Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome

Joubert syndrome (JS) and Meckel syndrome (MKS) are pleiotropic ciliopathies characterized by severe defects of the cerebellar vermis, ranging from hypoplasia to aplasia. Interestingly, ciliary conditional mutant mice have a hypoplastic cerebellum in which the proliferation of cerebellar granule cel...

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Hlavní autoři: Aguilar, Andrea, Meunier, Alice, Strehl, Laetitia, Martinovic, Jelena, Bonniere, Maryse, Attie-Bitach, Tania, Encha-Razavi, Féréchté, Spassky, Nathalie
Médium: Artigo
Jazyk:Inglês
Vydáno: National Academy of Sciences 2012
Témata:
Biological Sciences
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3479472/
https://ncbi.nlm.nih.gov/pubmed/23027964
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1201408109
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