Dr Claudia Consoli

2025

• Singhrao, S. K. and Consoli, C. 2025. Identifying Alzheimer’s disease genes in apolipoprotein E−/− mice brains with confirmed Porphyromonas gingivalis entry. Journal of Alzheimer's Disease Reports 9 (10.1177/25424823251332874)
• Davison, G. et al. 2025. ColdZyme® reduces viral load and upper respiratory tract infection duration and protects airway epithelia from infection with human rhinoviruses.. The Journal of Physiology 603(6), pp. 1335-1680. (10.1113/JP288136)

2024

• Lowe, J. et al. 2024. Azithromycin therapy for prevention of chronic lung disease of prematurity (AZTEC): a multicentre, double-blind, randomised, placebo-controlled trial. The Lancet Respiratory Medicine 12(8), pp. 608-618. (10.1016/S2213-2600(24)00079-1)
• Singhrao, S. K., Consoli, C., Dennison, S. R., Kanagasingam, S. and Welbury, R. 2024. Porphyromonas gingivalis LPS and actinomyces naeslundii conditioned medium enhance the release of a low molecular weight, transcriptionally active, fragment of glycogen synthase-3 kinase in IMR-32 cell line. Journal of Alzheimer's Disease Reports 8(1), pp. 1055-1067. (10.3233/adr-240066)

2020

• Short, E. et al. 2020. APC transcription studies and molecular diagnosis of familial adenomatous polyposis. European Journal of Human Genetics 28(1), pp. 118-121. (10.1038/s41431-019-0486-2)

2010

• Pletinck, A. et al. 2010. Salt intake induces epithelial-to-mesenchymal transition of the peritoneal membrane in rats. Nephrology Dialysis Transplantation 25(5), pp. 1688-1696. (10.1093/ndt/gfq036)

2007

• Upadhyaya, M. et al. 2007. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. The American Journal of Human Genetics 80(1), pp. 140-151. (10.1086/510781)

2006

• Consoli, C. 2006. Molecular genetics of neurofibromatosis type 1 (NF1).. PhD Thesis, Cardiff University.

2005

• Consoli, C., Moss, C., Green, S., Balderson, D., Cooper, D. N. and Upadhyaya, M. 2005. Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1. Journal of Investigative Dermatology 125(3), pp. 463-466. (10.1111/j.0022-202x.2005.23834.x)

2004

• Upadhyaya, M. et al. 2004. Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors. Human Mutation 23(2), pp. 134-146. (10.1002/humu.10305)

2003

• Upadhyaya, M. et al. 2003. Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1. Human Genetics 112(1), pp. 12-17. (10.1007/s00439-002-0840-1)