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  • Title: [Genetic basis for skeletal disease. CNP therapy for achondroplasia].
    Author: Yasoda A, Nakao K.
    Journal: Clin Calcium; 2010 Aug; 20(8):1212-8. PubMed ID: 20675932.
    Abstract:
    By using transgenic and knockout mice, we have elucidated that C-type natriuretic peptide (CNP) is a potent stimulator of endochondral bone growth. Furthermore, loss-of-function mutations in the gene coding for guanylyl cyclase-B (GC-B) , the specific receptor for CNP, have been proved to cause impaired skeletal growth in humans. Following these results, we have started to translate the stimulatory effect of CNP on endochondral bone growth into the therapy for patients with achondroplasia, and have shown that targeted overexpression of CNP in cartilage or systemic administration of CNP reverses the impaired skeletal growth of mice model of achondroplasia.
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