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
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
Dystrophic epidermolysis bullosa caused by novel frameshift mutation in the COL7A1 gene: A case report.
Yang Y et al.
World Journal of Clinical Cases, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Identifying novel genetic variants in epidermolysis Bullosa among Middle Eastern Arab Families: Insights from whole exome sequencing and computational analysis.
Shehata N et al.
Plos One, 2025
Gamma-Secretase Inhibitors Downregulate the Profibrotic NOTCH Signaling Pathway in Recessive Dystrophic Epidermolysis Bullosa.
Condorelli AG et al.
The Journal of Investigative Dermatology, 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
Gene-Modified Blister Fluid-Derived Mesenchymal Stromal Cells for Treating Recessive Dystrophic Epidermolysis Bullosa.
Kikuchi Y et al.
The Journal of Investigative Dermatology, 2023
Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia.
Arline Diana I et al.
The Australasian Journal of Dermatology, 2023
Prime Editing for Human Gene Therapy: Where Are We Now?
Godbout K et al.
Cells, 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
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
A Case Report of an Infant with Autosomal Recessive Dystrophic Epidermolysis Bullosa: COL7A1 Gene Mutations at C2005T and G7922A.
Liu J et al.
Acta Dermatovenerologica Croatica : Adc, 2021
Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa.
Vermeer FC et al.
International Journal of Molecular Sciences, 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
Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.
Mariath LM et al.
Clinical Genetics, 2021
Epidermolysis bullosa with congenital absence of skin: Clinical and genetic characterization of a 23-case series.
Mariath LM et al.
Clinical Genetics, 2020
Base Editor Correction of COL7A1 in Recessive Dystrophic Epidermolysis Bullosa Patient-Derived Fibroblasts and iPSCs.
Osborn MJ 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
An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease-causing variants.
Mariath LM et al.
Clinical Genetics, 2019
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
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
Integration-free T cell-derived human induced pluripotent stem cells (iPSCs) from a patient with recessive dystrophic epidermolysis bullosa (RDEB) carrying two compound heterozygous mutations in the COL7A1 gene.
Itoh M et al.
Stem Cell Research, 2016
A COL7A1 variant leading to in-frame skipping of exon 15 attenuates disease severity in recessive dystrophic epidermolysis bullosa.
Schwieger-Briel A et al.
The British Journal of Dermatology, 2015
Epidemiology of inherited epidermolysis bullosa in Romania and genotype-phenotype correlations in patients with dystrophic epidermolysis bullosa.
Dănescu S et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 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
Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa.
Rodríguez FA et al.
Journal of Dermatological Science, 2012
Dystrophic epidermolysis bullosa: two case reports.
Dănescu S et al.
Romanian Journal of Morphology and Embryology = Revue Roumaine De Morphologie Et Embryologie, 2011
Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.
van den Akker PC et al.
Journal of Dermatological Science, 2009
Design and validation of a conformation-sensitive capillary electrophoresis system for mutation identification of the COL7A1 gene with automated peak comparison.
van den Akker PC et al.
Genetic Testing and Molecular Biomarkers, 2009
Genotype-phenotype correlations in six Japanese patients with recessive dystrophic epidermolysis bullosa with the recurrent p.Glu2857X mutation.
Saito M et al.
Journal of Dermatological Science, 2008
Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
Dang N et al.
Experimental Dermatology, 2008
COL7A1 mutational analysis in Korean patients with dystrophic epidermolysis bullosa.
Oh SW et al.
The British Journal of Dermatology, 2007
Recessive dystrophic epidermolysis bullosa: case of non-Hallopeau-Siemens variant with premature termination codons in both alleles.
Yonei N et al.
The Journal of Dermatology, 2006
Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa.
Posteraro P et al.
Biochemical and Biophysical Research Communications, 2005
[Dystrophic epidermolysis bullosa].
Gol'dshteĭn LM et al.
Vestnik Dermatologii I Venerologii, 1976
Newborn Infant With Epidermolysis Bullosa and Ankyloglossia.
McPhie A et al.
Journal of Pediatric Health Care : Official Publication of National Association of Pediatric Nurse Associates & Practitioners, 0