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METHODS AND COMPOSITIONS FOR TREATING CORNELIA DE LANGE SYNDROME

机译:治疗Cornelia de Lange综合症的方法和成分

摘要

Disclosed are methods and compositions for treating subjects with Cornelia de Lange Syndrome (CdLS). Specifically disclosed are methods for using Indomethacin or Acemetacin to treat subjects with CdLS. Also disclosed are methods for identifying compounds beneficial for the treatment of CdLS using an assay based on the expression of NIPBL or NIPBL homologous or orthologous genes. Also disclosed is a method of identifying compounds beneficial for the treatment of CdLS based on administering a test compound to Drosophila lava with reduced expression of Nipbl, and determining the normalization of CdLS phenotypes.
机译:公开了用于治疗Cornelia de Lange综合症(CdLS)的对象的方法和组合物。具体公开了使用吲哚美辛或阿米他星治疗CdLS的对象的方法。还公开了使用基于NIPBL或NIPBL同源或直系同源基因表达的测定法鉴定有益于治疗CdLS的化合物的方法。还公开了一种方法,该方法基于对Nipb1表达降低的果蝇熔岩施用测试化合物并确定CdLS表型的标准化,从而鉴定对CdLS的治疗有益的化合物。

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