Zobrazeno 1 - 7 of 7 pro vyhledávání: '"Audrey Décha"'
1
Targeted Exon Skipping Restores Type VII Collagen Expression and Anchoring Fibril Formation in an In Vivo RDEB Model
Autor: Sandrina Turczynski, Audrey Décha, Matthias Titeux, Akemi Ishida-Yamamoto, Laure Tonasso, Alain Hovnanian
Publikováno v: Journal of Investigative Dermatology. 136:2387-2395
Dystrophic epidermolysis bullosa is a group of orphan genetic skin diseases dominantly or recessively inherited, caused by mutations in COL7A1 encoding type VII collagen, which forms anchoring fibrils. Individuals with recessive dystrophic epidermoly
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2233b3cd4ea6d183398dbb04439107c
https://doi.org/10.1016/j.jid.2016.07.029
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3
A frequent functional SNP in theMMP1promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa
Autor: Audrey Décha, Alain Hovnanian, Laure Tonasso, Valérie Pendaries, Matthias Titeux, Christine Bodemer
Publikováno v: Human Mutation. 29:267-276
Recessive dystrophic epidermolysis bullosa (RDEB) is caused by mutations in the COL7A1 gene encoding type VII collagen. Variations in severity between the different clinical forms of RDEB likely depend on the nature and location of COL7A1 mutations,
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ebde1b1ab8e07a00ceba877deb6821c
https://doi.org/10.1002/humu.20647
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4
SIN Retroviral Vectors Expressing COL7A1 Under Human Promoters for Ex Vivo Gene Therapy of Recessive Dystrophic Epidermolysis Bullosa
Autor: Olivier Danos, Maria Antonietta Zanta-Boussif, Alain Hovnanian, Valérie Pendaries, Agnes Brice, José E. Mejía, Laure Tonasso, Matthias Titeux, N. Pironon, Audrey Décha
Recessive dystrophic epidermolysis bullosa (RDEB) is caused by loss-of-function mutations in COL7A1 encoding type VII collagen which forms key structures (anchoring fibrils) for dermal-epidermal adherence. Patients suffer since birth from skin bliste
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f92f9d69b87d9a4ea96c3c1e85c4af79
https://europepmc.org/articles/PMC2927071/
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5
Immune reactivity to type VII collagen: implications for gene therapy of recessive dystrophic epidermolysis bullosa
Autor: José E. Mejía, Catherine Prost-Squarcioni, Alain Hovnanian, Zulma G. Vitezica, P Loiseau, Valérie Pendaries, C Leroux, Matthias Titeux, Christine Bodemer, Audrey Décha, Géraldine Gasc
Publikováno v: Gene Therapy
Gene Therapy, Nature Publishing Group, 2010, 17 (7), pp.930-937. ⟨10.1038/gt.2010.36⟩
Gene Therapy, 2010, 17 (7), pp.930-937. ⟨10.1038/gt.2010.36⟩
International audience; Recessive dystrophic epidermolysis bullosa (RDEB) is a severe genodermatosis caused by loss-of-function mutations in COL7A1 encoding type VII collagen, the component of anchoring fibrils. As exogenous type VII collagen may eli
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2302fdc19cd03b5a378aa52aff09398d
https://pubmed.ncbi.nlm.nih.gov/20376098
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6
Lens cell targetting for gene therapy of prevention of posterior capsule opafication
Autor: M Penary, Audrey Décha, Matthias Titeux, B Serre, François Malecaze, Bettina Couderc, N H Lubsen, Arnaud Jd, Berg D, Eric J. Kremer, Duboue M
Publikováno v: Gene Therapy, 13, 19, pp. 1422-1429
Gene Therapy, 13, 1422-1429
Posterior capsule opacification is the main complication of cataract surgery. Using adenovirus-mediated gene transfer, we recently reported that it was feasible to prevent PCO by overexpressing pro-apoptotic molecules such as pro-caspase 3 or Bax in
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63d16a319651f4c7f378f540694c8c97
https://hdl.handle.net/2066/35727
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