M F Jonkman

Summary

Affiliation: Groningen University Hospital
Country: The Netherlands

Publications

  1. ncbi request reprint Hereditary skin diseases of hemidesmosomes
    M F Jonkman
    Department of Dermatology, University Hospital Groningen, The Netherlands
    J Dermatol Sci 20:103-21. 1999
  2. ncbi request reprint [From gene to disease; epidermolysis bullosa due to mutations in proteins in or around the hemidesmosome]
    M F Jonkman
    Academisch Ziekenhuis, afd Dermatologie, Centrum voor Blaarziekten, Hanzeplein 1, 9713 GZ Groningen
    Ned Tijdschr Geneeskd 147:1108-13. 2003
  3. pmc Enhanced diagnostic immunofluorescence using biopsies transported in saline
    Robert M Vodegel
    Centre for Blistering Diseases, Department of Dermatology, Groningen University Hospital, Groningen, The Netherlands
    BMC Dermatol 4:10. 2004
  4. ncbi request reprint Revertant mosaicism in human genetic disorders
    M F Jonkman
    Department of Dermatology, University Hospital Groningen, Groningen, The Netherlands
    Am J Med Genet 85:361-4. 1999
  5. ncbi request reprint Inflammatory variant of epidermolysis bullosa acquisita with IgG autoantibodies against type VII collagen and laminin alpha3
    M F Jonkman
    Department of Dermatology, University of Groningen, The Netherlands
    Arch Dermatol 136:227-31. 2000
  6. ncbi request reprint Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex
    Marcel F Jonkman
    Center for Blistering Skin Diseases, Department of Dermatology, Groningen University Hospital, Groningen, The Netherlands
    J Invest Dermatol 119:1275-81. 2002
  7. ncbi request reprint Natural repair mechanisms in correcting pathogenic mutations in inherited skin disorders
    M F Jonkman
    Department of Dermatology, Groningen University Hospital, Groningen, The Netherlands
    Clin Exp Dermatol 28:625-31. 2003
  8. ncbi request reprint A very mild form of non-Herlitz junctional epidermolysis bullosa: BP180 rescue by outsplicing of mutated exon 30 coding for the COL15 domain
    A M G Pasmooij
    Centre for Blistering Diseases, Department of Dermatology, University Hospital Groningen, Groningen, The Netherlands
    Exp Dermatol 13:125-8. 2004
  9. doi request reprint Antiplectin autoantibodies in subepidermal blistering diseases
    J J A Buijsrogge
    Centre for Blistering Diseases, Department of Dermatology, University Medical Centre Groningen, 9700 RB Groningen, The Netherlands
    Br J Dermatol 161:762-71. 2009
  10. ncbi request reprint Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa
    H Scheffer
    Department of Medical Genetics, University of Groningen, The Netherlands
    Hum Genet 100:230-5. 1997

Collaborators

Detail Information

Publications65

  1. ncbi request reprint Hereditary skin diseases of hemidesmosomes
    M F Jonkman
    Department of Dermatology, University Hospital Groningen, The Netherlands
    J Dermatol Sci 20:103-21. 1999
    ..This review summarises our current knowledge of the molecular pathology of hemidesmosomes caused by hereditary skin disease or gene targeting experiment...
  2. ncbi request reprint [From gene to disease; epidermolysis bullosa due to mutations in proteins in or around the hemidesmosome]
    M F Jonkman
    Academisch Ziekenhuis, afd Dermatologie, Centrum voor Blaarziekten, Hanzeplein 1, 9713 GZ Groningen
    Ned Tijdschr Geneeskd 147:1108-13. 2003
    ..The diagnosis is on the basis of the medical history, clinical findings, immunofluorescence microscopy, electron microscopy and DNA studies. The current treatment is still primarily symptomatic and prophylactic...
  3. pmc Enhanced diagnostic immunofluorescence using biopsies transported in saline
    Robert M Vodegel
    Centre for Blistering Diseases, Department of Dermatology, Groningen University Hospital, Groningen, The Netherlands
    BMC Dermatol 4:10. 2004
    ..In such cases false negative results are easily obtained due to the relatively high dermal "background" fluorescence produced by polyclonal anti-human IgG fluorescein conjugates...
  4. ncbi request reprint Revertant mosaicism in human genetic disorders
    M F Jonkman
    Department of Dermatology, University Hospital Groningen, Groningen, The Netherlands
    Am J Med Genet 85:361-4. 1999
    ..Somatic reversion of inherited mutations is known for many years in plant breeding, however it was recognized only recently in humans. The concept of revertant mosaicism is important in medical genetics...
  5. ncbi request reprint Inflammatory variant of epidermolysis bullosa acquisita with IgG autoantibodies against type VII collagen and laminin alpha3
    M F Jonkman
    Department of Dermatology, University of Groningen, The Netherlands
    Arch Dermatol 136:227-31. 2000
    ..Patients with inflammatory EBA have IgG autoantibodies against type VII collagen. Patients with anti-epiligrin cicatricial pemphigoid have IgG autoantibodies against laminin 5...
  6. ncbi request reprint Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex
    Marcel F Jonkman
    Center for Blistering Skin Diseases, Department of Dermatology, Groningen University Hospital, Groningen, The Netherlands
    J Invest Dermatol 119:1275-81. 2002
    ....
  7. ncbi request reprint Natural repair mechanisms in correcting pathogenic mutations in inherited skin disorders
    M F Jonkman
    Department of Dermatology, Groningen University Hospital, Groningen, The Netherlands
    Clin Exp Dermatol 28:625-31. 2003
    ....
  8. ncbi request reprint A very mild form of non-Herlitz junctional epidermolysis bullosa: BP180 rescue by outsplicing of mutated exon 30 coding for the COL15 domain
    A M G Pasmooij
    Centre for Blistering Diseases, Department of Dermatology, University Hospital Groningen, Groningen, The Netherlands
    Exp Dermatol 13:125-8. 2004
    ..Immunofluorescence of skin sections showed diminished, but correctly localised expression of BP180, and this, in concert with the mild clinical phenotype, suggests that this COL15 mutated BP180 is still partly functional...
  9. doi request reprint Antiplectin autoantibodies in subepidermal blistering diseases
    J J A Buijsrogge
    Centre for Blistering Diseases, Department of Dermatology, University Medical Centre Groningen, 9700 RB Groningen, The Netherlands
    Br J Dermatol 161:762-71. 2009
    ..Hemidesmosomal proteins may become targets of autoimmunity in subepidermal blistering diseases. Well-known recognized autoantigens are the intracellular plaque protein BP230, the transmembrane BP180 and its shed ectodomain LAD-1...
  10. ncbi request reprint Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa
    H Scheffer
    Department of Medical Genetics, University of Groningen, The Netherlands
    Hum Genet 100:230-5. 1997
    ..Our results demonstrate that involvement of a candidate gene can be confirmed by looking for identity by descent of highly informative intragenic markers...
  11. ncbi request reprint False-negative results in immunoblot assay of serum IgA antibodies reactive with the 180-kDa bullous pemphigoid antigen: the importance of primary incubation temperature
    H H Pas
    Centre for Blistering Skin Diseases, Department of Dermatology, Groningen University Hospital, The Netherlands
    Br J Dermatol 145:986-9. 2001
    ..Identification of the targeted autoantigen is usually attempted by immunoblotting. Although immunoblotting works well for human IgG, the method is less successful for IgA and often no or only faint signals are obtained...
  12. ncbi request reprint Features of epidermolysis bullosa simplex due to mutations in the ectodomain of type XVII collagen
    A M G Pasmooij
    Centre for Blistering Skin Diseases, Department of Dermatology, Groningen University Hospital, Hanzeplein 1, NL 9700 RB Groningen, The Netherlands
    Br J Dermatol 151:669-74. 2004
    ..Mutations in COL17A1, coding for type XVII collagen, cause junctional epidermolysis bullosa with an ultrastructural plane of cleavage through the lamina lucida of the epidermal basement membrane...
  13. doi request reprint Ultrastructure of acantholysis in pemphigus foliaceus re-examined from the current perspective
    G van der Wier
    Centre for Blistering Diseases, Department of Dermatology, University Medical Centre Groningen, University of Groningen, Hanzeplein 1, 9700 RB Groningen, The Netherlands
    Br J Dermatol 167:1265-71. 2012
    ....
  14. doi request reprint Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands
    W Y Yuen
    Department of Dermatology, Centre for Blistering Diseases, University Medical Centre Groningen, University of Groningen, 9700 RB Groningen, The Netherlands
    Br J Dermatol 165:1314-22. 2011
    ..Junctional epidermolysis bullosa, type Herlitz (JEB-H) is a lethal, autosomal recessive blistering disease caused by null mutations in the genes coding for the lamina lucida/densa adhesion protein laminin-332 (LAMB3, LAMA3 and LAMC2)...
  15. ncbi request reprint U-serrated immunodeposition pattern differentiates type VII collagen targeting bullous diseases from other subepidermal bullous autoimmune diseases
    R M Vodegel
    Center for Blistering Diseases, Department of Dermatology, University Hospital Groningen, PO Box 30 001, 9700 RB Groningen, The Netherlands
    Br J Dermatol 151:112-8. 2004
    ....
  16. ncbi request reprint Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands
    A M G Pasmooij
    Centre for Blistering Diseases, Department of Dermatology, University Medical Centre Groningen, University of Groningen, Hanzeplein 1, Groningen, The Netherlands
    Br J Dermatol 156:861-70. 2007
    ..Mutations in the gene COL17A1 coding for type XVII collagen cause non-Herlitz junctional epidermolysis bullosa (nH-JEB)...
  17. ncbi request reprint Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion
    M F Jonkman
    Department of Dermatology, University Hospital Groningen, The Netherlands
    Cell 88:543-51. 1997
    ..Revertant mosaicism represents a way of natural gene therapy...
  18. doi request reprint Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients
    M C Bolling
    Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, The Netherlands
    Br J Dermatol 164:637-44. 2011
    ..Previous reports of KRT5 and KRT14 mutations suggest a correlation between the location of the mutation and the severity of the associated EBS phenotype...
  19. doi request reprint Keratolysis exfoliativa (dyshidrosis lamellosa sicca): a distinct peeling entity
    Y Y Chang
    Centre for Blistering Diseases, Department of Dermatology, University of Groningen, University Medical Centre Groningen, Hanzeplein 1, 9700 RB Groningen, The Netherlands
    Br J Dermatol 167:1076-84. 2012
    ..KE may also resemble acral peeling skin syndrome and localized epidermolysis bullosa simplex. Although KE is a common disorder, it is a rarely reported and is an under-recognized dermatosis...
  20. doi request reprint The many faces of epidermolysis bullosa acquisita after serration pattern analysis by direct immunofluorescence microscopy
    J J A Buijsrogge
    Centre for Blistering Diseases, Department of Dermatology, University Medical Centre Groningen, University of Groningen, Groningen 9700 RB, The Netherlands
    Br J Dermatol 165:92-8. 2011
    ..The inflammatory variant of epidermolysis bullosa may mimic a form of pemphigoid...
  21. ncbi request reprint Coexistence of IgA antibodies to desmogleins 1 and 3 in pemphigus vulgaris, pemphigus foliaceus and paraneoplastic pemphigus
    L F Mentink
    Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, P O Box 30 001, 9700 RB Groningen, The Netherlands
    Br J Dermatol 156:635-41. 2007
    ..Occasionally direct immunofluorescence of pemphigus skin reveals IgA depositions with an intraepidermal intercellular pattern in addition to the IgG deposition...
  22. ncbi request reprint Linear IgA bullous dermatosis in a patient with renal cell carcinoma
    R I van der Waal
    Department of Dermatology, University Hospital Vrije Universiteit, PO Box 7057, 1007 MB Amsterdam, The Netherlands
    Br J Dermatol 144:870-3. 2001
    ..The association of LABD and malignancies has been documented before and is not due to mere chance alone...
  23. doi request reprint IgG-induced clustering of desmogleins 1 and 3 in skin of patients with pemphigus fits with the desmoglein nonassembly depletion hypothesis
    D A M Oktarina
    Department of Dermatology, Centre for Blistering Diseases, University Medical Centre Groningen, University of Groningen, Hanzeplein 1, 9713 GZ Groningen, The Netherlands
    Br J Dermatol 165:552-62. 2011
    ..In pemphigus circulating IgG is present with the desmosomal cadherins desmoglein (Dsg) 1 and 3. In the epidermis of patients, this IgG deposits in a pattern that is often partly granular and does not reflect the normal Dsg distribution...
  24. ncbi request reprint Inflammatory epidermolysis bullosa acquisita with coexistent IgA antibodies to plectin
    J J A Buijsrogge
    Department of Dermatology, Center for Blistering Diseases, University Medical Center Groningen, University of Groningen, The Netherlands
    Clin Exp Dermatol 30:531-4. 2005
    ..To our knowledge, this case demonstrates for the first time the existence of IgA antibodies against plectin...
  25. ncbi request reprint Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1)
    M F Jonkman
    Department of Dermatology, University Hospital Groningen, The Netherlands
    J Invest Dermatol 112:815-7. 1999
    ..This report adds to the expanding database on COL7A1 mutations in dystrophic epidermolysis bullosa...
  26. ncbi request reprint Two type XVII collagen (BP180) mRNA transcripts in human keratinocytes: a long and a short form
    K Molnar
    Department of Dermatology, University Hospital, Groningen, The Netherlands
    Clin Exp Dermatol 25:71-6. 2000
    ..The biological significance of this newly identified transcript in protein synthesis and tissue expression or in cell differentiation, proliferation or adhesion is as yet unknown...
  27. ncbi request reprint Paraneoplastic pemphigus caused by an epithelioid leiomyosarcoma and associated with fatal respiratory failure
    R I van der Waal
    Department of Dermatology, University Hospital Vrije Universiteit, PO Box 7057, 1007 MB, Amsterdam, The Netherlands
    Oral Oncol 36:390-3. 2000
    ..Early diagnosis of PNP is stressed to possibly prevent fatal pulmonary involvement...
  28. doi request reprint Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart
    M C Bolling
    Department of Dermatology, University Medical Center Groningen, Hanzeplein 1, 9713 GZ Groningen, The Netherlands
    Br J Dermatol 162:1388-94. 2010
    ..Furthermore, they indicate that in addition to the desmoplakin C-terminus, the rod domain is dispensable for intrauterine development but is essential for the inner dense plaque of desmosomes...
  29. ncbi request reprint Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis
    P H Hut
    Department of Medical Genetics, University of Groningen, Groningen, The Netherlands
    J Invest Dermatol 114:616-9. 2000
    ..By obviating the need of KRT14 cDNA synthesis from RNA isolated from skin biopsies, this approach substantially facilitates the detection of KRT14 hotspot mutations...
  30. ncbi request reprint Truncated typeXVII collagen expression in a patient with non-herlitz junctional epidermolysis bullosa caused by a homozygous splice-site mutation
    M R van Leusden
    Centre for Blistering Skin Diseases, Department of Dermatology, Groningen University Hospital, Groningen, The Netherlands
    Lab Invest 81:887-94. 2001
    ..We hypothesize that the function of this truncated type XVII collagen polypeptide, which is expressed at low levels, is impaired, explaining the JEB-nH phenotype...
  31. doi request reprint Adhesive stripping to remove epidermis in junctional epidermolysis bullosa for revertant cell therapy
    A Gostynski
    Department of Dermatology, University Medical Centre Groningen, University of Groningen, 9700 RB Groningen, The Netherlands
    Br J Dermatol 161:444-7. 2009
    ..Revertant cells can be found in patches of normal skin in patients with junctional EB (JEB) due to revertant mosaicism caused by in vivo reversions...
  32. doi request reprint A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis
    M C Bolling
    Department of Dermatology, University Medical Center Groningen, 9713 GZ Groningen, The Netherlands
    Br J Dermatol 162:875-9. 2010
    ..A novel heterozygous missense mutation in the linker L12 domain of KRT1:c.1019A>G, p.Asp340Gly was found associated with this phenotype in these families...
  33. doi request reprint Junctional epidermolysis bullosa of late onset explained by mutations in COL17A1
    W Y Yuen
    Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Br J Dermatol 164:1280-4. 2011
    ..Junctional epidermolysis bullosa of late onset (JEB-lo) is a rare disease characterized by blistering of primarily the hands and feet starting in childhood. The pathogenesis remains unclear...
  34. ncbi request reprint Dexamethasone pulse therapy in pemphigus
    G G Toth
    Center for Bullous Skin Diseases, Department of Dermatology, Groningen University Hospital, The Netherlands
    J Eur Acad Dermatol Venereol 16:607-11. 2002
    ..Fifty per cent of the patients reached complete remission. This retrospective study does not allow claims on the steroid-sparing effect...
  35. ncbi request reprint Bullous eosinophilic cellulitis (Wells' syndrome) associated with Churg-Strauss syndrome
    M L A Schuttelaar
    Centre for Blistering Skin Diseases, Department of Dermatology, Groningen University Hospital, Groningen, The Netherlands
    J Eur Acad Dermatol Venereol 17:91-3. 2003
    ..The association of CSS and Wells' syndrome observed in this patient may have a common pathogenesis. CSS may induce Wells' syndrome by an unknown factor...
  36. doi request reprint Low sensitivity of type VII collagen enzyme-linked immunosorbent assay in epidermolysis bullosa acquisita: serration pattern analysis on skin biopsy is required for diagnosis
    J B Terra
    Centre for Blistering Diseases, Department of Dermatology, University of Groningen, University Medical Centre Groningen, 9700 RB Groningen, The Netherlands
    Br J Dermatol 169:164-7. 2013
    ....
  37. doi request reprint The needs of parents with children suffering from lethal epidermolysis bullosa
    W Y Yuen
    Department of Dermatology, University of Groningen, University Medical Center Groningen, Hanzeplein 1, 9700RB Groningen, The Netherlands
    Br J Dermatol 167:613-8. 2012
    ..Parents of these patients experience some specific problems, such as the unfamiliarity of EB amongst healthcare professionals and the suffering and loss of their child...
  38. doi request reprint Low-dose rituximab is effective in pemphigus
    B Horvath
    Departments of Dermatology Laboratory Medicine, Centre for Blistering Diseases, University Medical Centre Groningen, University of Groningen, PO Box 30001, 9700 RB Groningen, The Netherlands
    Br J Dermatol 166:405-12. 2012
    ..Rituximab, an anti-CD20 antibody, was shown in open series studies to be effective in treating pemphigus at a dose of 4 × 375 mgm(-2) as approved for B-cell malignancies...
  39. doi request reprint Immunofluorescence serration pattern analysis as a diagnostic criterion in antilaminin-332 mucous membrane pemphigoid: immunopathological findings and clinical experience in 10 Dutch patients
    J B Terra
    Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9700 RB Groningen, The Netherlands
    Br J Dermatol 165:815-22. 2011
    ..Antilaminin-332 mucous membrane pemphigoid (anti-LN-332 MMP) is a chronic subepidermal blistering disease characterized by IgG anti-epidermal basement membrane zone (BMZ) autoantibodies against laminin-332 (LN-332)...
  40. ncbi request reprint Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex
    M F Jonkman
    Department of Dermatology, University of Groningen, The Netherlands
    J Invest Dermatol 107:764-9. 1996
    ..The disorder was associated with circumscribed hyperkeratotic lesions with the histology of epidermolytic hyperkeratosis. The prognosis of keratin 14 ablation is much better in the human than in the mouse...
  41. ncbi request reprint Successful dexamethasone pulse therapy in a toxic epidermal necrolysis (TEN) patient featuring recurrent TEN to oxazepam
    J B van der Meer
    Department of Dermatology Centre of Blistering Skin Diseases, Faculty of Medical Sciences, University Hospital Groningen, PO Box 30 001, 9700 RB Groningen, The Netherlands
    Clin Exp Dermatol 26:654-6. 2001
    ..Re-epithelialization began within 24 h of the start of the second series of dexamethasone pulse therapy, and continued to almost complete recovery within 1 week...
  42. doi request reprint Systemic therapy with immunosuppressive agents and retinoids in hidradenitis suppurativa: a systematic review
    J L Blok
    Department of Dermatology, University of Groningen, University Medical Center Groningen, Hanzeplein 1, 9700 RB Groningen, The Netherlands
    Br J Dermatol 168:243-52. 2013
    ..The therapeutic effect of isotretinoin is questionable. Randomized controlled trials are needed to confirm the effectiveness of acitretin, and to identify the most effective immunosuppressive agents in HS...
  43. doi request reprint The n- vs. u-serration is a learnable criterion to differentiate pemphigoid from epidermolysis bullosa acquisita in direct immunofluorescence serration pattern analysis
    J B Terra
    Center for Skin Blistering Diseases, Department of Dermatology, University of Groningen, University Medical Center Groningen, Hanzeplein, 9700 RB Groningen, The Netherlands
    Br J Dermatol 169:100-5. 2013
    ..Serration pattern analysis of direct immunofluorescence (DIF) allows the differentiation of epidermolysis bullosa acquisita from other subtypes of pemphigoid. In daily practice its use is limited due to lack of experience and unfamiliarity...
  44. doi request reprint Long-term follow-up of patients with Herlitz-type junctional epidermolysis bullosa
    W Y Yuen
    Department of Dermatology, Center for Blistering Diseases, University of Groningen, University Medical Center Groningen, Hanzeplein 1, 9700 RB Groningen, The Netherlands
    Br J Dermatol 167:374-82. 2012
    ..It is characterized by extensive and devastating blistering of the skin and mucous membranes, leading to death in early childhood...
  45. ncbi request reprint Normal expression of the 19-DEJ-1 epitope in two siblings with late-onset junctional epidermolysis bullosa
    A Stouthamer
    Department of Dermatology, University Hospital Vrije Universiteit, PO Box 7057, 1007 MB Amsterdam, The Netherlands
    Br J Dermatol 144:1054-7. 2001
    ..In this family, all known involved hemidesmosomal components, including uncein, recognized by the monoclonal antibody 19-DEJ-1, appeared to be normally expressed...
  46. ncbi request reprint Acquired palmoplantar keratoderma and immunobullous disease associated with antibodies to desmocollin 3
    M C Bolling
    Centre for Blistering Diseases, Department of Dermatology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
    Br J Dermatol 157:168-73. 2007
    ..In our patient with acquired PPK, we hypothesize that the antibodies to desmocollin 3 were, apart from their role in eliciting the pemphigus-like blistering disease, also implicated in the pathogenesis of the PPK...
  47. ncbi request reprint Follicular non-Hodgkin's lymphoma with refractory paraneoplastic pemphigus: case report with review of novel treatment modalities
    M M Van Rossum
    Department of Dermatology, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Leuk Lymphoma 45:2327-32. 2004
    ....
  48. doi request reprint Postoperative hand treatment in children with recessive dystrophic epidermolysis bullosa
    S A Formsma
    Center for Rehabilitation, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    J Hand Ther 21:80-4; quiz 85. 2008
    ..Both splinting programs include exercises. This postoperative treatment program for EB starts with dynamic splinting, followed by static splinting in combination with exercises...
  49. doi request reprint Filaggrin mutations in the onset of eczema, sensitization, asthma, hay fever and the interaction with cat exposure
    M L A Schuttelaar
    Departments of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Allergy 64:1758-65. 2009
    ..Filaggrin gene (FLG) mutations contribute to the development of eczema and asthma, but their contribution to sensitization and hay fever remains unclear...
  50. ncbi request reprint Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex
    Petra H L Schuilenga-Hut
    Department of Medical Genetics, University of Groningen, Groningen, The Netherlands
    J Invest Dermatol 118:626-30. 2002
    ..We hypothesize that a second somatic modulating factor in the genome that affects the processing of the mutant KRT14 pre-mRNA may underlie this phenomenon...
  51. ncbi request reprint Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations
    Petra H L Schuilenga-Hut
    Department of Medical Genetics, University of Groningen, Groningen, The Netherlands
    Hum Mutat 21:447. 2003
    ....
  52. pmc Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3
    Anna M G Pasmooij
    Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, Hanzeplein 1, NL 9700 RB Groningen, The Netherlands
    J Clin Invest 117:1240-8. 2007
    ..This opens the possibility of applying revertant cell therapy in mosaic EB of the LAMB3 gene by using autologous naturally corrected keratinocytes, thereby bypassing the recombinant gene correction phase...
  53. ncbi request reprint Basement membrane reconstruction in human skin equivalents is regulated by fibroblasts and/or exogenously activated keratinocytes
    Abdoelwaheb El Ghalbzouri
    Department of Dermatology, Leiden University Medical Center, Leiden, The Netherlands
    J Invest Dermatol 124:79-86. 2005
    ....
  54. pmc Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa
    Marcel F Jonkman
    Department of Dermatology, University Medical Centre Groningen, The Netherlands
    Am J Hum Genet 77:653-60. 2005
    ..The new dramatic phenotype, which we named "lethal acantholytic epidermolysis bullosa," underscores the paramount role of DP in epidermal integrity...
  55. ncbi request reprint Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X)
    Renée C Niessen
    Department of Clinical Genetics, University Medical Center Groningen, Groningen, The Netherlands
    Am J Med Genet A 137:313-22. 2005
    ..The 47,XX,+7 cell line showed a paternal and a maternal X-chromosome, and a paternal and two identical maternal chromosomes 7. Mechanisms that might explain this double aneuploidy mosaicism are discussed...
  56. doi request reprint Main problems experienced by children with epidermolysis bullosa: a qualitative study with semi-structured interviews
    Corinne van Scheppingen
    Center for Blistering Diseases, Department of Dermatology, University of Groningen, Goningen, The Netherlands
    Acta Derm Venereol 88:143-50. 2008
    ..Both groups had difficulties with participation, the visibility of their disease and the feeling of being different...
  57. pmc Is disturbed clearance of apoptotic keratinocytes responsible for UVB-induced inflammatory skin lesions in systemic lupus erythematosus?
    Esther Reefman
    Department of Rheumatology and Clinical Immunology, University Medical Center Groningen, University of Groningen, PO Box 30, 001, 9700 RB Groningen, The Netherlands
    Arthritis Res Ther 8:R156. 2006
    ....
  58. ncbi request reprint Immunoadsorption against two distinct epitopes on human type XVII collagen abolishes dermal-epidermal separation induced in vitro by autoantibodies from pemphigoid gestationis patients
    Josep E Herrero-Gonzalez
    Department of Dermatology, University of Lubeck, Lubeck, Germany
    Eur J Immunol 36:1039-48. 2006
    ..This study identifies the epitopes relevant for blister induction in PG and should facilitate the development of an antigen-specific immunoadsorption therapy for this disease...
  59. ncbi request reprint Anti-epiligrin cicatricial pemphigoid and epidermolysis bullosa acquisita: differentiation by use of indirect immunofluorescence microscopy
    Robert M Vodegel
    Department of Dermatology, Groningen University Hospital, The Netherlands
    J Am Acad Dermatol 48:542-7. 2003
    ....
  60. doi request reprint The main problems of parents of a child with epidermolysis bullosa
    Corinne van Scheppingen
    Center for Blistering Diseases, Department of Dermatology, University of Groningen, Groningen, The Netherlands
    Qual Health Res 18:545-56. 2008
    ..Despite the great variance in clinical pictures of the different (sub)types of EB, the main problems parents experienced appear quite similar. However, the problems did appear to differ in extensiveness, intensity, and gravity...
  61. ncbi request reprint Clouston syndrome can mimic pachyonychia congenita
    Maurice A M van Steensel
    Department of Dermatology, University Medical Center Nijmegen, Nijmegen, The Netherlands
    J Invest Dermatol 121:1035-8. 2003
    ..This unexpected finding expands the Clouston syndrome phenotype and suggests that some patients diagnosed with pachyonychia may in fact be suffering from Clouston syndrome...
  62. doi request reprint The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB
    Jo David Fine
    Vanderbilt University School of Medicine, Nashville, Tennessee National Epidermolysis Bullosa Registry, Nashville, Tennessee, USA
    J Am Acad Dermatol 58:931-50. 2008
    ..At the same time, new epidermolysis bullosa (EB) subtypes have been described and similarities with some other diseases have been identified...
  63. pmc Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa
    Anna M G Pasmooij
    Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Am J Hum Genet 77:727-40. 2005
    ..This latter observation makes it likely that reversion may be overlooked and may happen more often than expected...
  64. pmc Deficiency of ATP2C1, a Golgi ion pump, induces secretory pathway defects in endoplasmic reticulum (ER)-associated degradation and sensitivity to ER stress
    Jose Ramos-Castaneda
    Division of Metabolism, Endocrinology, and Diabetes, University of Michigan Medical School, Ann Arbor Michigan 48109, USA
    J Biol Chem 280:9467-73. 2005
    ..However, deficiency of ATP2C1 renders cells hypersensitive to ER stress. These data point to the important contributions of the Golgi-localized ATP2C1 protein in homeostatic maintenance throughout the secretory pathway...
  65. ncbi request reprint Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects
    Dedee F Murrell
    J Invest Dermatol 127:1772-5. 2007