Approach to the progeroid syndrome including laminopathy
| Project/Area Number |
21591321
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Osaka University |
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Principal Investigator |
MIYOSHI Yoko 大阪大学, 医学(系)研究科(研究院), 助教 (40457023)
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| Co-Investigator(Renkei-kenkyūsha) |
NAMBA Noriyuki 大阪大学, 医学(系)研究科(研究院), 助教 (10379076)
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| Project Period (FY) |
2009 – 2012
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| Project Status |
Completed (Fiscal Year 2012)
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| Budget Amount *help |
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2012: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2011: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2010: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2009: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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| Keywords | 老化 / 早老症 / ラミン / ラミノパチー / 成長障害 / 骨代謝 / ゲノム / exome解析 / 早老化 / 線維芽細胞 / 糖鎖 |
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| Research Abstract |
We have reportedon four Japanesechildren (two pedigrees) with progeroid syndrome. Aminobisphosphonate has improved lumbar BMD along with suppression of early ageing in the mandibuloacral dysplasia (MAD) sisters. We have found a new mutation by exome analysis in the other progeroid patients with unknown etiology.
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Report
(5 results)
Research Products
(48 results)
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[Journal Article] Low serum concentration of anti-Mullerian hormone are common in 53 female childhood cancer survivors.2013
Author(s)
Miyoshi Y, Ohta H, Namba N, Tachibana M, Miyamura T, Miyashita E, Hashii Y, Oue T, Isobe A, Tsutsui T, Kimura T, Ozono K.
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Journal Title
Hormone Research in Paediatrics
Volume: 79
Pages: 17-21
Related Report
Peer Reviewed
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[Journal Article] Molecular and Clinical Studies in 138 Japanese Patients with Silver-Russell Syndrome.2013
Author(s)
Fuke T, Mizuno S, Nagai T, Hasegawa T, Horikawa R, Miyoshi Y, Muroya K, Kondoh T, Numakura C, Sato S, Nakabayashi K, Tayama C, Hata K, Sano S, Matsubara K, Kagami M, Yamazawa K, Ogata T.
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Related Report
Peer Reviewed
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[Journal Article] Humoral immunity is involved in the development of pericentral fibrosis after pediatric live donor liver transplantation.2012
Author(s)
Yamada H, Kondou H, Kimura T, Ikeda K, Tachibana M, Hasegawa Y, Kiyohara Y, Ueno T,Miyoshi Y, Mushiake S, Ozono K
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Journal Title
Pediatric Transplantation
Volume: 16
Pages: 858-865
Related Report
Peer Reviewed
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[Journal Article] 副腎白質ジストロフィーの日本男児11人における副腎機能解析2011
Author(s)
三善陽子, 酒井規夫, 池田佳世, 長谷川泰浩, 橘真紀子, 清原由起, 山田寛之, 近藤宏樹, 濱田悠介, 木村志保子, 里龍晴, 峰淳史, 神尾範子, 鈴木保宏, 塩見正司, 太田秀明, 下澤伸行, 大薗恵一
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Journal Title
日本内分泌学会雑誌
Volume: 87
Pages: 83-85
Related Report
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[Journal Article] Clinical aspects and adrenal functions in eleven Japanese children with X-linked adrenoleukodystrophy.2010
Author(s)
Miyoshi Y, Sakai N, Hamada Y, Tachibana M, Hasegawa Y, Kiyohara Y, Yamada H, Murakami M, Kondou H, Kimura-Ohba S, Mine J, Sato T, Kamio N, Ueda H, Suzuki Y, Shiomi M, Ohta H, Shimozawa N, Ozono K.
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Journal Title
Endocrine Journal
Volume: 57 (11)
Pages: 965-972
NAID
Related Report
Peer Reviewed
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[Journal Article] Increased type 3 iodothyronine deiodinase activity in a regrown hepatic hemangioma with consumptive hypothyroidism.2010
Author(s)
Bessho K, Etani Y, Ichimori H, Miyoshi Y, Namba N, Yoneda A, Ooue T, Chihara T, Morii E, Aoki T, Murakami M, Mushiake S, Ozono K.
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Journal Title
Eur J Pediatr
Volume: 169(2)
Pages: 215-221
Related Report
Peer Reviewed
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[Journal Article] Clinical aspects and adrenal functions in eleven Japanese children with X-linked adrenoleukodystrophy.2010
Author(s)
Miyoshi Y, Sakai N, Hamada Y, Tachibana M, Hasegawa Y, Kiyohara Y, Yamada H, Murakami M, Kondou H, Kimura-Ohba S, Mine J, Sato T, Kamio N, Ueda H, Suzuki Y, Shiomi M, Ohta H, Shimozawa N, Ozono K
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Journal Title
Endocrine Journal
Volume: 57(11)
Pages: 965-972
NAID
Related Report
Peer Reviewed
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[Journal Article] Increased type 3 iodothyronine deiodinase activity in a regrown hepatic hemangioma with consumptive hypothyroidism2010
Author(s)
Bessho K, Etani Y, Ichimori H, Miyoshi Y, Namba N, Yoneda A, Ooue T, Chihara T, Morii E, Aoki T, Murakami M, Mushiake S, Ozono K.
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Journal Title
Eur J Pediatr 169(2)
Pages: 215-21
Related Report
Peer Reviewed
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[Journal Article] A Case of Pediatric Virilizing Adrenocortical Tumor Resulting in Hypothalamic-pituitary Activation and Central Precocious Puberty Following Surgical Removal.2009
Author(s)
Miyoshi Y, Oue T, Oowari M, Soh H, Tachibana M, Kimura S, Kiyohara Y, Yamada H, Bessyo K, Mushiake S, Homma K, Hasegawa T, Sasano H, Ozono K.
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Journal Title
Endocrine Journal
Volume: 56(8)
Pages: 975-982
NAID
Related Report
Peer Reviewed
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[Journal Article] A Case of Pediatric Virilizing Adrenocortical Tumor Resulting in Hypothalamic-pituitary Activation and Central Precocious Puberty Following Surgical Removal2009
Author(s)
Miyoshi Y, Oue T, Oowari M, Soh H, Tachibana M, Kimura S, Kiyohara Y, Yamada H, Bessyo K, Mushiake S, Homma K, Hasegawa T, Sasano H, Ozono K.
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Journal Title
Endocrine Journal 56(8)
Pages: 975-82
NAID
Related Report
Peer Reviewed
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[Presentation] Clinical aspects and adrenal functions of eleven Japanese patients with childhood X-linked adrenoleukodystrophy.2010
Author(s)
Miyoshi Y, Sakai N, Hamada Y, Tachibana M, Hasegawa Y, Kiyohara Y, Yamada H, Murakami M, Kondou H, Kimura-Ohba S, Mine J, Sato T, Kamio N, Ueda H, Suzuki Y, Shiomi M, Ohta H, Shimozawa N, Ozono K
Organizer
アメリカ内分泌学会
Place of Presentation
San Diego
Year and Date
2010-06-21
Related Report
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[Presentation] 小児肝移植後患者の内科的視点からみた長期フォローにおける問題点2010
Author(s)
三善陽子, 近藤宏樹, 長谷川泰浩, 池田佳世, 橘真紀子, 清原由起, 山田寛之, 別所一彦, 虫明聡太郎, 萩原邦子, 井原欣幸, 上野豪久, 福澤正洋, 大薗恵一
Organizer
第37回日本小児栄養消化器肝臓学会
Place of Presentation
香川
Related Report
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