All Outputs (4)

Adaptive Evolution in TRIF Leads to Discordance between Human and Mouse Innate Immune Signaling (2021)
Journal Article
Hyland, E. M., Webb, A. E., Kennedy, K. F., Gerek Ince, Z. N., Loscher, C. E., & O'Connell, M. J. (2021). Adaptive Evolution in TRIF Leads to Discordance between Human and Mouse Innate Immune Signaling. Genome Biology and Evolution, 13(12), Article evab268. https://doi.org/10.1093/gbe/evab268

The TIR domain-containing adapter inducing IFN-β (TRIF) protein is an innate immune system protein that mediates the MyD88-independent toll-like receptor response pathway in mice and humans. Previously, we identified positive selection at seven disti... Read More about Adaptive Evolution in TRIF Leads to Discordance between Human and Mouse Innate Immune Signaling.

Cytoplasmic long noncoding rnas are differentially regulated and translated during human neuronal differentiation (2021)
Journal Article
DOUKA, K., BIRDS, I., WANG, D., KOSTELETOS, A., CLAYTON, S., BYFORD, A., VASCONCELOS, E. J., O'CONNELL, M. J., DEUCHARS, J., WHITEHOUSE, A., & ASPDEN, J. L. (2021). Cytoplasmic long noncoding rnas are differentially regulated and translated during human neuronal differentiation. RNA, 27(9), 1082-1101. https://doi.org/10.1261/rna.078782.121

The expression of long noncoding RNAs is highly enriched in the human nervous system. However, the function of neuronal lncRNAs in the cytoplasm and their potential translation remains poorly understood. Here we performed Poly-Ribo-Seq to understand... Read More about Cytoplasmic long noncoding rnas are differentially regulated and translated during human neuronal differentiation.

Ribosome heterogeneity in Drosophila melanogaster gonads through paralog-switching (2021)
Journal Article
Hopes, T., Norris, K., Agapiou, M., McCarthy, C. G., Lewis, P. A., O'Connell, M. J., Fontana, J., & Aspden, J. L. (2022). Ribosome heterogeneity in Drosophila melanogaster gonads through paralog-switching. Nucleic Acids Research, 50(4), 2240-2257. https://doi.org/10.1093/nar/gkab606

Ribosomes have long been thought of as homogeneous macromolecular machines, but recent evidence suggests they are heterogeneous and could be specialised to regulate translation. Here, we have characterised ribosomal protein heterogeneity across 4 tis... Read More about Ribosome heterogeneity in Drosophila melanogaster gonads through paralog-switching.

Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20 (2021)
Journal Article
Nikolopoulos, G., Smith, C. E. L., Poulter, J. A., Murillo, G., Silva, S., Lamb, T., Berry, I. R., Brown, C. J., Day, P. F., Soldani, F., Al‐Bahlani, S., Harris, S. A., O'Connell, M. J., Inglehearn, C. F., & Mighell, A. J. (2021). Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20. Human Mutation, 42(5), 567-576. https://doi.org/10.1002/humu.24187

Amelogenesis imperfecta (AI) describes a heterogeneous group of developmental enamel defects that typically have Mendelian inheritance. Exome sequencing of 10 families with recessive hypomaturation AI revealed four novel and one known variants in the... Read More about Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20.