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McGrath, John
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Concept Epidermolysis Bullosa Dystrophica
Academic Article Transplanted bone marrow-derived circulating PDGFRa+ cells restore type VII collagen in recessive dystrophic epidermolysis bullosa mouse skin graft.
Academic Article Reduced Toxicity Conditioning and Allogeneic Hematopoietic Progenitor Cell Transplantation for Recessive Dystrophic Epidermolysis Bullosa.
Academic Article No evidence that human papillomavirus is responsible for the aggressive nature of recessive dystrophic epidermolysis bullosa-associated squamous cell carcinoma.
Academic Article Type VII collagen regulates expression of OATP1B3, promotes front-to-rear polarity and increases structural organisation in 3D spheroid cultures of RDEB tumour keratinocytes.
Academic Article Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression.
Academic Article Reduced expression of insulin-like growth factor-binding protein-3 (IGFBP-3) in Squamous cell carcinoma complicating recessive dystrophic epidermolysis bullosa.
Academic Article Fibroblast-derived dermal matrix drives development of aggressive cutaneous squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa.
Academic Article Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa.
Academic Article Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa.
Academic Article APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa.
Academic Article 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.
Academic Article Thrombospondin-1 Is a Major Activator of TGF-? Signaling in Recessive Dystrophic Epidermolysis Bullosa Fibroblasts.
Academic Article Identification of Rigosertib for the Treatment of Recessive Dystrophic Epidermolysis Bullosa-Associated Squamous Cell Carcinoma.
Academic Article Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry.
Academic Article Collagen VII maintains proteostasis in dermal fibroblasts by scaffolding TANGO1 cargo.
Academic Article Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.
Academic Article Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa.
Academic Article Revertant mosaicism in recessive dystrophic epidermolysis bullosa.
Academic Article Common IL-31 gene haplotype associated with non-atopic eczema is not implicated in epidermolysis bullosa pruriginosa.
Academic Article HB-EGF induces COL7A1 expression in keratinocytes and fibroblasts: possible mechanism underlying allogeneic fibroblast therapy in recessive dystrophic epidermolysis Bullosa.
Academic Article Cord Blood-Derived Stem Cells Suppress Fibrosis and May Prevent Malignant Progression in Recessive Dystrophic Epidermolysis Bullosa.
Academic Article [2470insG, represents the commonest mutation in Mexican patients with dystrophic bullous epidermolysis. A study of 21 families].
Academic Article Serum levels of high mobility group box 1 correlate with disease severity in recessive dystrophic epidermolysis bullosa.
Academic Article Treatment of hereditary epidermolysis bullosa: updates and future prospects.
Academic Article Human Mesenchymal Stromal Cells Engineered to Express Collagen VII Can Restore Anchoring Fibrils in Recessive Dystrophic Epidermolysis Bullosa Skin Graft Chimeras.
Academic Article Clinical trial of ABCB5+ mesenchymal stem cells for recessive dystrophic epidermolysis bullosa.
Academic Article Patient-specific naturally gene-reverted induced pluripotent stem cells in recessive dystrophic epidermolysis bullosa.
Academic Article Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa.
Academic Article Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities.
Academic Article Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa.
Academic Article Bone marrow transplantation for recessive dystrophic epidermolysis bullosa.
Academic Article Transcriptomic profiling of recessive dystrophic epidermolysis bullosa wounded skin highlights drug repurposing opportunities to improve wound healing.
Academic Article ABE8e adenine base editor precisely and efficiently corrects a recurrent COL7A1 nonsense mutation.
Academic Article Somatic forward (nonrevertant) mosaicism in recessive dystrophic epidermolysis bullosa.
Academic Article Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa.
Academic Article The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.
Academic Article Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB.
Academic Article Induced pluripotent stem cell (iPSC) line MLi-004A derived from a patient with recessive dystrophic epidermolysis bullosa (RDEB).
Academic Article Potential of Systemic Allogeneic Mesenchymal Stromal Cell Therapy for Children with Recessive Dystrophic Epidermolysis Bullosa.
Academic Article Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa.
Academic Article Epidermolysis bullosa pruriginosa: a case with prominent histopathologic inflammation.
Academic Article Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense.
Academic Article Plasma metabolomic profiling reflects the malnourished and chronic inflammatory state in recessive dystrophic epidermolysis bullosa.
Academic Article Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa.
Academic Article Venturing into the New Science of?Nucleases.
Academic Article Promising effect of intravenous immunoglobulin therapy for epidermolysis bullosa pruriginosa.
Academic Article Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa.
Academic Article Preconditioning of mesenchymal stem cells for improved transplantation efficacy in recessive dystrophic epidermolysis bullosa.
Academic Article Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients.
Academic Article The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.
Academic Article Vitamin C concentrations in patients with epidermolysis bullosa.
Academic Article Efficacy of Human Placental-Derived Stem Cells in Collagen VII Knockout (Recessive Dystrophic Epidermolysis Bullosa) Animal Model.
Academic Article Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.
Academic Article Cutaneous Squamous Cell Carcinoma in Epidermolysis Bullosa: a 28-year Retrospective Study.
Academic Article Restoring type VII collagen in skin.
Academic Article ABCB5+ mesenchymal stromal cells facilitate complete and durable wound closure in recessive dystrophic epidermolysis bullosa.
Academic Article Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa.
Academic Article Th2 response drives itch in dystrophic epidermolysis bullosa pruriginosa: A case-control study.
Academic Article Creation and characterization of novel rat model for recessive dystrophic epidermolysis bullosa: Frameshift mutation of the Col7a1 gene leads to severe blistered phenotype.
Academic Article Corrigendum to ABCB5+ mesenchymal stromal cells facilitate complete and durable wound closure in recessive dystrophic epidermolysis bullosa [Cytotherapy 25 (2023) 782-788/1562].
Academic Article Dominant dystrophic epidermolysis bullosa is associated with glycolytically active GATA3+ T helper 2 cells which may contribute to pruritus in lesional skin.
Academic Article Innovations in the Treatment of Dystrophic Epidermolysis Bullosa (DEB): Current Landscape and Prospects.
Academic Article Beyond the Surface: A Narrative Review Examining the Systemic Impacts of Recessive Dystrophic Epidermolysis Bullosa.
Academic Article Induced pluripotent stem cell (iPSC) line MLi005-A derived from a patient with dominant dystrophic epidermolysis bullosa (DDEB).
Academic Article Cytosine Deaminase Base Editing to Restore COL7A1 in Dystrophic Epidermolysis Bullosa Human: Murine Skin Model.
Academic Article Lipid Nanoparticles Efficiently Deliver the Base Editor ABE8e for COL7A1 Correction in Dystrophic Epidermolysis Bullosa Fibroblasts In?Vitro.
Academic Article Beremagene geperpavec (B-VEC) gene therapy for the treatment of cutaneous wounds in patients with dystrophic epidermolysis bullosa: a critically appraised research paper.
Academic Article Costs of UK community care for individuals with recessive dystrophic epidermolysis bullosa: Findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study.
Academic Article Gluten-sensitive enteropathy in recessive dystrophic epidermolysis bullosa.
Academic Article Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study.
Academic Article Pain in recessive dystrophic epidermolysis bullosa (RDEB): findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES).
Academic Article Transformation-specific matrix metalloproteinases (MMP)-7 and MMP-13 are expressed by tumour cells in epidermolysis bullosa-associated squamous cell carcinomas.
Academic Article Intracellular expression of type VII collagen during wound healing in severe recessive dystrophic epidermolysis bullosa and normal human skin.
Academic Article Epidermolysis bullosa pruriginosa in association with lichen planopilaris.
Academic Article Heterogeneous addiction to transforming growth factor-beta signalling in recessive dystrophic epidermolysis bullosa-associated cutaneous squamous cell carcinoma.
Academic Article Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression.
Academic Article A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa.
Academic Article EBGene trial: patient preselection outcomes for the European GENEGRAFT ex?vivo phase I/II gene therapy trial for recessive dystrophic epidermolysis bullosa.
Academic Article Novel missense mutation in a patient with recessive pretibial epidermolysis bullosa and a mild phenotype.
Academic Article Mitten deformity in severe generalized recessive dystrophic epidermolysis bullosa: histological, immunofluorescence, and ultrastructural study.
Academic Article Altered expression of L-arginine metabolism pathway genes in chronic wounds in recessive dystrophic epidermolysis bullosa.
Academic Article LAMB3 mutations in generalized atrophic benign epidermolysis bullosa: consequences at the mRNA and protein levels.
Academic Article Revertant mosaic fibroblasts in recessive dystrophic epidermolysis bullosa.
Academic Article Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.
Academic Article Immunohistochemical, ultrastructural, and molecular features of Kindler syndrome distinguish it from dystrophic epidermolysis bullosa.
Academic Article Recurrent molecular abnormalities in type VII collagen in Southern Italian patients with recessive dystrophic epidermolysis bullosa.
Academic Article Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1.
Academic Article Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.
Academic Article Ultrastructural clues to genetic disorders of skin: the dermal-epidermal junction.
Academic Article The molecular basis of dystrophic epidermolysis bullosa in Mexico.
Academic Article A recurrent COL7A1 mutation, R2814X, in British patients with recessive dystrophic epidermolysis bullosa.
Academic Article Suppression of TGF? and Angiogenesis by Type VII Collagen in Cutaneous SCC.
Academic Article Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.
Academic Article First trimester DNA-based exclusion of recessive dystrophic epidermolysis bullosa from chorionic villus sampling.
Academic Article Expression of mutant p53 gene in squamous carcinoma arising in patients with recessive dystrophic epidermolysis bullosa.
Academic Article Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations.
Academic Article Late-onset pretibial recessive dystrophic epidermolysis bullosa.
Academic Article Globalization of DNA-based prenatal diagnosis for recessive dystrophic epidermolysis bullosa.
Academic Article A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa.
Academic Article Single cell PCR amplification of microsatellites flanking the COL7A1 gene and suitability for preimplantation genetic diagnosis of Hallopeau-Siemens recessive dystrophic epidermolysis bullosa.
Academic Article Epidermolysis bullosa (EB) pruriginosa associated with recessive homozygous mutations in COL7A1: case report of a rare EB genotype-phenotype.
Academic Article 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.
Academic Article The potential of gene therapy for recessive dystrophic epidermolysis bullosa.
Academic Article Metastatic squamous cell carcinoma resembling angiosarcoma complicating dystrophic epidermolysis bullosa.
Academic Article Immune tolerance of allogeneic haematopoietic cell transplantation supports donor epidermal grafting of recessive dystrophic epidermolysis bullosa chronic wounds.
Academic Article Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa.
Academic Article Frameshift mutations in the type VII collagen gene (COL7A1) in five Mexican cousins with recessive dystrophic epidermolysis bullosa.
Academic Article A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosa.
Academic Article Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: positional effects of premature termination codon mutations on clinical severity. Japanese Collaborative Study Group on Epidermolysis Bullosa.
Academic Article Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa.
Academic Article Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: results of a randomized, vehicle-controlled trial.
Academic Article Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.
Academic Article Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa.
Academic Article Stem cell therapies for recessive dystrophic epidermolysis bullosa.
Academic Article Fibrillin immunoreactivity is associated with normal or fragmented elastic microfibrils at the dermal-epidermal junction in recessive dystrophic epidermolysis bullosa.
Academic Article Milestone events in recessive dystrophic epidermolysis bullosa: findings of the PEBLES study.
Academic Article Cultured keratinocyte allografts and wound healing in severe recessive dystrophic epidermolysis bullosa.
Academic Article Bone marrow transplant with post-transplant cyclophosphamide for recessive dystrophic epidermolysis bullosa expands the related donor pool and permits tolerance of nonhaematopoietic cellular grafts.
Academic Article Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features.
Academic Article Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity.
Academic Article Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa.
Academic Article Thalidomide in the management of epidermolysis bullosa pruriginosa.
Academic Article Dominant dystrophic epidermolysis bullosa presenting as familial nail dystrophy.
Academic Article The course of pregnancy and childbirth in three mothers with recessive dystrophic epidermolysis bullosa.
Academic Article Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa.
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  • Epidermolysis Bullosa Dystrophica