Outputs (8)

Genotype-phenotype correlations in human diseases caused by mutations of LINC complex-associated genes: a systematic review and meta-summary (2022)
Journal Article
Fuller, H., & Storey, E. (2022). Genotype-phenotype correlations in human diseases caused by mutations of LINC complex-associated genes: a systematic review and meta-summary. Cells, https://doi.org/10.3390/cells11244065

Mutations in genes encoding proteins associated with the linker of nucleoskel-eton and cytoskeleton (LINC) complex within the nuclear envelope cause dif-ferent diseases with varying phenotypes including skeletal muscle, cardiac, metabolic, or nervous... Read More about Genotype-phenotype correlations in human diseases caused by mutations of LINC complex-associated genes: a systematic review and meta-summary.

P.146 Characterising the molecular consequences of LMNA-related congenital muscular dystrophy in patient myoblasts (2022)
Journal Article
Storey, E., Holt, I., Owen, S., Synowsky, S., Shirran, S., Morris, G., & Fuller, H. (2022). P.146 Characterising the molecular consequences of LMNA-related congenital muscular dystrophy in patient myoblasts. Neuromuscular Disorders, 32, S108. https://doi.org/10.1016/j.nmd.2022.07.274

Characterising the molecular consequences of LMNA-related congenital muscular dystrophy in patient myoblasts (2022)
Presentation / Conference
Fuller. (2022, October). Characterising the molecular consequences of LMNA-related congenital muscular dystrophy in patient myoblasts. Presented at 27th International Hybrid Annual Congress of the World Muscle Society, Halifax, Nova Scotia, Canada

Genotype-phenotype correlations in human diseases caused by mutations of LINC complex-associated genes: a systematic review and meta-summary (2022)
Journal Article
Fuller, H., & Storey, E. (2022). Genotype-phenotype correlations in human diseases caused by mutations of LINC complex-associated genes: a systematic review and meta-summary. Neuromuscular Disorders, https://doi.org/10.1016/j.nmd.2022.07.276

Differential expression of intermediate filament proteins: lamins A/C and desmin within and between adult skeletal muscles (2022)
Journal Article
Shaqoura, E., McCallion, E., Fuller, H., & Bowerman, M. (2022). Differential expression of intermediate filament proteins: lamins A/C and desmin within and between adult skeletal muscles. Neuromuscular Disorders, S109 - S109. https://doi.org/10.1016/j.nmd.2022.07.277

A Meta-summary and Bioinformatic Analysis Identified Interleukin 6 as a Master Regulator of COVID-19 Severity Biomarkers (2022)
Journal Article
Ghanem, M., Owen, S., Mohamed, A., & Fuller, H. (2022). A Meta-summary and Bioinformatic Analysis Identified Interleukin 6 as a Master Regulator of COVID-19 Severity Biomarkers. Cytokine, 159, Article 156011. https://doi.org/10.1016/j.cyto.2022.156011

With the rising demand for improved COVID-19 disease monitoring and prognostic markers, studies have aimed to identify biomarkers using a range of screening methods. However, the selection of biomarkers for validation from large datasets may result i... Read More about A Meta-summary and Bioinformatic Analysis Identified Interleukin 6 as a Master Regulator of COVID-19 Severity Biomarkers.

The proteome signatures of fibroblasts from patients with severe, intermediate and mild spinal muscular atrophy show limited overlap (2022)
Journal Article
Owen, S., Kline, R., Synowsky, S., Shirran, S., Sillence, K., Claus, P., …Holt, I. (2022). The proteome signatures of fibroblasts from patients with severe, intermediate and mild spinal muscular atrophy show limited overlap. Cells, https://doi.org/10.3390/cells11172624

Most research to characterise the molecular consequences of spinal muscular atrophy (SMA) have focused on SMA I. Here, proteomic profiling of skin fibroblasts from severe (SMA I), intermediate (SMA II), and mild (SMA III) patients, alongside age-matc... Read More about The proteome signatures of fibroblasts from patients with severe, intermediate and mild spinal muscular atrophy show limited overlap.

An Anatomy of the Blood Eagle: The Practicalities of Viking Torture (2022)
Journal Article
Murphy, L. J., Fuller, H. R., Willan, P. L., & Gates, M. (2022). An Anatomy of the Blood Eagle: The Practicalities of Viking Torture. Speculum, 1-39. https://doi.org/10.1086/717332

The infamous blood eagle ritual has long been controversial: did Viking-Age Nordic people really torture one another to death by severing their ribs from their spine and removing their lungs, or is it all a misunderstanding of some complicated poetry... Read More about An Anatomy of the Blood Eagle: The Practicalities of Viking Torture.