Neurocristopathies are human congenital syndromes that arise from defects in neural crest (NC) development and are typically associated with malformations of the craniofacial skeleton. Genetic analyses have been very successful in identifying pathogenic mutations, however, model organisms are required to characterize how these mutations affect embryonic development thereby leading to complex clinical conditions. The African clawed frog Xenopus laevis provides a broad range of in vivo and in vitro tools allowing for a detailed characterization of NC development. Due to the conserved nature of craniofacial morphogenesis in vertebrates, Xenopus is an efficient and versatile system to dissect the morphological and cellular phenotypes as well as the signaling events leading to NC defects. Here, we review a set of techniques and resources how Xenopus can be used as a disease model to investigate the pathogenesis of Kabuki syndrome and neurocristopathies in a wider sense.

中文翻译：

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使用非洲爪蟾分析歌舞伎综合征等神经嵴病

神经嵴是由神经嵴 (NC) 发育缺陷引起的人类先天性综合征，通常与颅面骨骼畸形有关。遗传分析在识别致病突变方面非常成功，但是，需要模型生物来表征这些突变如何影响胚胎发育，从而导致复杂的临床状况。非洲爪蛙Xenopus laevis提供了广泛的体内和体外工具，可以详细描述 NC 的发展。由于脊椎动物颅面形态发生的保守性，非洲爪蟾是一种高效且通用的系统，用于剖析形态学和细胞表型以及导致 NC 缺陷的信号事件。在这里，我们回顾了一组技术和资源，如何将非洲爪蟾用作疾病模型，以在更广泛的意义上研究 Kabuki 综合征和神经嵴病的发病机制。