H Traupe

Summary

Country: Germany

Publications

  1. ncbi request reprint Functional X-chromosomal mosaicism of the skin: Rudolf Happle and the lines of Alfred Blaschko
    H Traupe
    Department of Dermatology, University of Munster, Munster, Germany
    Am J Med Genet 85:324-9. 1999
  2. ncbi request reprint The Conradi-Hünermann-Happle syndrome is caused by mutations in the gene that encodes a 8- 7 sterol isomerase and is biochemically related to the CHILD syndrome
    H Traupe
    Department of Dermatology, University of Munster, Von Esmarch Str 56, D 48149 Munster, Germany
    Eur J Dermatol 10:425-8. 2000
  3. doi request reprint Complete filaggrin deficiency in ichthyosis vulgaris is associated with only moderate changes in epidermal permeability barrier function profile
    A M Perusquía-Ortiz
    Department of Dermatology, University of Munster, Munster, Germany
    J Eur Acad Dermatol Venereol 27:1552-8. 2013
  4. doi request reprint Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis
    M J Arin
    Department of Dermatology, University of Cologne, Kerpener Strasse 62, 50931 Cologne, Germany
    Br J Dermatol 164:442-7. 2011
  5. ncbi request reprint A novel in situ method for the detection of deficient transglutaminase activity in the skin
    M Raghunath
    Department of Dermatology, University of Munster, Germany
    Arch Dermatol Res 290:621-7. 1998
  6. ncbi request reprint Congenital atrichia with nail dystrophy, abnormal facies, and retarded psychomotor development in two siblings: a new autosomal recessive syndrome?
    B R Vogt
    Department of Dermatology, University of Munster, West Germany
    Pediatr Dermatol 5:236-42. 1988
  7. doi request reprint Ichthyosis vulgaris: novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup
    V Oji
    Department of Dermatology, University of Munster, Von Esmarch Str 58, 48149 Munster, Germany
    Br J Dermatol 160:771-81. 2009
  8. 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
  9. ncbi request reprint Hereditary angioedema with normal C1-inhibitor activity in women
    K Bork
    Department of Dermatology, University of Mainz, Germany
    Lancet 356:213-7. 2000
  10. ncbi request reprint Plasminogen activator inhibitor-2 is expressed in different types of congenital ichthyosis: in vivo evidence for its cross-linking into the cornified cell envelope by transglutaminase-1
    V Oji
    Department of Dermatology, University of Munster, Germany
    Br J Dermatol 154:860-7. 2006

Collaborators

Detail Information

Publications26

  1. ncbi request reprint Functional X-chromosomal mosaicism of the skin: Rudolf Happle and the lines of Alfred Blaschko
    H Traupe
    Department of Dermatology, University of Munster, Munster, Germany
    Am J Med Genet 85:324-9. 1999
    ..Most likely, the Happle syndrome gene is not lethal for hemizygously affected males but rather similar to the example of epilepsy with mental retardation limited to females, the gene actually spares male gene carriers...
  2. ncbi request reprint The Conradi-Hünermann-Happle syndrome is caused by mutations in the gene that encodes a 8- 7 sterol isomerase and is biochemically related to the CHILD syndrome
    H Traupe
    Department of Dermatology, University of Munster, Von Esmarch Str 56, D 48149 Munster, Germany
    Eur J Dermatol 10:425-8. 2000
    ..As gonadal mosaicism seems to be frequent in this disease, a recurrence risk for further pregnancies has to be considered when dealing with a seemingly sporadic case...
  3. doi request reprint Complete filaggrin deficiency in ichthyosis vulgaris is associated with only moderate changes in epidermal permeability barrier function profile
    A M Perusquía-Ortiz
    Department of Dermatology, University of Munster, Munster, Germany
    J Eur Acad Dermatol Venereol 27:1552-8. 2013
    ..Data on the effect of FLG mutations on epidermal barrier function in IV are very scarce...
  4. doi request reprint Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis
    M J Arin
    Department of Dermatology, University of Cologne, Kerpener Strasse 62, 50931 Cologne, Germany
    Br J Dermatol 164:442-7. 2011
    ..The presence of palmoplantar keratoderma suggests KRT1 mutations, whereas KRT10 mutations in most instances give rise to the nonpalmoplantar variants...
  5. ncbi request reprint A novel in situ method for the detection of deficient transglutaminase activity in the skin
    M Raghunath
    Department of Dermatology, University of Munster, Germany
    Arch Dermatol Res 290:621-7. 1998
    ..Coupled with immunohistochemical assays using transglutaminase 1 antibodies, our method allows rapid identification of those cases caused by alterations in this enzyme...
  6. ncbi request reprint Congenital atrichia with nail dystrophy, abnormal facies, and retarded psychomotor development in two siblings: a new autosomal recessive syndrome?
    B R Vogt
    Department of Dermatology, University of Munster, West Germany
    Pediatr Dermatol 5:236-42. 1988
    ..We therefore conclude that we may be dealing with a new genetic entity. The occurrence of the disorder in two siblings with unaffected parents suggests an autosomal recessive mode of inheritance...
  7. doi request reprint Ichthyosis vulgaris: novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup
    V Oji
    Department of Dermatology, University of Munster, Von Esmarch Str 58, 48149 Munster, Germany
    Br J Dermatol 160:771-81. 2009
    ..Ichthyosis vulgaris (IV) is a genetic disorder with a prevalence of 1:250-1000 caused by filaggrin (FLG) mutations, which also predispose to atopic diseases...
  8. 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...
  9. ncbi request reprint Hereditary angioedema with normal C1-inhibitor activity in women
    K Bork
    Department of Dermatology, University of Mainz, Germany
    Lancet 356:213-7. 2000
    ..We report an unusual variant of HAE with normal biochemical C1-inhibitor function, occurring only in women...
  10. ncbi request reprint Plasminogen activator inhibitor-2 is expressed in different types of congenital ichthyosis: in vivo evidence for its cross-linking into the cornified cell envelope by transglutaminase-1
    V Oji
    Department of Dermatology, University of Munster, Germany
    Br J Dermatol 154:860-7. 2006
    ..Protease inhibitors are essential for skin homeostasis and in particular for the regulation of the desquamation process. Therefore, an aberrant expression of PAI-2 could be involved in the pathogenesis of certain cornification disorders...
  11. ncbi request reprint [Subcutaneous fat necrosis of the newborn]
    Kathrin Wessling-Assmann
    Universitäts Hautklinik Münster
    J Dtsch Dermatol Ges 1:297-9. 2003
    ..This rarely diagnosed skin disease is harmless and self-limited, yet the associated hypercalcaemia has a high complication rate...
  12. ncbi request reprint Topical pimecrolimus: a novel therapeutic option for Netherton syndrome
    V Oji
    Br J Dermatol 153:1067-8. 2005
  13. ncbi request reprint [Ichthyoses and related keratinization disorders. Management, clinical features and genetics]
    H Traupe
    Klinik und Poliklinik für Hautkrankheiten, Allgemeine Dermatologie und Venerologie, Universitatsklinikum Munster
    Hautarzt 55:931-41. 2004
    ....
  14. ncbi request reprint [Comèl-Netherton syndrome with bacterial superinfection]
    G Beljan
    Hautklinik der Westfälischen Wilhelms Universität Münster, Munster
    Hautarzt 54:1198-202. 2003
    ..It is possible, that this super antigen is involved in the observed aggravation of disease. The topical therapy with tacrolimus is an easy, flexible therapeutic option for this rare genodermatosis...
  15. ncbi request reprint Interleukin-10 promoter polymorphism IL10.G and familial early onset psoriasis
    P Hensen
    Department of Dermatology, University of Munster, Munster, Germany
    Br J Dermatol 149:381-5. 2003
    ..G) and in a recent case-control study the IL10.G13 (144 bp) allele was found to be associated with familial early onset psoriasis (type 1 psoriasis) having a susceptible effect...
  16. ncbi request reprint Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens
    J A Rothnagel
    Department of Cell Biology, Baylor College of Medicine, Houston, Texas 77030
    Nat Genet 7:485-90. 1994
    ....
  17. ncbi request reprint A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma
    G Y Joh
    Department of Cell Biology, Baylor College of Medicine, Houston, Texas 77030, U S A
    J Invest Dermatol 108:357-61. 1997
    ..We conclude that annular epidermolytic ichthyosis should be considered a variant of bullous congenital ichthyosiform erythroderma...
  18. 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...
  19. ncbi request reprint [Cervical myelopathy induced by calcium pyrophosphate tophus in primary chondrocalcinosis]
    K L Schmidt
    Zentrum für Innere Medizin der Justus Liebig Universität Giessen, Kerckhoff Klinik, Ludwigstr 37 39, 61231 Bad Nauheim, Germany
    Z Rheumatol 62:179-84. 2003
    ....
  20. ncbi request reprint Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature
    M M Gedicke
    Division of Dermatogenetics, Cologne Centre for Genomics, University of Cologne, Zülpicher Str 47, 50674 Cologne, Germany
    Br J Dermatol 154:167-71. 2006
    ..This revealed an equal expression of mutant and wild-type alleles of LOR in an affected individual. These findings further underline the gain-of-function theory for mutant LOR in loricrin keratoderma...
  21. pmc Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients
    U Huffmeier
    Institute of Human Genetics, University of Erlangen Nuremberg, 91054 Erlangen, Germany
    J Med Genet 43:517-22. 2006
    ..We investigated its role in susceptibility to psoriasis, the relevance of possibly other disease-causing variants, and interdependency of the major risk factor for psoriasis at PSORS1...
  22. ncbi request reprint Efficacy of fumaric acid ester monotherapy in psoriasis pustulosa palmoplantaris
    H Stander
    Br J Dermatol 149:220-2. 2003
  23. ncbi request reprint Association scan of the novel psoriasis susceptibility region on chromosome 19: evidence for both susceptible and protective loci
    P Hensen
    Max Delbruck Center MDC for Molecular Medicine, Berlin, Germany
    Exp Dermatol 12:490-6. 2003
    ..Analysis of a dense marker set from these refined regions will eventually allow identification of the underlying susceptibility alleles...
  24. ncbi request reprint [Chronic Marchiafava-Bignami syndrome in alcoholism of many years]
    S Trittmacher
    Abteilung Neuroradiologie der Justus Liebig Universität, Giessen
    Rofo 177:142-3. 2005
  25. pmc Lack of genetic association of the three more common polymorphisms of CARD15 with psoriatic arthritis and psoriasis in a German cohort
    J Lascorz
    Institute of Human Genetics, University of Erlangen Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany
    Ann Rheum Dis 64:951-4. 2005
    ....
  26. ncbi request reprint Fine mapping of the human biglycan (BGN) gene within the Xq28 region employing a hybrid cell panel
    H Traupe
    Department of Human Genetics, University Hospital, Nijmegen, The Netherlands
    Genomics 13:481-3. 1992
    ..Hence, BGN is a candidate gene for the Happle syndrome...