Investigation for pathogenesity of "osteolysis" in multcentric carpotarsal osteolysis

• Project/Area Number: 15K09623
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Okayama University
• Principal Investigator: Hasegawa Kosei 岡山大学, 大学病院, 講師 (90467738)
• Research Collaborator: HIGUCHI Yousuke ; YAMASHITA Miho
• Project Period (FY): 2015-04-01 – 2018-03-31
• Project Status: Completed (Fiscal Year 2017)
• Budget Amount: ¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000); Fiscal Year 2017: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000); Fiscal Year 2016: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000); Fiscal Year 2015: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
• Keywords: 骨形成 / 骨吸収 / 骨芽細胞 / 軟骨細胞

Outline of Final Research Achievements

We conducted functional analysis of Wild and mutant (T62P and R63G) in MC3T3E1 and ATDC5. Overexpression of wild MafB induced apoptosis in MC3T3E1. In ATDC5, we analyzed runx2 mRNA expression before confluent state and after confluent state and we observed different runx2 mRNA expression according to the differentiation stage (Before confluent state, wild=T62P>R63G; after confluent state, runx2 R63G>T52P>wild).

Research Products

• [Journal Article] Acanthosis nigricans in a Japanese boy with hypochondroplasia due to a K650T mutation in <i>FGFR3</i> (2017)
  • Author(s): Hiroki Hirai, Junpei Hamada, Kosei Hasegawa, and Eiichi Ishii
  • Journal Title: Clinical Pediatric Endocrinology Volume: 26 Issue: 4 Pages: 223-228
  • DOI: 10.1297/cpe.26.223
  • NAID: 130006105777
  • ISSN: 0918-5739, 1347-7358
  • Peer Reviewed / Open Access
• [Journal Article] A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature. (2017)
  • Author(s): Higuchi Y, Hasegawa K, Yamashita M, Tanaka H, Tsukahara H.
  • Journal Title: J Med Case Rep. Volume: 11 Issue: 1 Pages: 237-237
  • DOI: 10.1186/s13256-017-1396-y
  • Peer Reviewed / Open Access
• [Journal Article] Urinary Cross-linked N-terminal Telopeptide of Type I Collagen Levels of Infants with Osteogenesis Imperfecta and Healthy Infants. (2017)
  • Author(s): Yamashita M, Hasegawa K, Higuchi Y, Miyai T, Okada A, Tanaka H, Tsukahara H.
  • Journal Title: Acta Med Okayama Volume: 70 Pages: 435-439
  • NAID: 120005971537
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features. (2017)
  • Author(s): Hasegawa K, Numakura C, Tanaka H, Furujo M, Kubo T, Higuchi Y, Yamashita M, Tsukahara H.
  • Journal Title: J Pediatr Endocrinol Metab. Volume: 30 Issue: 1 Pages: 117-121
  • DOI: 10.1515/jpem-2016-0258
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria. (2017)
  • Author(s): Hasegawa K, Tanaka H, Yamashita M, Higuchi Y, Miyai T, Yoshimoto J, Okada A, Suzuki N, Iwatsuki K, Tsukahara H.
  • Journal Title: JIMD Rep. Volume: 印刷中 Pages: 99-106
  • DOI: 10.1007/8904_2017_20
  • ISBN: 9783662563588, 9783662563595
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] 成長障害 (2016)
  • Author(s): 大塚文男, 中村絵里, 長谷川高誠
  • Journal Title: medicina Volume: 53 Pages: 85089-85089
• [Journal Article] HDR syndrome in a Japanese girl with biliary atresia; a case report (2016)
  • Author(s): Higuchi Y, Hasegawa K, Yamashita M, Fujii Y, Tanaka H, Tsukahara H.
  • Journal Title: BMC Pediatr. Volume: 16 Issue: 1 Pages: 14-14
  • DOI: 10.1186/s12887-016-0550-9
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Changes in facial appearance from neonate to adult in 3-M syndrome patient with novel CUL7 gene mutations. (2016)
  • Author(s): Hasegawa K, Tanaka H, Higuchi Y, Yamashita M, Tsukahara H.
  • Journal Title: J Pediatr Endocrinol Metab. Volume: 29 Issue: 2 Pages: 241-246
  • DOI: 10.1515/jpem-2015-0272
  • Peer Reviewed / Acknowledgement Compliant
• [Presentation] 骨系統疾患の診療と遺伝子診断 (2018)
  • Author(s): 長谷川高誠
  • Organizer: 西日本小児内分泌講演会
  • Invited
• [Presentation] 子どもの成長、成長障害と成長曲線 (2017)
  • Author(s): 長谷川高誠
  • Organizer: 第71回国立病院総合医学会
  • Invited
• [Presentation] 今もう一度整理したいトランジション 軟骨無形成症～成人期の問題点と移行に向けて～ (2017)
  • Author(s): 長谷川高誠
  • Organizer: nordiscience forum 2017
  • Invited
• [Presentation] 小児期骨形成不全症の内科治療 (2016)
  • Author(s): 長谷川高誠
  • Organizer: 第7回遺伝カウンセリングアドバンストセミナー
  • Place of Presentation: 一橋大学 一橋講堂
  • Year and Date: 2016-01-10
  • Invited
• [Presentation] くる病：古くて新しい病気 (2015)
  • Author(s): 長谷川高誠
  • Organizer: 南予小児科医会
  • Place of Presentation: 宇和島市
  • Year and Date: 2015-10-24
  • Invited
• [Presentation] 「心身症・発達障害」に潜んでいた疾患を診て-大学病院の小児内分泌医の経験から- (2015)
  • Author(s): 長谷川高誠
  • Organizer: 第23回岡山小児心身症研究会
  • Place of Presentation: 岡山大学
  • Year and Date: 2015-07-19
  • Invited
• [Presentation] Vitamin D resistance in hypovitaminosis D (2015)
  • Author(s): Hiroyuki Tanaka, Moe Takatsuka, Chika Okahara, Yoshie Noguchi, Kazuo Ogura, Tsutomu Takata, Kosei Hasegawa
  • Organizer: The 11th Asian Society For Pediatric Research
  • Place of Presentation: Osaka
  • Year and Date: 2015-04-15
  • Int'l Joint Research
• [Presentation] A girl with HDR syndrome: hypoparathyroidism inhibits rickets in biliary atresia (2015)
  • Author(s): Yosuke Higuchi, Kosei Hasegawa, Yasuko Tsurumaru, Yousuke Fujii, Miho Yamashita, Hiroyuki Tanaka, Hirokazu Tsukahara
  • Organizer: The 11th Asian Society For Pediatric Research
  • Place of Presentation: Osaka
  • Year and Date: 2015-04-15
  • Int'l Joint Research
• [Book] 小児内分泌学 第9章 F.骨系統疾患 (2016)
  • Author(s): 長谷川高誠
  • Total Pages: 635
  • Publisher: 診断と治療社