2012 Fiscal Year Final Research Report
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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| 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 |
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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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Research Products
(23 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
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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Journal Title
PLoS ONE
Volume: 8(3)
Pages: e60105
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
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
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
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
Peer Reviewed
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