Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome

Meckel-Gruber syndrome (MKS) is a recessive disorder resulting in multiple birth defects that are associated with mutations affecting ciliogenesis. We recovered a mouse mutant with a mutation in the Mks1 gene (Mks1(del64-323)) that caused a 260-amino-acid deletion spanning nine amino acids in the B9...

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Autors principals: Cui, Cheng, Chatterjee, Bishwanath, Francis, Deanne, Yu, Qing, SanAgustin, Jovenal T., Francis, Richard, Tansey, Terry, Henry, Charisse, Wang, Baolin, Lemley, Bethan, Pazour, Gregory J., Lo, Cecilia W.
Format: Artigo
Idioma:Inglês
Publicat: The Company of Biologists Limited 2011
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3008963/
https://ncbi.nlm.nih.gov/pubmed/21045211
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.006262
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