L Bruckner-Tuderman

Summary

Country: Germany

Publications

  1. 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
  2. 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
  3. 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
  4. pmc The shed ectodomain of collagen XVII/BP180 is targeted by autoantibodies in different blistering skin diseases
    H Schumann
    Department of Dermatology, University of Munster, Munster, Germany
    Am J Pathol 156:685-95. 2000
  5. 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
  6. 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
  7. pmc Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa
    H Schumann
    Department of Dermatology, University of Munster, Germany
    Am J Hum Genet 60:1344-53. 1997
  8. pmc Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes
    M Floeth
    Department of Dermatology, University of Munster, 48149 Munster, Germany
    Am J Hum Genet 65:1530-7. 1999
  9. ncbi request reprint Two forms of collagen XVII in keratinocytes. A full-length transmembrane protein and a soluble ectodomain
    H Schäcke
    Department of Dermatology, University of Muenster, D 48149 Muenster, Germany
    J Biol Chem 273:25937-43. 1998
  10. 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

Collaborators

Detail Information

Publications30

  1. 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
    ....
  2. 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...
  3. 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...
  4. pmc The shed ectodomain of collagen XVII/BP180 is targeted by autoantibodies in different blistering skin diseases
    H Schumann
    Department of Dermatology, University of Munster, Munster, Germany
    Am J Pathol 156:685-95. 2000
    ....
  5. 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
    ....
  6. 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...
  7. pmc Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa
    H Schumann
    Department of Dermatology, University of Munster, Germany
    Am J Hum Genet 60:1344-53. 1997
    ....
  8. pmc Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes
    M Floeth
    Department of Dermatology, University of Munster, 48149 Munster, Germany
    Am J Hum Genet 65:1530-7. 1999
    ..They also demonstrate that identification of one mutation in one gene is not sufficient for determination of the genetic basis of JEB in a given family...
  9. ncbi request reprint Two forms of collagen XVII in keratinocytes. A full-length transmembrane protein and a soluble ectodomain
    H Schäcke
    Department of Dermatology, University of Muenster, D 48149 Muenster, Germany
    J Biol Chem 273:25937-43. 1998
    ..Thus, collagen XVII is not only an unusual type II transmembrane collagen, but the first collagen with a specifically processed, soluble triple-helical ectodomain...
  10. 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...
  11. doi request reprint Verrucous carcinoma in epidermolysis bullosa simplex is possibly associated with a novel mutation in the keratin 5 gene
    H Schumann
    Department of Dermatology, University Medical Center, Freiburg, Germany
    Br J Dermatol 167:929-36. 2012
    ..Some individuals with EBS may be at risk of developing secondary SCC...
  12. 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...
  13. 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...
  14. ncbi request reprint A child with localized vulval pemphigoid and IgG autoantibodies targeting the C-terminus of collagen XVII/BP180
    H Schumann
    University of Munster, D 48149 Munster, Germany
    Br J Dermatol 140:1133-8. 1999
    ..However, differentiation between the scarring and non-scarring course of the disease cannot be made with the present diagnostic markers and therefore careful follow-up of patients with LVPC is required...
  15. doi request reprint Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations
    H Schumann
    Department of Dermatology, University Medical Center Freiburg, Hauptstr 7, 79104 Freiburg, Germany
    Br J Dermatol 169:115-24. 2013
    ..Mutations in the ITGA6 and ITGB4 genes coding for α6β4 integrin compromise dermal-epidermal adhesion and are associated with skin blistering and pyloric atresia (PA), a disorder known as epidermolysis bullosa with PA (EB-PA)...
  16. ncbi request reprint Collagen XVII is destabilized by a glycine substitution mutation in the cell adhesion domain Col15
    K Tasanen
    Department of Dermatology, University of Munster, 48149 Munster, Germany
    J Biol Chem 275:3093-9. 2000
    ..In concert with this, in acquired autoimmune blistering skin diseases, circulating IgG and IgA autoantibodies were found to target rCol15r...
  17. ncbi request reprint Chronic colitis due to an epithelial barrier defect: the role of kindlin-1 isoforms
    J S Kern
    Department of Dermatology, University Medical Center, Freiburg, Germany
    J Pathol 213:462-70. 2007
    ..The different clinical intestinal manifestations in Kindler syndrome patients may be explained by partial functional compensation of kindlin-1 deficiency by the intestinal isoform or by the presence of truncated mutant kindlin-1...
  18. ncbi request reprint Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa
    M Floeth
    Department of Dermatology, University of Munster, Germany
    J Invest Dermatol 111:528-33. 1998
    ....
  19. doi request reprint Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects)
    A W Arnold
    Department of Dermatology, Freiburg University Medical Center, 79104 Freiburg, Germany
    Br J Dermatol 166:1309-13. 2012
    ..There is confusion in the literature concerning disorders caused by EBP (emopamil-binding protein) mutations in males...
  20. 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...
  21. doi request reprint Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype
    M J Arin
    Department of Dermatology, University of Cologne, Kerpener Strasse 62, 50924 Cologne, Germany
    Br J Dermatol 162:1365-9. 2010
    ..Basal epidermolysis bullosa simplex (EBS) is a hereditary skin blistering disorder resulting in most cases from missense mutations in the keratin 5 (KRT5) or keratin 14 (KRT14) genes...
  22. 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...
  23. doi request reprint FERMT1 promoter mutations in patients with Kindler syndrome
    C Has
    Department of Dermatology, Medical Center, University of Freiburg, Freiburg, Germany
    Clin Genet 88:248-54. 2015
    ..Reporter assays showed the functional relevance of the genomic regions deleted in our patients for FERMT1 gene transcription and proved the causal role of the c.-20A>G variant in reducing transcriptional activity. ..
  24. doi request reprint Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies
    C Has
    Department of Dermatology, Medical Center, University of Freiburg, Hauptstrasse 7, 79104, Freiburg, Germany
    Br J Dermatol 172:257-61. 2015
    ..In contrast to the previous cases, malabsorption, hypoalbuminaemia, developmental delay, hypotrichosis or severe recurrent infections were not observed. ..
  25. 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...
  26. 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...
  27. doi request reprint C-terminally truncated kindlin-1 leads to abnormal adhesion and migration of keratinocytes
    C Has
    Department of Dermatology, University Medical Center Freiburg, Hauptstr 7, 79104 Freiburg, Germany
    Br J Dermatol 159:1192-6. 2008
    ..Loss of kindlin-1 leads to abnormalities of cell adhesion and motility, and to skin blistering and progressive poikiloderma as clinical symptoms...
  28. 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...
  29. 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...
  30. 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...