文献

J-GLOBAL ID：201702217511357961   整理番号：17A0632393

鎖骨頭蓋骨異形成症の日本人患者におけるrunt不ドメインでの新しいRUNX2/CBFA1変異

Novel RUNX2/CBFA1 mutation in the runt domain in a Japanese patient with cleidocranial dysplasia

著者 (17件)： Goto Hiroki (Department of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan) ,  Goto Hiroki (Department of Perinatology, Institute for Developmental Research, Aichi-Human Service Center, Kasugai, Japan) ,  Machida Junichiro (Department of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan) ,  Machida Junichiro (Department of Oral and Maxillofacial Surgery, Toyota Memorial Hospital, Toyota, Japan) ,  Shibata Akio (Department of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan) ,  Shibata Akio (Department of Dentistry, Oral and Maxillofacial Surgery, Ogaki Municipal Hospital, Ogaki, Gifu, Japan) ,  Tatematsu Tadashi (Department of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan) ,  Tatematsu Tadashi (Department of Perinatology, Institute for Developmental Research, Aichi-Human Service Center, Kasugai, Japan) ,  Osumi Eriko (Department of Oral and Maxillofacial Surgery, Okazaki City Hospital, Okazaki, Japan) ,  Miyachi Hitoshi (Department of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan) ,  Takahashi Katsu (Department of Oral and Maxillofacial Surgery, School of Medicine, Kyoto University, Kyoto, Japan) ,  Nakayama Atsuo (Department of Embryology, Institute for Developmental Research, Aichi-Human Service Center, Kasugai, Japan) ,  Higashi Yujiro (Department of Perinatology, Institute for Developmental Research, Aichi-Human Service Center, Kasugai, Japan) ,  Nagao Toru (Department of Oral and Maxillofacial Surgery, Okazaki City Hospital, Okazaki, Japan) ,  Shimozato Kazuo (Department of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan) ,  Tokita Yoshihito (Department of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan) ,  Tokita Yoshihito (Department of Perinatology, Institute for Developmental Research, Aichi-Human Service Center, Kasugai, Japan)
資料名： Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology (Web)  (Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology (Web))
巻： 29  号： 3  ページ： 222-224  発行年： 2017年 
JST資料番号： U0704A  ISSN： 2212-5558  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： オランダ (NLD)  言語： 英語 (EN)

抄録/ポイント： 鎖骨頭蓋骨異形成症(CCD;MIM 119600)は,短い身...

シソーラス用語： *遺伝病 ,...
準シソーラス用語： *鎖骨頭蓋骨異形成症 ,...

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著者キーワード (3件)： Cbfa1 ,  PEBP2A PEBP2B ,  AML3

分類 (2件)： 運動器系の基礎医学  (GG01020B) ,  分子遺伝学一般  (EC02010J)

引用文献 (12件)：

• Otto F, Thornell AP, Crompton T, Denzel A, Gilmour KC, Rosewell IR, et al. Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development. Cell 1997;89:765-71.
• Otto F, Kanegane H, Mundlos S. Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Hum Mutat 2002;19:209-16.
• Tahirov TH, Inoue-Bungo T, Morii H, Fujikawa A, Sasaki M, Kimura K, et al. Structural analyses of DNA recognition by the AML1/Runx-1 Runt domain and its allosteric control by CBFbeta. Cell 2001;104:755-67.
• Shibata A, Machida J, Yamaguchi S, Kimura M, Tatematsu T, Miyachi H, et al. Characterisation of novel RUNX2 mutation with alanine tract expansion from Japanese cleidocranial dysplasia patient. Mutagenesis 2016;31:61-7.
• Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S, et al. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 1997;89:773-9.

タイトルに関連する用語 (7件)： 鎖骨頭蓋骨異形成症 ,  日本人 ,  患者 ,  ドメイン ,  Runx2 ,  Cbfa1 ,  変異