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ニイミ テルユキ
NIIMI Teruyuki
新美 照幸 所属 歯学部 口腔先天異常学研究室 職種 准教授 |
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| 言語種別 | 英語 |
| 発行・発表の年月 | 2009/02 |
| 形態種別 | 学術雑誌 |
| 査読 | 査読あり |
| 標題 | Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. |
| 執筆形態 | 共著 |
| 掲載誌名 | Am J Hum Genet. |
| 巻・号・頁 | 84(3),pp.406-411 |
| 著者・共著者 | Suzuki S, Marazita ML, Cooper ME, Miwa N, Hing A, Jugessur A, Natsume N, Shimozato K, Ohbayashi N, Suzuki Y, Niimi T, Minami K, Yamamoto M, Altannamar TJ, Erkhembaatar T, Furukawa H, Daack-Hirsch S, L'heureux J, Brandon CA, Weinberg SM, Neiswanger K, Deleyiannis FW, de Salamanca JE, Vieira AR, Lidral AC, Martin JF, Murray JC |
| 概要 | Cleft lip with or without cleft palate (CL/P) is a complex trait with evidence that the clinical spectrum includes both microform and subepithelial lip defects. We identified missense and nonsense mutations in the BMP4 gene in 1 of 30 cases of microform clefts, 2 of 87 cases with subepithelial defects in the orbicularis oris muscle (OOM), 5 of 968 cases of overt CL/P, and 0 of 529 controls. These results provide confirmation that microforms and subepithelial OOM defects are part of the spectrum of CL/P and should be considered during clinical evaluation of families with clefts. Furthermore, we suggest a role for BMP4 in wound healing. |