Genesis 2021 Feb 01;591-2:e23404. doi: 10.1002/dvg.23404.

Using Xenopus to analyze neurocristopathies like Kabuki syndrome.

???displayArticle.abstract???
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.

???displayArticle.pubmedLink??? 33351273
???displayArticle.link??? Genesis
???displayArticle.grants??? [+]

Species referenced: Xenopus tropicalis Xenopus laevis
Genes referenced: chd7 col2a1 kdm6a kmt2d npb pax3 snai1 snai2 sox10 sox9 twist1

???displayArticle.disOnts??? CHARGE syndrome [+]
???displayArticle.omims??? KABUKI SYNDROME 1; KABUK1 [+]

???attribute.lit??? ???displayArticles.show???