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The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB.
TLDR
A revised classification system that takes into account the new advances, as well as encompassing other inherited diseases that should also be included within the EB spectrum, based on the presence of blistering and mechanical fragility is presented. Expand
Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.
TLDR
A new approach to classification of EB subtypes is introduced that takes into account sequentially the major EB type present, phenotypic characteristics, mode of inheritance, targeted protein and its relative expression in skin, gene involved and type of mutation present, and--when possible--specific mutation(s) and their location(s). Expand
A simplified laminin nomenclature.
TLDR
A new identification system for a trimer using three Arabic numerals, based on the alpha, beta and gamma chain numbers is introduced, which is introduced for laminin trimers. Expand
Desmoglein 4 in Hair Follicle Differentiation and Epidermal Adhesion Evidence from Inherited Hypotrichosis and Acquired Pemphigus Vulgaris
TLDR
Evidence is provided that desmoglein 4 is a key mediator of keratinocyte cell adhesion in the hair follicle, where it coordinates the transition from proliferation to differentiation. Expand
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.
TLDR
Reduced host defense and increased carcinogenic potential in KID illustrate that gap junction communication plays not only a crucial role in epithelial homeostasis and differentiation but also in immune response and epidermal carcinogenesis. Expand
Familial pityriasis rubra pilaris is caused by mutations in CARD14.
TLDR
The present data demonstrate that autosomal-dominant PRP is allelic to familial psoriasis, which was recently shown to be caused by mutations in CARD14, a known activator of nuclear factor kappa B signaling, which has been implicated in inflammatory disorders. Expand
Integrin β4 mutations associated with junctional epidermolysis bullosa with pyloric atresia
TLDR
The results implicate mutations in the β4 integrin gene in some forms of PA–JEB, which is a rare inherited disorder characterized by pyloric stenosis and blistering of the skin as primary manifestations. Expand
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes
TLDR
Examination of the mutation database suggested phenotype–genotype correlations, contributing to the improved subclassification of DEB with prognostic implications, and forms the basis for accurate genetic counselling and prenatal diagnosis in families at risk for recurrence. Expand
Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.
TLDR
The molecular basis of MD-EBS in this family is established and the important structural role for plectin in cytoskeleton-membrane adherence in both skin and muscle is clearly demonstrated. Expand
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