Associated Papers
Transcriptome-guided drug repurposing identifies selumetinib for an aggressive epithelial cancer.
Dorfer S et al.
The Journal of Investigative Dermatology, 2025
Gene editing for collagen disorders: current advances and future perspectives.
Kocsy K et al.
Gene Therapy, 2025
Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.
Ota VK et al.
Clinical and Experimental Dermatology, 2025
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Clinical and Allelic Heterogeneity in a Small Cohort of Patients with Inherited Epidermolysis Bullosa.
Buianova AA et al.
International Journal of Molecular Sciences, 2025
Decoding COL7A1: a genetic roadmap to prognostication and personalized medicine in recessive dystrophic epidermolysis bullosa.
Lwin SM
The British Journal of Dermatology, 2025
Dystrophic epidermolysis bullosa - From biochemistry to interventions.
Nyström A
Matrix Biology : Journal of the International Society for Matrix Biology, 2025
Enhanced HDR-mediated correction of heterozygous COL7A1 mutations for recessive dystrophic epidermolysis bullosa.
Hunt JMT et al.
Molecular Therapy. Nucleic Acids, 2025
Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa.
Pironon N et al.
European Journal of Human Genetics : Ejhg, 2025
Repurposing diacerein for the treatment of chronic wounds in recessive-dystrophic epidermolysis bullosa patients by modulating matrix metalloproteinase-9 expression.
Dorfer S et al.
The Journal of Dermatology, 2025
New recessive dystrophic epidermolysis bullosa intermediate variant resulting from alternative splicing of exon 19 and truncation in the fibronectin III-like domain of type VII collagen.
Martynova AA et al.
The British Journal of Dermatology, 2025
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Highly Efficient Ex Vivo Correction of COL7A1 through Ribonucleoprotein-Based CRISPR/Cas9 and Homology-Directed Repair to Treat Recessive Dystrophic Epidermolysis Bullosa.
Berthault C et al.
The Journal of Investigative Dermatology, 2024
Challenges and progress related to gene editing in rare skin diseases.
Piñón Hofbauer J et al.
Advanced Drug Delivery Reviews, 2024
Descriptive Study of the Clinical and Molecular Features of Epidermolysis Bullosa Patients in a Romanian European Reference Network-Skin Affiliated Reference Center.
Suru A et al.
Cureus, 2024
Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa.
Tartaglia G et al.
Embo Molecular Medicine, 2024
Emerging Gene Therapeutics for Epidermolysis Bullosa under Development.
Bischof J et al.
International Journal of Molecular Sciences, 2024
Splicing Modulation via Antisense Oligonucleotides in Recessive Dystrophic Epidermolysis Bullosa.
Hainzl S et al.
International Journal of Molecular Sciences, 2024
Dupilumab as a novel therapy for epidermolysis bullosa pruriginosa.
Shao L et al.
International Journal of Dermatology, 2023
Variable Outcome of Immunotherapy in Advanced Multiple Cutaneous Squamous Cell Carcinomas in Two Patients with Recessive Dystrophic Epidermolysis Bullosa.
Trefzer L et al.
Acta Dermato-venereologica, 2023
Generation and characterization of induced pluripotent stem cell lines from two patients with recessive dystrophic epidermolysis Bullosa.
Vincent C et al.
Stem Cell Research, 2023
Cytosine Deaminase Base Editing to Restore COL7A1 in Dystrophic Epidermolysis Bullosa Human: Murine Skin Model.
Naso G et al.
Jid Innovations : Skin Science From Molecules to Population Health, 2023
Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.
Smyk M et al.
Genes, 2023
Targeted NGS in Diagnostics of Genodermatosis Characterized by the Epidermolysis Bullosa Symptom Complex in 268 Russian Children.
Savostyanov K et al.
International Journal of Molecular Sciences, 2022
Recessive Dystrophic Epidermolysis bullosa due to Hemizygous 40 kb Deletion of COL7A1 and the Proximate PFKFB4 Gene Focusing on the Mutation c.425A>G Mimicking Homozygous Status
Klausegger A et al.
Diagnostics (basel, Switzerland), 2022
Predominance of Staphylococcus Correlates with Wound Burden and Disease Activity in Dystrophic Epidermolysis Bullosa: A Prospective Case-Control Study.
Reimer-Taschenbrecker A et al.
The Journal of Investigative Dermatology, 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
Genes and compounds that increase type VII collagen expression as potential treatments for dystrophic epidermolysis bullosa.
Thompson EL et al.
Experimental Dermatology, 2022
A de novo missense mutation in the NC1 domain of type VII collagen leads to dystrophic epidermolysis bullosa.
Cheng P et al.
Postepy Dermatologii I Alergologii, 2022
[Wound therapy with cold atmospheric plasma in severe recessive dystrophic epidermolysis bullosa : A pilot study].
Thiem A et al.
Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete, 2022
Dystrophic epidermolysis bullosa pruriginosa: a new case series of a rare phenotype unveils skewed Th2 immunity.
Darbord D et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2022
Efficacy of gentamicin 0.3% solution of oral erosions healing in patients with severe generalized recessive dystrophic epidermolysis bullosa and its impact on the expression of type VII collagen.
Osipowicz K et al.
Postepy Dermatologii I Alergologii, 2021
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
A non-viral and selection-free COL7A1 HDR approach with improved safety profile for dystrophic epidermolysis bullosa.
Kocher T et al.
Molecular Therapy. Nucleic Acids, 2021
Ex vivo gene modification therapy for genetic skin diseases-recent advances in gene modification technologies and delivery.
Jayarajan V et al.
Experimental Dermatology, 2021
QR-313, an Antisense Oligonucleotide, Shows Therapeutic Efficacy for Treatment of Dominant and Recessive Dystrophic Epidermolysis Bullosa: A Preclinical Study.
Bornert O et al.
The Journal of Investigative Dermatology, 2021
Immunofluorescence mapping, electron microscopy and genetics in the diagnosis and sub-classification of inherited epidermolysis bullosa: a single-centre retrospective comparative study of 87 cases with long-term follow-up.
Rossi S et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2021
Signatures of Dermal Fibroblasts from RDEB Pediatric Patients.
Beilin AK et al.
International Journal of Molecular Sciences, 2021
Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.
Mariath LM et al.
Clinical Genetics, 2021
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 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
Context-Dependent Strategies for Enhanced Genome Editing of Genodermatoses.
March OP et al.
Cells, 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
Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa.
Bremer J et al.
Molecular Therapy. Nucleic Acids, 2019