Kawashima Yuki 鞁嶋有紀

… Alternative Names

KAWASHIMA Yuki 鞁嶋有紀

SONOYAMA Yuki 園山有紀

鞁嶋有紀カワシマユキ

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Researcher Number	20403412
Other IDs
External Links
Affiliation (Current)	2025: 島根大学, 学術研究院医学・看護学系, 准教授
Affiliation (based on the past Project Information) *help	2024: 島根大学, 学術研究院医学・看護学系, 准教授 2014 – 2019: 鳥取大学, 医学部, 講師 2010 – 2011: 鳥取大学, 医学部附属病院, 助教 2007: 鳥取大, 医学部, 助手 2006: 鳥取大, 医学部附属病院 2006: 鳥取大学, 医学部, 助手
Review Section/Research Field	Principal Investigator Pediatrics / Basic Section 59030:Physical education, and physical and health education-related Except Principal Investigator Pediatrics
Keywords	Principal Investigator GH-IGFシグナル / 成長障害 / 小児科学 / 小児内分泌学 / 遺伝性成長障害 / 判定プログラム / 成長曲線 / 内分泌学 / 遺伝子 / GH-IGF系経路 … More / IGF1R / 次世代シークエンス / 病態解明 / 遺伝子解析 / GH-IGF系経路関連蛋白 / 遺伝子異常 … More Except Principal Investigator 胎内発育遅延 / IGF-I不応症 / インスリン様成長因子 / 低身長 / IGF insensitivity / Type 1 IGF receptor / short stature / IUGR / insulin-like growth factor / I型IGF受容体 / 1型IGF受容体 / 遺伝子変異 / 偽性副甲状腺機能低下症 / IL-6 / Castleman病 / 小胞体関連分解 / IGF-I / SGA性低身長 / 成長ホルモン不応症 / IGF-I受容体異常症 / インスリン受容体異常症 / インスリン受容体 / IGF受容体 / 小児内分泌学 Less

簡便な新しい成長曲線異常判定プログラムで行う包括的健康管理の取り組みPrincipal Investigator
- Principal Investigator
  
  鞁嶋有紀
- Project Period (FY)
  2024 – 2026
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 59030:Physical education, and physical and health education-related
- Research Institution
  Shimane University
Elucidation of mechanism for short stature with abnormal GH-IGF signalingPrincipal Investigator
- Principal Investigator
  
  KAWASHIMA YUKI
- Project Period (FY)
  2017 – 2019
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Tottori University
The elucidation of growth failure due to GH/IGF signaling abnormalityPrincipal Investigator
- Principal Investigator
  
  Kawashima Yuki
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Tottori University
Growth hormone insensitivity due to disorders of insulin like growth factor system
- Principal Investigator
  
  KANZAKI Susumu
- Project Period (FY)
  2012 – 2014
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Tottori University
Role of IGF-1system in growth-functional analysis of Acid Labile Subunit(ALS) and IGF1RPrincipal Investigator
- Principal Investigator
  
  KAWASHIMA Yuki
- Project Period (FY)
  2010 – 2011
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Tottori University
Anomalies of IGF-I receptor : Functional and phenotypical analysis of novel IGF-I receptor gene mutation
- Principal Investigator
  
  KANZAKI Susumu
- Project Period (FY)
  2009 – 2011
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Tottori University
胎内発育と成長におけるIGF受容体の役割:子宮内発育不全性低身長の病態解明Principal Investigator
- Principal Investigator
  
  鞁嶋有紀
- Project Period (FY)
  2006 – 2007
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Tottori University
Study on IGF-I insensitivity: Function and phenotype of mutated IGF-I receptor gene
- Principal Investigator
  
  KANZAKI Susumu
- Project Period (FY)
  2006 – 2007
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Tottori University

All 2019 2017 2016 2015 2014 2013 2012 2011 2010 2009 Other

All Journal Article Presentation

[Journal Article] IGF2 Mutations2019
- Author(s)
  Masunaga Yohei、Inoue Takanobu、Yamoto Kaori、Fujisawa Yasuko、Sato Yasuhiro、Kawashima-Sonoyama Yuki、Morisada Naoya、Iijima Kazumoto、Ohata Yasuhisa、Namba Noriyuki、Suzumura Hiroshi、Kuribayashi Ryota、Yamaguchi Yu、Yoshihashi Hiroshi、Fukami Maki、Saitsu Hirotomo、Kagami Masayo、Ogata Tsutomu
- Journal Title
  
  The Journal of Clinical Endocrinology & Metabolism
  
  Volume: 105 Issue: 1 Pages: 116-125
- DOI
  10.1210/clinem/dgz034
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K08243, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-17K10078, KAKENHI-PROJECT-18K15708
[Journal Article] Increased IRS2 mRNA Expression in SGA Neonates: PCR Analysis of Insulin/IGF Signaling in Cord Blood2017
- Author(s)
  Fujimoto M, Sonoyama YK, Fukushima K, Imamoto A, Miyahara F, Miyahara N, Nishimura R, Yamada Y, Miura M, Adachi K, Nanba E, Hanaki K, Kanzaki S.
- Journal Title
  
  J Endocr Soc
  
  Volume: 1 Issue: 12 Pages: 1408-1416
- DOI
  10.1210/js.2017-00294
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K09989, KAKENHI-PROJECT-17K10078
[Journal Article] 11ヵ月の男児に発症した乳瘤の1例2015
- Author(s)
  宮原直樹, 鞁嶋有紀, 藤本正伸, 西村玲, 花木啓一, 神崎晋
- Journal Title
  
  小児科
  
  Volume: 56 Pages: 211-215
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24591512
[Journal Article] A rare <i>CYP 21</i> mutation (p.E431K) induced deactivation of CYP 21A2 and resulted in congenital adrenal hyperplasia2015
- Author(s)
  Kawashima Y, Usui T, Fujimoto M, Miyahara N, Nishimura R, Hanaki K, Kanzaki S
- Journal Title
  
  Endocr J
  
  Volume: 62 Issue: 1 Pages: 101-106
- DOI
  10.1507/endocrj.EJ14-0437
- NAID
  130004699222
- ISSN
  0918-8959, 1348-4540
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24591512, KAKENHI-PROJECT-25461551
[Journal Article] Heterozygous nonsense mutations near the C terminal region of IGF1R in two patients with small-for-gestational-age-related short stature2015
- Author(s)
  Masanobu Fujimoto, Yuki Kawashima Sonoyama, Naoki Hamajima, Takashi Hamajima, Yumiko Kumura, Naoki Miyahara, Rei Nishimura Kaori Adachi, Eiji Nanba, Keiichi Hanaki, Susumu Kanzaki
- Journal Title
  
  Clinical Endocrinology
  
  Volume: 印刷中（掲載予定）
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-26461546
[Journal Article] Clinical overview of nephrogenic diabetes insipidus based on a nationwide survey in Japan2014
- Author(s)
  Fujimoto M, Okada S, Kawashima Y, Nishimura R, Miyahara N, Kawaba Y, Hanaki K, Nanba E, Kondo Y, Igarashi T, Kanzaki S
- Journal Title
  
  Yonago Acta Medica
  
  Volume: 57 Pages: 85-91
- NAID
  120005463512
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24591512
[Journal Article] Familial short stature is associated with a novel dominant-negative heterozygous insulin-like growth factor 1 receptor (IGF1R) mutation2014
- Author(s)
  Kawashima Y, Hakuno F, Okada SI, Hotsubo T, Kinoshita T, Fujimoto M, Nishimura R, Fukushima T, Hanaki K, Takahashi SI, Kanzaki S
- Journal Title
  
  Clinical Endocrinology (Oxf)
  
  Volume: Epub ahead of print Issue: 2 Pages: 1-3
- DOI
  10.1111/cen.12317
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24591512, KAKENHI-PROJECT-24790928, KAKENHI-PROJECT-25461551
[Journal Article] 小児における負荷試験とは?2013
- Author(s)
  藤本正伸　　鞁嶋有紀　　花木啓一　神崎　晋
- Journal Title
  
  小児内科
  
  Volume: 45 Pages: 780-783
- Data Source
  KAKENHI-PROJECT-24591512
[Journal Article] Leprechaunism (Donohue syndrome): a case bearing novel compound heterozygous mutations in the insulin receptor gene.2013
- Author(s)
  Kawashima Y
- Journal Title
  
  Endocrine Journal
  
  Volume: 60 Pages: 107-112
- NAID
  10031156729
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24591512
[Journal Article] Familial short stature with IGF-I receptor gene anomaly2012
- Author(s)
  Kawashima Y, Takahashi S, Kanzaki S
- Journal Title
  
  Endocr J
  
  Volume: 59(Review) Pages: 179-185
- NAID
  10030748947
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22790982
[Journal Article] Familial short stature with IGF-I receptor gene anomaly [Review]2012
- Author(s)
  Kawashima Y, Takahashi S, Kanzaki S
- Journal Title
  
  Endocr J
  
  Volume: 59 Issue: 3 Pages: 179-185
- DOI
  10.1507/endocrj.EJ11-0258
- NAID
  130004443791
- ISSN
  0918-8959, 1348-4540
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591324
[Journal Article] Novel missense mutation in the IGF-I receptor L2 domain results in intrauterine and postnatal growth retardation2012
- Author(s)
  Kawashima Y, Higaki K, Fukushima T, et al
- Journal Title
  
  Clin Endocrinol(Oxf)
  
  Volume: (in press)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22790982
[Journal Article] Familial short stature with IGF-I receptor gene anomaly.2012
- Author(s)
  Kawashima Y
- Journal Title
  
  Endocrine Journal
  
  Volume: 59 Pages: 179-185
- NAID
  10030748947
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24591512
[Journal Article] Novel missense mutation in the IGF-I receptor L2 domain results in intrauterine and postnatal growth retardation2012
- Author(s)
  Kawashima Y, Higaki K, Fukushima T, Hakuno F, Nagaishi JI, Hanaki K, Nanba E, Takahashi SI, Kanzaki S
- Journal Title
  
  Clin.Endocrinol.
  
  Volume: (in press) Issue: 2 Pages: 246-54
- DOI
  10.1111/j.1365-2265.2012.04357.x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21580345, KAKENHI-PROJECT-21591324, KAKENHI-PROJECT-22591128, KAKENHI-PROJECT-22780249, KAKENHI-PROJECT-24591512, KAKENHI-PROJECT-24790928
[Journal Article] Familial short stature with IGF-I receptor gene anomaly[Review]2012
- Author(s)
  Kawashima Y, Takahashi S, Kanzaki S
- Journal Title
  
  Endocr J
  
  Volume: 59巻 Pages: 179-185
- NAID
  130004443791
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22790982
[Journal Article] SGAで出生した低身長児からみつかる遺伝子異常-最近までのIGF1受容体遺伝子異常症の進歩-2012
- Author(s)
  鞁嶋有紀
- Journal Title
  
  小児科臨床
  
  Volume: 65巻 Pages: 977-983
- Data Source
  KAKENHI-PROJECT-22790982
[Journal Article] 奇形症候群と低身長Prader-Willi症候群とNoonan症候群を中心に2010
- Author(s)
  花木啓一, 宮原直樹, 西村玲, 鞁嶋有紀, 長石純一, 神崎晋
- Journal Title
  
  小児内科
  
  Volume: 42(4) Pages: 587-591
- Data Source
  KAKENHI-PROJECT-21591324
[Journal Article] IGF-I/IGF-I受容体異常による低身長2009
- Author(s)
  神崎晋, 鞁嶋有紀, 西村玲, 長石純一, 花木啓一
- Journal Title
  
  実験医学
  
  Volume: 27(19) Pages: 3165-3171
- NAID
  10019499834
- Data Source
  KAKENHI-PROJECT-21591324
[Presentation] IRS1遺伝子変異（p.Ser685_Ser686del）は、IGF作用のみに影響を与え、成長障害を引き起こす2019
- Author(s)
  鞁嶋有紀　伯野史彦　妹尾慎太郎　山口由起子　西村玲　花木啓一　高橋伸一郎　神﨑晋
- Organizer
  第53回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-17K10078
[Presentation] IGFALS遺伝子及びIRS1遺伝子異常が同定されたSGA性低身長の一家系:新たな成長障害の解明2016
- Author(s)
  鞁嶋有紀
- Organizer
  第５０回日本小児内分泌学会学術集会
- Place of Presentation
  東京国際フォーラム(東京都千代田区）
- Year and Date
  2016-11-16
- Data Source
  KAKENHI-PROJECT-26461546
[Presentation] A nonsense mutation at the carboxyl terminal region of IGF1R (p.Q1220X) leads to reduction in IGF-1R protein level, and results in SGA short stature2013
- Author(s)
  Masanobu Fujimoto, Yuki Kawashima, Naoki Hamajima, Rei Nishimura, Keiichi Hanaki and Susumu Kanzaki
- Organizer
  The Endocrine Society's 95th Annual meeting & Expo
- Place of Presentation
  Moscone Center (San Francisco, USA)
- Data Source
  KAKENHI-PROJECT-24591512
[Presentation] A novel nonsense mutation at carboxyl terminal region of IGF-1R (p.Q1220X) causes reduction of the IGF-1R protein, and results in SGA short stature2013
- Author(s)
  Masanobu Fujimoto; Yuki Kawashima; Naoki Hamajima; Rei Nishimura; Keiichi Hanaki; Susumu Kanzaki
- Organizer
  9th Joint Meeting of Paediatric Endocrinology
- Place of Presentation
  Milano Congressi (Milan, Italy)
- Data Source
  KAKENHI-PROJECT-24591512
[Presentation] Congenital adrenal hyperplasia due to 21-hydroxylase deficiency derived from novel compound heterozygous mutations (IVS2-13 A/ C>G and p.E431K)2013
- Author(s)
  Yuki Kawashima; Yoshiki Okayama; Masanobu Fujimoto; Naoki Miyahara; Rei Nishimura; Keiichi Hanaki; Takeshi Usui; Susumu Kanzaki
- Organizer
  9th Joint Meeting of Paediatric Endocrinology
- Place of Presentation
  Milano Congressi (Milan, Italy)
- Data Source
  KAKENHI-PROJECT-24591512
[Presentation] IGF-I受容体遺伝子に新規変異を認めたSGA性低身長の1例2012
- Author(s)
  鞁嶋有紀
- Organizer
  第85回日本内分泌学会学術総会
- Place of Presentation
  名古屋国際会議場(名古屋)
- Year and Date
  2012-04-19
- Data Source
  KAKENHI-PROJECT-22790982
[Presentation] IGF-I受容体遺伝子に新規変異を認めたSGA性低身長の１例2012
- Author(s)
  鞁嶋有紀
- Organizer
  第85回日本内分泌学会学術総会
- Place of Presentation
  名古屋国際会議場（名古屋）
- Data Source
  KAKENHI-PROJECT-24591512
[Presentation] IGF-I受容体遺伝子に新規変異を認めたSGA性低身長の1例2012
- Author(s)
  鞁嶋有紀
- Organizer
  第85回日本内分泌学会学術総会
- Place of Presentation
  名古屋国際会議場
- Year and Date
  2012-04-19
- Data Source
  KAKENHI-PROJECT-22790982
[Presentation] A novel mutation (p.D1105E) of IGF1R detected in a family of short stature has dominant negative effect to IGF1R, not to IR2012
- Author(s)
  Kawashima Y
- Organizer
  Sixth International Congress of the GRS and the IGF Society
- Place of Presentation
  The Gasteig (Munich, Germany)
- Data Source
  KAKENHI-PROJECT-24591512
[Presentation] IGF-I受容体遺伝子異常症の成長パターン-成長ホルモン投与例・未投与例の検討2011
- Author(s)
  鞁嶋有紀
- Place of Presentation
  大宮ソニックシティ(埼玉)
- Year and Date
  2011-10-08
- Data Source
  KAKENHI-PROJECT-22790982
[Presentation] IGF-I受容体遺伝子異常症の成長パターン-成長ホルモン投与例・末投与例の検討2011
- Author(s)
  鞁嶋有紀
- Organizer
  第45回日本小児内分泌学会学術集会
- Place of Presentation
  大宮ソニックシティ(埼玉)
- Year and Date
  2011-10-07
- Data Source
  KAKENHI-PROJECT-22790982
[Presentation] Mutated IGF-I Receptor(D1105E)Extinguish Autophosphorylation : A Family of Short Stature Born intrauterine Growth Retardation Bearing a Novel Missense Mutation of the IGF I Receptor2010
- Author(s)
  Yuki Kawashima
- Organizer
  The Endocrine Society's 92nd Annual Meeting
- Place of Presentation
  San Diego Convention Center (San Diego, USA)
- Data Source
  KAKENHI-PROJECT-21591324
[Presentation] Mutated IGF-I Receptor(D1105E) extinguish autophosphory-lation : A family of short stature born intrauterine growth retardation bearing a novel missense mutation of the IGF I receptor2010
- Author(s)
  Kawashima Y
- Organizer
  The Endocrine Society's 92nd Annual Meeting
- Place of Presentation
  San Diego Convention Center(San Diego, USA)
- Data Source
  KAKENHI-PROJECT-21591324
[Presentation] IGF-I受容体自己リン酸化障害によりSGA性低身長を呈したIGF-I受容体遺伝子異常症の1家族2010
- Author(s)
  鞁嶋有紀
- Organizer
  第44回日本小児内分泌学会学術集会
- Place of Presentation
  大阪市中央公会堂(大阪)
- Data Source
  KAKENHI-PROJECT-21591324
[Presentation] SGA short stature with IGF-I receptor mutation2010
- Author(s)
  Kawashima Y
- Organizer
  14^<th> International Congress of Endocrinology
- Place of Presentation
  京都国際会議場(京都)
- Year and Date
  2010-03-30
- Data Source
  KAKENHI-PROJECT-21591324
[Presentation] IGF-I受容体内在化低下によりSGA性低身長を呈したIGF-I受容体遺伝子異常症のI家系2010
- Author(s)
  鞁嶋有紀
- Organizer
  第113回日本小児科学会学術集会
- Place of Presentation
  盛岡市民文化ホール(盛岡)
- Year and Date
  2010-04-25
- Data Source
  KAKENHI-PROJECT-21591324
[Presentation] SGA short stature with IGF-I receptor mutation2010
- Author(s)
  Kawashima Y
- Organizer
  14th Inter-national Congress of Endocrinology
- Place of Presentation
  京都国際会議場(京都)
- Year and Date
  2010-03-30
- Data Source
  KAKENHI-PROJECT-21591324
[Presentation] Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Derived from Novel Compound Heterozygous Mutations (IVS2-13 A/C>G and p.E431K)
- Author(s)
  Kawashima Y, Okayama Y, Fujimoto F, Miyahara N, Nishimura R, Hanaki K, Usui T, Kanzaki S
- Organizer
  The Endocrine Society's 96th Annual Meeting & Expo
- Place of Presentation
  McCormick Place (Chicago), USA
- Year and Date
  2014-06-21 – 2014-06-24
- Data Source
  KAKENHI-PROJECT-24591512
[Presentation] SGA Short Stature Bearing with a Novel Nonsense Mutation (p.W1219X) in the IGF1R Gene
- Author(s)
  Fujimoto M, Kawashima Y, Hamajima T, Okayama Y, Miyahara M, Nishimura R, Hanaki K, Kanzaki S
- Organizer
  The Endocrine Society's 96th Annual Meeting & Expo
- Place of Presentation
  McCormick Place (Chicago), USA
- Year and Date
  2014-06-21 – 2014-06-24
- Data Source
  KAKENHI-PROJECT-24591512
[Presentation] Three Novel Heterozygous Mutations Were Found in Exon 1 and Intron 1 of GNAS Gene in Patients with Pseudohypoparathyroidism Type 1a
- Author(s)
  Nishimura R, Usui T, Okayama Y, Fujimoto M, Miyahara M, Kawashima Y, Hanaki k, Kanzaki S
- Organizer
  The Endocrine Society's 96th Annual Meeting & Expo
- Place of Presentation
  McCormick Place (Chicago), USA
- Year and Date
  2014-06-21 – 2014-06-24
- Data Source
  KAKENHI-PROJECT-24591512

1. KANZAKI Susumu (90224873)

# of Collaborated Projects: 4 results

# of Collaborated Products: 14 results
2. HANAKI Keiichi (20238041)

# of Collaborated Projects: 4 results

# of Collaborated Products: 13 results
3. NAGATA Ikuo (50252846)

# of Collaborated Projects: 2 results

# of Collaborated Products: 2 results
4. OKADA Shin-ichi (50343281)

# of Collaborated Projects: 2 results

# of Collaborated Products: 2 results
5. NAGAISHI Jun-ichi (90346354)

# of Collaborated Projects: 2 results

# of Collaborated Products: 2 results
6. MURAKAMI Jun (90362889)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
7. Nanba Eiji (40237631)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
8. Adachi Kaori (50609237)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
9. Takahashi Shin-ichiro (00197146)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
10. 伯野史彦 (30282700)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
11. 外谷昭洋 (20616180)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
12. Fujimoto Masanobu

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
13. Hasegawa Akiko

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
14. MORISADA Naoya

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Kawashima Yuki 鞁嶋 有紀

KAWASHIMA Yuki 鞁嶋 有紀

SONOYAMA Yuki 園山 有紀

鞁嶋 有紀 カワシマ ユキ

Research Projects

Research Products

Co-Researchers

簡便な新しい成長曲線異常判定プログラムで行う包括的健康管理の取り組みPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Elucidation of mechanism for short stature with abnormal GH-IGF signalingPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

The elucidation of growth failure due to GH/IGF signaling abnormalityPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Growth hormone insensitivity due to disorders of insulin like growth factor system

Principal Investigator

Project Period (FY)

Research Category

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Role of IGF-1system in growth-functional analysis of Acid Labile Subunit(ALS) and IGF1RPrincipal Investigator

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Anomalies of IGF-I receptor : Functional and phenotypical analysis of novel IGF-I receptor gene mutation

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胎内発育と成長におけるIGF受容体の役割:子宮内発育不全性低身長の病態解明Principal Investigator

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Study on IGF-I insensitivity: Function and phenotype of mutated IGF-I receptor gene

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[Journal Article] IGF2 Mutations2019

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[Journal Article] Increased IRS2 mRNA Expression in SGA Neonates: PCR Analysis of Insulin/IGF Signaling in Cord Blood2017

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[Journal Article] 11ヵ月の男児に発症した乳瘤の1例2015

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[Journal Article] A rare <i>CYP 21</i> mutation (p.E431K) induced deactivation of CYP 21A2 and resulted in congenital adrenal hyperplasia2015

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[Journal Article] Heterozygous nonsense mutations near the C terminal region of IGF1R in two patients with small-for-gestational-age-related short stature2015

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Kawashima Yuki 鞁嶋有紀

KAWASHIMA Yuki 鞁嶋有紀

SONOYAMA Yuki 園山有紀

鞁嶋有紀カワシマユキ