Approach to the progeroid syndrome including laminopathy

• Project/Area Number: 21591321
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Osaka University
• Principal Investigator: MIYOSHI Yoko 大阪大学, 医学(系)研究科(研究院), 助教 (40457023)
• Co-Investigator(Renkei-kenkyūsha): NAMBA Noriyuki 大阪大学, 医学(系)研究科(研究院), 助教 (10379076)
• Project Period (FY): 2009 – 2012
• Project Status: Completed (Fiscal Year 2012)
• Budget Amount: ¥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)
• 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

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.

Research Products

• [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.
  • Journal Title: Hormone Research in Paediatrics Volume: 79 Pages: 17-21
  • Peer Reviewed
• [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.
  • Journal Title: PLoS ONE Volume: 8(3)
  • Peer Reviewed
• [Journal Article] Generalized lichen nitidus in Russell-Silver syndrome. (2013)
  • Author(s): Kanai C, Terao M, Tanemura A, Miyoshi Y, Ozono K, Katayama I.
  • Journal Title: Pediatric Dermatology Volume: 30(1) Pages: 150-151
  • Peer Reviewed
• [Journal Article] Pediatric Aspects of Skeletal Dysplasia. (2012)
  • Author(s): Ozono K, Namba N, Kubota T, Kitaoka T, Miura K, Ohata Y, Fujiwara M, Miyoshi Y,Michigami T.
  • Journal Title: Pediatric Endocrinology Reviews Volume: 10(1) Pages: 35-42
  • Peer Reviewed
• [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
  • Journal Title: Pediatric Transplantation Volume: 16 Pages: 858-865
  • Peer Reviewed
• [Journal Article] Frasier症候群 (2012)
  • Author(s): 三善陽子、大薗恵一
  • Journal Title: 別冊日本臨床新領域別症候群シリーズ腎臓症候群(第2版) Volume: 17 Pages: 407-409
  • Peer Reviewed
• [Journal Article] Generalized lichen nitidus in russell-silver syndrome (2012)
  • Author(s): Kanai C, Terao M, Tanemura A, Miyoshi Y, Ozono K, Katayama I
  • Journal Title: Pediatric Dermatology Volume: (掲載確定) Issue: 1 Pages: 150-151
  • DOI: 10.1111/j.1525-1470.2011.01613.x
  • Peer Reviewed
• [Journal Article] 小児保健分野で働く女性を取り巻く職場環境・家庭環境と出産・育児・復帰支援体制 (2012)
  • Author(s): 三善陽子、竹宮考子、前川貴伸、和田友香、守本倫子、成田雅美、大薗恵一、堀川玲子
  • Journal Title: 小児保健研究 Volume: 71(1) Pages: 60-66
  • Peer Reviewed
• [Journal Article] nCPAP Improves the Quality of Life of Siblings with Mandibuloacral Dysplasia. (2011)
  • Author(s): Kato-Nishimura K, Mohri I, Nabatame S, Akagi M, Sakai N, Miyoshi Y, Ozono K, Tachibana N and Taniike M.
  • Journal Title: The Open Sleep Journal. Volume: 4 Pages: 26-28
  • Peer Reviewed
• [Journal Article] Major role of apolipoprotein B in cycloheximide-induced acute hepatic steatosis in mice. (2011)
  • Author(s): Murakami M, Bessho K, Mushiake S, Kondou H, Miyoshi Y, Ozono K.
  • Journal Title: Hepatology Research. Volume: 41 Pages: 446-54
  • NAID: 10031144110
  • Peer Reviewed
• [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
  • Journal Title: 日本内分泌学会雑誌 Volume: 87 Pages: 83-85
• [Journal Article] nCPAP Improves the Quality of Life of Siblings with Mandibuloacral Dysplasia (2011)
  • Author(s): Kato-Nishimura K, Mohri I, Nabatame S, Akagi M, Sakai N, Miyoshi Y, Ozono K, Tachibana N, Taniike M
  • Journal Title: The Open Sleep Journal Volume: 4 Issue: 1 Pages: 26-28
  • DOI: 10.2174/1874620901104010026
  • Peer Reviewed
• [Journal Article] Major role of apolipoprotein B in cycloheximide-induced acute hepatic steatosis in mice (2011)
  • Author(s): Murakami M, Besshol K, Mushiake S, Kondou H, Miyoshi Y, Ozono K
  • Journal Title: Hepatology Research Volume: 41(5) Issue: 5 Pages: 446-454
  • DOI: 10.1111/j.1872-034x.2011.00791.x
  • NAID: 10031144110
  • Peer Reviewed
• [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.
  • Journal Title: Endocrine Journal Volume: 57 (11) Pages: 965-972
  • NAID: 10029586842
  • Peer Reviewed
• [Journal Article] Involvement of Aberrant Glycosylation in Thyroid Cancer (2010)
  • Author(s): Eiji Miyoshi, Yasuhiro Ito, Yoko Miyoshi.
  • Journal Title: J Oncol Volume: 2010 Pages: 816595-816595
  • DOI: 10.1155/2010/816595
  • Peer Reviewed
• [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.
  • Journal Title: Eur J Pediatr Volume: 169(2) Pages: 215-221
  • Peer Reviewed
• [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
  • Journal Title: Endocrine Journal Volume: 57(11) Pages: 965-972
  • NAID: 10029586842
  • Peer Reviewed
• [Journal Article] Involvement of Aberrant Glycosylation in Thyroid Cancer (2010)
  • Author(s): Miyoshi E, Ito Y, Miyoshi Y
  • Journal Title: Journal of Oncology Pages: 816595-816595
  • Peer Reviewed
• [Journal Article] 最新成長障害の診かたと対応:小児がん経験者と晩期内分泌障害 (2010)
  • Author(s): 三善陽子, 大薗恵一
  • Journal Title: 小児内科 Volume: 42(4) Pages: 627-631
• [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.
  • Journal Title: Eur J Pediatr 169(2) Pages: 215-21
  • Peer Reviewed
• [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.
  • Journal Title: Endocrine Journal Volume: 56(8) Pages: 975-982
  • NAID: 10026915662
  • Peer Reviewed
• [Journal Article] A Japanese Male Patient with 'Fibular Aplasia, Tibial Campomelia and Oligodactyly': An Additional Case Report. (2009)
  • Author(s): Kitaoka T, Namba N, Kim JY, Kubota T, Miura K, Miyoshi Y, Hirai H, Kogo M, Ozono K.
  • Journal Title: Clin Pediatr Endocrinol. Volume: 18(3) Pages: 81-86
  • NAID: 10031199596
  • Peer Reviewed
• [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.
  • Journal Title: Endocrine Journal 56(8) Pages: 975-82
  • NAID: 10026915662
  • Peer Reviewed
• [Journal Article] A Japanese Male Patient with 'Fibular Aplasia, Tibial Campomelia and Oligodactyly' : An Additional Case Report (2009)
  • Author(s): Kitaoka T, Namba N, Kim JY, Kubota T, Miura K, Miyoshi Y, Hirai H, Kogo M, Ozono K.
  • Journal Title: Clinical Pediatric Endocrinology 18(3) Pages: 81-86
  • NAID: 10031199596
  • Peer Reviewed
• [Presentation] ビスフォスフォネート投与で骨密度の改善がみられた早老症姉妹例 (2013)
  • Author(s): 中尾紀恵,三善陽子,中川夏季,木村武司,橘真紀子,長谷川泰浩,近藤宏樹,難波範行,大薗恵一
  • Organizer: 第22回臨床内分泌代謝Update
  • Place of Presentation: 埼玉
  • Year and Date: 2013-01-18
• [Presentation] 血清抗ミュラー管ホルモン(AMH)測定は小児の性腺機能評価に有用である (2011)
  • Author(s): 三善陽子, 橘真紀子, 難波範行, 宮下恵実子, 橋井佳子, 太田秀明, 大薗恵一
  • 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(さいたま市)
  • Year and Date: 2011-10-06
• [Presentation] 小児のT3優位型バセドウ病患者におけるFT3/FT4比 (2011)
  • Author(s): 三善陽子, 難波範行, 中田幸子, 三木和典, 伊藤充, 大薗恵一
  • Organizer: 第84回日本内分泌学会学術集会
  • Place of Presentation: 神戸国際会議場(神戸市)
  • Year and Date: 2011-04-21
• [Presentation] 副腎白質ジストロフィーの日本人男児11例の副腎皮質機能解析<優秀演題賞受賞> (2011)
  • Author(s): 三善陽子、橘真紀子、長谷川泰浩、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、太田秀明、酒井規夫、下澤伸行、大薗恵一
  • Organizer: 第20回臨床内分泌代謝Up date
  • Place of Presentation: 札幌
• [Presentation] 小児保健分野における女性を取りまく職場環境と出産・育児・復帰支援の現状 (2010)
  • Author(s): 三善陽子、大薗恵一、堀川玲子
  • Organizer: 第57回日本小児保健学会
  • Place of Presentation: 新潟
  • Year and Date: 2010-09-17
• [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
• [Presentation] Osteoporosis and Partial Lipodystrophy in Two Sibling Patients with Premature Aging Disease, Mandibuloacral Dysplasia. (2010)
  • Author(s): Yoko Miyoshi, Noriyuki Namba, Keiichi Ozono.
  • Organizer: 14th International Congress of Endocrinology
  • Place of Presentation: 京都
• [Presentation] T3優位型バセドウ病の治療経験 (2010)
  • Author(s): 三善陽子, 難波範行, 大薗恵一
  • Organizer: 第44回日本小児内分泌学会学術集会
  • Place of Presentation: 大阪
• [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
• [Presentation] Osteoporosis and Partial Lipodystrophy in Two Sibling Patients with Premature Aging Disease, Mandibuloacral Dysplasia (2010)
  • Author(s): Miyoshi Y, Namba N, Ozono K
  • Organizer: ICE2010
  • Place of Presentation: 京都
• [Presentation] アンドロゲン産生副腎皮質腫瘍の摘出術後に中枢性思春期早発症を続発した男児例 (2009)
  • Author(s): 三善陽子, 本間桂子, 長谷川奉延, 笹野公伸, 大薗恵一
  • Organizer: 第82回日本内分泌学会総会
  • Place of Presentation: 群馬
• [Presentation] 副腎白質ジストロフィーの男児9例における臨床経過と副腎機能評価 (2009)
  • Author(s): 三善陽子, 酒井規夫, 橘真紀子, 里龍晴, 木村志保子, 神尾範子, 植田仁, 鈴木保宏, 塩見正司, 大薗恵一
  • Organizer: 第43回日本小児内分泌学会学術集会
  • Place of Presentation: 栃木
• [Presentation] ビスフォスフォネート投与で骨密度の改善がみられた早老症姉妹例
  • Author(s): 中尾紀恵、三善陽子、他７名
  • Organizer: 第22回臨床内分泌代謝Update
  • Place of Presentation: 埼玉
• [Book] 小児消化器疾患:臨床・病理カンファレンス. SGA児の成因と予後 (2012)
  • Author(s): 三善陽子
  • Total Pages: 103
  • Publisher: 診断と治療社
• [Book] 小児消化器疾患:臨床・病理カンファレンス.乳児持続性高インスリン性低血糖症 (2012)
  • Author(s): 位田忍,窪田昭男,中山雅弘,三善陽子,惠谷ゆり
  • Publisher: 診断と治療社
• [Book] 小児疾患の診断治療基準 第4版:栄養・栄養性疾患 やせ (2012)
  • Author(s): 橘真紀子,三善陽子
  • Publisher: 東京医学社
• [Book] 小児の発熱A to Z:診断・治療のpitfallsー第9 章非感染性疾患:5.内分泌 (2012)
  • Author(s): 三善陽子,大薗恵一
  • Publisher: 診断と治療社
• [Book] 新領域別症候群シリーズ:腎臓症候群 第2版 先天性・遺伝性腎疾患:Frasier 症候群 (2012)
  • Author(s): 三善陽子,大薗恵一
  • Publisher: 日本臨床社
• [Book] ナースの小児科学:改訂第5版、第6章保健 (2011)
  • Author(s): 三善陽子,大薗恵一
  • Publisher: 中外医学社
• [Book] 小児臨床栄養学:第9 章栄養指導:小児科医 (2011)
  • Author(s): 橘真紀子,三善陽子
  • Publisher: 診断と治療社
• [Book] ナースの小児科学改訂5版 (2011)
  • Author(s): 三善陽子・大薗恵一
  • Total Pages: 498
  • Publisher: 中外医学社
• [Book] 小児臨床栄養学 第9章(栄養指導の実際:B節 小児科医) (2011)
  • Author(s): 橘真紀子, 三善陽子
  • Publisher: 診断と治療社
• [Book] 最新成長障害の診かたと対応:小児がん経験者と晩期内分泌障害,小児内科 (2010)
  • Author(s): 三善陽子,大薗恵一
  • Publisher: 東京医学社
• [Book] ココからはじめる小児がん看護:治療による障害(急性期)の理解と対応 (2009)
  • Author(s): 三善陽子,大薗恵一
  • Publisher: へるす出版