Role of animal models in gene therapy

Autor: David J. Porteous, J. R. Dorin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::75288a56cb315fa87663180c8ba35542
https://doi.org/10.1201/9781003076919-9

Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations

Autor: Ray Farley, Stephen Delaney, Brandon J. Wainwright, Stephen N. Smith, David A. Hume, J. R. Dorin, Dominic P. Lunn, Scott Thomson, David J. Porteous, Eric W.F.W. Alton, David Lamb, Paul K. Lovelock

Publikováno v: The EMBO Journal. 15:955-963

We have generated a mouse carrying the human G551D mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR) by a one-step gene targeting procedure. These mutant mice show cystic fibrosis pathology but have a reduced risk of fat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c5dd7b46bededd741e14c9033e091e9e
https://doi.org/10.1002/j.1460-2075.1996.tb00432.x

The severe G480C cystic fibrosis mutation, when replicated in the mouse, demonstrates mistrafficking, normal survival and organ-specific bioelectrics

Autor: Isla J. Campbell, Paul Dickinson, David J. Porteous, Fiona Kilanowski, Sheila Webb, J. R. Dorin, Hugo R. de Jonge, Martin S. Taylor, Eric W.F.W. Alton, Rob Willemsen, Stephen N. Smith, Ray Farley

Publikováno v: Dickinson, P, Smith, S N, Webb, S, Kilanowski, F M, Campbell, I J, Taylor, M S, Porteous, D J, Willemsen, R, de Jonge, H R, Farley, R, Alton, E W F W & Dorin, J R 2002, ' The severe G480C cystic fibrosis mutation, when replicated in the mouse, demonstrates mistrafficking, normal survival and organ-specific bioelectrics ', Human Molecular Genetics, vol. 11, no. 3, pp. 243-51 . https://doi.org/10.1093/hmg/11.3.243
Human Molecular Genetics, 11, 243-251. Oxford University Press

The majority of cystic fibrosis patients produce a mutant form of CFTR (DeltaF508) which has been shown to be mislocalized in both humans and mice. G480C, another clinically 'severe' mutation, has also been demonstrated to be defective in its intrace

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46366797fc02999b8eefc4ec4253e78e
https://pubmed.ncbi.nlm.nih.gov/11823443

Early alterations in airway mucociliary clearance and inflammation of the lamina propria in CF mice

Autor: David J. Porteous, F. Dupuit, E. Puchelle, J. R. Dorin, J.M. Zahm, Dominique Gaillard, Jocelyne Hinnrasky

Publikováno v: The American journal of physiology. 272(3 Pt 1)

In cystic fibrosis (CF), whether cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction leads to decreased mucociliary clearance and mucus hypersecretion, before bacterial infection, remains an open question. To answer this question,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b0743b53fd334ddb82d26b4555f7732
https://pubmed.ncbi.nlm.nih.gov/9124520

A demonstration using mouse models that successful gene therapy for cystic fibrosis requires only partial gene correction

Autor: J R, Dorin, R, Farley, S, Webb, S N, Smith, E, Farini, S J, Delaney, B J, Wainwright, E W, Alton, D J, Porteous

Publikováno v: Gene therapy. 3(9)

Quantifying the level of transgene expression necessary for phenotypic effect is an important consideration in designing somatic gene therapy protocols. A nonlinear relationship between phenotype and gene activity is predicted by control analysis for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b6c2dc7de13af9ac02bca7b3176674c3
https://pubmed.ncbi.nlm.nih.gov/8875228