data Source
  KAKENHI-PROJECT-16K08251
[Presentation] 信州大学医学部附属病院遺伝子診療部知的障害（ID）外来の取り組み～第2報～2016
- Author(s)
  高野亨子、神谷素子、稲葉雄二、福山哲広、平林伸一、笛木昇、西恵理子、古庄知己、福嶋義光
- Organizer
  第１１９回日本小児科学会学術集会
- Place of Presentation
  ロイトン札幌（札幌市）
- Year and Date
  2016-05-13
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] Hepatosplenomegaly as the initial manifestation of Coffin-Siris syndrome caused by an ARID1B mutation.2016
- Author(s)
  Kyoko Takano, Mitsuo Motobayashi, Tomomi Yamaguchi, Keiko Wakui, Yuji Inaba, Yoshimitsu Fukushima, Tomoki Kosho
- Organizer
  第66回米国人類遺伝学会
- Place of Presentation
  バンクーバーコンベンションセンター（カナダ）
- Year and Date
  2016-10-18
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] Genetic evaluation of patients with intellectual disability (ID) using chromosomal microarray and targeted next-generation sequencing at the “ID clinic”2016
- Author(s)
  Kyoko Takano, Tomoki Kosho, Keiko Wakui, Motoko Kamiya, Mitsuo Motobayashi, Naoko Shiba, Tetsuhiro Fukuyama, Noboru Fueki, Shinichi Hirabayashi, Eriko Nishi, Masumi Ishikawa, Emiko Kise, Tomomi Yamaguchi, Rie Kawamura, Yuji Inaba, Yoshimitsu Fukushima
- Organizer
  ICHG 2016
- Place of Presentation
  京都国際会館（京都市）
- Year and Date
  2016-04-04
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] Two patients diagnosed with BPAN in infancy.2015
- Author(s)
  Kyoko Takano, Naoko Shiba, Kazuya Goto, Tomomi Yamaguchi, Keiko Wakui, Tomoki Kosho, Yuji Inaba, Yoshimitsu Fukushima
- Organizer
  ASHG 2015
- Place of Presentation
  Baltimore（米国）
- Year and Date
  2015-10-06
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] International Collaborative Study on D4ST1-deficient EDS.2015
- Author(s)
  Kosho T
- Organizer
  2nd Meeting of the International Ehlers-Danslos Syndrome Consortium
- Place of Presentation
  Glasgow Convention Center（スコットランド）
- Year and Date
  2015-06-06
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] Dermatan 4-O-sulfotransferase 1-Deficiency: a new form of Ehlers-Danlos Syndrome characterized by various malformations and progressive multisystem fragility-related manifestations2015
- Author(s)
  Kosho T
- Organizer
  BMB2015(第38回日本分子生物学会年会・第88回日本生化学会大会合同大会)
- Place of Presentation
  神戸国際会議場（兵庫県神戸市）
- Year and Date
  2015-12-01
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] 信州大学医学部附属病院遺伝子診療部知的障害（ID）外来開設1年間の成果－遺伝学的背景・臨床症状の検討－2015
- Author(s)
  高野亨子、柴直子、本林光雄、稲葉雄二、福山哲広、平林伸一、笛木昇、西恵理子、石川真澄、黄瀬恵美子、山口智美、河村理恵、涌井敬子、古庄知己、福嶋義光
- Organizer
  第38回日本小児遺伝学会学術集会
- Place of Presentation
  パシフィコ横浜会議センター（横浜市）
- Year and Date
  2015-07-25
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] Natural history of dermatan 4-O-sulfotransferase 1 (D4ST1)-deficient Ehlers-Danlos Syndrome (DDEDS): from an international collaborative clinical study by the International Consortium for EDS.2015
- Author(s)
  Kosho T, Syx D, Van Damme T, Morisaki H, Kawame H, Sonoda T, Hilhorst-Hofstee Y, Maugeri A, Voermans N, Mendoza-Londono R, Wierenga K, Jayakar P, Ishikawa K, Kobayashi T, Aoki Y, Watanabe S, Ohura T, Kono M, Mochida K, Morisaki T, Miyake N, Malfait F.
- Organizer
  American Society of Human Genetics 65nd Annual Meeting, Baltimore
- Place of Presentation
  Baltimore Convention Center（米国）
- Year and Date
  2015-10-06
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] 信州家族性腫瘍ネットワーク（仮）構築の提案2015
- Author(s)
  古庄知己
- Organizer
  第20回信州遺伝子診療研究会
- Place of Presentation
  信州大学医学部
- Year and Date
  2015-01-30
- Invited
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] 信州大学医学部附属病院遺伝子診療部知的障害（ID）外来受診患者の遺伝学的背景・臨床症状の検討2015
- Author(s)
  高野亨子、古庄知己、涌井敬子、神谷素子、石川真澄、黄瀬恵美子、山口智美、河村理恵、西恵理子、柴直子、本林光雄、稲葉雄二、福山哲広、平林伸一、笛木昇、福嶋義光
- Organizer
  日本人類遺伝学会第６０回大会
- Place of Presentation
  京王プラザホテル（東京都）
- Year and Date
  2015-10-14
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] デルマタン4-O-硫酸基転移酵素1（D4ST1）欠損に基づくエーラスダンロス症候群（DDEDS）の国際共同臨床調査2015
- Author(s)
  古庄知己、森崎裕子、川目裕、園田徹、石川健、小林朋子、青木洋子、大浦敏博、河野通浩、持田耕介、森崎隆幸、三宅紀子
- Organizer
  日本人類遺伝学会第60回大会
- Place of Presentation
  京王プラザホテル（東京都新宿区）
- Year and Date
  2015-10-14
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] 次世代シーケンスの臨床応用～遺伝性結合組織疾患のパネル解析を中心に～2015
- Author(s)
  古庄知己
- Organizer
  第39回日本遺伝カウンセリング学会学術集会
- Place of Presentation
  三井ガーデンホテル千葉（千葉県千葉市）
- Year and Date
  2015-06-26
- Invited
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] EDS研究の現状2014
- Author(s)
  古庄知己
- Organizer
  2014年度JEFA総会
- Place of Presentation
  鎌倉芸術館
- Year and Date
  2014-06-14
- Invited
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] 難病対策のあり方を考える～医師の立場から～遺伝カウンセリングを中心に2014
- Author(s)
  古庄知己
- Organizer
  神経疾患ケアシンポジウム
- Place of Presentation
  信州大学医学部附属病院
- Year and Date
  2014-07-12
- Invited
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] 長野県における新型出生前診断への対応2014
- Author(s)
  古庄知己
- Organizer
  飯田市立病院勉強会
- Place of Presentation
  飯田市立病院（長野県）
- Year and Date
  2014-09-17
- Invited
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] 遺伝子診療に関する基本～難聴遺伝子診療外来での経験から～2014
- Author(s)
  古庄知己
- Organizer
  第6回難聴遺伝子の研究会
- Place of Presentation
  慶應義塾大学病院
- Year and Date
  2014-07-05
- Invited
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] 血管奇形を伴う奇形症候群の遺伝学的背景2014
- Author(s)
  古庄知己
- Organizer
  第11回血管腫・血管奇形研究会
- Place of Presentation
  信州大学医学部附属病院
- Year and Date
  2014-07-20
- Invited
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] 先天代謝異常症と遺伝カウンセリング2014
- Author(s)
  古庄知己
- Organizer
  第10回長野県稀少難病治療研究会
- Place of Presentation
  信州大学医学部附属病院
- Year and Date
  2014-10-10
- Invited
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] DDEDSの疾患モデルとしてのD4st1欠損マウスの表現型解析.2014
- Author(s)
  古庄知己
- Organizer
  第37回日本小児遺伝学会
- Place of Presentation
  名古屋市立大学
- Year and Date
  2014-04-10
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] 障がいを持つ子どもたちが安心して暮らせる社会をめざして！2014
- Author(s)
  古庄知己
- Organizer
  NPO法人未来の風「療育センターらいふ・みらい」設立10周年記念式典
- Place of Presentation
  ホテル翔峰（長野県松本市）
- Year and Date
  2014-11-29
- Invited
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] 長野県における新型出生前診断への対応2014
- Author(s)
  古庄知己
- Organizer
  新生児看護セミナー
- Place of Presentation
  長野県立こども病院
- Year and Date
  2014-11-15
- Invited
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] Establishment and Validation of iPS Cells and Knockout Mice for dermatan 4-O-sulfotransferase 1 (D4ST1)-deficient Ehlers-Danlos Syndrome (DDEDS)2013
- Author(s)
  Kosho T, Yue F, Saka S, Tsumita N, Kasahara Y, Okada T, Mizumoto S, Kobayashi M, Nakayama J, Miyake N, Nomura Y, Era T, Hatamochi A, Fukushima Y, Matsumoto N, Sugahara K, Sasaki K, Takeda S
- Organizer
  American Society of Human Genetics 63nd Annual Meeting
- Place of Presentation
  Boston Convention Center, Boston, USA
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] デルマタン4-O-硫酸基転移酵素（D4ST1）欠損によるEhlers-Danlos症候群（DDEDS）の疾患モデルの構築と検証2013
- Author(s)
  古庄知己、岳鳳鳴、坂翔太、積田奈々、笠原優子、岡田尚巳、水本秀二、小林身哉、中山淳、三宅紀子、野村義宏、江良択実、籏持淳、石川真澄、涌井敬子、福嶋義光、松本直通、菅原一幸、佐々木克典、武田伸一
- Organizer
  日本人類遺伝学会第58回大会
- Place of Presentation
  江陽グランドホテル（宮城県仙台市）
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] コンドロイチン硫酸/デルマタン硫酸の生合成に関わる酵素の欠損による骨・皮膚疾患2011
- Author(s)
  水本秀二,三宅紀子,古庄知己, Mirjam H.H. van Roij, Beyhan Tuysuz,Stefan Mundlos, Stephen P. Robertson, 山田修平, 松本直通, 菅原一幸
- Organizer
  第30回日本糖質学会年会
- Place of Presentation
  長岡リリックホール、(口頭発表)
- Year and Date
  2011-07-11
- Data Source
  KAKENHI-PROJECT-23790066
[Presentation] コンドロイチン硫酸/デルマタン硫酸の生合成に関わる酵素の欠損による骨・皮膚疾患2011
- Author(s)
  ○水本秀二, 三宅紀子, 古庄知己, Mirjam H.H. van Roij, Beyhan Tuysuz, Stefan Mundlos, Stephen P. Robertson, 山田修平, 松本直通, 菅原一幸
- Organizer
  第30回日本糖質学会年会
- Place of Presentation
  長岡リリックホール(新潟県)
- Data Source
  KAKENHI-PROJECT-23790066
[Presentation] Loss-of-function mutations of dermatan 4-O-sulfotransferase-1 cause a new type of Ehlers-Danlos syndrome2011
- Author(s)
  Shuji Mizumoto, Noriko Miyake, Tomoki Kosho, Shuhei Yamada, Kazuyuki Sugahara, and Naomichi Matsumoto
- Organizer
  The 9th International Symposium for Future Drug Discovery and Medical Care
- Place of Presentation
  Hokkaido Univ、(Poster)
- Year and Date
  2011-09-30
- Data Source
  KAKENHI-PROJECT-23790066
[Presentation] Loss-of-function mutations of dermatan 4-O-sulfotransferase-1 cause a new type of Ehlers-Danlos syndrome2011
- Author(s)
  ◯Shuji Mizumoto, Noriko Miyake, Tomoki Kosho, Shuhei Yamada, Kazuyuki Sugahara, and Naomichi Matsumoto
- Organizer
  The 9th International Symposium for Future Drug Discovery and Medical Care
- Place of Presentation
  Hokkaido Univ. (Sapporo)
- Data Source
  KAKENHI-PROJECT-23790066
[Presentation] Loss-of-function mutations of CHST14 cause a new type of autosomal recessive Ehlers-Danlos syndrome.2010
- Author(s)
  Miyake N, Kosho T, Mizumoto S, Furuichi T, Hatamochi A, Ikegawa S, Yamada S, Sugahara K, Matsumoto N.
- Organizer
  American Society of Human Genetics (oral presentation)
- Place of Presentation
  アメリカ・ワシントンDC
- Year and Date
  2010-11-03
- Data Source
  KAKENHI-PROJECT-21790341
[Presentation] 重篤な染色体異常を持つ子どものマネジメント(特別講演)2007
- Author(s)
  古庄知己
- Organizer
  第100回東京小児外科研究会
- Place of Presentation
  経団連会館(東京)
- Year and Date
  2007-06-12
- Data Source
  KAKENHI-PROJECT-18790758
[Presentation] 重篤な先天性疾患と診断された胎児とその家族へのケア-信州大学医学部附属病院の試み-2007
- Author(s)
  古庄知己
- Organizer
  第9回遺伝性疾患に関する甲信越・北陸出生前診断研究会
- Place of Presentation
  信州大学(松本)
- Year and Date
  2007-10-06
- Data Source
  KAKENHI-PROJECT-18790758
[Presentation] Cold-induced sweating syndromeの1例2007
- Author(s)
  古庄知己, ら
- Organizer
  第52日本人類遺伝学会
- Place of Presentation
  京王プラザホテル(東京)
- Data Source
  KAKENHI-PROJECT-18790758
[Presentation] Inta-nasal DDAVP administration for the prevention of massive subcutaneous hematoma in dermatan 4-O-sulfotransferase 1 (D4ST1)-deficient Ehlers-Danlos Syndrome (DDEDS).
- Author(s)
  Kosho T
- Organizer
  American Society of Human Genetics 64nd Annual Meeting
- Place of Presentation
  San Diego Convention Center, USA
- Year and Date
  2014-10-18 – 2014-10-22
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] A duplication of the CDKL5 gene identified in a boy with developmental delay with autistic behavior, short stature and microcephaly
- Author(s)
  Kyoko Takano, Takafumi Nishimura, Keiko Wakui, Satoru Takahashi, Yuji Inaba, Tomoki Kosho, Yoshimitsu Fukushima
- Organizer
  米国人類遺伝学会
- Place of Presentation
  San Diego Convention Center（米国）
- Year and Date
  2014-10-18 – 2014-10-22
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] 次世代シーケンサion PGMを用いた遺伝性結合組織疾患の候補遺伝子解析．
- Author(s)
  古庄知己
- Organizer
  第37回日本遺伝カウンセリング学会学術集会
- Place of Presentation
  近畿大学ノーベンバーホール，大阪
- Year and Date
  2014-06-27 – 2014-06-29
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] デルマタン4-O-硫酸基転移酵素-1欠損に基づく新型エーラスダンロス症候群の発見
- Author(s)
  古庄知己、三宅紀子、福嶋義光
- Organizer
  第116回日本小児科学会学術集会
- Place of Presentation
  広島国際会議場など（広島県広島市）
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] 信州大学医学部附属病院遺伝子診療部知的障害（ID）外来開設の試み
- Author(s)
  高野亨子、本林光雄、稲葉雄二、福山哲広、平林伸一、笛木昇、西恵理子、古庄知己、福嶋義光
- Organizer
  日本小児科学会学術集会
- Place of Presentation
  大阪国際会議場（大阪府）
- Year and Date
  2015-04-17 – 2015-04-19
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] Phenotypic Features of Knockout Mice for dermatan 4-O-sulfotransferase 1 (D4ST1)-deficient Ehlers-Danlos Syndrome (DDEDS).
- Author(s)
  Kosho T
- Organizer
  The European Human Genetics Conference 48th
- Place of Presentation
  Milan Convention Center, Italy
- Year and Date
  2014-05-31 – 2014-06-03
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] 次世代シーケンサion PGMを用いた遺伝性結合組織疾患パネル解析
- Author(s)
  古庄知己
- Organizer
  日本人類遺伝学会第59回大会
- Place of Presentation
  タワーホール船堀，東京
- Year and Date
  2014-11-19 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] D4ST1欠損に基づくEhlers-Danlos症候群の遺伝子解析状況
- Author(s)
  古庄知己、三宅紀子、福嶋義光、松本直通
- Organizer
  第36回日本小児遺伝学会
- Place of Presentation
  エソール広島（広島県広島市）
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] D4ST1-deficient Ehlers-Danlos症候群におけるiPS細胞とノックアウトマウスの確立．
- Author(s)
  古庄知己
- Organizer
  第117回日本小児科学会学術集会
- Place of Presentation
  名古屋国際会議場
- Year and Date
  2014-04-11 – 2014-04-13
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] CDKL5遺伝子重複を認めた低身長と小頭症を伴う発達遅滞の男児例
- Author(s)
  高野　亨子、西村　貴文、涌井　敬子、山口　智美、高橋　悟、稲葉　雄二、古庄　知己、福嶋　義光
- Organizer
  日本人類遺伝学会59回大会
- Place of Presentation
  タワーホール船堀（東京都）
- Year and Date
  2014-11-20 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] デルマタン4-O-硫酸基転移酵素-1欠損に基づく新型エーラスダンロス症候群（DDEDS）の発見
- Author(s)
  古庄知己
- Organizer
  第11回東北小児成長フォーラム
- Place of Presentation
  ホテルメトロポリタン仙台（宮城県仙台市）
- Invited
- Data Source
  KAKENHI-PROJECT-25460405

1. WAKUI Keiko (50324249)

# of Collaborated Projects: 7 results

# of Collaborated Products: 28 results
2. MIYAKE Noriko (40523494)

# of Collaborated Projects: 6 results

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3. MIZUMOTO Shuji (40443973)

# of Collaborated Projects: 6 results

# of Collaborated Products: 55 results
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40. STEFAN Mundlos

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41. LIHADH Al-gazali

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42. KATRIN Hoffmann

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50. 岡田尚已

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51. 飛彈麻里子

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53. 秋山真志

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Kosho Tomoki 古庄 知己

KOSHO Tomoki 古庄 知己

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

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Clinical and molecular investigation for new forms of Ehlers-Danlos syndromePrincipal Investigator

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Kosho Tomoki 古庄知己

KOSHO Tomoki 古庄知己

[Book] 最新医学別冊　新しい診断と治療のABC(42)　大動脈瘤・大動脈解離2013

[Book] 小児科学第3版, 13/18トリソミー症候群2008

[Book] 小児科学第3版, Down症候群2008

[Book] 小児科学第3版, 糖代謝異常2008