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  Mutations in the RUNX2 gene in patients with cleidocranial dysplasia

Otto, F., Kanegane, H., & Mundlos, S. (2002). Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Human Mutation, 19(3), 209-216.

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アイテムのパーマリンク: http://hdl.handle.net/11858/00-001M-0000-0010-8C52-2 版のパーマリンク: http://hdl.handle.net/11858/00-001M-0000-0010-8C53-F
資料種別: 学術論文

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 作成者:
Otto, Florian, 著者
Kanegane, Hirokazu, 著者
Mundlos, Stefan1, 著者              
所属:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

内容説明

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キーワード: cleidocranial dysplasia; CCD; transcription factor; core binding factor; runt domain; RUNX2; CBFA1; differentiation; osteoblast
 要旨: Cleidocranial dysplasia (CCD) is a autosomal dominant disorder characterized by skeletal anomalies such as patent fontanels, late closure of cranial sutures with Wormian bones, late erupting secondary dentition, rudimentary clavicles, and short stature. The locus for this disease was mapped to chromosome 6p21. RUNX2 is a member of the runt family of transcription factors and its expression is restricted to developing osteoblasts and a subset of chondrocytes. Mutations in the RUNX2 gene have been shown to cause CCD. Chromosomal translocations, deletions, insertions, nonsense and splice-site mutations, as well as missense mutations of the RUNX2 gene have been described in CCD patients. Although there is a wide spectrum in phenotypic variability ranging from primary dental anomalies to all CCD features plus osteoporosis, no clear phenotype-genotype correlation has been established. However analysis of the three-dimensional structure of the DNA binding runt domain of the RUNX proteins and its interaction with DNA, as well as the cofactor CBFB, start to provide an insight into how missense mutations affect RUNX2 function.

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言語: eng - 英語
 日付: 2002-02-13
 出版の状態: 紙媒体で出版済み
 ページ: -
 出版情報: -
 目次: -
 査読: -
 識別子(DOI, ISBNなど): eDoc: 25647
 学位: -

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出版物 1

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出版物名: Human Mutation
種別: 学術雑誌
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出版社, 出版地: -
ページ: - 巻号: 19 (3) 通巻号: - 開始・終了ページ: 209 - 216 識別子(ISBN, ISSN, DOIなど): -