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删除Fgfr3增强剂显著改善了所有骨特征,在一个小鼠模型的骨质增生不全症

Marco Angelozzi, Arnaud Molin, Anirudha Karvande

    The Journal of clinical investigation
    |January 16, 2025
    PubMed
    概括

    在小鼠中,对一种新型FGFR3增强剂的基因向显著改善了无形质症的症状,为这种普遍存在的矮身障碍提供了潜在的新基因疗法.

    关键词:
    骨生物学 骨生物学骨疾病是一种骨疾病.软骨和软骨是一种遗传学 是一个遗传学.鼠标模型 鼠标模型

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    Lethal Alleles02:41

    Lethal Alleles

    Agouti: A Lethal Allele
    Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...