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Translational research of C-type natriuretic peptide (CNP) into skeletal dysplasias

机译:C型利钠肽(CNP)转化为骨骼发育不良的研究

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References(51) Cited-By(16) By using transgenic and knockout mice, we have elucidated that C-type natriuretic peptide (CNP) is a potent stimulator of endochondral bone growth. In humans, loss-of-function mutations in the gene coding for guanylyl cyclase-B (GC-B), the specific receptor for CNP, have been proved to be the cause of acromesomelic dysplasia, type Maroteaux, one form of human skeletal dysplasias. Following these results, we have started to translate the stimulatory effect of CNP on endochondral bone growth into the therapy for patients with skeletal dysplasias. We have shown that targeted overexpression of CNP in cartilage or systemic administration of CNP reverses the impaired skeletal growth of mice model of achondroplasia, the most common form of human skeletal dysplasias.
机译:参考文献(51)Cited-By(16)通过使用转基因和基因敲除小鼠,我们阐明了C型利钠肽(CNP)是软骨内骨生长的有效刺激剂。在人类中,已证明CNP的特异性受体鸟苷酰环化酶B(GC-B)编码基因中的功能丧失突变是引起顶体发育异常的原因,Maroteaux型是人骨骼发育不良的一种形式。 。根据这些结果,我们已经开始将CNP对软骨内骨生长的刺激作用转化为骨骼发育不良患者的治疗方法。我们已经表明,在软骨或CNP全身给药中靶向CNP的过度表达可逆转软骨发育不良的小鼠骨骼生长受损,软骨发育不良是人类骨骼发育不良的最常见形式。

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