Associated Papers
Transcriptome-guided drug repurposing identifies selumetinib for an aggressive epithelial cancer.
Dorfer S et al.
The Journal of Investigative Dermatology, 2025
Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.
Ota VK et al.
Clinical and Experimental Dermatology, 2025
Base edited skin equivalents with clinical potential for ex vivo correction of recessive dystrophic epidermolysis bullosa.
Bassons-Bascuñana A et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation.
Warshauer EM et al.
Journal of Medical Genetics, 2025
Phenotypic Characteristics of a Patient Cohort With Recessive Dystrophic Epidermolysis Bullosa and the Pathogenic Variant c.7485+5G>A in Intron 98 of COL7A1.
Pascual MG et al.
American Journal of Medical Genetics. Part A, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 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
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis.
Koutsoukos SA et al.
Dermatology and Therapy, 2024
Genetic Implications and Management of Epidermolysis Bullosa in the Saudi Arabian Population.
Shehata NA et al.
Cureus, 2024
A scalable and cGMP-compatible autologous organotypic cell therapy for Dystrophic Epidermolysis Bullosa.
Neumayer G et al.
Nature Communications, 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
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa.
Tartaglia G et al.
Embo Molecular Medicine, 2024
Patients suffering from dystrophic epidermolysis bullosa are prone to developing autoantibodies against skin proteins: A longitudinal confirmational study.
Bremer J et al.
Experimental Dermatology, 2024
CRISPR-Cas9-based non-viral gene editing therapy for topical treatment of recessive dystrophic epidermolysis bullosa.
Wang X et al.
Molecular Therapy. Methods & Clinical Development, 2023
Gluten-sensitive enteropathy in recessive dystrophic epidermolysis bullosa.
Sacedón R et al.
The British Journal of Dermatology, 2023
Maintenance of chronicity signatures in fibroblasts isolated from recessive dystrophic epidermolysis bullosa chronic wound dressings under culture conditions.
De Gregorio C et al.
Biological Research, 2023
A scalable, GMP-compatible, autologous organotypic cell therapy for Dystrophic Epidermolysis Bullosa.
Neumayer G et al.
Biorxiv : the Preprint Server for Biology, 2023
Clinical and allelic heterogeneity in dystrophic epidermolysis bullosa- lessons from an Indian cohort.
Gupta D et al.
Plos One, 2023
Preclinical model for phenotypic correction of dystrophic epidermolysis bullosa by in vivo CRISPR-Cas9 delivery using adenoviral vectors.
García M et al.
Molecular Therapy. Methods & Clinical Development, 2022
Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype-phenotype correlation.
Natale MI et al.
American Journal of Medical Genetics. Part A, 2022
Long-term safety and efficacy of gene-corrected autologous keratinocyte grafts for recessive dystrophic epidermolysis bullosa.
So JY et al.
Orphanet Journal of Rare Diseases, 2022
Whole exome sequencing in a sample of Peruvian patients diagnosed with epidermolysis bullosa.
Zevallos-Morales A et al.
Dermatology Online Journal, 2022
Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in five Chinese families.
Wang R et al.
Frontiers of 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
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
In vivo topical gene therapy for recessive dystrophic epidermolysis bullosa: a phase 1 and 2 trial.
Gurevich I et al.
Nature Medicine, 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
Ex vivo gene modification therapy for genetic skin diseases-recent advances in gene modification technologies and delivery.
Jayarajan V et al.
Experimental Dermatology, 2021
Correction of recessive dystrophic epidermolysis bullosa by homology-directed repair-mediated genome editing.
Bonafont J et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2021
Pathogenetic Therapy of Epidermolysis Bullosa: Current State and Prospects.
Ryumina II et al.
Bulletin of Experimental Biology and Medicine, 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
Challenges in Treating Genodermatoses: New Therapies at the Horizon.
Morren MA et al.
Frontiers in Pharmacology, 2021
Raloxifene and n-Acetylcysteine Ameliorate TGF-Signalling in Fibroblasts from Patients with Recessive Dominant Epidermolysis Bullosa.
Aguado T et al.
Cells, 2020
Epidermolysis bullosa with congenital absence of skin: Clinical and genetic characterization of a 23-case series.
Mariath LM et al.
Clinical Genetics, 2020