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Human Gene Therapy|May 28, 2025
Safe and Efficacious Permanent Removal of Large COL7A1 Exons for Gene Reframing as a Reliable Therapeutic Strategy for Recessive Dystrophic Epidermolysis BullosaSergio López-Manzaneda, Ángeles Mencía, José Bonafont, et al.Plos One|August 23, 2012
A humanized mouse model of HPV-associated pathology driven by E7 expressionÁgueda Buitrago-Pérez, Mariam Hachimi, Marta Dueñas, et al.JAMA Dermatology|March 2, 2022
Evaluation of Systemic Gentamicin as Translational Readthrough Therapy for a Patient With Epidermolysis Bullosa Simplex With Muscular Dystrophy Owing to PLEC1 Pathogenic Nonsense VariantsLucía Martínez-Santamaría, Rocío Maseda, María Del Carmen de Arriba, et al.Scientific Reports|August 16, 2024
Identification of novel small molecule-based strategies of COL7A1 upregulation and readthrough activity for the treatment of recessive dystrophic epidermolysis bullosaIrene Jover, Maria C Ramos, María José Escámez, et al.Molecular Therapy : the Journal of the American Society of Gene Therapy|May 1, 2022
Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosaJohannes Bischof, Oliver Patrick March, Bernadette Liemberger, et al.Journal of Medical Genetics|September 24, 2025
Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutationEmily Mira Warshauer, Paul A Maier, Goran Runfeldt, et al.JCI Insight|June 7, 2019
Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosaSu M Lwin, Farhatullah Syed, Wei-Li Di, et al.Pageof 7