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  • 51. Tarlow, JK
    et al.
    Cork, MJ
    Clay, FE
    Schmitt-Egenolf, Marcus
    Sections of Molecular Medicine Dermatology, Department of Medicine and Pharmacology. University of sheffield, Sheffield S10 2JF, U.K..
    Crane, AM
    Stierle, C
    Boehncke, WH
    Eiermann, TH
    Blakemore, AI
    Bleehen, SS
    Sterry, W
    Duff, GV
    Association between interleukin-1 receptor antagonist (IL-1ra) gene polymorphism and early and late-onset psoriasis1997In: British Journal of Dermatology, ISSN 0007-0963, E-ISSN 1365-2133, Vol. 136, no 1, p. 147-148Article in journal (Refereed)
  • 52. Tay, GK
    et al.
    Hui, J
    Gaudieri, S
    Schmitt-Egenolf, Marcus
    Department of Dermatology, School of Medicine, Humboldt University, Berlin, Germany.
    Martinez, OP
    Leelayuwat, C
    Williamson, JF
    Eiermann, TH
    Dawkins, RL
    PERB11 (MIC): a polymorphic MHC gene is expressed in skin and single nucleotide polymorphisms are associated with psoriasis.2000In: Clinical and Experimental Immunology, ISSN 0009-9104, E-ISSN 1365-2249, Vol. 119, no 3, p. 553-558Article in journal (Refereed)
    Abstract [en]

    The susceptibility genes for psoriasis remain to be identified. At least one of these must be in the major histocompatibility complex (MHC) to explain associations with alleles at human leucocyte antigen (HLA)-A, -B, -C, -DR, -DQ and C4. In fact, most of these alleles are components of just two ancestral haplotypes (AHs) designated 13.1 and 57.1. Although relevant MHC gene(s) could be within a region of at least 4 Mb, most studies have favoured the area near HLA-B and -C. This region contains a large number of non-HLA genes, many of which are duplicated and polymorphic. Members of one such gene family, PERB11.1 and PERB11.2, are expressed in the skin and are encoded in the region between tumour necrosis factor and HLA-B. To investigate the relationship of PERB11.1 alleles to psoriasis, sequence based typing was performed on 97 patients classified according to age of onset and family history. The frequency of the PERB11.1*06 allele is 44% in type I psoriasis but only 7% in controls (Pc = 0.003 by Fisher's exact test, two-tailed). The major determinant of this association is a single nucleotide polymorphism (SNP) within intron 4. In normal and affected skin, expression of PERB11 is mainly in the basal layer of the epidermis including ducts and follicles. PERB11 is also present in the upper keratin layers but there is relative deficiency in the intermediate layers. These findings suggest a possible role for PERB11 and other MHC genes in the pathogenesis of psoriasis.

  • 53.
    Tufvesson Stiller, Helena
    et al.
    Umeå University, Faculty of Medicine, Department of Public Health and Clinical Medicine, Dermatology and Venerology. Regional Cancer Center South East Sweden, Linköping, Sweden.
    Mikiver, R.
    Uppugunduri, S.
    Lindholm, C.
    Månsson Brahme, E.
    Schmitt-Egenolf, Marcus
    Umeå University, Faculty of Medicine, Department of Public Health and Clinical Medicine, Dermatology and Venerology.
    Health Related Quality of Life in Melanoma Patients: characterization of a Swedish cohort2019In: British Journal of Dermatology, ISSN 0007-0963, E-ISSN 1365-2133Article in journal (Refereed)
    Abstract [en]

    Only few studies that have investigated the Health-Related Quality of Life (HR-QoL) in melanoma patients 1-4 , reviewed in Chernyshov et al.5 . This is to the best of our knowledge the first population-based study investigating HR-QoL in proximity to the time the patient has received melanoma diagnosis. A cross-sectional survey, approved by the ethics committee in Umeå, employing the Swedish European Organization for Research and Treatment of Cancer Quality of Life Questionnaires (EORTC QLQ-C30v.3.0) was performed.

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