Associated Papers
Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.
Ota VK et al.
Clinical and Experimental Dermatology, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Molecular profiling of a cohort with epidermolysis bullosa in India: a single centre experience.
Kumar A et al.
Clinical and Experimental Dermatology, 2025
Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa.
Tartaglia G et al.
Embo Molecular Medicine, 2024
Gluten-sensitive enteropathy in recessive dystrophic epidermolysis bullosa.
Sacedón R et al.
The British Journal of Dermatology, 2023
Therapeutic base editing and prime editing of COL7A1 mutations in recessive dystrophic epidermolysis bullosa.
Hong SA et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2022
Collagen VII maintains proteostasis in dermal fibroblasts by scaffolding TANGO1 cargo.
Cao Q et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2022
Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry.
Warshauer EM et al.
American Journal of Medical Genetics. Part A, 2021
Induced pluripotent stem cell (iPSC) line MLi-004A derived from a patient with recessive dystrophic epidermolysis bullosa (RDEB).
Ropret S et al.
Stem Cell Research, 2021
Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa.
Rashidghamat E et al.
Journal of the American Academy of Dermatology, 2020
Next-generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population.
Chen F et al.
Clinical Genetics, 2020
Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa.
Bremer J et al.
Molecular Therapy. Nucleic Acids, 2019
Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa.
Lwin SM et al.
Jci Insight, 2019
Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico.
Saeidian AH et al.
Clinical and Experimental Dermatology, 2018
Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.
Vahidnezhad H et al.
The Journal of Investigative Dermatology, 2017
HB-EGF induces COL7A1 expression in keratinocytes and fibroblasts: possible mechanism underlying allogeneic fibroblast therapy in recessive dystrophic epidermolysis Bullosa.
Nagy N et al.
The Journal of Investigative Dermatology, 2011
Cell-based therapy for RDEB: how does it work?
Uitto J
The Journal of Investigative Dermatology, 2011
Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa.
Wong T et al.
The Journal of Investigative Dermatology, 2008
Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
Dang N et al.
Experimental Dermatology, 2008
Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization.
Drera B et al.
Clinical Genetics, 2006
Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.
Whittock NV et al.
The Journal of Investigative Dermatology, 1999