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Functional analysis of hmx-1 gene in the developing embryo

Functional analysis of hmx-1 gene in the developing embryo
发育胚胎中hmx-1基因的功能分析
批准号:
11672252
负责人:
YOSHIURA Koh-ichiro
金额:
$1.98万
依托单位国家:
日本
项目类别:
Grant-in-Aid for Scientific Research (C)
财政年份:
1999
资助国家:
日本
项目状态:
已结题
起止时间:
1999 至 2000

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YOSHIURA Koh-ichiro的其他基金

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中文摘要
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英文摘要
The three genes of the murine Hmx family, designated Hmx1, Hmx2, and Hmx3, are expressed in the sensory nerve and uterus that suggest a functional role in development of those organs and/or pregnancy. The Hmx3 knockout mice, as suspected by the expressed region, show abnormal structure of inner ear and implantation defect in homozygote mice. To analyze the function of Hmx1 gene in the organ development and pregnancy, we adopted the homologous recombination technique. Homozygous targeted disruption of Hmx1 gene result in lethality at embryonic day 6-7 in intercross of F1 (129/Sv : C57BL/6) heterozygote. But this lethality is rescued in F2 or F3 intercross. This phenomenon suggest that rescue gene may exist in C57BL/6 mice genome. In the present state, however, it is unclear whether the genotype of mother or embryo could rescue the lethal phenotye. Once homozygote mice develop beyond the E5-E7 critical date, they are completely normal even in the tissues in which Hmx1 is expressed.
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Yamada K.: "An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12."Europian Journal of Human Genetics. 8. 535-539 (2000)
Yamada K.:“常染色体显性后极白内障基因座映射到人类染色体 20p12-q12。”《欧洲人类遗传学杂志》。
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吉浦孝一郎: "骨系統疾患責任遺伝子"関節外科 ―基礎と臨床―. 18. 104-105 (1999)
吉浦晃一郎:“导致骨系统疾病的基因”关节外科 - 基础和临床实践 - 18。 104-105 (1999)。
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Kinoshita A.: "Domain specific mutations in the human transforming growth factor beta 1 gene (TGFB1) result in Camurati-Engelmann disease."Nature Genetics. 26. 19-20 (2000)
Kinoshita A.:“人类转化生长因子β1基因(TGFB1)的域特异性突变导致卡穆拉蒂-恩格尔曼病。”《自然遗传学》。
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通讯作者:
Machida J., Yoshiura K., Funkhauser C.D., Natsume N., Kawai T., and Murray J.C.: "Transforming growth factor-α (TGFA) : genomic structure, boundary sequence, and mutation analysis in nonsysdromic cleft lip/palate and cleft palate only."Genomics. 61. 237-2
Machida J.、Yoshiura K.、Funkhauser C.D.、Natsume N.、Kawai T. 和 Murray J.C.:“转化生长因子-α (TGFA):非综合征性唇裂/腭裂和裂隙的基因组结构、边界序列和突变分析仅上颚。”基因组学。61. 237-2
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12
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    • 批准号:
      16H05159
    • 项目类别:
      Grant-in-Aid for Scientific Research (B)
    • 资助金额:
      $11.23万
    • 财政年份:
      2016
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      25293084
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      Grant-in-Aid for Scientific Research (B)
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      $11.07万
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      2013
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    • 批准号:
      25550033
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      Grant-in-Aid for Challenging Exploratory Research
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      $2.58万
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      2013
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