Genomic investigations of unexplained acute hepatitis in children

Autor: Morfopoulou, S, Buddle, S, Torres Montaguth, OE, Atkinson, L, Guerra-Assunção, JA, Moradi Marjaneh, M, Zennezini Chiozzi, R, Storey, N, Campos, L, Hutchinson, JC, Counsell, JR, Pollara, G, Roy, S, Venturini, C, Antinao Diaz, JF, Siam, A, Tappouni, LJ, Asgarian, Z, Ng, J, Hanlon, KS, Lennon, A, McArdle, A, Czap, A, Rosenheim, J, Andrade, C, Anderson, G, Lee, JCD, Williams, R, Williams, CA, Tutill, H, Bayzid, N, Martin Bernal, LM, Macpherson, H, Montgomery, K-A, Moore, C, Templeton, K, Neill, C, Holden, M, Gunson, R, Shepherd, SJ, Shah, P, Cooray, S, Voice, M, Steele, M, Fink, C, Whittaker, TE, Santilli, G, Gissen, P, Kaufer, BB, Reich, J, Andreani, J, Simmonds, P, Alrabiah, DK, Castellano, S, Chikowore, P, Odam, M, Rampling, T, Houlihan, C, Hoschler, K, Talts, T, Celma, C, Gonzalez, S, Gallagher, E, Simmons, R, Watson, C, Mandal, S, Zambon, M, Chand, M, Hatcher, J, De, S, Baillie, K, Semple, MG, DIAMONDS Consortium, PERFORM Consortium, ISARIC 4C Investigators, Martin, J, Ushiro-Lumb, I, Noursadeghi, M, Deheragoda, M, Hadzic, N, Grammatikopoulos, T, Brown, R, Kelgeri, C, Thalassinos, K, Waddington, SN, Jacques, TS, Thomson, E, Levin, M, Brown, JR, Breuer, J

Since its first identification in Scotland, over 1,000 cases of unexplained paediatric hepatitis in children have been reported worldwide, including 278 cases in the UK1. Here we report an investigation of 38 cases, 66 age-matched immunocompetent con

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1032::6795ba5b71c0ade985a1f9cf7bd26084
http://hdl.handle.net/10044/1/105327

AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann–Pick type C1 disease

Autor: Hughes, MP, Smith, DA, Morris, L, Fletcher, C, Colaco, A, Huebecker, M, Tordo, J, Palomar, N, Massaro, G, Henckaerts, E, Waddington, SN, Platt, FM, Rahim, AA

Publikováno v: Human Molecular Genetics

Niemann-Pick type C disease (NP-C) is a fatal neurodegenerative lysosomal storage disorder. It is caused in 95% of cases by a mutation in the NPC1 gene that encodes NPC1, an integral transmembrane protein localized to the limiting membrane of the lys

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::fe08c4b23948e313841679f13c0ecc48

Bioluminescence monitoring of promoter activity in vitro and in vivo

Autor: Delhove, JMKM, Karda, R, Hawkins, KE, FitzPatrick, LM, Waddington, SN, McKay, TR

© 2017, Springer Science+Business Media LLC. The application of luciferase reporter genes to provide quantitative outputs for the activation of promoters is a well-established technique in molecular biology. Luciferase catalyzes an enzymatic reactio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______128::5edb9557953d4cdb7f46d1e9ddd93807
https://e-space.mmu.ac.uk/619962/

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