KAWAI Tomoki 河合朋樹

Researcher Number	20631568
Other IDs
Affiliation (based on the past Project Information) *help	2016 – 2017: 京都大学, 医学研究科, 助教 2016: 京都大学, 医学研究科, 特定病院助教 2012 – 2016: 京都大学, 医学(系)研究科(研究院), 助教
Review Section/Research Field	Principal Investigator Pediatrics Except Principal Investigator Pediatrics
Keywords	Principal Investigator 小児消化器学 / 内科 / 小児消化器病学 / 小児科学 / 新規治療法の開発 / 国内患者疫学調査 / 先天異常 / 小児科 / エキソンスキップ / FLNA … More / 潰瘍性大腸炎 / クローン病 / MAIT細胞 / 炎症性腸疾患 / 免疫学 / 下部消化管学 … More Except Principal Investigator 単球、マクロファージ / CAPS / 自己炎症疾患 / 軟骨細胞 / 単球・マクロファージ / モザイシズム / 病態解明 / iPS細胞 / インフラマソーム / 自己炎症性疾患 Less

ＦＬＮＡ異常症の病態解明、診断法の確立、および新規治療法の開発Principal Investigator
- Principal Investigator
  
  河合朋樹
- Project Period (FY)
  2016 – 2017
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Kyoto University
Establishing a platform for molecular analysis and drug innovation of auto-inflammatory disorders
- Principal Investigator
  
  Heike Toshio
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research (A)
- Research Field
  
  Pediatrics
- Research Institution
  Kyoto University
Investigation of pathology and development of specific medial care system and treatment associated with FLNA deficiencyPrincipal Investigator
- Principal Investigator
  
  Kawai Tomoki
- Project Period (FY)
  2014 – 2015
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Kyoto University
global genetic analysis of inflammatory bowel disease associated with primary immunodeficiencyPrincipal Investigator
- Principal Investigator
  
  KAWAI Tomoki
- Project Period (FY)
  2012 – 2013
- Research Category
  
  Grant-in-Aid for Research Activity Start-up
- Research Field
  
  Pediatrics
- Research Institution
  Kyoto University

All 2018 2017 2016 2014 2012 Other

All Journal Article Presentation

[Journal Article] A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos like collagenosis, and thrombocytopenia2018
- Author(s)
  Daisuke IEDA, Ikumi HORI, Yuji NAKAMURA, Hironori OHSHITA, Yutaka NEGISHI,　Tsutomu SHINOHARA, Ayako HATTORI, Takenori KATO, Sachiko INUKAI ,Katsumasa KITAMURA, Tomoki KAWAI, Osamu OHARA, Shinji KUNISHIMA, Shinji SAITOH
- Journal Title
  
  Brain and Development
  
  Volume: 印刷中
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K19641
[Journal Article] Reply to Walsh et al.2017
- Author(s)
  Tomoki Kawai
- Journal Title
  
  European Journal of Human Genetics
  
  Volume: - Issue: 8 Pages: 907-907
- DOI
  10.1038/ejhg.2016.192
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K19641
[Journal Article] Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function2016
- Author(s)
  Oda H., Sato T., Kunishima S., Nakagawa K., Izawa K., Hiejima E., Kawai T., Yasui T., Doi H., Katamura K., Numabe H., Okamoto S., Nakase H., Hijikata A., Ohara O., Suzuki H., Morisaki H., Morisaki T., Nunoi H., Hattori S., Nishikomori R., Heike T.
- Journal Title
  
  Eur J Hum Genet
  
  Volume: 24 Issue: 3 Pages: 408-414
- DOI
  10.1038/ejhg.2015.119
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H04876, KAKENHI-PROJECT-25461143, KAKENHI-PROJECT-26860796
[Journal Article] Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.2014
- Author(s)
  Nakagawa K, Kawai T, Umebayashi H, Takei S, Kobayashi N, Yashiro M, Kubota T, Koike R, Akuta N, Shimoyama K, Iwata N, Saito MK, Ohara O, Kambe N, Yasumi T, Izawa K, Kawai T, Heike T, Yagüe J, Nishikomori R, Aróstegui JI et al.
- Journal Title
  
  Ann Rheum Dis.
  
  Volume: in press Issue: 3 Pages: 1-8
- DOI
  10.1136/annrheumdis-2013-204361
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-23249056, KAKENHI-PROJECT-24390263, KAKENHI-PROJECT-24590681, KAKENHI-PROJECT-25460838, KAKENHI-PROJECT-25461591, KAKENHI-PROJECT-26253062
[Journal Article] Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency.2012
- Author(s)
  Tomoki Kawai
- Journal Title
  
  Allergology International
  
  Volume: 61 Pages: 207-17
- NAID
  130004477140
- Data Source
  KAKENHI-PROJECT-24890095
[Presentation] Periventricular nodular heterotopia and connective tissue anomalies associated with a FLNA mutation2017
- Author(s)
  Daisuke Ieda, Ikumi Hori, Yuji Nakamura, Hironori Ohshita, Yutaka Negishi Tsutomu Shinohara, Ayako Hattori, Takenori Kato, Sachiko Inukai Katsumasa Kitamura, Shinji Kunishima, Tomoki Kawai, Osamu Ohara, Shinji Saitoh
- 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
- Year and Date
  2017-06-15
- Data Source
  KAKENHI-PROJECT-16K19641
[Presentation] エクソンスキップに伴い非典型的な表現型を呈したFilamin A異常症の兄弟例2014
- Author(s)
  小田紘嗣　河合朋樹　中川権史　日衛嶋栄太郎　井澤和司　西小森隆太　小原收　沼部博直　平家俊男
- Organizer
  日本小児科学会
- Place of Presentation
  名古屋
- Year and Date
  2014-04-12
- Data Source
  KAKENHI-PROJECT-26860796
[Presentation] IBD患者では有意なMucosal associated invariant T細胞の減量、アポトーシスの亢進が認められる2014
- Author(s)
  日衛嶋栄太郎、河合朋樹、仲瀬裕志、鶴山竜昭、森本剛、八角高裕、松浦稔、吉野琢哉、池内浩基、久松理一、河田健二、酒井義治、千葉勉、西小森隆太、平家俊男
- Organizer
  第51回日本消化器免疫学会
- Place of Presentation
  京都
- Data Source
  KAKENHI-PROJECT-24890095
[Presentation] 次世代シーケンサーを用いた“変異陰性TRAPS”における体細胞モザイクの検索
- Author(s)
  19.中川権史、西小森隆太、河合朋樹、八角高裕、平家俊男
- Organizer
  第117回日本小児科学会学術集会
- Place of Presentation
  名古屋
- Year and Date
  2014-04-11 – 2014-04-13
- Data Source
  KAKENHI-PROJECT-26253062

1. Ohara Osamu (20370926)

# of Collaborated Projects: 2 results

# of Collaborated Products: 3 results
2. Heike Toshio (90190173)

# of Collaborated Projects: 1 results

# of Collaborated Products: 3 results
3. IZAWA Kazushi (90634931)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
4. Suzuki Hidenori (30158977)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
5. Kunishima Shinji (60373495)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
6. Oda Hirotsugu (20772239)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
7. Hiejima Eitaro (60773520)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
8. 八角高裕 (00511891)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
9. 西小森隆太 (70359800)

# of Collaborated Projects: 1 results

# of Collaborated Products: 3 results
10. 斎藤潤 (90535486)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
11. NAKAGAWA Kenji

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
12. 戸田口淳也

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
13. 神戸直智

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

KAWAI Tomoki 河合 朋樹

Research Projects

Research Products

Co-Researchers

ＦＬＮＡ異常症の病態解明、診断法の確立、および新規治療法の開発Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Establishing a platform for molecular analysis and drug innovation of auto-inflammatory disorders

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Investigation of pathology and development of specific medial care system and treatment associated with FLNA deficiencyPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

global genetic analysis of inflammatory bowel disease associated with primary immunodeficiencyPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Journal Article] A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos like collagenosis, and thrombocytopenia2018

Author(s)

Journal Title

Data Source

[Journal Article] Reply to Walsh et al.2017

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function2016

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.2014

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency.2012

Author(s)

Journal Title

NAID

Data Source

[Presentation] Periventricular nodular heterotopia and connective tissue anomalies associated with a FLNA mutation2017

Author(s)

Organizer

Place of Presentation

Year and Date

Data Source

[Presentation] エクソンスキップに伴い非典型的な表現型を呈したFilamin A異常症の兄弟例2014

Author(s)

Organizer

Place of Presentation

Year and Date

Data Source

[Presentation] IBD患者では有意なMucosal associated invariant T細胞の減量、アポトーシスの亢進が認められる2014

Author(s)

Organizer

Place of Presentation

Data Source

[Presentation] 次世代シーケンサーを用いた“変異陰性TRAPS”における体細胞モザイクの検索

Author(s)

Organizer

Place of Presentation

Year and Date

Data Source

KAWAI Tomoki 河合朋樹