Revertant Mosaicism in Epidermolysis Bullosa Caused by Mitotic Gene Conversion

Marcel F. Jonkman, Hans Scheffer, Rein P. Stulp, +6

Cell

Cell DivisionGeneticsGenetic EngineeringMolecular GeneticsChromosomal Rearrangement +3

Multiple Correcting COL17A1 Mutations in Patients with Revertant Mosaicism of Epidermolysis Bullosa

Anna M.G. Pasmooij, Hendri H. Pas, Franciska C.L. Deviaene, +2

The American Journal of Human Genetics

GeneticsPathologyMolecular GeneticsDermatologyDermatopathology +3

Deletion of a Cytoplasmic Domain of Integrin β4 Causes Epidermolysis Bullosa Simplex1

Marcel F. Jonkman, Hendri H. Pas, Miranda Nijenhuis, +2

Journal of Investigative Dermatology

Signal TransductionCytoplasmic DomainEndocytic PathwayPathologyCell-matrix Interaction +7

Partial Revertant Mosaicism of Keratin 14 in a Patient with Recessive Epidermolysis Bullosa Simplex11Part of this paper was presented at the 2nd Scientific Meeting of the Dutch Society for Experimental Dermatology, Lunteren, the Netherlands, February 8, 2001 and on the 30th Annual Meeting of the European Society for Dermatological Research, Berlin, September 22, 2000.

Petra H.L. Schuilenga‐Hut, Hans Scheffer, Charles H.C.M. Buys, +3

Journal of Investigative Dermatology

Cutaneous BiologyHistopathologyKeratin 14PathologyClinical Dermatology +6

Natural Gene Therapy May Occur in All Patients with Generalized Non-Herlitz Junctional Epidermolysis Bullosa with COL17A1 Mutations

Anna M.G. Pasmooij, Miranda Nijenhuis, Renske Brander, +1

Journal of Investigative Dermatology

PathologyCol17a1 MutationsWound HealingDermatologyDermatopathology +3

Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex

Katarzyna B. Gostyńska, Miranda Nijenhuis, Henny H. Lemmink, +6

Human Molecular Genetics

GeneticsPathologyMolecular GeneticsPlec MutationsDermatology +14

Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: Expansion of the mutation database and unusual phenotype–genotype correlations

Peter C. van den Akker, Anthonie J. van Essen, Marian M.J. Kraak, +7

Journal of Dermatological Science

Mutation DatabaseUnusual Phenotype–genotype CorrelationsGeneticsGenetic EpidemiologyPathology +5

Type XVII Collagen (BP180) and LAD-1 are Present as Separate Trimeric Complexes

Hendri H. Pas, Guus J. Kloosterhuis, Miranda Nijenhuis, +3

Journal of Investigative Dermatology

BiochemistryNatural SciencesMolecular BiologyType Xvii CollagenSeparate Trimeric Complexes

Comparison of Two Diagnostic Assays for Anti-Laminin 332 Mucous Membrane Pemphigoid

Stephanie Goletz, Federica Giurdanella, Maike M. Holtsche, +7

Frontiers in Immunology

Autoimmune DiseaseLaboratory ImmunologyImmunodeficienciesHematologyHistopathology +13