Associated Papers
Novel eRF3a degrader enhances gentamicin-induced premature termination codon readthrough in epidermolysis bullosa.
Miao KL et al.
Molecular Therapy. Nucleic Acids, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Novel readthrough agent suppresses nonsense mutations and restores functional type VII collagen and laminin 332 in epidermolysis bullosa.
Levian B et al.
Molecular Therapy. Nucleic Acids, 2024
Identification of novel small molecule-based strategies of COL7A1 upregulation and readthrough activity for the treatment of recessive dystrophic epidermolysis bullosa.
Jover I et al.
Scientific Reports, 2024
Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa.
Tartaglia G et al.
Embo Molecular Medicine, 2024
Readthrough Activators and Nonsense-Mediated mRNA Decay Inhibitor Molecules: Real Potential in Many Genetic Diseases Harboring Premature Termination Codons.
Benslimane N et al.
Pharmaceuticals (basel, Switzerland), 2024
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients.
Tu WT et al.
Orphanet Journal of Rare Diseases, 2022
Diverse clinical and genetic characteristics of six cases of inherited epidermolysis bullosa.
Yao Y et al.
Experimental and Therapeutic Medicine, 2022
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
Nonsense Suppression Therapy: An Emerging Treatment for Hereditary Skin Diseases.
Yu J et al.
Acta Dermato-venereologica, 2022
5'RNA Trans-Splicing Repair of COL7A1 Mutant Transcripts in Epidermolysis Bullosa.
Mayr E et al.
International Journal of Molecular Sciences, 2022
Exome-Wide Search for Genes Associated With Central Nervous System Inflammatory Demyelinating Diseases Following CHIKV Infection: The Tip of the Iceberg.
Alves-Leon SV et al.
Frontiers in Genetics, 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
A novel mutation of COL7A1 in a Chinese DEB-Pt family and review of the literature.
Jin L et al.
Journal of Cosmetic Dermatology, 2020
EBGene trial: patient preselection outcomes for the European GENEGRAFT ex vivo phase I/II gene therapy trial for recessive dystrophic epidermolysis bullosa.
Gaucher S et al.
The British Journal of Dermatology, 2020
Human Mesenchymal Stromal Cells Engineered to Express Collagen VII Can Restore Anchoring Fibrils in Recessive Dystrophic Epidermolysis Bullosa Skin Graft Chimeras.
Petrova A et al.
The Journal of Investigative Dermatology, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa.
Atanasova VS et al.
The Journal of Investigative Dermatology, 2017
Gentamicin induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patients.
Woodley DT et al.
The Journal of Clinical Investigation, 2017
Revertant mosaicism in genodermatoses.
Lim YH et al.
Cellular and Molecular Life Sciences : Cmls, 2017
A novel deletion and two recurrent substitutions on type VII collagen gene in seven Iranian patients with epidermolysis bullosa.
Hamidi AK et al.
Iranian Journal of Basic Medical Sciences, 2016
Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB.
Georgiadis C et al.
The Journal of Investigative Dermatology, 2016
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015
Identification of Two Homozygous Sequence Variants in the COL7A1 Gene Underlying Dystrophic Epidermolysis Bullosa by Whole-Exome Analysis in a Consanguineous Family.
Serafi R et al.
Annals of Human Genetics, 2015
[COL7A1 gene mutation analysis of dystrophic epidermolysis bullosa and prenatal diagnosis].
Liu N et al.
Zhonghua Yi Xue Za Zhi, 2015
Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory.
Takeichi T et al.
The British Journal of Dermatology, 2015
Dystrophic epidermolysis bullosa: a review.
Shinkuma S
Clinical, Cosmetic and Investigational Dermatology, 2015
Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa.
Watt SA et al.
Plos One, 2015
Aminoglycosides restore full-length type VII collagen by overcoming premature termination codons: therapeutic implications for dystrophic epidermolysis bullosa.
Cogan J et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2014
High levels of type VII collagen expression in recessive dystrophic epidermolysis bullosa cutaneous squamous cell carcinoma keratinocytes increases PI3K and MAPK signalling, cell migration and invasion.
Pourreyron C et al.
The British Journal of Dermatology, 2014
De novo anti-type VII collagen antibodies in patients with recessive dystrophic epidermolysis bullosa.
Woodley DT et al.
The Journal of Investigative Dermatology, 2014
In vitro analysis of photosensitizer accumulation for assessment of applicability of fluorescence diagnosis of squamous cell carcinoma of epidermolysis bullosa patients.
Larisch P et al.
Biomed Research International, 2013
Revertant mosaicism in heritable skin diseases: mechanisms of natural gene therapy.
Pasmooij AM et al.
Discovery Medicine, 2012
Epidermolysis bullosa - a group of skin diseases with different causes but commonalities in gene expression.
Knaup J et al.
Experimental Dermatology, 2012
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
Revertant mosaicism in skin: natural gene therapy.
Lai-Cheong JE et al.
Trends in Molecular Medicine, 2011
Functional correction of type VII collagen expression in dystrophic epidermolysis bullosa.
Murauer EM et al.
The Journal of Investigative Dermatology, 2011
Revertant mosaicism in recessive dystrophic epidermolysis bullosa.
Almaani N et al.
The Journal of Investigative Dermatology, 2010
The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682+1G>A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa.
Drera B et al.
Journal of Dermatological Science, 2009
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
Significance of sentinel node biopsy in the management of squamous cell carcinoma arising from recessive dystrophic epidermolysis bullosa.
Rokunohe A et al.
The Journal of Dermatology, 2008
COL7A1 mutational analysis in Korean patients with dystrophic epidermolysis bullosa.
Oh SW et al.
The British Journal of Dermatology, 2007