All Outputs (2)

Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome (2013)
Journal Article
Wheway, G., Abdelhamed, Z., Natarajan, S., Toomes, C., Inglehearn, C., & Johnson, C. A. (2013). Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome. Developmental Biology, 377(1), 55-66. https://doi.org/10.1016/j.ydbio.2013.02.015

Meckel-Gruber syndrome (MKS) is an embryonic lethal ciliopathy resulting from mutations in genes encoding proteins localising to the primary cilium. Mutations in the basal body protein MKS1 account for 7% of cases of MKS. The condition affects the de... Read More about Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome.

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 (2013)
Journal Article
Abdelhamed, Z. A., Wheway, G., Szymanska, K., Natarajan, S., Toomes, C., Inglehearn, C., & Johnson, C. A. (2013). 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. Human Molecular Genetics, 22(7), 1358-1372. https://doi.org/10.1093/hmg/dds546

The ciliopathies are a group of heterogeneous diseases with considerable variations in phenotype for allelic conditions such as Meckel-Gruber syndrome (MKS) and Joubert syndrome (JBTS) even at the inter-individual level within families. In humans, mu... Read More about 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.