Research Topics
Genomes and GenesSpecies | Marcel F JonkmanSummaryAffiliation: University Medical Center Groningen Country: The Netherlands Publications
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Publications
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosaMarcel 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...
Revertant mosaicism due to a second-site mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosaAnna M G Pasmooij
Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
J Invest Dermatol 130:2407-11. 2010..Furthermore, the revertant keratinocytes might offer the possibility to explore cell-based therapeutic strategies, by culturing in vitro and subsequently grafting as part of bioengineered dermo-epidermal substitutes on affected skin...- Natural gene therapy in dystrophic epidermolysis bullosaPeter C van den Akker
Department of Dermatology, University Medical Center Groningen, University of Groningen, The Netherlands
Arch Dermatol 148:213-6. 2012..This "natural gene therapy" phenomenon long has been recognized in other forms of epidermolysis bullosa but only recently in dystrophic epidermolysis bullosa... - Natural gene therapy may occur in all patients with generalized non-Herlitz junctional epidermolysis bullosa with COL17A1 mutationsAnna M G Pasmooij
Department of Dermatology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
J Invest Dermatol 132:1374-83. 2012..The fact that so many, if not all, generalized JEB-nH COL17A1 patients have revertant patches offers opportunities for cell therapies in which the patient's own naturally corrected cells are used as a source... - Enhanced diagnostic immunofluorescence using biopsies transported in salineRobert 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... 
Revertant mosaicism in heritable skin diseases: mechanisms of natural gene therapyAnna M G Pasmooij
Department of Dermatology, University Medical Center, University of Groningen, Groningen, The Netherlands
Discov Med 14:167-79. 2012..The revertant skin could potentially be used to treat the patient's own affected skin...- Skin and heart: une liaison dangereuseMaria C Bolling
Department of Dermatology, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands
Exp Dermatol 18:658-68. 2009..Knowledge of these skin features and early recognition of such a syndrome may provide opportunities to halt or slow down cardiac disease progression, treat arrhythmias and even prevent sudden death... - Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosaAnna 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... - Two major 5'-untranslated regions for type XVII collagen mRNASebastiaan van Zalen
Department of Dermatology, Center for Blistering Diseases, University Medical Center Groningen, University of Groningen, Hanzeplein 1, NL 9713 GZ Groningen, The Netherlands
J Dermatol Sci 43:11-9. 2006..Since UTRs can modulate translation efficiency, the determination of the UTR sequence is indispensable for understanding the regulation of translation of type XVII collagen mRNA... - The IgG "lupus-band" deposition pattern of pemphigus erythematosus: association with the desmoglein 1 ectodomain as revealed by 3 casesDyah A M Oktarina
Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
Arch Dermatol 148:1173-8. 2012..This combined pattern has been connected with a variant of pemphigus foliaceus named pemphigus erythematosus... - Realm of revertant mosaicism expandingMarcel F Jonkman
Department of Dermatology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
J Invest Dermatol 132:514-6. 2012..This finding further pushes the frontier of revertant mosaicism, a phenomenon of spontaneous gene repair, which can be seen with the naked eye in skin... - Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3Anna 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... - The main problems of parents of a child with epidermolysis bullosaCorinne 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... - A new pathogenic keratin 5 mutation in a Hindoestan family with localized epidermolysis bullosa simplexSophie C Flohil
Department of Dermatology, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands
Eur J Dermatol 20:27-9. 2010..We also found a new heterozygous amino acid substitution polymorphism in the variable keratin 14 N-terminal head domain (KRT14:c.88C>T, p.Arg30Cys), that did not segregate with the phenotype... - Dexamethasone pulse therapy for Stevens-Johnson syndrome/toxic epidermal necrolysisSylvia H Kardaun
Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
Acta Derm Venereol 87:144-8. 2007..A larger controlled trial is warranted to investigate further the use of dexamethasone pulse therapy in SJS/TEN... - 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.... - Skin problems in lower limb amputees: a systematic reviewHenk E J Meulenbelt
Center for Rehabilitation, Northern Center for Health Care Research, University Medical Center Groningen, Groningen, The Netherlands
Disabil Rehabil 28:603-8. 2006..This impediment may have great impact in daily life. Our objective was to review literature systematically concerning incidence and prevalence of skin disorders of the stump in lower limb amputees... - [Diagnostic image. A pregnant female with blisters]Jorrit B Terra
Universitair Medisch Centrum Groningen, afd Dermatologie, Groningen, The Netherlands
Ned Tijdschr Geneeskd 153:B36. 2009..A 37-year-old woman, 28 weeks pregnant, presented with severe pruritic blisters due to pemphigoid gestationis... - 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... - The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagenPeter C van den Akker
Department of Genetics, University Medical Center Groningen, Hanzeplein 1, PO Box 30 001, 9700 RB Groningen, The Netherlands
J Med Genet 48:160-7. 2011..So far, 20 COL7A1 genotypes have been described in RDEB-I and genotype-phenotype correlations have not been studied extensively. The aim of the study was to gain more insight into the pathophysiology of this intriguing RDEB-I phenotype... - Skin problems of the stump in lower-limb amputees: 2. Influence on functioning in daily lifeHenk E J Meulenbelt
Department of Rehabilitation Medicine, University Medical Center Groningen, University of Groningen, Hanzeplein 1, PO Box 30 001, 9700 RB Groningen, The Netherlands
Acta Derm Venereol 91:178-82. 2011..483; p = 0.01). In linear regression analyses, gender (β = -0.15) and number of skin problems (β = 0.25) accounted for 23% of the total score. This study confirms the influence of skin problems on functioning in daily life... - Skin problems of the stump in lower limb amputees: 1. A clinical studyHenk E J Meulenbelt
Department of Rehabilitation Medicine, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
Acta Derm Venereol 91:173-7. 2011..Significantly more skin problems were reported than observed (p = 0.011). Cold skin and excessive perspiration in particular were significantly more reported than observed... - Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlationsPeter C van den Akker
Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
J Dermatol Sci 56:9-18. 2009.... - Design and validation of a conformation-sensitive capillary electrophoresis system for mutation identification of the COL7A1 gene with automated peak comparisonPeter C van den Akker
Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
Genet Test Mol Biomarkers 13:589-97. 2009..2-100% (95% confidence interval). We conclude that this CSCE system is a rapid, reliable, cost-effective, and highly sensitive way of mutation scanning for COL7A1 in a molecular genetics service laboratory... - Determinants of skin problems of the stump in lower-limb amputeesHenk E Meulenbelt
Center for Rehabilitation, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
Arch Phys Med Rehabil 90:74-81. 2009..To identify determinants of skin problems in lower-limb amputees... - Punch grafting of chronic ulcers in patients with laminin-332-deficient, non-Herlitz junctional epidermolysis bullosaWing Yan Yuen
Department of Dermatology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
J Am Acad Dermatol 68:93-7, 97.e1-2. 2013..Patients with laminin-332-deficient non-Herlitz junctional EB (JEB-nH) can have impaired wound healing witnessed by persistent, small, deep ulcers on the hands and feet that adversely affect the quality of life... - Staphylococcal scalded skin syndrome: loss of desmoglein 1 in patient skinA Susanne Aalfs
Centre for Blistering Diseases, Department of Dermatology, University Medical Centre Groningen, University of Groningen, P O Box 30 001, 9700 RB Groningen, The Netherlands
Eur J Dermatol 20:451-6. 2010..This raises the question if other toxins and/or other bacteria than Staphylococcus aureus might also induce SSSS... - Basement membrane reconstruction in human skin equivalents is regulated by fibroblasts and/or exogenously activated keratinocytesAbdoelwaheb El Ghalbzouri
Department of Dermatology, Leiden University Medical Center, Leiden, The Netherlands
J Invest Dermatol 124:79-86. 2005.... - Anti-epiligrin cicatricial pemphigoid and epidermolysis bullosa acquisita: differentiation by use of indirect immunofluorescence microscopyRobert M Vodegel
Department of Dermatology, Groningen University Hospital, The Netherlands
J Am Acad Dermatol 48:542-7. 2003.... - Epidermolysis bullosa in the NetherlandsJosé C Duipmans
Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
Dermatol Clin 28:411-3, xv. 2010..This article includes a list of resources for patients with epidermolysis bullosa in the Netherlands... - Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplexMarcel F Jonkman
Center for Blistering Skin Diseases, Department of Dermatology, Groningen University Hospital, Groningen, The Netherlands
J Invest Dermatol 119:1275-81. 2002.... - Interdisciplinary management of epidermolysis bullosa in the public setting: the Netherlands as a model of careJosé C Duipmans
Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
Dermatol Clin 28:383-6, xiii. 2010..The possibility of rapid diagnosis, the efficient carrousel-like clinics, and the continuity in care are typical elements of the Dutch method of delivering interdisciplinary EB care... - Abundance of the long pentraxin PTX3 at sites of leukocytoclastic lesions in patients with small-vessel vasculitisAndre P van Rossum
University Medical Centre Groningen, Groningen, The Netherlands
Arthritis Rheum 54:986-91. 2006..Since PTX3 inhibits phagocytosis of late apoptotic PMNs by macrophages and is strongly up-regulated at sites of leukocytoclastic infiltration, PTX3 is a candidate factor in the phenomenon of leukocytoclasia in small-vessel vasculitis... - Analysis of cutaneous somatic mosaicismAnna M G Pasmooij
Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
Methods Mol Biol 961:165-77. 2013..Here, we describe the preparation of skin sections and cells for LDM, followed by dissection, and subsequent DNA and RNA analysis in order to detect the underlying somatic mutation... - Experimental human cell and tissue models of pemphigusGerda van der Wier
Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, Hanzeplein 1, P O Box 30001, 9700 RB Groningen, The Netherlands
Dermatol Res Pract 2010:143871. 2010..Reconstituted skin is a relatively new model that approaches organ culture. In models of human skin grafted on mice, acantholysis can be studied in actual human skin but now with all the advantages of an animal model... - Clouston syndrome can mimic pachyonychia congenitaMaurice 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... - Main problems experienced by children with epidermolysis bullosa: a qualitative study with semi-structured interviewsCorinne 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... - Risk of squamous cell carcinoma in junctional epidermolysis bullosa, non-Herlitz type: report of 7 cases and a review of the literatureWing Yan Yuen
Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
J Am Acad Dermatol 65:780-9. 2011..The risk of developing SCC among patients with junctional epidermolysis bullosa (JEB) is unclear from the literature; however, in our center we noticed an unexpected number of SCCs among adult patients with JEB... - The histopathological spectrum of acute generalized exanthematous pustulosis (AGEP) and its differentiation from generalized pustular psoriasisSylvia H Kardaun
Department of Dermatology, Reference Center for Cutaneous Adverse Drug Reactions, University Medical Center Groningen, University of Groningen, Hanzeplein 1, Groningen, The Netherlands
J Cutan Pathol 37:1220-9. 2010..We present a systematic description of the histopathological spectrum of AGEP and GPP with a focus on discriminating features... - Randomized controlled trial of adjuvant oral dexamethasone pulse therapy in pemphigus vulgaris: PEMPULS trialLeon F Mentink
Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
Arch Dermatol 142:570-6. 2006..CONCLUSION: In patients with new pemphigus vulgaris disease activity, there was no benefit of oral DP therapy given in addition to conventional treatment. TRIAL REGISTRATION: clinicaltrials.gov Identifier: NCT00127764... - Dysfunction of keratinocyte adhesionMarcel F Jonkman
Department of Dermatology, University Hospital Groningen, Hanzeplein 1, 9700 RB Groningen, The Netherlands
Exp Dermatol 13:654-5. 2004 - Trichostasis spinulosa: itchy follicular papules in young adultsMichiel A Strobos
Department of Dermatology, Groningen University Hospital, Groningen, The Netherlands
Int J Dermatol 41:643-6. 2002..Here we present the microscopic study of the pruritic variant of trichostasis spinulosa in two patients and provide a review of the literature... - IgA-mediated epidermolysis bullosa acquisita: two cases and review of the literatureRobert M Vodegel
Center for Blistering Skin Diseases, Department of Dermatology, Groningen University Hospital, The Netherlands
J Am Acad Dermatol 47:919-25. 2002..Only a minority of the patients with IgA-EBA showed milia or scarring or had therapy-resistant ocular symptoms as in the mechanobullous type of IgG-EBA. Most patients with IgA-EBA responded to dapsone therapy... - Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutationsPetra H L Schuilenga-Hut
Department of Medical Genetics, University of Groningen, Groningen, The Netherlands
Hum Mutat 21:447. 2003.... - The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EBJo 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... - Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defectsDedee F Murrell
J Invest Dermatol 127:1772-5. 2007 - Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplexPetra 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... - Transition of pemphigus vulgaris into pemphigus foliaceus confirmed by antidesmoglein ELISA profileGábor G Tóth
Int J Dermatol 41:525-7. 2002 - Dexamethasone pharmacokinetics after high-dose oral therapy for pemphigusGábor G Tóth
Ann Pharmacother 36:1108-9. 2002 - Deficiency of ATP2C1, a Golgi ion pump, induces secretory pathway defects in endoplasmic reticulum (ER)-associated degradation and sensitivity to ER stressJose 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...