Item Type | Name |
Concept
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Epidermolysis Bullosa
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Concept
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Epidermolysis Bullosa Dystrophica
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Concept
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Epidermolysis Bullosa, Junctional
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Concept
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Epidermolysis Bullosa Simplex
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Academic Article
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Progress in epidermolysis bullosa research: toward treatment and cure.
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Academic Article
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Animal models of epidermolysis bullosa: update 2010.
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Academic Article
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Progress in Epidermolysis Bullosa Research: Summary of DEBRA International Research Conference 2012.
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Academic Article
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The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB.
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Academic Article
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Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.
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Academic Article
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Transplanted Bone Marrow-Derived Circulating PDGFRa+ Cells Restore Type VII Collagen in Recessive Dystrophic Epidermolysis Bullosa Mouse Skin Graft.
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Academic Article
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Reduced Toxicity Conditioning and Allogeneic Hematopoietic Progenitor Cell Transplantation for Recessive Dystrophic Epidermolysis Bullosa.
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Academic Article
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Progress toward Treatment and Cure of Epidermolysis Bullosa: Summary of the DEBRA International Research Symposium EB2015.
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Academic Article
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No evidence that human papillomavirus is responsible for the aggressive nature of recessive dystrophic epidermolysis bullosa-associated squamous cell carcinoma.
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Academic Article
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Type VII collagen regulates expression of OATP1B3, promotes front-to-rear polarity and increases structural organisation in 3D spheroid cultures of RDEB tumour keratinocytes.
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Academic Article
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Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression.
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Academic Article
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Reduced expression of insulin-like growth factor-binding protein-3 (IGFBP-3) in Squamous cell carcinoma complicating recessive dystrophic epidermolysis bullosa.
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Academic Article
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Fibroblast-derived dermal matrix drives development of aggressive cutaneous squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa.
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Academic Article
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Amlexanox enhances premature termination codon read-through in COL7A1 and expression of full length type VII collagen: potential therapy for recessive dystrophic epidermolysis bullosa.
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Academic Article
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Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa.
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Academic Article
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Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.
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Academic Article
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EB2017-Progress in Epidermolysis Bullosa Research toward Treatment and Cure.
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Academic Article
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Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.
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Academic Article
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APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa.
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Academic Article
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Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency.
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Academic Article
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Thrombospondin-1 is a major activator of TGF-beta signaling in recessive dystrophic epidermolysis bullosa fibroblasts.
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Academic Article
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Identification of rigosertib for the treatment of recessive dystrophic epidermolysis bullosa-associated squamous cell carcinoma.
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Academic Article
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Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out".
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Academic Article
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Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica.
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Academic Article
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Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry.
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Academic Article
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Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation.
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Academic Article
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An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.
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Academic Article
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Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.
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Academic Article
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Bone metabolism in children with epidermolysis bullosa.
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Academic Article
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Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa.
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Academic Article
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Revertant mosaicism in recessive dystrophic epidermolysis bullosa.
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Academic Article
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Single nucleotide polymorphism in a commonly utilized LAMB3 primer sequence: implications for mutation detection and haplotype analysis in junctional epidermolysis bullosa.
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Academic Article
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Common IL-31 gene haplotype associated with non-atopic eczema is not implicated in epidermolysis bullosa pruriginosa.
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Academic Article
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New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter.
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Academic Article
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HB-EGF induces COL7A1 expression in keratinocytes and fibroblasts: possible mechanism underlying allogeneic fibroblast therapy in recessive dystrophic epidermolysis Bullosa.
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Academic Article
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Lethal acantholytic epidermolysis bullosa.
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Academic Article
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Novel and recurrent FERMT1 gene mutations in Kindler syndrome.
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Academic Article
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Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin.
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Academic Article
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Case of Kindler syndrome resulting from mutation in the FERMT1 gene.
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Academic Article
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Is adermatoglyphia an additional feature of Kindler Syndrome?
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Academic Article
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Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4).
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Academic Article
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Cord Blood-Derived Stem Cells Suppress Fibrosis and May Prevent Malignant Progression in Recessive Dystrophic Epidermolysis Bullosa.
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Academic Article
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[2470insG, represents the commonest mutation in Mexican patients with dystrophic bullous epidermolysis. A study of 21 families].
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Academic Article
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Serum levels of high mobility group box 1 correlate with disease severity in recessive dystrophic epidermolysis bullosa.
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Academic Article
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Categorizing immunoflourescence mapping in epidermolysis bullosa with pyloric atresia: Use as a broad prognostic indicator.
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Academic Article
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Treatment of hereditary epidermolysis bullosa: updates and future prospects.
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Academic Article
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Human Mesenchymal Stromal Cells Engineered to Express Collagen VII Can Restore Anchoring Fibrils in Recessive Dystrophic Epidermolysis Bullosa Skin Graft Chimeras.
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Academic Article
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Cytoplasmic plaque formation in hemidesmosome development is dependent on SoxF transcription factor function.
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Academic Article
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A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.
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Academic Article
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Blistering skin diseases: a bridge between dermatopathology and molecular biology.
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Academic Article
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Clinical trial of ABCB5+ mesenchymal stem cells for recessive dystrophic epidermolysis bullosa.
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Academic Article
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Sporadic Kindler syndrome with a novel mutation.
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Academic Article
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Prenatal diagnosis of epidermolysis bullosa.
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Academic Article
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Patient-specific naturally gene-reverted induced pluripotent stem cells in recessive dystrophic epidermolysis bullosa.
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Academic Article
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Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa.
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Academic Article
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Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities.
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Academic Article
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Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa.
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Academic Article
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Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression.
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Academic Article
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Bone marrow transplantation for recessive dystrophic epidermolysis bullosa.
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Academic Article
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The natural history of laryngo-onycho-cutaneous syndrome: A case series of six pediatric patients and literature review.
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Academic Article
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Transcriptomic profiling of recessive dystrophic epidermolysis bullosa wounded skin highlights drug repurposing opportunities to improve wound healing.
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Academic Article
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Epidermolysis bullosa.
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Academic Article
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ABE8e adenine base editor precisely and efficiently corrects a recurrent COL7A1 nonsense mutation.
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Academic Article
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Autosomal dominant epidermolysis bullosa simplex exacerbated by hyperkeratotic scabies.
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Academic Article
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Somatic forward (nonrevertant) mosaicism in recessive dystrophic epidermolysis bullosa.
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Academic Article
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Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa.
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Academic Article
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The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.
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Academic Article
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Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB.
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Academic Article
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Kindlin-1 controls Wnt and TGF-? availability to regulate cutaneous stem cell proliferation.
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Academic Article
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Recently Identified Forms of Epidermolysis Bullosa.
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Academic Article
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Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa?Simplex.
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Academic Article
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Induced pluripotent stem cell (iPSC) line MLi-004A derived from a patient with recessive dystrophic epidermolysis bullosa (RDEB).
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Academic Article
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Potential of Systemic Allogeneic Mesenchymal Stromal Cell Therapy for Children with Recessive Dystrophic Epidermolysis Bullosa.
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Academic Article
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Bone marrow transplantation in epidermolysis bullosa.
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Academic Article
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Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa.
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Academic Article
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The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex.
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Academic Article
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Epidermolysis bullosa pruriginosa: a case with prominent histopathologic inflammation.
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Academic Article
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Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense.
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Academic Article
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Plasma metabolomic profiling reflects the malnourished and chronic inflammatory state in recessive dystrophic epidermolysis bullosa.
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Academic Article
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Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa.
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Academic Article
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Venturing into the New Science of?Nucleases.
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Academic Article
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Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex.
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Academic Article
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Revertant mosaicism in Kindler syndrome.
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Academic Article
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What is Kindler syndrome?
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Academic Article
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Treatment of multifactorial anaemia in adults with severe epidermolysis bullosa using intravenous ferric carboxymaltose: a single institution, observational, retrospective study.
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Academic Article
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Kindlin-1 Regulates Keratinocyte Electrotaxis.
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Academic Article
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Promising effect of intravenous immunoglobulin therapy for epidermolysis bullosa pruriginosa.
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Academic Article
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Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa.
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Academic Article
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Preconditioning of mesenchymal stem cells for improved transplantation efficacy in recessive dystrophic epidermolysis bullosa.
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Academic Article
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A de novo COL17A1 splice-site mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa.
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Academic Article
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Kindlin-1 Regulates Epidermal Growth Factor?Receptor Signaling.
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Academic Article
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Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients.
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Academic Article
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Epidermolysis bullosa.
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Academic Article
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Slac2-b Coordinates Extracellular Vesicle Secretion to Regulate Keratinocyte Adhesion and Migration.
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Academic Article
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The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.
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Academic Article
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Complexity of Transcriptional and Translational Interference of Laminin-332 Subunits in Junctional Epidermolysis Bullosa with LAMB3 Mutations.
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Academic Article
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Vitamin C concentrations in patients with epidermolysis bullosa.
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Academic Article
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Kindler syndrome.
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Academic Article
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Efficacy of Human Placental-Derived Stem Cells in Collagen VII Knockout (Recessive Dystrophic Epidermolysis Bullosa) Animal Model.
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Academic Article
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The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome.
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Academic Article
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Current topics in Epidermolysis bullosa: Pathophysiology and therapeutic challenges.
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Academic Article
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The epidemiology of epidermolysis bullosa in England and Wales: data from the national epidermolysis bullosa database.
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Academic Article
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Clinical subtypes and molecular basis of epidermolysis bullosa in Kuwait.
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Academic Article
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Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.
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Academic Article
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Cutaneous Squamous Cell Carcinoma in Epidermolysis Bullosa: a 28-year Retrospective Study.
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Academic Article
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Restoring type VII collagen in skin.
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Academic Article
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ABCB5+ mesenchymal stromal cells facilitate complete and durable wound closure in recessive dystrophic epidermolysis bullosa.
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Academic Article
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Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa.
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Academic Article
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Th2 response drives itch in dystrophic epidermolysis bullosa pruriginosa: A case-control study.
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Academic Article
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Creation and characterization of novel rat model for recessive dystrophic epidermolysis bullosa: Frameshift mutation of the Col7a1 gene leads to severe blistered phenotype.
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Academic Article
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Corrigendum to ABCB5+ mesenchymal stromal cells facilitate complete and durable wound closure in recessive dystrophic epidermolysis bullosa [Cytotherapy 25 (2023) 782-788/1562].
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Academic Article
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Lentiviral expression of wild-type LAMA3A restores cell adhesion in airway basal cells from children with epidermolysis bullosa.
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Academic Article
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Dominant dystrophic epidermolysis bullosa is associated with glycolytically active GATA3+ Th2 cells which may contribute to pruritus in lesional skin.
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Academic Article
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Innovations in the Treatment of Dystrophic Epidermolysis Bullosa (DEB): Current Landscape and Prospects.
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Academic Article
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Beyond the Surface: A Narrative Review Examining the Systemic Impacts of Recessive Dystrophic Epidermolysis Bullosa.
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Academic Article
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Induced pluripotent stem cell (iPSC) line MLi005-A derived from a patient with dominant dystrophic epidermolysis bullosa (DDEB).
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Academic Article
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Cytosine Deaminase Base Editing to Restore COL7A1 in Dystrophic Epidermolysis Bullosa Human: Murine Skin Model.
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Academic Article
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Investigational Treatments for Epidermolysis Bullosa.
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Academic Article
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Lipid Nanoparticles Efficiently Deliver the Base Editor ABE8e for COL7A1 Correction in Dystrophic Epidermolysis Bullosa Fibroblasts In?Vitro.
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Academic Article
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Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular beta4 integrin mutation.
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Academic Article
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Beremagene geperpavec (B-VEC) gene therapy for the treatment of cutaneous wounds in patients with dystrophic epidermolysis bullosa: a critically appraised research paper.
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Academic Article
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Costs of UK community care for individuals with recessive dystrophic epidermolysis bullosa: Findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study.
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Academic Article
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Gluten-sensitive enteropathy in recessive dystrophic epidermolysis bullosa.
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Academic Article
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Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study.
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