All Outputs (20)

WT1 activates transcription of the splice factor kinase SRPK1 gene in PC3 and K562 cancer cells in the absence of corepressor BASP1 (2020)
Journal Article
Belali, T., Wodi, C., Clark, B., Cheung, M. K., Craig, T. J., Wheway, G., …Ladomery, M. (2020). WT1 activates transcription of the splice factor kinase SRPK1 gene in PC3 and K562 cancer cells in the absence of corepressor BASP1. BBA - Gene Regulatory Mechanisms, 1863(12), Article 194642. https://doi.org/10.1016/j.bbagrm.2020.194642

Dysregulated alternative splicing plays a prominent role in all hallmarks of cancer. The splice factor kinase SRPK1 drives the activity of oncogenic splice factors such as SRSF1. SRSF1 in turn promotes the expression of splice isoforms that favour tu... Read More about WT1 activates transcription of the splice factor kinase SRPK1 gene in PC3 and K562 cancer cells in the absence of corepressor BASP1.

Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy (2020)
Journal Article
Wheway, G., Douglas, A., Baralle, D., & Guillot, E. (2020). Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy. Experimental Eye Research, 192, Article 107950. https://doi.org/10.1016/j.exer.2020.107950

Pathogenic variants in pre-messenger RNA (pre-mRNA) splicing factor 31, PRPF31, are the second most common genetic cause of autosomal dominant retinitis pigmentosa (adRP) in most populations. This remains a completely untreatable and incurable form o... Read More about Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.

Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa (2018)
Journal Article
Buskin, A., Zhu, L., Chichagova, V., Basu, B., Mozaffari-Jovin, S., Dolan, D., …Lako, M. (2018). Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa. Nature Communications, 9(1), 4234. https://doi.org/10.1038/s41467-018-06448-y

© 2018, The Author(s). Mutations in pre-mRNA processing factors (PRPFs) cause autosomal-dominant retinitis pigmentosa (RP), but it is unclear why mutations in ubiquitously expressed genes cause non-syndromic retinal disease. Here, we generate transcr... Read More about Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa.

Development and biological evaluation of fluorophosphonate-modified hydroxyapatite for orthopaedic applications (2018)
Journal Article
Neary, G., Blom, A. W., Shiel, A. I., Wheway, G., & Mansell, J. P. (2018). Development and biological evaluation of fluorophosphonate-modified hydroxyapatite for orthopaedic applications. Journal of Materials Science: Materials in Medicine, 29(8), https://doi.org/10.1007/s10856-018-6130-9

© 2018, Springer Science+Business Media, LLC, part of Springer Nature. Abstract: There is an incentive to functionalise hydroxyapatite (HA) for orthopaedic implant use with bioactive agents to encourage superior integration of the implants into host... Read More about Development and biological evaluation of fluorophosphonate-modified hydroxyapatite for orthopaedic applications.

Particle sorting by Paramecium cilia arrays (2017)
Journal Article
Whiting, J. G., Mayne, R., Wheway, G., Melhuish, C., & Adamatzky, A. (2017). Particle sorting by Paramecium cilia arrays. BioSystems, 156-157, 46-52. https://doi.org/10.1016/j.biosystems.2017.04.001

© 2017 Elsevier B.V. Motile cilia are cell-surface organelles whose purposes, in ciliated protists and certain ciliated metazoan epithelia, include generating fluid flow, sensing and substance uptake. Certain properties of cilia arrays, such as beati... Read More about Particle sorting by Paramecium cilia arrays.

A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes (2015)
Journal Article
Nguyen, T. M., Wheway, G., Szymanska, K., Wheway, G., Doherty, D., Schmidts, M., …Johnson, C. (2015). A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes. Cilia, 4(SUPPLEMENT 1), O12. https://doi.org/10.1186/2046-2530-4-S1-O12

Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe the first whole genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of the primary cilium, obtaining... Read More about A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes.

The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway (2015)
Journal Article
Abdelhamed, Z. A., Natarajan, S., Wheway, G., Inglehearn, C. F., Toomes, C., Johnson, C. A., & Jagger, D. J. (2015). The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway. Disease Models and Mechanisms, 8(6), 527-541. https://doi.org/10.1242/dmm.019083

© 2015. Published by The Company of Biologists Ltd. Ciliopathies are a group of developmental disorders that manifest with multi-organ anomalies. Mutations in TMEM67 (MKS3) cause a range of human ciliopathies, including Meckel-Gruber and Joubert synd... Read More about The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway.

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes (2015)
Journal Article
Van Dam, T. J., Letteboer, S. J., Nguyen, T. M. T., Wheway, G., Schmidts, M., Mans, D. A., …Johnson, C. A. (2015). An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nature Cell Biology, 17(8), 1074-1087. https://doi.org/10.1038/ncb3201

© 2015 Macmillan Publishers Limited. Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of... Read More about An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis (2015)
Journal Article
Ouden, K. D., Van Balkom, B. W., Slaats, G. G., Wheway, G., Foletto, V., Szymanska, K., …Giles, R. H. (2015). Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis. Journal of Cell Science, 128(24), 4550-4559. https://doi.org/10.1242/jcs.176065

©2015. To investigate the contribution of ion channels to ciliogenesis, we carried out a small interfering RNA (siRNA)-based reverse genetics screen of all ion channels in the mouse genome in murine inner medullary collecting duct kidney cells. This... Read More about Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis.

Atmin is a transcriptional regulator of both lung morphogenesis and ciliogenesis (2014)
Journal Article
Stevens, J. L., Goggolidou, P., L. Stevens, J., Agueci, F., Keynton, J., Wheway, G., …Norris, D. P. (2014). Atmin is a transcriptional regulator of both lung morphogenesis and ciliogenesis. Development, 141(20), 3966-3977. https://doi.org/10.1242/dev.107755

© 2014. Initially identified in DNA damage repair, ATM-interactor (ATMIN) further functions as a transcriptional regulator of lung morphogenesis. Here we analyse three mouse mutants, Atmingpg6/gpg6, AtminH210Q/H210Q and Dynll1GT/GT, revealing how ATM... Read More about Atmin is a transcriptional regulator of both lung morphogenesis and ciliogenesis.

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling (2014)
Journal Article
Duchen, M. R., Sewry, C. A., Den Dunnen, J. T., Niks, E. H., Santen, G. W., Morgan, J. E., …Sheridan, E. (2014). Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nature Genetics, 46(2), 188-193. https://doi.org/10.1038/ng.2851

Mitochondrial Ca 2+ uptake has key roles in cell life and death. Physiological Ca 2+ signaling regulates aerobic metabolism, whereas pathological Ca 2+ overload triggers cell death. Mitochondrial Ca 2+ uptake is mediated by the Ca 2+ uniporter comple... Read More about Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.

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.

Human Homolog of Drosophila Ariadne (HHARI) is a marker of cellular proliferation associated with nuclear bodies (2012)
Journal Article
Elmehdawi, F., Wheway, G., Szymanska, K., Adams, M., High, A. S., Johnson, C. A., & Robinson, P. A. (2013). Human Homolog of Drosophila Ariadne (HHARI) is a marker of cellular proliferation associated with nuclear bodies. Experimental Cell Research, 319(3), 161-172. https://doi.org/10.1016/j.yexcr.2012.10.002

HHARI (also known as ARIH1) is an ubiquitin-protein ligase and is the cognate of the E2, UbcH7 (UBE2L3). To establish a functional role for HHARI in cellular proliferation processes, we performed a reverse genetics screen that identified n=86/522 (16... Read More about Human Homolog of Drosophila Ariadne (HHARI) is a marker of cellular proliferation associated with nuclear bodies.

A meckelin-filamin a interaction mediates ciliogenesis (2012)
Journal Article
Adams, M., Simms, R. J., Abdelhamed, Z., Dawe, H. R., Szymanska, K., Logan, C. V., …Johnson, C. A. (2012). A meckelin-filamin a interaction mediates ciliogenesis. Human Molecular Genetics, 21(6), 1272-1286. https://doi.org/10.1093/hmg/ddr557

MKS3, encoding the transmembrane receptor meckelin, is mutated in Meckel-Gruber syndrome (MKS), an autosomal-recessive ciliopathy. Meckelin localizes to the primary cilium, basal body and elsewhere within the cell. Here, we found that the cytoplasmic... Read More about A meckelin-filamin a interaction mediates ciliogenesis.

High throughput high content reverse genetics visual screens of ciliogenesis and cilia maintenance (2012)
Journal Article
Szymanska, K., Wheway, G., Natarajan, S., Higgins, J., Adams, M., Tomlinson, D. C., & Johnson, C. A. (2012). High throughput high content reverse genetics visual screens of ciliogenesis and cilia maintenance. Cilia, 1(S1), P49. https://doi.org/10.1186/2046-2530-1-S1-P49

Cilia are small, hair-like structures occurring on the apical surface of most of vertebrate cells. Defects in cilia cause a range of developmental phenotypes grouped into conditions called ciliopathies. Our aim is to dissect the structure and functio... Read More about High throughput high content reverse genetics visual screens of ciliogenesis and cilia maintenance.

MKS1 interacts with components of the ubiquitin-proteasome pathway to regulate ciliogenesis and multiple signalling pathways (2012)
Journal Article
Wheway, G., Abdelhamed, Z., Natarajan, S., & Johnson, C. A. (2012). MKS1 interacts with components of the ubiquitin-proteasome pathway to regulate ciliogenesis and multiple signalling pathways. Cilia, 1(S1), P108. https://doi.org/10.1186/2046-2530-1-S1-P108

MKS1, a ciliary protein containing a B9 domain of unknown function, plays an important role in ciliogenesis. Mutation of the MKS1 gene causes the neonatal lethal multi-organ developmental condition Meckel-Gruber syndrome, characterized by severe cili... Read More about MKS1 interacts with components of the ubiquitin-proteasome pathway to regulate ciliogenesis and multiple signalling pathways.

Defects in non-canonical Wnt signalling and actin cytoskeleton remodelling as pathogenic mechanisms in Meckel–Gruber syndrome (2010)
Journal Article
Johnson, C. A., Logan, C. V., Wheway, G., Abdelhamed, Z., & Adams, M. (2010). Defects in non-canonical Wnt signalling and actin cytoskeleton remodelling as pathogenic mechanisms in Meckel–Gruber syndrome. International Journal of Developmental Neuroscience, 28(8), 644-645. https://doi.org/10.1016/j.ijdevneu.2010.07.015

Primary cilia are mechano- and chemosensory organelles that have a fundamental role in regulating embryogenesis. Inherited disorders that involve aberrant ciliary structure or function are now known as “ciliopathies”, and they invariably present with... Read More about Defects in non-canonical Wnt signalling and actin cytoskeleton remodelling as pathogenic mechanisms in Meckel–Gruber syndrome.

Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton (2009)
Journal Article
Dawe, H. R., Adams, M., Wheway, G., Szymanska, K., Logan, C. V., Noegel, A. A., …Johnson, C. A. (2009). Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton. Journal of Cell Science, 122(15), 2716-2726. https://doi.org/10.1242/jcs.043794

Meckel-Gruber syndrome (MKS) is a severe autosomal recessively inherited disorder caused by mutations in genes that encode components of the primary cilium and basal body. Here we show that two MKS proteins, MKS1 and meckelin, that are required for c... Read More about Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton.

Mutations in the lethal ciliopathy Meckel–Gruber syndrome alter the subcellular distribution of actin-binding proteins and disrupt the actin cytoskeleton (2009)
Journal Article
Adams, M., Dawe, H., Wheway, G., Szymanska, K., Logan, C., Noegel, A., …Johnson, C. (2009). Mutations in the lethal ciliopathy Meckel–Gruber syndrome alter the subcellular distribution of actin-binding proteins and disrupt the actin cytoskeleton. Mechanisms of Development, 126, S263. https://doi.org/10.1016/j.mod.2009.06.696

MKS3, encoding a novel trans-membrane receptor, meckelin with similarity to frizzled proteins, is mutated in Meckel–Gruber syndrome (MKS), an autosomal recessive lethal ciliopathy. Meckelin is a ciliary protein, but it also localises to the actin... Read More about Mutations in the lethal ciliopathy Meckel–Gruber syndrome alter the subcellular distribution of actin-binding proteins and disrupt the actin cytoskeleton.