John A. McGrath

Research interests

Publications

• Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility

  British Journal of Dermatology · 2020 · https://doi.org/10.1111/bjd.18921

• Epidermolysis bullosa

  Nature Reviews Disease Primers · 2020 · https://doi.org/10.1038/s41572-020-0210-0

• Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation

  Cell · 2016 · https://doi.org/10.1016/j.cell.2016.09.001

• Potential of Systemic Allogeneic Mesenchymal Stromal Cell Therapy for Children with Recessive Dystrophic Epidermolysis Bullosa

  Journal of Investigative Dermatology · 2015 · https://doi.org/10.1038/jid.2015.158

• Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification

  Journal of the American Academy of Dermatology · 2014 · https://doi.org/10.1016/j.jaad.2014.01.903

• Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

  Nature Genetics · 2013 · https://doi.org/10.1038/ng.2739

• PDGFRα-positive cells in bone marrow are mobilized by high mobility group box 1 (HMGB1) to regenerate injured epithelia

  Proceedings of the National Academy of Sciences · 2011 · https://doi.org/10.1073/pnas.1016753108

• Bone Marrow Transplantation for Recessive Dystrophic Epidermolysis Bullosa

  New England Journal of Medicine · 2010 · https://doi.org/10.1056/nejmoa0910501

• The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

  Journal of the American Academy of Dermatology · 2008 · https://doi.org/10.1016/j.jaad.2008.02.004

• Potential of Fibroblast Cell Therapy for Recessive Dystrophic Epidermolysis Bullosa

  Journal of Investigative Dermatology · 2008 · https://doi.org/10.1038/jid.2008.78

• The filaggrin story: novel insights into skin-barrier function and disease

  Trends in Molecular Medicine · 2007 · https://doi.org/10.1016/j.molmed.2007.10.006

• The role of fibroblasts in tissue engineering and regeneration

  British Journal of Dermatology · 2007 · https://doi.org/10.1111/j.1365-2133.2007.07914.x

• Phenotype, Genotype, and Sustained Response to Anakinra in 22 Patients With Autoinflammatory Disease Associated With CIAS-1/NALP3 Mutations

  Archives of Dermatology · 2006 · https://doi.org/10.1001/archderm.142.12.1591

• Accumulation of Krebs cycle intermediates and over-expression of HIF1α in tumours which result from germline FH and SDH mutations

  Human Molecular Genetics · 2005 · https://doi.org/10.1093/hmg/ddi227

• Anatomy and Organization of Human Skin

  Journal · 2004 · https://doi.org/10.1002/9780470750520.ch3

• Loss of Kindlin-1, a Human Homolog of the Caenorhabditis elegans Actin–Extracellular-Matrix Linker Protein UNC-112, Causes Kindler Syndrome

  The American Journal of Human Genetics · 2003 · https://doi.org/10.1086/376609

• Autoantibodies to extracellular matrix protein 1 in lichen sclerosus

  The Lancet · 2003 · https://doi.org/10.1016/s0140-6736(03)13863-9

• Mutations in the Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis

  The American Journal of Human Genetics · 2003 · https://doi.org/10.1086/378418

• Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63

  Human Molecular Genetics · 2001 · https://doi.org/10.1093/hmg/10.3.221

• Revised classification system for inherited epidermolysis bullosa

  Journal of the American Academy of Dermatology · 2000 · https://doi.org/10.1067/mjd.2000.106369

• Alopecia Universalis Associated with a Mutation in the Human hairless Gene

  Science · 1998 · https://doi.org/10.1126/science.279.5351.720

• Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

  Nature Genetics · 1997 · https://doi.org/10.1038/ng1097-240

• Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.

  Genes & Development · 1996 · https://doi.org/10.1101/gad.10.14.1724

• A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome

  Nature Genetics · 1996 · https://doi.org/10.1038/ng0596-70

• Mutations in the 180–kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa

  Nature Genetics · 1995 · https://doi.org/10.1038/ng0995-83

• Epidermolysis Bullosa Simplex (Dowling-Meara Type) Is a Genetic Disease Characterized by an Abnormal Keratin-Filament Network Involving Keratins K5 and K14

  Journal of Investigative Dermatology · 1991 · https://doi.org/10.1111/1523-1747.ep12491885

Current projects

No projects listed.