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

SUMMARY 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 (Mks1del64-323) that caused a 260-amino-acid deletion spanning nine amino acids in...

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Main Authors: Cheng Cui, Bishwanath Chatterjee, Deanne Francis, Qing Yu, Jovenal T. SanAgustin, Richard Francis, Terry Tansey, Charisse Henry, Baolin Wang, Bethan Lemley, Gregory J. Pazour, Cecilia W. Lo
Formato: Artigo
Idioma:Inglês
Publicado em: The Company of Biologists 2011-01-01
Colecção:Disease Models & Mechanisms
Acesso em linha:http://dmm.biologists.org/content/4/1/43
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