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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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Aguilar, Andrea, Meunier, Alice, Strehl, Laetitia, Martinovic, Jelena, Bonniere, Maryse, Attie-Bitach, Tania, Encha-Razavi, Féréchté, Spassky, Nathalie
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: National Academy of Sciences 2012
Gaiak:
Biological Sciences
Sarrera elektronikoa: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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