Genetic studies on psoriasis with emphasis on the HLA-region. ISBN

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1 PUBLICATION LIST A. Thesis Genetic studies on psoriasis with emphasis on the HLA-region. ISBN Enerbäck C, Martinsson T, Inerot A, Wahlström J, Enlund F, Yhr M, Swanbeck G. Evidence that HLA-Cw6 determines early onset of psoriasis- obtained using sequence-specific-primers (PCR-SSP). Acta Derm Venereol 1997; 77: Enerbäck C, Martinsson T, Inerot A, Wahlström J, Enlund F, Yhr M, Samuelsson L, Swanbeck G. Significantly earlier age at onset for the HLA-Cw6 positive than for the Cw6 negative psoriatic sibling. J Invest Dermatol 1997; 22: Enlund F, Samuelsson L, Enerbäck C, Inerot A, Wahlström J, Yhr M, Torinsson Å, Martinsson T and Swanbeck G. Analysis of three suggested psoriasis susceptibility loci in a large Swedish set of families; confirmation of linkage to chromosome 6p (HLA-region), and to 17q, but not to 4q. Human Heredity 1999; 49: Enerbäck C, Enlund F, Inerot A, Samuelsson L, Wahlström J, Swanbeck G, Martinsson T. S gene (corneodesmosin) diversity and its relationship to psoriasis; high content of csnps in the HLA-linked S gene. J Invest Dermatol 2000; 114: Enerbäck C, Enlund F, Inerot A, Samuelsson L, Wahlström J, Swanbeck G, Martinsson T Stronger association to HLA-Cw6 than to corneodesmosin (S-gene) polymorphisms in Swedish psoriasis patients. Arch Dermatol Res. 2000; 292: Enerbäck C, Holmqvist D, Inerot A, Enlund F, Samuelsson L, Torinsson Å, Wahlström J, Swanbeck G, Martinsson T. Cytogenetic analysis of 477 psoriatics revealed an increased frequency of aberrations involving chromosome region 11q. Eur J Hum Genet 1999; 7: B. Other publications 7. Soderpalm B, Andersson G, Enerback C, Engel JA: In vivo administration of the 5-HT1A receptor agonist 8-OH-DPAT interferes with the brain GABA (A)/benzodiazepine receptor complexes. Neurofarmacology 1997; 36(8), Engel JA, Enerback C, Fahlke C, Hulthe P, Hard E, Johannessen K, Svensson L, Soderpalm B: Serotonergic and dopaminergic involvement in ethanol intake. Novel Pharmacological interventions for alcoholism. Ed Naranjo CA, Sellers EM, Springer Verlag New York, 1992; Swanbeck G, Inerot A, Martinsson T, Wahlström J, Enerbäck C, Enlund F, Yhr M. Age at onset and different types of psoriasis. Br J Dermatol 1995; 133: Swanbeck G, Inerot A, Martinsson T, Enerbäck C, Enlund F, Yhr M, Wahlström J. Genetic counselling in psoriasis. Br J Dermatol.1997; 137:

2 11. Swanbeck G, Inerot A, Martinsson T, Wahlström J, Enerbäck C, Enlund F, Yhr M. Population genetics of psoriasis: Epidemiology, causes and prevention of skin disorders. Ed Grob JJ, Blackwell Science 1997; Enlund F, Samuelsson L, Enerbäck C, Inerot A, Wahlström J, Yhr M, Torinsson Å, Riley J, Swanbeck G, Martinsson T. Psoriasis susceptibility locus in chromosome region 3q21; identified in patients from southwestern Sweden. Eur J Hum Genet 1999; 7: Samuelsson L, Enlund F, Torinsson Å, Yhr M, Inerot A, Enerbäck C, Wahlström J, Swanbeck G, Martinsson T. A genome-wide search for genes predisposing to familial psoriasis; Results from a stratification approach. Hum Genet 1999; 105: O Brien KP, Holm SJ, Nilsson S, Carlen L, Rosenmuller T, Enerback C, Inerot A, Stahle- Backdal M. The HCR gene on 6p21 is unlikely to be a psoriasis susceptibility gene. J Invest Dermatol 2001; 116, Hewett D, Samulesson L, Polding J, Enlund F, Smart D, Cantone CG, See CG, Chadha S, Inerot A, Enerbäck C, Montgomery D, Christodolou C, Robinson P, Matthews P, Plumpton M, Dykes C, Wahlström J, Swanbeck G, Martinsson T, Roses A, Riley J, Purvis I. Identification of a psoriasis susceptibility candidate gene by linkage disequilibrium mapping with a localized single nucleotide polymorphism map. Genomics 2002; mar 79(3): Enerbäck C, Porter DA, Seth P, Sgroi D, Weremowicz S, Morton CC, Schnitt S, Polyak K. Psoriasin expression in mammary epithelial cells in vitro and in vivo. Cancer Res 2002; jan 1; 62(1): Martinsson H, Yhr M, Enerbäck C: Expression patterns of S100A7 (Psoriasin) and S100A9 (Calgranulin B) in keratinocyte differentiation. Exp Dermatol 2005;14(3): Carlsson H, Yhr M, Petersson S, Collins N, Polyak K, Enerbäck C: S100A7 and A100A9 induction are dependent on reactive oxygen species and are downregulated by Bcl-2 and antioxidants. Cancer Biol Ther Sep;4(9): Carlsson H, Petersson S and Enerbäck C. Cluster analysis of S100 gene expression and genes correlating to psoriasin (S100A7) expression at different stages of breast cancer development Int J Oncology 2005 Dec;27(6): Krop I, März A, Carlsson H, Li X, Qimron N, Gelman R, Schnitt S, Kleer C, Enerbäck C, Polyak K: A putative role for psoriasin in breast tumor progression. Cancer Res 2005 Dec 15;65(24): Inerot A, Enerbäck C, Enlund F, Martinsson T, Samuelsson L, Wahlström J, Swanbeck G. Collecting a set of psoriasis family material through a patient organisation; clinical characterisation and presence of additional disorders. BMC Dermatology 2005, 5: Petersson S, Bylander A, Yhr M, Enerbäck C. S100A7 (Psoriasin), highly expressed in Ductal Carcinoma In Situ (DCIS), is regulated by IFN-gamma in mammary epithelial cells. BMC Cancer 2007, 7:205.

3 23. Erlandson A, Appelqvist F, Wennberg AM, Holm J, Enerbäck C. Novel CDKN2A mutations detected in Western Swedish families with Hereditary Malignant Melanoma. J Invest Dermatol 2007 Jun;127: Erlandsson E, Appelqvist F, Enerbäck C: Epigenetic mutations in CDKN2A in western Swedish families with hereditary malignant melanoma. Molecular medicine reports 1: 89-91, Anderson K, Wong J, Polyak K, Aronzon D and Enerbäck C. Detection of psoriasin/s100a7 in the sera of patients with psoriasis. Br J Dermatol 2009;160(2): Petersson S, Shubbar E, Enerbäck L, Enerbäck C. Expression of S100 proteins in the progression of melanocytic lesions. Melanoma Research 2009 Aug;19(4): Carén H, Erichsen J, Enerbäck C, Olsson L, Sjöberg RM, Abrahamsson J, Kogner P, Martinsson T. High-resolution array copy number analyses and MLPA for detection of deletion, gain, amplification and copy-neutral LOH in primary neuroblastoma tumors; Four cases of homozygous deletions of the CDKN2A gene. BMC Genomics 2008: 29;9: Petersson S, Shubbar E, Yhr M, Kovacs A, Enerbäck C. Loss of ICAM1 signalling induces psoriasin and MUC1 expression in mammary epithelial cells. Breast Cancer Res Treat in press. 29. Öfverholm A, Einbeigi Z, Albertsson P, Skrtic S and Enerbäck C. Association of the MDR1 C3435T variation with paclitaxel-induced neurotoxicity. Oncology letters 1: , Einbeigi Z, Enerbäck C, Karlsson P, Nordling M, Wallgren A: BRCA1 gene mutations may explain more than 80 per cent of excess number of ovarian cancer cases after breast cancer -a population based study from the Western Sweden Health region. Acta Oncol Feb Öfverholm A, Arkblad A, Skrtic S, Albertsson P, Shubbar E, Enerbäck C: Two cases of 5- fluorouracil toxicity linked with gene variants in the DPYD gene. Clin Biochem Feb;43(3): Anderson K, Petersson S, Wong J, Shubbar E, Lokko, Carlström M and Enerbäck C. Elevation of serum EGF, TNF-alpha, and IL-1Ra in active psoriasis vulgaris. Submitted. 33. Shubbar E, Nilsson J, Petersson S, Enerbäck C. Psoriasin is correlated with increased expression of VEGF, RAGE and endothelial cells proliferation. In manuscript.

4 C. Abstract 1. Enerbäck C, Martinsson T, Inerot A, Wahlström J, Enlund F, Yhr M, Swanbeck G. Evidence that HLA-Cw6 determines early onset of psoriasis- obtained using sequence-specific-primers (PCR-SSP) / i Laugarvatn, Island : The 5th workshop of the Nordic Genome Initiative 2. Enerbäck C, Martinsson T, Inerot A, Wahlström J, Enlund F, Yhr M, Swanbeck G. HLA-Cw6 determines early onset of Swedish psoriatics- obtained using sequence-specific primers (PCR-SSP) 29/10-2/ i San Fransisco, USA: The American Society of Human Genetics, 46th annual meeting 3. Enerbäck C, Martinsson T, Inerot A, Wahlström J, Enlund F, Yhr M, Swanbeck G. Betydelsen av HLA-Cw6 för debutåldern vid psoriasis. Läkarstämman, Stockholm Enerbäck C, Martinsson T, Inerot A, Wahlström J, Enlund F, Yhr M, Samuelsson L, Swanbeck G. Different age at onset for psoriatic siblings discordant for the presence of Cw6 at the HLA-C locus. 28/10-1/ i Baltimore, USA: The American Society of Human Genetics, 47th annual meeting. 5. Enerbäck C, Holmqvist D, Inerot A, Enlund F, Samuelsson L, Torinsson Å, Wahlström J, Swanbeck G and Martinsson T. Cytogenetic analysis of 477 Swedish psoriasis patients. 27/10-30/ i Denver USA: The American Society of Human Genetics, 48th annual meeting. 6. Enerbäck C, Holmqvist D, Inerot A, Enlund F, Samuelsson L, Torinsson Å, Wahlström J, Swanbeck G and Martinsson T. Cytogenetisk analys av 477 psoriasispatienter. Läkarstämman, Göteborg Enerbäck C, Staffan Nilsson, Enlund F, Inerot A, Samuelsson L, Torinsson Å, Wahlström J, Swanbeck G and Martinsson T. HLA-Cw6 is the primary association for psoriasis in the HLA region based on TDT analysis. 19/10-23/ i San Fransisco, USA: The American Society of Human Genetics, 49th annual meeting. 8. Enerbäck C: Autoreferat av avhandling. Läkarstämman Stockholm Carlsson C, Petersson S, Enerbäck C. Psoriasin induction correlate to VEGF expression. American Association for Cancer Research, AACR, Washington 1/4-5/ Petersson S, Bylander A, Enerbäck C. S100A7 (Psoriasin) is regulated by IFN-gamma in mammary epithelial cells. Advances in breast cancer research, AACR, San Diego 10-15/ Petersson S, Shubbar, Enerbäck C. Expression of S100 proteins in the progression of melanocytic lesions. European association for cancer research Lyon 5-8/ Carén H, Erichsen J, Enerbäck C, Olsson L, Sjöberg RM, Abrahamsson J, Kogner P, Martinsson T. High-resolution array copy number analyses and MLPA for detection of

5 deletion, gain, amplification and copy-neutral LOH in primary neuroblastoma tumors; Four cases of homozygous deletions of the CDKN2A gene. 13. Advances in breast cancer research, AACR, San Diego 10-15/