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13 results on '"Perminow, Gori"'

4. Identification and validation of a blood- based diagnostic lipidomic signature of pediatric inflammatory bowel disease

Author

Salihovic, Samira, Nyström, Niklas, Mathisen, Charlotte Bache-Wiig, Kruse, Robert, Olbjorn, Christine, Andersen, Svend, Noble, Alexandra J., Dorn-Rasmussen, Maria, Bazov, Igor, Perminow, Gori, Opheim, Randi, Detlie, Trond Espen, Huppertz-Hauss, Gert, Hedin, Charlotte R. H., Carlson, Marie, Ohman, Lena, Magnusson, Maria K., Keita, Asa V., Soderholm, Johan D., D'Amato, Mauro, Oresic, Matej, Wewer, Vibeke, Satsangi, Jack, Lindqvist, Carl Marten, Burisch, Johan, Uhlig, Holm H., Repsilber, Dirk, Hyotylainen, Tuulia, Hoivik, Marte Lie, Halfvarson, Jonas, Salihovic, Samira, Nyström, Niklas, Mathisen, Charlotte Bache-Wiig, Kruse, Robert, Olbjorn, Christine, Andersen, Svend, Noble, Alexandra J., Dorn-Rasmussen, Maria, Bazov, Igor, Perminow, Gori, Opheim, Randi, Detlie, Trond Espen, Huppertz-Hauss, Gert, Hedin, Charlotte R. H., Carlson, Marie, Ohman, Lena, Magnusson, Maria K., Keita, Asa V., Soderholm, Johan D., D'Amato, Mauro, Oresic, Matej, Wewer, Vibeke, Satsangi, Jack, Lindqvist, Carl Marten, Burisch, Johan, Uhlig, Holm H., Repsilber, Dirk, Hyotylainen, Tuulia, Hoivik, Marte Lie, and Halfvarson, Jonas

Abstract

Improved biomarkers are needed for pediatric inflammatory bowel disease. Here we identify a diagnostic lipidomic signature for pediatric inflammatory bowel disease by analyzing blood samples from a discovery cohort of incident treatment-na & iuml;ve pediatric patients and validating findings in an independent inception cohort. The lipidomic signature comprising of only lactosyl ceramide (d18:1/16:0) and phosphatidylcholine (18:0p/22:6) improves the diagnostic prediction compared with high-sensitivity C-reactive protein. Adding high-sensitivity C-reactive protein to the signature does not improve its performance. In patients providing a stool sample, the diagnostic performance of the lipidomic signature and fecal calprotectin, a marker of gastrointestinal inflammation, does not substantially differ. Upon investigation in a third pediatric cohort, the findings of increased lactosyl ceramide (d18:1/16:0) and decreased phosphatidylcholine (18:0p/22:6) absolute concentrations are confirmed. Translation of the lipidomic signature into a scalable diagnostic blood test for pediatric inflammatory bowel disease has the potential to support clinical decision making. Diagnostic blood-based biomarkers of pediatric IBD are limited. Here, the authors demonstrate a diagnostic lipidomic signature, comprising only of two molecular lipids. Translation of this signature into a scalable test has the potential to support clinical decision making.

Published
2024
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5. Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

Author

Milner, Joshua D., Vogel, Tiphanie P., Forbes, Lisa, Ma, Chi A., Stray-Pedersen, Asbjørg, Niemela, Julie E., Lyons, Jonathan J., Engelhardt, Karin R., Zhang, Yu, Topcagic, Nermina, Roberson, Elisha D.O., Matthews, Helen, Verbsky, James W., Dasu, Trivikram, Vargas-Hernandez, Alexander, Varghese, Nidhy, McClain, Kenneth L., Karam, Lina B., Nahmod, Karen, Makedonas, George, Mace, Emily M., Sorte, Hanne S., Perminow, Gøri, Rao, V. Koneti, O’Connell, Michael P., Price, Susan, Su, Helen C., Butrick, Morgan, McElwee, Joshua, Hughes, Jason D., Willet, Joseph, Swan, David, Xu, Yaobo, Santibanez-Koref, Mauro, Slowik, Voytek, Dinwiddie, Darrell L., Ciaccio, Christina E., Saunders, Carol J., Septer, Seth, Kingsmore, Stephen F., White, Andrew J., Cant, Andrew J., Hambleton, Sophie, and Cooper, Megan A.

Published
2015
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9. TCF-1-mediated Wnt signaling regulates Paneth cell innate immune defense effectors HD-5 and -6: implications for Crohn's disease

Author

Beisner, Julia, primary, Teltschik, Zora, additional, Ostaff, Maureen J., additional, Tiemessen, Machteld M., additional, Staal, Frank J. T., additional, Wang, Guoxing, additional, Gersemann, Michael, additional, Perminow, Gori, additional, Vatn, Morten H., additional, Schwab, Matthias, additional, Stange, Eduard F., additional, and Wehkamp, Jan, additional

Published
2014
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13. TCF-1-mediated Wnt signaling regulates Paneth cell innate immune defense effectors HD-5 and -6: implications for Crohn's disease.

Author

Beisner J, Teltschik Z, Ostaff MJ, Tiemessen MM, Staal FJ, Wang G, Gersemann M, Perminow G, Vatn MH, Schwab M, Stange EF, and Wehkamp J

Subjects
Adolescent, Animals, Binding Sites, Caco-2 Cells, Female, HEK293 Cells, Humans, Ileum metabolism, Ileum pathology, Jejunum metabolism, Jejunum pathology, Male, Mice, Mice, Inbred C57BL, Organ Specificity, Protein Precursors genetics, Protein Precursors metabolism, RNA, Messenger genetics, RNA, Messenger metabolism, T Cell Transcription Factor 1 chemistry, T Cell Transcription Factor 1 genetics, alpha-Defensins genetics, beta Catenin genetics, beta Catenin metabolism, Crohn Disease metabolism, Paneth Cells metabolism, T Cell Transcription Factor 1 metabolism, Wnt Signaling Pathway, alpha-Defensins metabolism
Abstract

Wnt signaling regulates small intestinal stem cell maintenance and Paneth cell differentiation. In patients with ileal Crohn's disease (CD), a decrease of Paneth cell α-defensins has been observed that is partially caused by impaired TCF-4 and LRP6 function. Here we show reduced expression of the Wnt signaling effector TCF-1 (also known as TCF-7) in patients with ileal CD. Reporter gene assays and in vitro promoter binding analysis revealed that TCF-1 activates α-defensin HD-5 and HD-6 transcription in cooperation with β-catenin and that activation is mediated by three distinct TCF binding sites. EMSA analysis showed binding of TCF-1 to the respective motifs. In ileal CD patients, TCF-1 mRNA expression levels were significantly reduced. Moreover, we found specifically reduced expression of active TCF-1 mRNA isoforms. Tcf-1 knockout mice exhibited reduced cryptdin expression in the jejunum, which was not consistently seen at other small intestinal locations. Our data provide evidence that TCF-1-mediated Wnt signaling is disturbed in small intestinal CD, which might contribute to the observed barrier dysfunction in the disease., (Copyright © 2014 the American Physiological Society.)

Published
2014
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