Modification of an aggressive model of Alport Syndrome reveals early differences in disease pathogenesis due to genetic background

Autor: Andrew Parker, Sara Falcone, Charles D. Pusey, A Blease, Jeremy Sanderson, Laura Wisby, T Nicol, Paul Potter, Becky Starbuck, Steve D.M. Brown, Frederick W.K. Tam, Cheryl L. Scudamore

Publikováno v: Scientific Reports, Vol 9, Iss 1, Pp 1-15 (2019)
Scientific Reports

The link between mutations in collagen genes and the development of Alport Syndrome has been clearly established and a number of animal models, including knock-out mouse lines, have been developed that mirror disease observed in patients. However, it

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::856a8ad3c28813cf48807896260c9fbb
http://link.springer.com/article/10.1038/s41598-019-56837-6

Novel gene function revealed by mouse mutagenesis screens for models of age-related disease

Autor: Carlos A. Aguilar, Becky Starbuck, Siddharth Sethi, Paul Potter, Gemma Law, Marie Hutchison, Ruairidh King, Gareth Banks, Anne-Marie Mallon, Ines Heise, Thomas Agnew, Vincent Michel, Rosie Hillier, Femke Stelma, Patrick M. Nolan, Aziz El-Amraoui, Michelle Simon, Laura Wisby, Shelley Harris, Susan Morse, Laurence Goosey, Ian J. Jackson, Steve D. M. Brown, Lauren Chessum, Michelle Goldsworthy, Robert E MacLaren, Saumya Kumar, Michael Cheeseman, Andrew Parker, Sara Wells, Christine Petit, Sally H. Cross, Cheryl L. Scudamore, Stuart N. Peirson, Simon Greenaway, Heena V. Lad, Rajesh V. Thakker, Prashanthini Jeyarajan, Abraham Acevedo-Arozena, Andrew Blake, Karen Pickford, Sara Falcone, T Nicol, Angela Hoslin, Andy Haynes, Alun R. Barnard, Tonia L. Vincent, Russell G. Foster, Tertius Hough, Joanne Dorning, Michael R. Bowl, Roger D. Cox, A Blease

Publikováno v: Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
Nature Communications
Nature Communications, 2016, 7, pp.12444. ⟨10.1038/ncomms12444⟩
Potter, P K, Bowl, M R, Jeyarajan, P, Wisby, L, Blease, A, Goldsworthy, M E, Simon, M M, Greenaway, S, Michel, V, Barnard, A, Aguilar, C, Agnew, T, Banks, G, Blake, A, Chessum, L, Dorning, J, Falcone, S, Goosey, L, Harris, S, Haynes, A, Heise, I, Hillier, R, Hough, T, Hoslin, A, Hutchison, M, King, R, Kumar, S, Lad, H V, Law, G, MacLaren, R E, Morse, S, Nicol, T, Parker, A, Pickford, K, Sethi, S, Starbuck, B, Stelma, F, Cheeseman, M, Cross, S H, Foster, R G, Jackson, I J, Peirson, S N, Thakker, R V, Vincent, T, Scudamore, C, Wells, S, El-Amraoui, A, Petit, C, Acevedo-Arozena, A, Nolan, P M, Cox, R, Mallon, A-M & Brown, S D M 2016, ' Novel gene function revealed by mouse mutagenesis screens for models of age-related disease ', Nature Communications, vol. 7, 12444 . https://doi.org/10.1038/ncomms12444

Determining the genetic bases of age-related disease remains a major challenge requiring a spectrum of approaches from human and clinical genetics to the utilization of model organism studies. Here we report a large-scale genetic screen in mice emplo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a969bb49a14697bd26efff946fb27b0a
https://doaj.org/article/fa97ab87303c498f824c8286a0325379

Spir2; a novel QTL on chromosome 4 contributes to susceptibility to pneumococcal infection in mice

Autor: Peter W. Andrew, Paul Denny, Daniel R. Neill, Vitor E. Fernandes, Aras Kadioglu, Laura Wisby

Publikováno v: BMC Genomics

Background Streptococcus pneumoniae causes over one million deaths worldwide annually, despite recent developments in vaccine and antibiotic therapy. Host susceptibility to pneumococcal infection and disease is controlled by a combination of genetic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83ad46d9cb906266fa57445c7c7253e9
https://pubmed.ncbi.nlm.nih.gov/23577770

Discovering gene function from development to ageing

Autor: Potter, Paul K., Laura, Wisby, Blease, Andrew, Simon, Michelle M., Aguilar, Carlos, Agnew, Thomas, Banks, Gareth, Blake, Andrew, Chessum, Lauren, Dorning, Joanne, Falcone, Sara, Goosey, Laurence, Greenaway, Simon, Harris, Shelley, Haynes, Andrew, Heise, Ines, Hillier, Rosie, Hough, Tertius, Hoslin, Angela, Hutchison, Marie, King, Ruairidh, Kumar, Saumya, Lad, Heena, Law, Gemma, Morse, Susan, Nicol, Thomas, Parker, Andrew, Pickford, Karen, Sethi, Siddharth, Shanthakumar, Prashanthini, Starbuck, Becky, Cheeseman, Michael, Cross, Sally H., Foster, Russell G., Goldsworthy, Michelle E., Jackson, Ian J., Pierson, Stuart N., Thakker, Rajesh V., Vincent, Tonia, Scudamore, Cheryl, Wells, Sara, Acevedo-Arozena, Abraham, Nolan, Patrick M., Cox, Roger, Mallon, Anne-Marie, Bowl, Michael R., Brown, Steve D.M.

Publikováno v: In Reproductive Toxicology 15 August 2015 56:10-10

Melody, an ENU mutation in Caspase 3, alters the catalytic cysteine residue and causes sensorineural hearing loss in mice

Autor: Rachel E. Hardisty-Hughes, Laura Wisby, Andrew Parker, Steve D.M. Brown, Susan Joyce

Publikováno v: Mammalian Genome

Progeny from the Harwell N-ethyl-N-nitrosourea (ENU) recessive mutagenesis screen were assessed for auditory defects. A pedigree was identified with multiple progeny lacking response to a clickbox test. Auditory brainstem response (ABR) analysis show

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::349e0f3339d6777a8ec555035a97e04c