Leena Bruckner-Tuderman

Summary

Affiliation: University Hospital
Country: Germany

Publications

  1. ncbi request reprint [The situation of rare skin diseases in Germany]
    L Bruckner-Tuderman
    Universitäts Hautklinik Freiburg, BRD
    Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 50:1541-7. 2007
  2. doi request reprint Dystrophic epidermolysis bullosa: pathogenesis and clinical features
    Leena Bruckner-Tuderman
    Department of Dermatology, University Medical Center Freiburg, Hauptstrasse 7, 79104 Freiburg, Germany
    Dermatol Clin 28:107-14. 2010
  3. doi request reprint The genetics of skin fragility
    Cristina Has
    Department of Dermatology, Medical Center University of Freiburg, Freiburg 79104, Germany email
    Annu Rev Genomics Hum Genet 15:245-68. 2014
  4. doi request reprint Disorders of the cutaneous basement membrane zone--the paradigm of epidermolysis bullosa
    Leena Bruckner-Tuderman
    Department of Dermatology, University Medical Center Freiburg, Germany Freiburg Institute for Advanced Studies, School of Life Sciences LIFENET, Freiburg, Germany Electronic address
    Matrix Biol 33:29-34. 2014
  5. doi request reprint [New developments in hereditary blistering skin diseases]
    L Bruckner-Tuderman
    Universitäts Hautklinik Freiburg, Hauptstr 7, 79104, Freiburg, Deutschland
    Hautarzt 64:7-11. 2013
  6. doi request reprint Epidermolysis bullosa care in Germany
    Leena Bruckner-Tuderman
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany
    Dermatol Clin 28:405-6, xiv. 2010
  7. doi request reprint RhoA activation by CNFy restores cell-cell adhesion in kindlin-2-deficient keratinocytes
    Yinghong He
    Department of Dermatology, Medical Centre University of Freiburg, Germany
    J Pathol 233:269-80. 2014
  8. pmc Kindlin-1 and -2 have overlapping functions in epithelial cells implications for phenotype modification
    Yinghong He
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Freiburg, Germany
    Am J Pathol 178:975-82. 2011
  9. pmc Dynamic interactions of epidermal collagen XVII with the extracellular matrix: laminin 332 as a major binding partner
    Wataru Nishie
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany
    Am J Pathol 179:829-37. 2011
  10. pmc Global remodelling of cellular microenvironment due to loss of collagen VII
    Victoria Kuttner
    School of Life Science LIFENET, Freiburg Institute for Advanced Studies FRIAS, University of Freiburg, Freiburg, Germany
    Mol Syst Biol 9:657. 2013

Detail Information

Publications104 found, 100 shown here

  1. ncbi request reprint [The situation of rare skin diseases in Germany]
    L Bruckner-Tuderman
    Universitäts Hautklinik Freiburg, BRD
    Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 50:1541-7. 2007
    ..In our view, a similar approach is also necessary in Germany...
  2. doi request reprint Dystrophic epidermolysis bullosa: pathogenesis and clinical features
    Leena Bruckner-Tuderman
    Department of Dermatology, University Medical Center Freiburg, Hauptstrasse 7, 79104 Freiburg, Germany
    Dermatol Clin 28:107-14. 2010
    ..Potential therapies are in development. This article describes the pathogenesis and clinical features of DEB. It also describes therapeutic options and the future of molecular therapies...
  3. doi request reprint The genetics of skin fragility
    Cristina Has
    Department of Dermatology, Medical Center University of Freiburg, Freiburg 79104, Germany email
    Annu Rev Genomics Hum Genet 15:245-68. 2014
    ..Current translational research concentrates on the development of biologically valid treatments with therapeutic genes, cells, proteins, or small-molecule compounds in preclinical settings or human pilot trials. ..
  4. doi request reprint Disorders of the cutaneous basement membrane zone--the paradigm of epidermolysis bullosa
    Leena Bruckner-Tuderman
    Department of Dermatology, University Medical Center Freiburg, Germany Freiburg Institute for Advanced Studies, School of Life Sciences LIFENET, Freiburg, Germany Electronic address
    Matrix Biol 33:29-34. 2014
    ..The rapid progress in understanding the molecular basis of EB has enabled the development of strategies for biologically valid causal therapies. ..
  5. doi request reprint [New developments in hereditary blistering skin diseases]
    L Bruckner-Tuderman
    Universitäts Hautklinik Freiburg, Hauptstr 7, 79104, Freiburg, Deutschland
    Hautarzt 64:7-11. 2013
    ....
  6. doi request reprint Epidermolysis bullosa care in Germany
    Leena Bruckner-Tuderman
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany
    Dermatol Clin 28:405-6, xiv. 2010
    ..Intensive collaborations with other networks for rare genetic diseases will generate durable structures in Germany and form a basis for future international consortia...
  7. doi request reprint RhoA activation by CNFy restores cell-cell adhesion in kindlin-2-deficient keratinocytes
    Yinghong He
    Department of Dermatology, Medical Centre University of Freiburg, Germany
    J Pathol 233:269-80. 2014
    ..Our results suggest that pharmacological regulation of RhoGTPase activity may represent a therapeutic option for skin fragility...
  8. pmc Kindlin-1 and -2 have overlapping functions in epithelial cells implications for phenotype modification
    Yinghong He
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Freiburg, Germany
    Am J Pathol 178:975-82. 2011
    ..This first example of environmental regulation of kindlin expression has implications for phenotype modulation in Kindler syndrome, a skin disorder caused by kindlin-1 deficiency...
  9. pmc Dynamic interactions of epidermal collagen XVII with the extracellular matrix: laminin 332 as a major binding partner
    Wataru Nishie
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany
    Am J Pathol 179:829-37. 2011
    ..Taken together, migrating keratinocytes shed the Ecto-ColXVII, and this dynamically binds via its C-terminal domain to distinct partners in the ECM...
  10. pmc Global remodelling of cellular microenvironment due to loss of collagen VII
    Victoria Kuttner
    School of Life Science LIFENET, Freiburg Institute for Advanced Studies FRIAS, University of Freiburg, Freiburg, Germany
    Mol Syst Biol 9:657. 2013
    ..The definition of the proteome of fibroblast microenvironment and its plasticity in health and disease identified novel disease mechanisms and potential targets of intervention...
  11. doi request reprint Induction of phenotype modifying cytokines by FERMT1 mutations
    Anja Heinemann
    Department of Dermatology, University of Freiburg, Freiburg, Germany
    Hum Mutat 32:397-406. 2011
    ..These data are concordant with a model wherein repeated cycles of epidermal cell stress, cytokine secretion, dermal inflammation, and profibrotic processes underlie mucocutaneous fibrosis in KS...
  12. pmc Kindlin-1 Is required for RhoGTPase-mediated lamellipodia formation in keratinocytes
    Cristina Has
    Department of Dermatology, University Medical Center Freiburg, Freiburg 79104, Germany
    Am J Pathol 175:1442-52. 2009
    ..Loss of these kindlin-1 functions forms the biological basis for the epithelial cell fragility and atrophy in the pathology of KS...
  13. pmc Collagen VII plays a dual role in wound healing
    Alexander Nyström
    Department of Dermatology, University Medical Center, Freiburg, Germany
    J Clin Invest 123:3498-509. 2013
    ....
  14. doi request reprint Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa
    Dimitra Kiritsi
    Department of Dermatology, University Medical Center Freiburg, Hauptstr 7, 79104 Freiburg, Germany
    J Med Genet 48:450-7. 2011
    ..The objective of this study is comprehensive genotype-phenotype analysis in JEB-other patients with COL17A1 mutations and elucidation of disease mechanisms underlying different skin phenotypes...
  15. ncbi request reprint Shedding of collagen XVII/BP180: structural motifs influence cleavage from cell surface
    Claus Werner Franzke
    Department of Dermatology, University of Freiburg, Hauptstrasse 7, 79106 Freiburg, Germany
    J Biol Chem 279:24521-9. 2004
    ..The data indicate that the conformation of the NC16A domain and steric availability of the cleavage site influence shedding and is important for folding of collagen XVII...
  16. pmc Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination
    Dimitra Kiritsi
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany
    J Clin Invest 122:1742-6. 2012
    ..Since loss of kindlin-1 severely impairs keratinocyte proliferation, we predict that revertant cells have a selective advantage that allows their clonal expansion and, consequently, the improvement of the skin condition...
  17. ncbi request reprint C-terminal truncation impairs glycosylation of transmembrane collagen XVII and leads to intracellular accumulation
    Claus Werner Franzke
    Department of Dermatology, University Medical Center Freiburg, 79104 Freiburg, Germany
    J Biol Chem 281:30260-8. 2006
    ....
  18. ncbi request reprint Proteinases of the bone morphogenetic protein-1 family convert procollagen VII to mature anchoring fibril collagen
    Anke Rattenholl
    Department of Dermatology, University of Munster, 48149 Munster, Germany
    J Biol Chem 277:26372-8. 2002
    ....
  19. pmc Transmembrane collagen XVII, an epithelial adhesion protein, is shed from the cell surface by ADAMs
    Claus Werner Franzke
    Department of Dermatology, University of Munster, D 48149 Munster, Germany
    EMBO J 21:5026-35. 2002
    ..Functionally, release of the ectodomain of collagen XVII from the cell surface was associated with altered keratinocyte motility in vitro...
  20. doi request reprint Role of kindlin-2 in fibroblast functions: implications for wound healing
    Yinghong He
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany
    J Invest Dermatol 131:245-56. 2011
    ..Taken together, the data reveal a physiological role for kindlin-2 in skin fibroblasts under normal steady-state conditions and during tissue regeneration...
  21. pmc Laminin 332 in junctional epidermolysis bullosa
    Dimitra Kiritsi
    Department of Dermatology, University Freiburg Medical Center, Freiburg, Germany
    Cell Adh Migr 7:135-41. 2013
    ..This article delineates the signs and symptoms of the different forms of JEB, the mutational spectrum, genotype-phenotype correlations as well as perspectives for future molecular therapies...
  22. pmc Coiled coils ensure the physiological ectodomain shedding of collagen XVII
    Wataru Nishie
    Department of Dermatology, Freiburg University Medical Center, University of Freiburg, 79104 Freiburg, Germany
    J Biol Chem 287:29940-8. 2012
    ..This study shows that apart from their functions in protein oligomerization, coiled coils can also act as regulators of ectodomain shedding depending on the biological context...
  23. doi request reprint Kindler syndrome: extension of FERMT1 mutational spectrum and natural history
    Cristina Has
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany
    Hum Mutat 32:1204-12. 2011
    ..Environmental factors and yet unidentified modifiers may play a role. Better understanding of the molecular pathogenesis of KS should enable the development of prevention strategies for disease complications...
  24. pmc Consistency of the proteome in primary human keratinocytes with respect to gender, age, and skin localization
    Adrian Sprenger
    Freiburg Institute for Advanced Studies, School of Life Science LIFENET, University of Freiburg, Albertstr 19, 79104 Freiburg, Germany
    Mol Cell Proteomics 12:2509-21. 2013
    ..We guide through our workflow, point out its advantages compared with other methods and apply it to visualize differences of cell lines compared with primary human keratinocytes. ..
  25. doi request reprint TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome
    Manuela Pigors
    Department of Dermatology, University Freiburg Medical Center, Freiburg, Germany
    J Invest Dermatol 132:2422-9. 2012
    ..Our results give insights into the consequences of TGM5 mutations on terminal epidermal differentiation...
  26. doi request reprint Cell- and protein-based therapy approaches for epidermolysis bullosa
    Alexander Nyström
    Department of Dermatology, University Freiburg Medical Center, Freiburg, Germany
    Methods Mol Biol 961:425-40. 2013
    ..These protocols are directed towards management of DEB but they can be easily adapted for the treatment of other skin fragility disorders...
  27. pmc Rat model for dominant dystrophic epidermolysis bullosa: glycine substitution reduces collagen VII stability and shows gene-dosage effect
    Alexander Nyström
    Department of Dermatology, University Freiburg Medical Center, Freiburg, Germany
    PLoS ONE 8:e64243. 2013
    ....
  28. pmc A hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapy
    Anja Fritsch
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany
    J Clin Invest 118:1669-79. 2008
    ..These data demonstrate that fibroblast-based treatment can be used to treat DEB in a mouse model and suggest that this approach may be effective in the development of clinical therapeutic regimens for patients with DEB...
  29. ncbi request reprint The autoantigen in anti-p200 pemphigoid is synthesized by keratinocytes and fibroblasts and is distinct from nidogen-2
    Silke C Hofmann
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany
    J Invest Dermatol 128:87-95. 2008
    ....
  30. pmc Prevalence of collagen VII-specific autoantibodies in patients with autoimmune and inflammatory diseases
    Emilia Licarete
    Department of Dermatology, University of Freiburg, Hauptstr, 7, Freiburg 79104, Germany
    BMC Immunol 13:16. 2012
    ..The aim of our present study was to develop an accurate immunoassay for assessing the presence of autoantibodies against collagen VII in large cohorts of patients and healthy donors...
  31. doi request reprint Ectodomain shedding generates Neoepitopes on collagen XVII, the major autoantigen for bullous pemphigoid
    Wataru Nishie
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany
    J Immunol 185:4938-47. 2010
    ..Taken together, these data demonstrate that physiological shedding of collagen XVII generates neoepitopes, which may serve as a target of blister-inducing autoantibodies...
  32. ncbi request reprint Kindlin-1 is a phosphoprotein involved in regulation of polarity, proliferation, and motility of epidermal keratinocytes
    Corinna Herz
    Department of Dermatology, University Medical Center Freiburg, Hauptstrasse 7, 79104 Freiburg, Germany
    J Biol Chem 281:36082-90. 2006
    ..It is involved in organization and anchorage of the actin cytoskeleton to integrin-associated signaling platforms...
  33. pmc A novel marker of tissue junctions, collagen XXII
    Manuel Koch
    Department of Dermatology, University of Freiburg, 79104 Freiburg, Germany
    J Biol Chem 279:22514-21. 2004
    ..This novel gene product, collagen XXII, is the first specific extracellular matrix protein present only at tissue junctions...
  34. ncbi request reprint Extracellular phosphorylation of collagen XVII by ecto-casein kinase 2 inhibits ectodomain shedding
    Elena P Zimina
    Department of Dermatology, Faculty of Biology, University of Freiburg, Hauptstrasse 7, 79104 Freiburg, Germany
    J Biol Chem 282:22737-46. 2007
    ..Thus, extracellular phosphorylation of collagen XVII by ecto-CK2 inhibits its shedding by TACE and represents novel mechanism to regulate adhesion and motility of epithelial cells...
  35. ncbi request reprint Network epidermolysis bullosa: molecular pathomechanisms and novel therapeutic approaches
    Andreas Volz
    Department of Dermatology, University Medical Center Freiburg, Germany
    J Dtsch Dermatol Ges 5:274-9. 2007
    ..These results will provide a foundation for developing novel therapeutic approaches for the causal treatment of EB...
  36. pmc The flavonoid luteolin inhibits Fcγ-dependent respiratory burst in granulocytes, but not skin blistering in a new model of pemphigoid in adult mice
    Eva Oswald
    Allergy Research Group, Department of Dermatology, University Freiburg Medical Center, Freiburg, Germany
    PLoS ONE 7:e31066. 2012
    ..These studies establish a robust animal model that will be a useful tool for dissecting the mechanisms of blister formation and will facilitate the development of more effective therapeutic strategies for managing pemphigoid diseases...
  37. doi request reprint Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity
    Manuela Pigors
    Department of Dermatology, University Medical Center Freiburg, Hauptstr 7, Freiburg 79104, Germany
    Hum Mol Genet 20:1811-9. 2011
    ..Adherens junction proteins were localized to keratinocyte plasma membrane, but did not provide proper cell-cell adhesion. This lethal congenital epidermolysis bullosa highlights the fundamental role of plakoglobin in epidermal cohesion...
  38. doi request reprint Global proteome analyses of SILAC-labeled skin cells
    Adrian Sprenger
    Freiburg Institute for Advanced Studies, School of Life Sciences, Center for Biological Systems Analysis, University of Freiburg, Freiburg, Germany
    Methods Mol Biol 961:179-91. 2013
    ..In this chapter we describe in detail the use of stable isotope labeling by amino acids in cell culture for an unbiased quantitative analysis of protein dynamics in the two major cell types of the skin, keratinocytes and fibroblasts...
  39. doi request reprint Why human pemphigoid autoantibodies do not trigger disease by the passive transfer into mice?
    Alina Sesarman
    Department of Dermatology, University of Freiburg, Freiburg, Germany
    Immunol Lett 143:92-100. 2012
    ..These results indicate that for disease models using the passive transfer of patient autoantibodies, their interaction with the innate factors of the host should be optimized to match the human situation...
  40. pmc Integrin α3 mutations with kidney, lung, and skin disease
    Cristina Has
    Department of Dermatology, University Freiburg Medical Center, Freiburg, Germany
    N Engl J Med 366:1508-14. 2012
    ..The renal and respiratory features predominated, and the lung involvement accounted for the lethal course of the disease. Although skin fragility was mild, it provided clues to the diagnosis...
  41. doi request reprint Mild recessive dystrophic epidermolysis bullosa associated with two compound heterozygous COL7A1 mutations
    Wibke von Bartenwerffer
    Department of Dermatology, University of Cologne, Kerpener Str 62, 50937 Cologne, Germany
    Eur J Dermatol 21:170-2. 2011
    ..3832-2A > G and the glycine substitution p.G1347W. Our data extend the current knowledge on genotype-phenotype correlations in dystrophic epidermolysis bullosa...
  42. doi request reprint Generation of a Functional Non-Shedding Collagen XVII Mouse Model: Relevance of Collagen XVII Shedding in Wound Healing
    Joanna Jackow
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany
    J Invest Dermatol 136:516-25. 2016
    ....
  43. ncbi request reprint Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene
    Cristina Has
    Department of Dermatology, University of Freiburg, Freiburg, Germany
    J Invest Dermatol 126:1776-83. 2006
    ..This finding has implications for optimal KIND1 mutational screening in KS individuals...
  44. pmc Dominant-negative effects of COL7A1 mutations can be rescued by controlled overexpression of normal collagen VII
    Anja Fritsch
    Department of Dermatology, University Medical Center Freiburg, 79104 Freiburg, Germany
    J Biol Chem 284:30248-56. 2009
    ..Therefore, increasing the expression of WT collagen VII in the skin of patients with DDEB can be considered a valid therapeutic approach...
  45. pmc Development of an ELISA for sensitive and specific detection of IgA autoantibodies against BP180 in pemphigoid diseases
    Kinga Csorba
    Department of Dermatology, University of Freiburg, Hauptstrasse 7, 79104, Freiburg, Germany
    Orphanet J Rare Dis 6:31. 2011
    ..Therefore, the aim of the present study was to develop an ELISA to detect IgA autoantibodies against collagen XVII in the sera of patients with pemphigoids...
  46. doi request reprint Collagen XVII Shedding Suppresses Re-Epithelialization by Directing Keratinocyte Migration and Dampening mTOR Signaling
    Joanna Jackow
    Department of Dermatology, Medical Center, University of Freiburg, Germany Electronic address
    J Invest Dermatol 136:1031-41. 2016
    ..Thus, our studies identify ectodomain shedding of collagen XVII as an interactive platform that translates shedding into a signal for directed cell growth and motility during skin regeneration. ..
  47. pmc Losartan ameliorates dystrophic epidermolysis bullosa and uncovers new disease mechanisms
    Alexander Nyström
    Department of Dermatology, Medical Center University of Freiburg, Freiburg, Germany
    EMBO Mol Med 7:1211-28. 2015
    ..Inhibition of TGF-β activity limits these unwanted outcomes and thereby substantially ameliorates long-term symptoms...
  48. doi request reprint Collagen VII Half-Life at the Dermal-Epidermal Junction Zone: Implications for Mechanisms and Therapy of Genodermatoses
    Tobias Kühl
    Department of Dermatology, Medical Center University of Freiburg, 79104 Freiburg, Germany
    J Invest Dermatol 136:1116-23. 2016
    ..Moreover, by showing what we define as an intermediate half-life of collagen VII, our study challenges the view of the dermal-epidermal junction zone as a static structure with very slow turnover. ..
  49. doi request reprint Injury-Driven Stiffening of the Dermis Expedites Skin Carcinoma Progression
    Venugopal R Mittapalli
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany
    Cancer Res 76:940-51. 2016
    ..Collectively, these findings provide a new mechanism by which RDEB tissue becomes malignant and offer new druggable therapeutic targets to prevent cSCC onset...
  50. doi request reprint Loss of collagen VII is associated with reduced transglutaminase 2 abundance and activity
    Victoria Kuttner
    1 Department of Dermatology, Medical Center University of Freiburg, Freiburg, Germany 2 Freiburg Institute for Advanced Studies FRIAS, University of Freiburg, Freiburg, Germany 3 ZBSA Center for Biological Systems Analysis, University of Freiburg, Freiburg, Germany
    J Invest Dermatol 134:2381-9. 2014
    ....
  51. doi request reprint Comparative quantitation of proteome alterations induced by aging or immortalization in primary human fibroblasts and keratinocytes for clinical applications
    Adrian Sprenger
    Freiburg Institute for Advanced Studies, School of Life Science LIFENET, University of Freiburg, Albertstr 19, 79104 Freiburg, Germany
    Mol Biosyst 6:1579-82. 2010
    ....
  52. ncbi request reprint Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-Hünermann-Happle syndrome
    Cristina Has
    Department of Dermatology, University Hospital Muenster, Germany
    J Invest Dermatol 118:851-8. 2002
    ..This lack of correlation may be due to differences in X-inactivation between different tissues of the same patient and/or loss of the mutant clone by outgrowth of proficient clones after some time...
  53. pmc Transmembrane collagen XVII modulates integrin dependent keratinocyte migration via PI3K/Rac1 signaling
    Stefanie Löffek
    Department of Dermatology and Venerology, University Medical Center Freiburg, Freiburg, Germany
    PLoS ONE 9:e87263. 2014
    ....
  54. pmc Epidermal ADAM17 maintains the skin barrier by regulating EGFR ligand-dependent terminal keratinocyte differentiation
    Claus Werner Franzke
    Department of Dermatology, University Freiburg Medical Center, D 79104 Freiburg, Germany
    J Exp Med 209:1105-19. 2012
    ....
  55. pmc High Local Concentrations of Intradermal MSCs Restore Skin Integrity and Facilitate Wound Healing in Dystrophic Epidermolysis Bullosa
    Tobias Kühl
    Department of Dermatology, Medical Center University of Freiburg, Freiburg, Germany
    Mol Ther 23:1368-79. 2015
    ..We conclude that MSCs are viable options for localized DEB therapy. Importantly, however, the cell number needed to achieve therapeutic efficacy excludes the use of systemic administration. ..
  56. ncbi request reprint Molecular and diagnostic aspects of genetic skin fragility
    Cristina Has
    Department of Dermatology, University of Freiburg, Hauptstr 7, 79104 Freiburg, Germany
    J Dermatol Sci 44:129-44. 2006
    ..Extensive mutation analysis and subsequent identification of new gene defects provide accurate diagnostics, and lead to better understanding of the functions of the respective proteins, with the potential for new therapeutic strategies...
  57. ncbi request reprint Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa
    Johannes S Kern
    Department of Dermatology, University of Freiburg, Hauptstrasse 7, Freiburg 79104, Germany
    J Invest Dermatol 126:1006-12. 2006
    ..In addition, the studies disclosed a de novo mutation in recessive DEB and two new polymorphisms in the COL7A1 gene...
  58. doi request reprint Recalcitrant pemphigus vulgaris responding to systemic tacrolimus
    Viola Büsing
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany
    Dermatology 221:122-6. 2010
    ..Tacrolimus was well tolerated, and clinical improvement allowed tapering of corticosteroids. Thus, oral tacrolimus may be a therapeutic alternative for patients with recalcitrant PV...
  59. pmc Targeting epidermal lipids for treatment of Mendelian disorders of cornification
    Dimitra Kiritsi
    Department of Dermatology, Medical Center University of Freiburg, 79104 Freiburg, Germany
    Orphanet J Rare Dis 9:33. 2014
    ..The skin manifestations of the CHILD syndrome have been attributed to two major mechanisms: deficiency of cholesterol, probably influencing the proper corneocyte membrane formation, and toxic accumulation of aberrant steroid precursors...
  60. doi request reprint Differential proteomic analysis distinguishes tissue repair biomarker signatures in wound exudates obtained from normal healing and chronic wounds
    Sabine A Eming
    Department of Dermatology, Center for Molecular Medicine Cologne CMMC, Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases CECAD, Institute for Oral and Musculoskeletal Biology, University of Cologne, Cologne, Germany
    J Proteome Res 9:4758-66. 2010
    ..This analysis therefore represents an important basis for the search for potential biomarkers, which give rise to a better understanding and monitoring of disease progression in chronic wounds...
  61. ncbi request reprint Molecular diagnostics facilitate distinction between lethal and non-lethal subtypes of junctional epidermolysis bullosa: a case report and review of the literature
    Jurgen Bauer
    Department of Dermatology, Eberhard Karls University Tubingen, Liebermeisterstrasse 25, 72076 Tubingen, Germany
    Eur J Pediatr 161:672-9. 2002
    ..Markedly reduced staining for laminin 5 indicated the Herlitz type of JEB (OMIM 226700), which could be confirmed by mutation analysis in the LAMB3 gene, showing homozygous nonsense mutations...
  62. doi request reprint Basement membrane antibodies in sera of haematopoietic cell recipients are associated with graft-versus-host disease
    S C Hofmann
    Department of Dermatology, University Medical Center Freiburg, Germany
    J Eur Acad Dermatol Venereol 24:587-94. 2010
    ..Mucocutaneous lesions of GvHD may mimic bullous autoimmune dermatoses, and 10 cases of concurrent GvHD and a bullous autoimmune disease have been reported in the literature...
  63. doi request reprint Mild clinical phenotype of Kindler syndrome associated with late diagnosis and skin cancer
    C Has
    Department of Dermatology, University Medical Centre Freiburg, Freiburg, Germany
    Dermatology 221:309-12. 2010
    ..Taken together, we describe the natural course of KS, the morphological abnormalities occurring in the skin of older KS patients, we discuss the differential diagnosis and the association between KS and squamous cell carcinoma...
  64. doi request reprint Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations
    H Schumann
    Department of Dermatology, University Medical Center Freiburg, 79104 Freiburg, Germany
    Br J Dermatol 159:464-9. 2008
    ..Fewer than 40 patients with autosomal dominant or recessive inheritance, or sporadic DEB-Pr, have been described in the literature...
  65. ncbi request reprint UV-B-induced cutaneous inflammation and prospects for antioxidant treatment in Kindler syndrome
    Kristin Maier
    Department of Dermatology, Medical Center University of Freiburg, 79104 Freiburg, Germany
    Hum Mol Genet . 2016
    ..Furthermore, we established organotypic KS models, a valuable in vitro tool for research with a morphology similar to the skin of patients in situ...
  66. doi request reprint Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy
    Manuela Pigors
    Department of Dermatology, Medical Center, University Freiburg, Freiburg, Germany
    Acta Derm Venereol 95:337-40. 2015
    ..Early diagnosis is crucial and cardiac examinations have to be performed on a regular basis. ..
  67. doi request reprint Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa
    Dimitra Kiritsi
    Department of Dermatology and Venereology, University Medical Center, Freiburg, Germany
    J Invest Dermatol 134:2097-104. 2014
    ....
  68. doi request reprint One goal, different strategies--molecular and cellular approaches for the treatment of inherited skin fragility disorders
    Christian Hünefeld
    Department of Dermatology, Eberhard Karls University, Tubingen, Germany
    Exp Dermatol 22:162-7. 2013
    ..In this review, we summarize current concepts of how inherited blistering diseases might be treated in the future and discuss the opportunities, promises, concerns and risks of these innovative approaches...
  69. doi request reprint Results of a survey of German dermatologists on the therapeutic approaches to pemphigus and bullous pemphigoid
    Silke C Hofmann
    Department of Dermatology, University Medical Center Freiburg, Hauptstrasse 7Freiburg D 79104, Germany
    J Dtsch Dermatol Ges 7:227-33. 2009
    ..The aim of this survey was to assess the current treatment standards at German dermatological hospitals and the need for future therapeutic trials...
  70. doi request reprint Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort
    J S Kern
    Department of Dermatology, University Medical Center Freiburg, 79104 Freiburg, Germany
    Br J Dermatol 161:1089-97. 2009
    ..Recently, the MMP1 promoter single nucleotide polymorphism (SNP) rs1799750, designated as 1G 2G, was shown to be involved in modulation of disease severity in patients with recessive DEB (RDEB), and was proposed as a genetic modifier...
  71. doi request reprint Plasmin plays a role in the in vitro generation of the linear IgA dermatosis antigen LADB97
    Silke C Hofmann
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany
    J Invest Dermatol 129:1730-9. 2009
    ....
  72. pmc Altered MCM protein levels and autophagic flux in aged and systemic sclerosis dermal fibroblasts
    Verónica I Dumit
    1 Freiburg Institute for Advanced Studies FRIAS, School of Life Science LIFENET, University of Freiburg, Freiburg, Germany 2 Center for Biological Systems Analysis ZBSA, University Medical Center Freiburg, Freiburg, Germany
    J Invest Dermatol 134:2321-30. 2014
    ..Hence, at the molecular level, SSc fibroblasts exhibit intrinsic characteristics of fibroblasts from aged skin. ..
  73. ncbi request reprint Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly
    Felix B Müller
    Department of Dermatology, University of Cologne, Cologne, Germany
    Hum Mutat 27:719-20. 2006
    ..Detailed knowledge of the spectrum of EBS mutations and their genotype-phenotype correlation is essential for accurate genetic counselling and prenatal diagnosis...
  74. pmc Mechanisms of fibroblast cell therapy for dystrophic epidermolysis bullosa: high stability of collagen VII favors long-term skin integrity
    Johannes S Kern
    Deparment of Dermatology, University Medical Center Freiburg, Freiburg, Germany
    Mol Ther 17:1605-15. 2009
    ....
  75. doi request reprint Involvement of the ubiquitin-proteasome system in the stabilization of cell-cell contacts in human keratinocytes
    Stefanie Löffek
    Department of Dermatology, University of Freiburg, Freiburg, Germany
    Exp Dermatol 21:791-3. 2012
    ..Here, we provide evidence for a calcium-independent, but UPS-dependent, stabilization of cell-cell contacts in human keratinocytes, which might be mediated by the maintenance of DP at desmosomes...
  76. doi request reprint Trigeminal trophic syndrome with extensive ulceration following herpes zoster
    Ocko Kautz
    Department of Dermatology, University Medical Center Hauptstrasse 7, 79104 Freiburg, Germany
    Eur J Dermatol 19:61-3. 2009
    ..We report a case of a patient who developed a strictly unilateral crescent ulcer of the ala nasi in addition to an extensive ulceration of the forehead and scalp following herpes zoster ophthalmicus...
  77. ncbi request reprint Bullous pemphigoid associated with hypereosinophilic syndrome: simultaneous response to imatinib
    Silke C Hofmann
    Department of Dermatology, University of Freiburg Freiburg, Germany
    J Am Acad Dermatol 56:S68-72. 2007
    ..We describe a patient with coexistence of hypereosinophilic syndrome and bullous pemphigoid. Treatment with the novel tyrosine kinase inhibitor imatinib mesylate resulted in durable remission of hypereosinophilia and skin lesions...
  78. doi request reprint Perifollicular protrusions--mid-dermal elastolysis
    Andreas Volz
    Department of Dermatology, Freiburg, Germany
    J Dtsch Dermatol Ges 7:68-9. 2009
    ..The histopathologic correlate is a bandlike loss of elastic tissue within the mid-dermis.We present a typical case with prominent perifollicular protrusions...
  79. ncbi request reprint Frequency, function and CLA expression of CD4+CD25+FOXP3+ regulatory T cells in bullous pemphigoid
    Anne Rensing-Ehl
    Clinical Research Group Allergology, Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany
    Exp Dermatol 16:13-21. 2007
    ..These data argue against a general defect of CD4+CD25+FOXP3+ regulatory T cells in patients with BP...
  80. ncbi request reprint Biology of anchoring fibrils: lessons from dystrophic epidermolysis bullosa
    L Bruckner-Tuderman
    Department of Dermatology, University of Munster, Germany
    Matrix Biol 18:43-54. 1999
    ..Therefore, not only definition of mutation(s) but also cell biological, protein chemical and suprastructural studies of the mutated molecules yield novel insight into the molecular pathomechanisms underlying disease...
  81. doi request reprint Cell-based therapies for epidermolysis bullosa - from bench to bedside
    Jouni Uitto
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, Pennsylvania 19107, USA
    J Dtsch Dermatol Ges 10:803-7. 2012
    ..This overview highlights cell-based approaches that have recently been tested in pilot clinical trials, attesting to the potential of regenerative medicine for blistering skin diseases...
  82. doi request reprint Expression of innate defense antimicrobial peptides in hidradenitis suppurativa
    Silke C Hofmann
    Department of Dermatology, University Freiburg Medical Center, Freiburg, Germany
    J Am Acad Dermatol 66:966-74. 2012
    ..Hidradenitis suppurativa (HS) is a chronic inflammatory disorder of apocrine gland-bearing skin. It is associated with alterations in innate immunity and frequent bacterial infections...
  83. doi request reprint Cutaneous metastases of visceral tumours: a review
    Dorothee Nashan
    Department of Dermatology, University Medical Center Freiburg, Hauptstr 7, 79104, Freiburg, Germany
    J Cancer Res Clin Oncol 135:1-14. 2009
    ..The clinical appearance and patterns of distribution of cutaneous metastases, the characterisation of clinical outcomes and available therapeutic options are compiled...
  84. doi request reprint A single-center open-label long-term comparison of tacrolimus ointment and topical corticosteroids for treatment of atopic dermatitis
    Ella Neumann
    Department of Dermatology, University Medical Center, Freiburg, Germany
    J Dtsch Dermatol Ges 6:548-53. 2008
    ..This long-term study compares the efficacy of tacrolimus 0.1% ointment with topical corticosteroids as standard therapy in patients with moderate atopic dermatitis...
  85. doi request reprint Contact dermatitis due to use of Octenisept in wound care
    Trevis Calow
    Department of Dermatology, University Medical Center Freiburg, Germany
    J Dtsch Dermatol Ges 7:759-65. 2009
    ..It is considered to have a very low allergenic potential. Thus far, neither allergic nor irritant contact dermatitis to the product has been described...
  86. ncbi request reprint Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering
    N Hammami-Hauasli
    Department of Dermatology, University of Munster, D 48149 Munster, Germany
    J Biol Chem 273:19228-34. 1998
    ....
  87. ncbi request reprint Hereditary skin diseases of anchoring fibrils
    L Bruckner-Tuderman
    Department of Dermatology, University of Munster, Germany
    J Dermatol Sci 20:122-33. 1999
    ..Therefore, not only definition of mutations with diagnostic analyses, but also cell biological, protein chemical and suprastructural studies of the mutated molecules are required for understanding the pathomechanisms underlying DEB...
  88. ncbi request reprint Introduction of diagnosis-related groups in Germany: evaluation of impact on in-patient care in a dermatological setting
    P Hensen
    Department of Dermatology, Medical Management, University of Munster, D 48149 Munster, Germany
    Eur J Public Health 18:85-91. 2008
    ..The aim of this study was to report data-based experiences from the introduction process and to evaluate the impact on in-patient dermatology...
  89. ncbi request reprint A microinjected COL7A1-PAC vector restores synthesis of intact procollagen VII in a dystrophic epidermolysis bullosa keratinocyte cell line
    Sabine Mecklenbeck
    Department of Dermatology, University of Munster, Germany
    Hum Gene Ther 13:1655-62. 2002
    ..These data demonstrate a "proof of principle" for genomic DNA vectors as a means of restoring collagen VII production in RDEB-HS skin and help develop future gene therapy protocols...
  90. ncbi request reprint Autoantibodies in a subgroup of patients with linear IgA disease react with the NC16A domain of BP1801
    D Zillikens
    Department of Dermatology, University of Wurzburg, Germany
    J Invest Dermatol 113:947-53. 1999
    ..Our results demonstrate that IgA autoantibodies from a subset of linear IgA disease patients react with the same sites on BP180 that are targeted by IgG autoantibodies in bullous pemphigoid...
  91. ncbi request reprint Blistering skin diseases: models for studies on epidermal-dermal adhesion
    L Bruckner-Tuderman
    Department of Dermatology, University of Munster, Germany
    Biochem Cell Biol 74:729-36. 1996
    ....
  92. ncbi request reprint Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations
    N Hammami-Hauasli
    Department of Dermatology, University of Munster, Germany
    J Invest Dermatol 111:1214-9. 1998
    ..Accordingly, TBDN keratinocytes in vitro accumulated collagen VII intracellularly in the rough endoplasmic reticulum...
  93. ncbi request reprint High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa
    M Csikos
    Department of Dermatology, Semmelweis University, Maria u 41, H 1085 Budapest, Hungary
    Br J Dermatol 152:879-86. 2005
    ..These mutations are usually specific for individual families; only a few cases of recurring mutations have been identified...
  94. ncbi request reprint Childhood epidermolysis bullosa acquisita: a novel variant with reactivity to all three structural domains of type VII collagen
    E Schmidt
    Department of Dermatology, University of Wurzburg, Josef Schneider Str 2, 97080 Wurzburg, Germany
    Br J Dermatol 147:592-7. 2002
    ..Oral methylprednisolone and dapsone led to clearance of lesions, which healed with mild scarring and milia formation. Treatment was discontinued after 1 year and the patient has now been in remission for more than 3 years...
  95. ncbi request reprint Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia
    L Pulkkinen
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    Lab Invest 76:823-33. 1997
    ..Because beta 4 integrin is expressed not only in the skin but also in the epithelial lining of the stomach, the absent expression of this integrin in the proband may explain the blistering tendency and development of pyloric atresia...
  96. ncbi request reprint Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene
    J O Winberg
    Biochemistry Department, Institute of Medical Biology, University of Tromsø, Norway
    Hum Mol Genet 6:1125-35. 1997
    ..Thus, different combinations of dominant and recessive COL7A1 mutations can modulate disease activity of EBD and alter the clinical presentation of the patients...
  97. ncbi request reprint The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism
    C Has
    Department of Dermatology, University of Munster, von Esmarch Strasse Germany
    Hum Mol Genet 9:1951-5. 2000
    ..We conclude that gonadal mosaicism has to be considered when dealing with seemingly sporadic cases...
  98. ncbi request reprint Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa
    M Terracina
    Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell Immacolata, IRCCS, Rome, Italy
    J Invest Dermatol 111:744-50. 1998
    ....
  99. ncbi request reprint Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex
    F B Muller
    Klinik und Poliklinik fur Dermatologie und Venerologie, Universitat zu Koln, Germany
    J Invest Dermatol 111:900-2. 1998
    ..In addition, they confirm that the gene segments encoding the linker regions represent hotspots for mutations...
  100. ncbi request reprint Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets
    E J Nordal
    Department of Dermatology, Ullevål Hospital and University of Oslo, Oslo, Norway
    Br J Dermatol 144:151-7. 2001
    ..By contrast, the novel point mutation of this study is clinically silent in the heterozygous state and leads to a severe DEB subtype when homozygous...
  101. ncbi request reprint Compound heterozygosity for silent and dominant glycine substitution mutations in COL7A1 leads to a marked transient intracytoplasmic retention of procollagen VII and a moderately severe dystrophic epidermolysis bullosa phenotype
    H Shimizu
    J Invest Dermatol 113:419-21. 1999