『徳島大学 教育・研究者情報データベース (EDB)』---[学外] /
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種別 (必須): 学術論文 (審査論文) [継承]
言語 (必須): 英語 [継承]
招待 (推奨):
審査 (推奨):
カテゴリ (推奨):
共著種別 (推奨):
学究種別 (推奨):
組織 (推奨):
著者 (必須): 1. (英) TSUTSUMI SATOSHI (日) (読)
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2. (英) KAMATA NOBUYUKI (日) (読)
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3. (英) MARUOKA YUTAKA (日) (読)
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4. (英) ANDO MIKI (日) (読)
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5. (英) TEZUKA OSAMU (日) (読)
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6. (英) ENOMOTO SHOJI (日) (読)
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7. (英) OMURA KEN (日) (読)
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8.長山 勝
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9.工藤 英治
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10. (英) MORITANI MAKI (日) (読)
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11. (英) YAMAOKA TAKASHI (日) (読)
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12.板倉 光夫
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題名 (必須): (英) Autosomal Dominant Gnathodiaphyseal Dysplasia Maps to Chromosome 11p14.3-15.1  (日)    [継承]
副題 (任意):
要約 (任意): (英) Gnathodiaphyseal dysplasia (GDD) is a syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of jawbones. Although some cases of this syndrome exist in families with autosomal dominant inheritance, the underlying gene has never been identified. We analyzed a large four-generation family with GDD by linkage analysis using genomic DNA from nine affected and six nonaffected family members. A genome-wide search using a set of highly polymorphic microsatellite markers showed evidence for linkage to chromosome 11p14.3-15.1. Two-point linkage analysis of microsatellite markers spanning this locus resulted in a maximum logarithm of odds (LOD) score of 2.70 with a recombination fraction (theta) of 0 at D11S1755, D11S1759, and D11S915, and a maximum LOD score of 3.01 at D11S4114 was obtained in multipoint linkage analysis. Haplotype analysis detected no recombination between GDD and six closely linked markers (D11S928, D11S1755, D11S4114, D11S1759, D11S915, and D11S929) and established the candidate interval of 8.7 cM on chromosome 11p for GDD. Although GDD has been considered to be a variation of osteogenesis imperfecta (MIM 166260), our results indicate that this syndrome is a new and distinct disease entity from other systemic bone diseases. Furthermore, these genetic markers are useful for presymptomatic diagnosis of GDD in some families and for identification of the GDD gene.  (日)    [継承]
キーワード (推奨): 1. (英) gnathodiaphyseal dysplasia (日) (読) [継承]
2. (英) autosomal dominant inheritance (日) (読) [継承]
3. (英) linkage analysis (日) (読) [継承]
4. (英) cemento-osseous lesions (日) (読) [継承]
5. (英) osteogenesis imperfecta (日) (読) [継承]
発行所 (推奨):
誌名 (必須): Journal of Bone and Mineral Research ([米国骨代謝学会])
(pISSN: 0884-0431, eISSN: 1523-4681)

ISSN (任意): 0884-0431
ISSN: 0884-0431 (pISSN: 0884-0431, eISSN: 1523-4681)
Title: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Title(ISO): J Bone Miner Res
Supplier: American Society for Bone and Mineral Research
Publisher: Wiley
 (NLM Catalog  (Wiley  (Scopus  (CrossRef (Scopus information is found. [need login])
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(必須): 413 418 [継承]
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年月日 (必須): 西暦 2003年 3月 初日 (平成 15年 3月 初日) [継承]
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DOI (任意): 10.1359/jbmr.2003.18.3.413    (→Scopusで検索) [継承]
PMID (任意): 12619924    (→Scopusで検索) [継承]
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WOS (任意): 000181178400004 [継承]
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備考 (任意): 1.(英) Article.Affiliation: First Department of Oral and Maxillofacial Surgery, School of Dentistry, The University of Tokushima, Tokushima, Japan.  (日)    [継承]
2.(英) Article.PublicationTypeList.PublicationType: Journal Article  (日)    [継承]
3.(英) Article.PublicationTypeList.PublicationType: Research Support, Non-U.S. Gov't  (日)    [継承]

標準的な表示

和文冊子 ● SATOSHI TSUTSUMI, NOBUYUKI KAMATA, YUTAKA MARUOKA, MIKI ANDO, OSAMU TEZUKA, SHOJI ENOMOTO, KEN OMURA, Masaru Nagayama, Eiji Kudo, MAKI MORITANI, TAKASHI YAMAOKA and Mitsuo Itakura : Autosomal Dominant Gnathodiaphyseal Dysplasia Maps to Chromosome 11p14.3-15.1, Journal of Bone and Mineral Research, Vol.18, No.3, 413-418, 2003.
欧文冊子 ● SATOSHI TSUTSUMI, NOBUYUKI KAMATA, YUTAKA MARUOKA, MIKI ANDO, OSAMU TEZUKA, SHOJI ENOMOTO, KEN OMURA, Masaru Nagayama, Eiji Kudo, MAKI MORITANI, TAKASHI YAMAOKA and Mitsuo Itakura : Autosomal Dominant Gnathodiaphyseal Dysplasia Maps to Chromosome 11p14.3-15.1, Journal of Bone and Mineral Research, Vol.18, No.3, 413-418, 2003.

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