Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel–Gruber syndrome
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Developmental Biology,Molecular Biology
Reference54 articles.
1. Abdelhamed, Z., Wheway, G., Szymanska, K., Natarajan, S., Toomes, C., Inglehearn, C., Johnson, C.A. Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects. Hum. Mol. Genet. doi:10.1093/hmg/dds546, in press.
2. Recent advances in the molecular pathology, cell biology and genetics of ciliopathies;Adams;J. Med. Genet.,2008
3. A distinctive triad of malformations of the central-nervous-system in the Meckel–Gruber syndrome;Ahdabbarmada;J. Neuropathol. Exp. Neurol.,1990
4. A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel–Gruber syndrome;Auber;Clin. Genet.,2007
5. The Meckel–Gruber syndrome gene, MKS3, is mutated in Joubert syndrome;Baala;Am. J. Hum. Genet.,2007
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