• Publications
  • Influence
Revertant Mosaicism in Epidermolysis Bullosa Caused by Mitotic Gene Conversion
Mitotic gene conversion acting as reverse mutation has not been previously demonstrated in human. We report here that the revertant mosaicism of a compound heterozygous proband with an autosomalExpand
  • 231
  • 8
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa.
The cytoplasmic plaque protein desmoplakin (DP), which is located in desmosomes, plays a major role in epithelial and muscle cell adhesion by linking the transmembrane cadherins to the cytoplasmicExpand
  • 196
  • 6
  • PDF
U‐serrated immunodeposition pattern differentiates type VII collagen targeting bullous diseases from other subepidermal bullous autoimmune diseases
Background  Epidermolysis bullosa acquisita (EBA) can be differentiated from other subepidermal bullous diseases by sophisticated techniques such as immunoelectron microscopy, salt‐split skin antigenExpand
  • 133
  • 6
Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex.
We studied a kindred with recessive epidermolysis bullosa simplex in which the affected members lacked expression of the basal cell keratin 14. The patients had severe generalized skin blisteringExpand
  • 99
  • 5
The many faces of epidermolysis bullosa acquisita after serration pattern analysis by direct immunofluorescence microscopy
Background  The inflammatory variant of epidermolysis bullosa may mimic a form of pemphigoid.
  • 78
  • 4
Laboratory diagnosis of paraneoplastic pemphigus
Paraneoplastic pemphigus (PNP) is a multiorgan disease characterized by antibodies against plakins, desmogleins and the α2‐macroglobulin‐like‐1 (A2ML1) protein, in association with an underlyingExpand
  • 68
  • 4
Adhesive stripping to remove epidermis in junctional epidermolysis bullosa for revertant cell therapy
Background  Replacing mutant skin in epidermolysis bullosa (EB) by epithelial sheets of transduced autologous keratinocytes is the essential surgical step of ex vivo gene therapy. The same appliesExpand
  • 67
  • 3
  • PDF
Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex.
Integrin alpha6beta4 is a hemidesmosomal transmembrane molecule involved in maintaining basal cell-matrix adhesion through interaction of the large intracytoplasmic tail of the beta4 subunit with theExpand
  • 71
  • 3
180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa.
Generalized atrophic benign epidermolysis bullosa (GABEB) is a form of nonlethal junctional epidermolysis bullosa characterized by universal alopecia and atrophy of the skin. We report a deficiencyExpand
  • 161
  • 2
  • PDF
Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa.
Revertant mosaicism by somatic reversion of inherited mutations has been described for a number of genetic diseases. Several mechanisms can underlie this reversion process, such as gene conversion,Expand
  • 72
  • 2
  • PDF