All Outputs (5)

The role of primary cilia in the development and disease of the retina (2013)
Journal Article
Parry, D. A., Johnson, C. A., Wheway, G., Parry, D. A., & Johnson, C. A. (2014). The role of primary cilia in the development and disease of the retina. Organogenesis, 10(1), 69-85. https://doi.org/10.4161/org.26710

The normal development and function of photoreceptors is essential for eye health and visual acuity in vertebrates. Mutations in genes encoding proteins involved in photoreceptor development and function are associated with a suite of inherited retin... Read More about The role of primary cilia in the development and disease of the retina.

The SYSCILIA gold standard (SCGSv1) of known ciliary components and its applications within a systems biology consortium (2013)
Journal Article
Giles, R. H., Slaats, G. G., Van Dam, T. J., Huynen, M. A., van Dam, T. J., Wheway, G., …Giles, R. H. (2013). The SYSCILIA gold standard (SCGSv1) of known ciliary components and its applications within a systems biology consortium. Cilia, 2(1), 7. https://doi.org/10.1186/2046-2530-2-7

The multinational SYSCILIA consortium aims to gain a mechanistic understanding of the cilium. We utilize multiple parallel high-throughput (HTP) initiatives to develop predictive models of relationships between complex genotypes and variable phenotyp... Read More about The SYSCILIA gold standard (SCGSv1) of known ciliary components and its applications within a systems biology consortium.

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.

Meckel-Gruber syndrome (2013)
Book Chapter
Wheway, G., & Johnson, C. A. (2013). Meckel-Gruber syndrome. In T. D. Kenny, & P. L. Beales (Eds.), Ciliopathies - A Reference for Clinicians (132-149). Oxford University Press

Epidemiology, Clinical features, Range of the phenotype, Diagnosis, Interesring features of the condition, Genetics, Underlying ciliary defect, Physiological effect of the ciliary defect, Clinical management