Research Topics
Genomes and GenesSpecies | Mauro D'AmatoSummaryAffiliation: Karolinska Institutet Country: Sweden Publications
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Detail Information
Publications
IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac diseaseElisabet Einarsdottir
Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
BMC Med Genet 10:8. 2009..IL23R also associates with psoriasis, suggesting that the gene may be an important candidate for many chronic inflammatory diseases...- Association of TNFSF15 polymorphism with irritable bowel syndromeMarco Zucchelli
Department of Biosciences and Nutrition, Karolinska Institutet, Hälsovag 7 9, 14183, Stockholm, Sweden
Gut 60:1671-7. 2011..0033). Conclusions TNFSF15 is a susceptibility gene for IBS and IBS constipation. As TL1A, the protein encoded by TNFSF15, contributes to the modulation of inflammatory responses, the results support a role of immune activation in IBS... - Neuropeptide s receptor 1 gene polymorphism is associated with susceptibility to inflammatory bowel diseaseMauro D'Amato
Strategic Research Center IRIS, Karolinska Institutet, Stockholm, Sweden
Gastroenterology 133:808-17. 2007..We tested NPSR1 gene polymorphism for association with IBD and verified whether the expression of its 2 major isoforms (NPSR1-A and NPSR1-B) is altered in the intestine of IBD patients... - PepT1 oligopeptide transporter (SLC15A1) gene polymorphism in inflammatory bowel diseaseMarco Zucchelli
Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden
Inflamm Bowel Dis 15:1562-9. 2009..Hence, we tested SLC15A1 polymorphisms for association with IBD... - Replication of GWAS-identified systemic lupus erythematosus susceptibility genes affirms B-cell receptor pathway signalling and strengthens the role of IRF5 in disease susceptibility in a Northern European populationTiina M Järvinen
Department of Biosciences and Nutrition, Karolinska Institutet, Halsovagen 7 9, S 14183 Huddinge, Sweden
Rheumatology (Oxford) 51:87-92. 2012..In this study, we sought to replicate some of these results in Finnish SLE patients (n?=?275) and control individuals (n?=?356)... - Analysis of neuropeptide S receptor gene (NPSR1) polymorphism in rheumatoid arthritisMauro D'Amato
Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden
PLoS ONE 5:e9315. 2010..We sought to determine whether genetic variability at the NPSR1 locus influences the susceptibility and clinical manifestation of rheumatoid arthritis (RA)... - Variation in STAT4 is associated with systemic lupus erythematosus in a Finnish family cohortAnna Hellquist
Department of Biosciences and Nutrition, Karolinska Institutet, Halsovagen 7 9, S 14157 Huddinge, Sweden
Ann Rheum Dis 69:883-6. 2010.... - Identification of MAMDC1 as a candidate susceptibility gene for systemic lupus erythematosus (SLE)Anna Hellquist
Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden
PLoS ONE 4:e8037. 2009..Systemic lupus erythematosus (SLE) is a complex autoimmune disorder with multiple susceptibility genes. We have previously reported suggestive linkage to the chromosomal region 14q21-q23 in Finnish SLE families... - The asthma candidate gene NPSR1 mediates isoform specific downstream signallingChristina Orsmark Pietras
Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden
BMC Pulm Med 11:39. 2011..Our objective was to investigate downstream signalling properties of NPSR1-B and functional differences between NPSR1-A and NPSR1-B... - Potential role for the common cystic fibrosis DeltaF508 mutation in Crohn's diseaseFrancesca Bresso
Strategic Research Center IRIS, Karolinska Institutet, Stockholm, Sweden
Inflamm Bowel Dis 13:531-6. 2007..Given the important biological functions of CFTR in the intestine, we tested whether this mutation is of relevance to IBD... - Identification of a new WASP and FKBP-like (WAFL) protein in inflammatory bowel disease: a potential marker gene for ulcerative colitisIng Marie Viklund
Strategic Research Center IRIS, Karolinska Institute, Stockholm, Sweden
Int J Colorectal Dis 23:921-30. 2008..The aim of this study was to investigate gene expression patterns in UC and characterize newly identified marker genes potentially linked to disease pathogenesis of UC... - Malassezia sympodialis stimulation differently affects gene expression in dendritic cells from atopic dermatitis patients and healthy individualsSusanne Gabrielsson
Department of Medicine, Unit of Clinical Allergy Research, Karolinska Institutet and Hospital, Stockholm, Sweden
Acta Derm Venereol 84:339-45. 2004..Our findings might reflect an increased trafficking and stimulatory capacity in MDDCs from the patients, which is likely to result in a stronger inflammatory response to M. sympodialis... - Evidence for genetic association and interaction between the TYK2 and IRF5 genes in systemic lupus erythematosusAnna Hellquist
Department of Biosciences and Nutrition, Karolinska Institutet, Sweden
J Rheumatol 36:1631-8. 2009..The proposed genes include members of the type I interferon (IFN) pathway and genes involved in immunological defense functions. Our aim was to systematically replicate 6 such genes, TYK2, IRF5, CTLA4, PDCD1, FCGR2A, and NOD2... - Solute carriers (SLC) in inflammatory bowel disease: a potential target of probiotics?Maria Kotka
Department of Microbiology Tumor and Cell Biology, Karolinska Institutet, Stockholm, Sweden
J Clin Gastroenterol 42:S133-5. 2008..The elucidation of SLC4A11 function in the intestine will be the key to fully evaluate the relevance of specific findings... - Loss-of-function variants of the filaggrin gene are associated with atopic eczema and associated phenotypes in Swedish familiesElisabeth Ekelund
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
Acta Derm Venereol 88:15-9. 2008..Our results support an important role for the filaggrin gene variants R501X and 2282del4 in the development and severity of atopic eczema and indicate a possible role for the subsequent progression into eczema-associated phenotypes... - Functional interaction of CARD15/NOD2 and Crohn's disease-associated TNFalpha polymorphismsYlva Linderson
Microbiology and Tumor Biology Center, Karolinska Institute, Nobels vag 16, 17177, Stockholm, Sweden
Int J Colorectal Dis 20:305-11. 2005..We sought to determine whether CARD15-mediated NF-kappaB activation can contribute to MDP-induced TNFalpha production and, consequently, if polymorphisms in both genes affect the control of such induction... - Multiple polymorphisms affect expression and function of the neuropeptide S receptor (NPSR1)Francesca Anedda
Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden
PLoS ONE 6:e29523. 2011..02)... - A genome-wide association scan on estrogen receptor-negative breast cancerJingmei Li
Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden
Breast Cancer Res 12:R93. 2010..ER status of breast cancer is important clinically, and is used both as a prognostic indicator and treatment predictor. In this study, we focused on identifying genetic markers associated with ER-negative breast cancer risk... - Polygenic risk score improves prostate cancer risk prediction: results from the Stockholm-1 cohort studyMarkus Aly
Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden
Eur Urol 60:21-8. 2011..The low specificity of prostate-specific antigen (PSA) results in diagnostic biopsies in men without prostate cancer (PCa). Additional information, such as genetic markers, could be used to avoid unnecessary biopsies... - Semliki Forest virus nonstructural protein 2 is involved in suppression of the type I interferon responseLucy Breakwell
Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, S 171 77 Stockholm, Sweden
J Virol 81:8677-84. 2007..These results provide novel information about the mode of action of this viral IFN antagonist...