文献

J-GLOBAL ID：201702230488636707   整理番号：17A0872361

Prader-Willi症候群患者由来の誘導性多機能性幹細胞における15q11.2領域の完全なメチル化状態の可変性

Changeability of the fully methylated status of the 15q11.2 region in induced pluripotent stem cells derived from a patient with Prader-Willi syndrome

著者 (11件)： Okuno Hironobu (Department of Physiology, Keio University School of Medicine, Tokyo, Japan) ,  Nakabayashi Kazuhiko (Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan) ,  Abe Kousei (Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan) ,  Ando Takayuki (Department of Physiology, Keio University School of Medicine, Tokyo, Japan) ,  Sanosaka Tsukasa (Department of Physiology, Keio University School of Medicine, Tokyo, Japan) ,  Kohyama Jun (Department of Physiology, Keio University School of Medicine, Tokyo, Japan) ,  Akamatsu Wado (Center for Genomic and Regenerative Medicine, Juntendo University School of Medicine, Tokyo, Japan) ,  Ohyama Manabu (Department of Dermatology, Kyorin University School of Medicine, Tokyo, Japan) ,  Takahashi Takao (Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan) ,  Kosaki Kenjiro (Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan) ,  Okano Hideyuki (Department of Physiology, Keio University School of Medicine, Tokyo, Japan)
資料名： Congenital Anomalies (Web)  (Congenital Anomalies (Web))
巻： 57  号： 4  ページ： 96-103  発行年： 2017年 
JST資料番号： U0506A  ISSN： 1741-4520  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： アメリカ合衆国 (USA)  言語： 英語 (EN)

抄録/ポイント： Prader-Willi症候群(PWS)は,視床下部の機能不...

シソーラス用語： *奇形 ,...
準シソーラス用語： 15q11.2染色体 ,...

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著者キーワード (5件)： cell-based therapy ,  differential methylated regions ,  imprinting disorders ,  induced pluripotent stem cells ,  Prader-Willi syndrome

分類 (2件)： 先天性疾患・奇形一般  (GD03010V) ,  分子遺伝学一般  (EC02010J)

引用文献 (31件)：

• Bock C, Kiskinis E, Verstappen G et al. 2011. Reference Maps of human ES and iPS cell variation enable high-throughput characterization of pluripotent cell lines. Cell 144:439-452.
• Burnett LC, Leduc CA, Sulsona CR et al. 2016. Induced pluripotent stem cells (iPSC) created from skin fibroblasts of patients with Prader-Willi syndrome (PWS) retain the molecular signature of PWS. Stem Cell Res 17:526-530.
• Chamberlain SJ, Chen PF, Ng KY et al. 2010. Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes. Proc Natl Acad Sci U S A 107:17668-17673.
• Chin MH, Mason MJ, Xie W et al. 2009. Induced pluripotent stem cells and embryonic stem cells are distinguished by gene expression signatures. Cell Stem Cell 5:111-123.
• Court F, Tayama C, Romanelli V et al. 2014. Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment. Genome Res 24:554-569.

タイトルに関連する用語 (6件)： Prader-Willi症候群 ,  患者 ,  多機能性 ,  幹細胞 ,  メチル化 ,  可変性