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174 results on '"Schreiber, Stefan"'

1. Dynamic changes in extracellular vesicle-associated miRNAs elicited by ultrasound in inflammatory bowel disease patients

Author

Tran, Florian, primary, Scharmacher, Alena, additional, Baran, Nathan, additional, Mishra, Neha, additional, Wozny, Marek, additional, Chavez, Samuel Pineda, additional, Bhardwaj, Archana, additional, Hinz, Sophia, additional, Juzenas, Simonas, additional, Bernardes, Joana P., additional, Sievers, Laura Katharina, additional, Lessing, Matthias, additional, Aden, Konrad, additional, Lassen, Arne, additional, Bergfeld, Arne, additional, Weber, Hauke Jann, additional, Neas, Lennart, additional, Vetrano, Stefania, additional, Schreiber, Stefan, additional, and Rosenstiel, Philip, additional

Published
2024
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2. FixNCut: single-cell genomics through reversible tissue fixation and dissociation

Author

Jiménez-Gracia, Laura, primary, Marchese, Domenica, additional, Nieto, Juan C., additional, Caratù, Ginevra, additional, Melón-Ardanaz, Elisa, additional, Gudiño, Victoria, additional, Roth, Sara, additional, Wise, Kellie, additional, Ryan, Natalie K., additional, Jensen, Kirk B., additional, Hernando-Momblona, Xavier, additional, Bernardes, Joana P., additional, Tran, Florian, additional, Sievers, Laura Katharina, additional, Schreiber, Stefan, additional, van den Berge, Maarten, additional, Kole, Tessa, additional, van der Velde, Petra L., additional, Nawijn, Martijn C., additional, Rosenstiel, Philip, additional, Batlle, Eduard, additional, Butler, Lisa M., additional, Parish, Ian A., additional, Plummer, Jasmine, additional, Gut, Ivo, additional, Salas, Azucena, additional, Heyn, Holger, additional, and Martelotto, Luciano G., additional

Published
2024
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3. Epidemiological data and medical care situation of patients with chronic inflammatory diseases in Germany

Author

Riemekasten, Gabriela, primary, Schmelz, Renate, additional, Schäkel, Knut, additional, Thaci, Diamant, additional, Schreiber, Stefan, additional, Röcken, Marit, additional, Bartz, Holger, additional, Ploner, Tina, additional, Liao, Ximing, additional, Weber, Valeria, additional, Manz, Karina C., additional, Burkhardt, Harald, additional, and Leipe, Jan, additional

Published
2023
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4. Amino acid auxotrophies in human gut bacteria are linked to higher microbiome diversity and long-term stability

Author

Starke, Svenja, primary, Harris, Danielle M. M., additional, Zimmermann, Johannes, additional, Schuchardt, Sven, additional, Oumari, Mhmd, additional, Frank, Derk, additional, Bang, Corinna, additional, Rosenstiel, Philip, additional, Schreiber, Stefan, additional, Frey, Norbert, additional, Franke, Andre, additional, Aden, Konrad, additional, and Waschina, Silvio, additional

Published
2023
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6. Selection of cross-reactive T cells by commensal and food-derived yeasts drives cytotoxic TH1 cell responses in Crohn’s disease

Author

Martini, Gabriela Rios, primary, Tikhonova, Ekaterina, additional, Rosati, Elisa, additional, DeCelie, Meghan Bialt, additional, Sievers, Laura Katharina, additional, Tran, Florian, additional, Lessing, Matthias, additional, Bergfeld, Arne, additional, Hinz, Sophia, additional, Nikolaus, Susanna, additional, Kümpers, Julia, additional, Matysiak, Anna, additional, Hofmann, Philipp, additional, Saggau, Carina, additional, Schneiders, Stephan, additional, Kamps, Ann-Kristin, additional, Jacobs, Gunnar, additional, Lieb, Wolfgang, additional, Maul, Jochen, additional, Siegmund, Britta, additional, Seegers, Barbara, additional, Hinrichsen, Holger, additional, Oberg, Hans-Heinrich, additional, Wesch, Daniela, additional, Bereswill, Stefan, additional, Heimesaat, Markus M., additional, Rupp, Jan, additional, Kniemeyer, Olaf, additional, Brakhage, Axel A., additional, Brunke, Sascha, additional, Hube, Bernhard, additional, Aden, Konrad, additional, Franke, Andre, additional, Iliev, Iliyan D., additional, Scheffold, Alexander, additional, Schreiber, Stefan, additional, and Bacher, Petra, additional

Published
2023
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9. NF-κB/RelA controlled A20 limits TRAIL-induced apoptosis in pancreatic cancer

Author

Geismann, Claudia, primary, Hauser, Charlotte, additional, Grohmann, Frauke, additional, Schneeweis, Christian, additional, Bölter, Nico, additional, Gundlach, Jan-Paul, additional, Schneider, Günter, additional, Röcken, Christoph, additional, Meinhardt, Christian, additional, Schäfer, Heiner, additional, Schreiber, Stefan, additional, and Arlt, Alexander, additional

Published
2023
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10. Longitudinal multi-omics analysis identifies early blood-based predictors of anti-TNF therapy response in inflammatory bowel disease

Author

Mishra, Neha, Aden, Konrad, Blase, Johanna I, Baran, Nathan, Bordoni, Dora, Tran, Florian, Conrad, Claudio, Avalos, Diana, Jaeckel, Charlot, Scherer, Michael, Sørensen, Signe B, Overgaard, Silja H, Schulte, Berenice, Nikolaus, Susanna, Rey, Guillaume, Gasparoni, Gilles, Lyons, Paul A, Schultze, Joachim L, Walter, Jörn, Andersen, Vibeke, SYSCID Consortium, Dermitzakis, Emmanouil T, Schreiber, Stefan, Rosenstiel, Philip, Rosenstiel, Philip [0000-0002-9692-8828], and Apollo - University of Cambridge Repository

Subjects
Tumor Necrosis Factor-alpha, Research, Intestinal inflammation, Therapy response, Biomarker, Biologics, Inflammatory Bowel Diseases, Personalized medicine, Infliximab, Humans, RNA, Tumor Necrosis Factor Inhibitors, Interferons, Prospective Studies, Biomarkers
Abstract

Funder: Universitätsklinikum Schleswig-Holstein - Campus Kiel (6509), BACKGROUND AND AIMS: Treatment with tumor necrosis factor α (TNFα) antagonists in IBD patients suffers from primary non-response rates of up to 40%. Biomarkers for early prediction of therapy success are missing. We investigated the dynamics of gene expression and DNA methylation in blood samples of IBD patients treated with the TNF antagonist infliximab and analyzed the predictive potential regarding therapy outcome. METHODS: We performed a longitudinal, blood-based multi-omics study in two prospective IBD patient cohorts receiving first-time infliximab therapy (discovery: 14 patients, replication: 23 patients). Samples were collected at up to 7 time points (from baseline to 14 weeks after therapy induction). RNA-sequencing and genome-wide DNA methylation data were analyzed and correlated with clinical remission at week 14 as a primary endpoint. RESULTS: We found no consistent ex ante predictive signature across the two cohorts. Longitudinally upregulated transcripts in the non-remitter group comprised TH2- and eosinophil-related genes including ALOX15, FCER1A, and OLIG2. Network construction identified transcript modules that were coherently expressed at baseline and in non-remitting patients but were disrupted at early time points in remitting patients. These modules reflected processes such as interferon signaling, erythropoiesis, and platelet aggregation. DNA methylation analysis identified remission-specific temporal changes, which partially overlapped with transcriptomic signals. Machine learning approaches identified features from differentially expressed genes cis-linked to DNA methylation changes at week 2 as a robust predictor of therapy outcome at week 14, which was validated in a publicly available dataset of 20 infliximab-treated CD patients. CONCLUSIONS: Integrative multi-omics analysis reveals early shifts of gene expression and DNA methylation as predictors for efficient response to anti-TNF treatment. Lack of such signatures might be used to identify patients with IBD unlikely to benefit from TNF antagonists at an early time point.

Published
2022

11. DNA methyltransferase 3A controls intestinal epithelial barrier function and regeneration in the colon

Author

Fazio, Antonella, primary, Bordoni, Dora, additional, Kuiper, Jan W. P., additional, Weber-Stiehl, Saskia, additional, Stengel, Stephanie T., additional, Arnold, Philipp, additional, Ellinghaus, David, additional, Ito, Go, additional, Tran, Florian, additional, Messner, Berith, additional, Henning, Anna, additional, Bernardes, Joana P., additional, Häsler, Robert, additional, Luzius, Anne, additional, Imm, Simon, additional, Hinrichsen, Finn, additional, Franke, Andre, additional, Huber, Samuel, additional, Nikolaus, Susanna, additional, Aden, Konrad, additional, Schreiber, Stefan, additional, Sommer, Felix, additional, Natoli, Gioacchino, additional, Mishra, Neha, additional, and Rosenstiel, Philip, additional

Published
2022
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12. Cohort profile: the Food Chain Plus (FoCus) cohort

Author

Geisler, Corinna, primary, Schlicht, Kristina, additional, Knappe, Carina, additional, Rohmann, Nathalie, additional, Hartmann, Katharina, additional, Türk, Kathrin, additional, Settgast, Ute, additional, Schulte, Dominik M., additional, Demetrowitsch, Tobias, additional, Jensen-Kroll, Julia, additional, Pisarevskaja, Alina, additional, Brix, Fynn, additional, Gruber, Bärbel, additional, Rimbach, Gerald, additional, Döring, Frank, additional, Rosenstiel, Philip, additional, Franke, Andre, additional, Schreiber, Stefan, additional, Henning, Christian H. C. A., additional, Lieb, Wolfgang, additional, Nöthlings, Ute, additional, Schwarz, Karin, additional, and Laudes, Matthias, additional

Published
2022
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14. Correction to: Perspectives on Subcutaneous Infliximab for Rheumatic Diseases and Inflammatory Bowel Disease: Before, During, and After the COVID-19 Era

Author

Schreiber, Stefan, primary, Ben-Horin, Shomron, additional, Alten, Rieke, additional, Westhovens, René, additional, Peyrin-Biroulet, Laurent, additional, Danese, Silvio, additional, Hibi, Toshifumi, additional, Takeuchi, Ken, additional, Magro, Fernando, additional, An, Yoorim, additional, Kim, Dong-Hyeon, additional, Yoon, SangWook, additional, and Reinisch, Walter, additional

Published
2022
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15. Autoantibodies targeting GPCRs and RAS-related molecules associate with COVID-19 severity

Author

Cabral-Marques, Otavio, primary, Halpert, Gilad, additional, Schimke, Lena F., additional, Ostrinski, Yuri, additional, Vojdani, Aristo, additional, Baiocchi, Gabriela Crispim, additional, Freire, Paula Paccielli, additional, Filgueiras, Igor Salerno, additional, Zyskind, Israel, additional, Lattin, Miriam T., additional, Tran, Florian, additional, Schreiber, Stefan, additional, Marques, Alexandre H. C., additional, Plaça, Desirée Rodrigues, additional, Fonseca, Dennyson Leandro M., additional, Humrich, Jens Y., additional, Müller, Antje, additional, Giil, Lasse M., additional, Graßhoff, Hanna, additional, Schumann, Anja, additional, Hackel, Alexander, additional, Junker, Juliane, additional, Meyer, Carlotta, additional, Ochs, Hans D., additional, Lavi, Yael Bublil, additional, Scheibenbogen, Carmen, additional, Dechend, Ralf, additional, Jurisica, Igor, additional, Schulze-Forster, Kai, additional, Silverberg, Jonathan I., additional, Amital, Howard, additional, Zimmerman, Jason, additional, Heidecke, Harry, additional, Rosenberg, Avi Z., additional, Riemekasten, Gabriela, additional, and Shoenfeld, Yehuda, additional

Published
2022
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16. Cross-tissue transcriptome-wide association studies identify susceptibility genes shared between schizophrenia and inflammatory bowel disease

Author

Uellendahl-Werth, Florian, primary, Maj, Carlo, additional, Borisov, Oleg, additional, Juzenas, Simonas, additional, Wacker, Eike Matthias, additional, Jørgensen, Isabella Friis, additional, Steiert, Tim Alexander, additional, Bej, Saptarshi, additional, Krawitz, Peter, additional, Hoffmann, Per, additional, Schramm, Christoph, additional, Wolkenhauer, Olaf, additional, Banasik, Karina, additional, Brunak, Søren, additional, Schreiber, Stefan, additional, Karlsen, Tom Hemming, additional, Degenhardt, Franziska, additional, Nöthen, Markus, additional, Franke, Andre, additional, Folseraas, Trine, additional, and Ellinghaus, David, additional

Published
2022
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17. Perspectives on Subcutaneous Infliximab for Rheumatic Diseases and Inflammatory Bowel Disease: Before, During, and After the COVID-19 Era

Author

Schreiber, Stefan, primary, Ben-Horin, Shomron, additional, Alten, Rieke, additional, Westhovens, René, additional, Peyrin-Biroulet, Laurent, additional, Danese, Silvio, additional, Hibi, Toshifumi, additional, Takeuchi, Ken, additional, Magro, Fernando, additional, An, Yoorim, additional, Kim, Dong-Hyeon, additional, Yoon, SangWook, additional, and Reinisch, Walter, additional

Published
2022
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18. Correction: Circulating levels of soluble Dipeptidylpeptidase-4 are reduced in human subjects hospitalized for severe COVID-19 infections

Author

Schlicht, Kristina, primary, Rohmann, Nathalie, additional, Geisler, Corinna, additional, Hollstein, Tim, additional, Knappe, Carina, additional, Hartmann, Katharina, additional, Schwarz, Jeanette, additional, Tran, Florian, additional, Schunk, Domagoj, additional, Junker, Ralf, additional, Bahmer, Thomas, additional, Rosenstiel, Philip, additional, Schulte, Dominik, additional, Türk, Kathrin, additional, Franke, Andre, additional, Schreiber, Stefan, additional, and Laudes, Matthias, additional

Published
2021
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19. Effect of various weight loss interventions on serum NT-proBNP concentration in severe obese subjects without clinical manifest heart failure

Author

Hollstein, Tim, primary, Schlicht, Kristina, additional, Krause, Laura, additional, Hagen, Stefanie, additional, Rohmann, Nathalie, additional, Schulte, Dominik M., additional, Türk, Kathrin, additional, Beckmann, Alexia, additional, Ahrens, Markus, additional, Franke, Andre, additional, Schreiber, Stefan, additional, Becker, Thomas, additional, Beckmann, Jan, additional, and Laudes, Matthias, additional

Published
2021
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21. Analysis of single nucleotide polymorphisms in chronic beryllium disease

Author

Frye, Björn C., primary, Gaede, Karoline I., additional, Saltini, Cesare, additional, Rossman, Milton D., additional, Monos, Dimitri S., additional, Rosenman, Ken D., additional, Schuler, Christine R., additional, Weston, Ainsley, additional, Wegner, Ralf, additional, Noth, Rainer, additional, Zissel, Gernot, additional, Schreiber, Stefan, additional, Nothnagel, Michael, additional, and Müller-Quernheim, Joachim, additional

Published
2021
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22. A genome-wide cross-phenotype meta-analysis of the association of blood pressure with migraine

Author

Guo, Yanjun, Rist, Pamela M., Daghlas, Iyas, Giulianini, Franco, Gormley, Padhraig, Anttila, Verneri, Winsvold, Bendik S., Palta, Priit, Esko, Tonu, Pers, Tune H., Farh, Kai How, Cuenca-Leon, Ester, Muona, Mikko, Furlotte, Nicholas A., Kurth, Tobias, Ingason, Andres, McMahon, George, Ligthart, Lannie, Terwindt, Gisela M., Kallela, Mikko, Freilinger, Tobias M., Ran, Caroline, Gordon, Scott G., Stam, Anine H., Steinberg, Stacy, Borck, Guntram, Koiranen, Markku, Quaye, Lydia, Adams, Hieab H.H., Lehtimäki, Terho, Sarin, Antti Pekka, Wedenoja, Juho, Hinds, David A., Buring, Julie E., Schürks, Markus, Ridker, Paul M., Hrafnsdottir, Maria Gudlaug, Stefansson, Hreinn, Ring, Susan M., Hottenga, Jouke Jan, Penninx, Brenda W.J.H., Färkkilä, Markus, Artto, Ville, Kaunisto, Mari, Vepsäläinen, Salli, Malik, Rainer, Heath, Andrew C., Madden, Pamela A.F., Martin, Nicholas G., Montgomery, Grant W., Kurki, Mitja, Kals, Mart, Mägi, Reedik, Pärn, Kalle, Hämäläinen, Eija, Huang, Hailiang, Byrnes, Andrea E., Franke, Lude, Huang, Jie, Stergiakouli, Evie, Lee, Phil H., Sandor, Cynthia, Webber, Caleb, Cader, Zameel, Muller-Myhsok, Bertram, Schreiber, Stefan, Meitinger, Thomas, Eriksson, Johan G., Salomaa, Veikko, Heikkilä, Kauko, Loehrer, Elizabeth, Uitterlinden, Andre G., Hofman, Albert, Duijn, Cornelia M.van, Cherkas, Lynn, Pedersen, Linda M., Stubhaug, Audun, Nielsen, Christopher S., Männikkö, Minna, Mihailov, Evelin, Milani, Lili, Göbel, Hartmut, Esserlind, Ann Louise, Christensen, Anne Francke, Hansen, Thomas Folkmann, Werge, Thomas, Kaprio, Jaakko, Aromaa, Arpo J., Raitakari, Olli, Ikram, M. Arfan, Spector, Tim, Järvelin, Marjo Riitta, Metspalu, Andres, Kubisch, Christian, Strachan, David P., Ferrari, Michel D., Belin, Andrea C., Dichgans, Martin, Wessman, Maija, Maagdenberg, Arn M.J.M.van den, Zwart, John Anker, Boomsma, Dorret I., Smith, George Davey, Stefansson, Kari, Eriksson, Nicholas, Daly, Mark J., Neale, Benjamin M., Olesen, Jes, Chasman, Daniel I., Nyholt, Dale R., Palotie, Aarno, Agee, Michelle, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McCreight, Jennifer C., McIntyre, Matthew H., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A.M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Læknadeild (HÍ), Faculty of Medicine (UI), Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands, University of Iceland, APH - Mental Health, Amsterdam Neuroscience - Complex Trait Genetics, Psychiatry, APH - Digital Health, Radiology & Nuclear Medicine, Epidemiology, Neurology, Internal Medicine, Biological Psychology, APH - Personalized Medicine, APH - Health Behaviors & Chronic Diseases, APH - Methodology, Clinicum, Neurologian yksikkö, HUS Neurocenter, HUS Helsinki and Uusimaa Hospital District, Department of Neurosciences, Research Programs Unit, Institute for Molecular Medicine Finland, Neuroscience Center, STEMM - Stem Cells and Metabolism Research Program, Genomics of Neurological and Neuropsychiatric Disorders, Department of Public Health, Biosciences, Centre of Excellence in Complex Disease Genetics, Research Programme of Molecular Medicine, Aarno Palotie / Principal Investigator, Helsinki University Hospital Area, University of Helsinki, Johan Eriksson / Principal Investigator, and Department of General Practice and Primary Health Care

Subjects
0301 basic medicine, Netherlands Twin Register (NTR), Integrin beta Chains, LOCI, Medizin, General Physics and Astronomy, Blood Pressure, Genome-wide association study, Genome-wide association studies, DISEASE, 3124 Neurology and psychiatry, 0302 clinical medicine, HEADACHE, Risk Factors, Polymorphism (computer science), Genome-wide, lcsh:Science, Telomerase, Multidisciplinary, Mendelian Randomization Analysis, Blóðþrýstingur, 3. Good health, Pulse pressure, Mígreni, Hypertension, Blood pressure, Cross-phenotype, Erfðarannsóknir, medicine.medical_specialty, Migraine Disorders, Science, Diastole, Polymorphism, Single Nucleotide, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Meta-Analysis as Topic, SDG 3 - Good Health and Well-being, Receptors, Adrenergic, alpha-2, Internal medicine, Mendelian randomization, medicine, Humans, Genetic Predisposition to Disease, Migraine, business.industry, Proteins, General Chemistry, medicine.disease, Meta-analysis, 030104 developmental biology, Endocrinology, RISK-FACTORS, lcsh:Q, business, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

Publisher's version (útgefin grein), Blood pressure (BP) was inconsistently associated with migraine and the mechanisms of BP-lowering medications in migraine prophylaxis are unknown. Leveraging large-scale summary statistics for migraine (Ncases/Ncontrols = 59,674/316,078) and BP (N = 757,601), we find positive genetic correlations of migraine with diastolic BP (DBP, rg = 0.11, P = 3.56 × 10−06) and systolic BP (SBP, rg = 0.06, P = 0.01), but not pulse pressure (PP, rg = −0.01, P = 0.75). Cross-trait meta-analysis reveals 14 shared loci (P ≤ 5 × 10−08), nine of which replicate (P, This research has been conducted using the UK Biobank Resource under Application Number 29273. We would like to thank the participants and researchers from the UK Biobank, 23andMe, Inc., International Headache Genetics Consortium (IHGC), MEGASTROKE, CARDIoGRAM, and International Consortium of Blood Pressure-Genome Wide Association Studies (ICBP) who contributed or collected data. Daniel I. Chasman is funded by US National Institutes of Health and US National Institute of Neurological Disorders and Stroke (R21NS09296 and R21NS104398). Pamela M. Rist is funded by K01 HL128791. The MEGASTROKE project received funding from sources specified at http://www.megastroke.org/acknowledgments.html.

Published
2020

23. Genome-wide study of a Neolithic Wartberg grave community reveals distinct HLA variation and hunter-gatherer ancestry

Author

Immel, Alexander, primary, Pierini, Federica, additional, Rinne, Christoph, additional, Meadows, John, additional, Barquera, Rodrigo, additional, Szolek, András, additional, Susat, Julian, additional, Böhme, Lisa, additional, Dose, Janina, additional, Bonczarowska, Joanna, additional, Drummer, Clara, additional, Fuchs, Katharina, additional, Ellinghaus, David, additional, Kässens, Jan Christian, additional, Furholt, Martin, additional, Kohlbacher, Oliver, additional, Schade-Lindig, Sabine, additional, Franke, Andre, additional, Schreiber, Stefan, additional, Krause, Johannes, additional, Müller, Johannes, additional, Lenz, Tobias L., additional, Nebel, Almut, additional, and Krause-Kyora, Ben, additional

Published
2021
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24. Circulating levels of soluble Dipeptidylpeptidase-4 are reduced in human subjects hospitalized for severe COVID-19 infections

Author

Schlicht, Kristina, primary, Rohmann, Nathalie, additional, Geisler, Corinna, additional, Hollstein, Tim, additional, Knappe, Carina, additional, Hartmann, Katharina, additional, Schwarz, Jeanette, additional, Tran, Florian, additional, Schunk, Domagoj, additional, Junker, Ralf, additional, Bahmer, Thomas, additional, Rosenstiel, Philip, additional, Schulte, Dominik, additional, Türk, Kathrin, additional, Franke, Andre, additional, Schreiber, Stefan, additional, and Laudes, Matthias, additional

Published
2020
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27. Correction to: The Future of Biosimilars: Maximizing Benefits Across Immune-Mediated Inflammatory Diseases

Author

Kim, HoUng, primary, Alten, Rieke, additional, Avedano, Luisa, additional, Dignass, Axel, additional, Gomollón, Fernando, additional, Greveson, Kay, additional, Halfvarson, Jonas, additional, Irving, Peter M., additional, Jahnsen, Jørgen, additional, Lakatos, Péter L., additional, Lee, JongHyuk, additional, Makri, Souzi, additional, Parker, Ben, additional, Peyrin-Biroulet, Laurent, additional, Schreiber, Stefan, additional, Simoens, Steven, additional, Westhovens, Rene, additional, Danese, Silvio, additional, and Jeong, Ji Hoon, additional

Published
2020
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28. The Future of Biosimilars: Maximizing Benefits Across Immune-Mediated Inflammatory Diseases

Author

Kim, HoUng, primary, Alten, Rieke, additional, Avedano, Luisa, additional, Dignass, Axel, additional, Gomollón, Fernando, additional, Greveson, Kay, additional, Halfvarson, Jonas, additional, Irving, Peter M., additional, Jahnsen, Jørgen, additional, Lakatos, Péter L., additional, Lee, JongHyuk, additional, Makri, Souzi, additional, Parker, Ben, additional, Peyrin-Biroulet, Laurent, additional, Schreiber, Stefan, additional, Simoens, Steven, additional, Westhovens, Rene, additional, Danese, Silvio, additional, and Jeong, Ji Hoon, additional

Published
2020
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30. Prdx4 limits caspase‐1 activation and restricts inflammasome‐mediated signaling by extracellular vesicles

Author

Lipinski, Simone, primary, Pfeuffer, Steffen, additional, Arnold, Philipp, additional, Treitz, Christian, additional, Aden, Konrad, additional, Ebsen, Henriette, additional, Falk‐Paulsen, Maren, additional, Gisch, Nicolas, additional, Fazio, Antonella, additional, Kuiper, Jan, additional, Luzius, Anne, additional, Billmann‐Born, Susanne, additional, Schreiber, Stefan, additional, Nuñez, Gabriel, additional, Beer, Hans‐Dietmar, additional, Strowig, Till, additional, Lamkanfi, Mohamed, additional, Tholey, Andreas, additional, and Rosenstiel, Philip, additional

Published
2019
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32. Linking pre-existing biorepositories for medical research: the PopGen 2.0 Network

Author

Lieb, Wolfgang, primary, Jacobs, Gunnar, additional, Wolf, Andreas, additional, Richter, Gesine, additional, Gaede, Karoline I., additional, Schwarz, Jeanette, additional, Arnold, Norbert, additional, Böhm, Ruwen, additional, Buyx, Alena, additional, Cascorbi, Ingolf, additional, Franke, Andre, additional, Glinicke, Christine, additional, Held-Feindt, Janka, additional, Junker, Ralf, additional, Kalthoff, Holger, additional, Kramer, Hans-Heiner, additional, Leypoldt, Frank, additional, Maass, Nicolai, additional, Maetzler, Walter, additional, May, Sandra, additional, Mehdorn, H. Maximilian, additional, Röcken, Christoph, additional, Schafmayer, Clemens, additional, Schrappe, Martin, additional, Schreiber, Stefan, additional, Sebens, Susanne, additional, Stephani, Ulrich, additional, Synowitz, Michael, additional, Weimer, Jörg, additional, Zabel, Peter, additional, Nöthlings, Ute, additional, Röder, Christian, additional, and Krawczak, Michael, additional

Published
2019
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36. High-density mapping of the MHC identifies a shared role for HLA-DRB1*01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis

Author

Goyette, Philippe, Boucher, Gabrielle, Mallon, Dermot, Ellinghaus, Eva, Jostins, Luke, Huang, Hailiang, Ripke, Stephan, Gusareva, Elena S., Annese, Vito, Hauser, Stephen L., Oksenberg, Jorge R., Thomsen, Ingo, Leslie, Stephen, Daly, Mark J., Van Steen, Kristel, Duerr, Richard H., Barrett, Jeffrey C., Mcgovern, Dermot P. B., Schumm, L. Philip, Traherne, James A., Carrington, Mary N., Kosmoliaptsis, Vasilis, Karlsen, Tom H., Franke, Andre, Rioux, John D., Abraham, Clara, Achkar, Jean Paul, Ahmad, Tariq, Amininejad, Leila, Ananthakrishnan, Ashwin N., Andersen, Vibeke, Anderson, Carl A., Andrews, Jane M., Aumais, Guy, Baidoo, Leonard, Baldassano, Robert N., Balschun, Tobias, Bampton, Peter A., Barclay, Murray, Bayless, Theodore M., Bethge, Johannes, Bis, Joshua C., Bitton, Alain, Brand, Stephan, Brant, Steven R., Buning, Carsten, Chew, Angela, Cho, Judy H., Cleynen, Isabelle, Cohain, Ariella, Croft, Anthony, D'Amato, Mauro, Danese, Silvio, De Jong, Dirk, De Vos, Martine, Denapiene, Goda, Denson, Lee A., Devaney, Kathy L., Dewit, Olivier, D'Inca, Renata, Dubinsky, Marla, Edwards, Cathryn, Ellinghaus, David, Essers, Jonah, Ferguson, Lynnette R., Festen, Eleonora A., Fleshner, Philip, Florin, Tim, Franchimont, Denis, Fransen, Karin, Gearry, Richard, Georges, Michel, Gieger, Christian, Glas, Jurgen, Green, Todd, Griffiths, Anne M., Guthery, Stephen L., Hakonarson, Hakon, Halfvarson, Jonas, Hanigan, Katherine, Haritunians, Talin, Hart, Ailsa, Hawkey, Chris, Hayward, Nicholas K., Hedl, Matija, Henderson, Paul, Xinli, Hu, Hui, Ken Y., Imielinski, Marcin, Ippoliti, Andrew, Jonaitis, Laimas, Kennedy, Nicholas A., Khan, Mohammed Azam, Kiudelis, Gediminas, Kugathasan, Subra, Kupcinskas, Limas, Latiano, Anna, Laukens, Debby, Lawrance, Ian C., Lee, James C., Lees, Charlie W., Leja, Marcis, Van Limbergen, Johan, Lionetti, Paolo, Liu, Jimmy Z., Louis, Edouard, Mahy, Gillian, Mansfield, John, Massey, Dunecan, Mathew, Christopher G., Milgrom, Raquel, Mitrovic, Mitja, Montgomery, Grant, Mowat, Craig, Newman, Wwilliam, Aylwin, Ng, Siew C., Ng, Evelyn Ng, Sok Meng, Nikolaus, Susanna, Ning, Kaida, Nothen, Markus, Oikonomou, Ioannis, Palmieri, Orazio, Parkes, Miles, Phillips, Anne, Ponsioen, Cyriel Y., Potocnik, Uros, Prescott, Natalie J., Proctor, Deborah D., Radford Smith, Graham, Rahier, Jean Francois, Raychaudhur, Soumya, Regueiro, Miguel, Rieder, Florian, Roberts, Rebecca, Russell, Richard K., Sanderson, Jeremy D., Sans, Miquel, Satsangi, Jack, Schadt, Eric E., Schreiber, Stefan, Scott, Regan, Seielstad, Mark, Sharma, Yashoda, Silverberg, Mark S., Simms, Lisa A., Skieceviciene, Jurgita, Spain, Sarah L., Steinhart, A. Hillary, Stempak, Joanne M., Stronati, Laura, Sventoraityte, Jurgita, Targan, Stephan R., Taylor, Kirstin M., Ter Velde, Anje, Theatre, Emilie, Torkvist, Leif, Tremelling, Mark, Van Der Meulen, Andrea, Van Sommeren, Suzanne, Vasiliauskas, Eric, Vermeire, Severine, Verspaget, Hein W., Walters, Thomas, Wwang, Kai, Wwang, Ming Hsi, Wweersma, Rinse K., Wei, Zhi, Whiteman, David, Wijmenga, Cisca, Wilson, David C., Winkelmann, Juliane, Xavier, Ramnik J., Zeissig, Sebastian, Zhang, Bin, Zhang, Clarence K., Zhang, Hu, Zhang, Wwei, Zhao, Hongyu, Zhao, Zhen Z., Gastroenterology and Hepatology, Traherne, James [0000-0002-6003-8559], Kosmoliaptsis, Vasilis [0000-0001-7298-1387], and Apollo - University of Cambridge Repository

Subjects
Heterozygote, Genotype, Genotyping Techniques, Genetic Linkage, Ulcerative, Human leukocyte antigen, Biology, Major histocompatibility complex, Polymorphism, Single Nucleotide, Article, Primary sclerosing cholangitis, Major Histocompatibility Complex, Alleles, Chromosome Mapping, Colitis, Ulcerative, Crohn Disease, Genetic Predisposition to Disease, Genome-Wide Association Study, HLA-DRB1 Chains, Humans, Inflammatory Bowel Diseases, Phenotype, Genetics, medicine, HLA-DR, Polymorphism, Colitis, HLA-DRB1, Crohn's disease, Single Nucleotide, medicine.disease, Ulcerative colitis, digestive system diseases, Immunology, biology.protein
Abstract

Genome-wide association studies of the related chronic inflammatory bowel diseases (IBD) known as Crohn's disease and ulcerative colitis have shown strong evidence of association to the major histocompatibility complex (MHC). This region encodes a large number of immunological candidates, including the antigen-presenting classical human leukocyte antigen (HLA) molecules. Studies in IBD have indicated that multiple independent associations exist at HLA and non-HLA genes, but they have lacked the statistical power to define the architecture of association and causal alleles. To address this, we performed high-density SNP typing of the MHC in >32,000 individuals with IBD, implicating multiple HLA alleles, with a primary role for HLA-DRB1*01:03 in both Crohn's disease and ulcerative colitis. Noteworthy differences were observed between these diseases, including a predominant role for class II HLA variants and heterozygous advantage observed in ulcerative colitis, suggesting an important role of the adaptive immune response in the colonic environment in the pathogenesis of IBD.

Published
2015

37. Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling

Author

Li, Dong, Chang, Xiao, Kim, Cecilia E., Degortes, Daniela, Forzan, Monica, Tenconi, Elena, Docampo, Elisa, Escaramís, Geòrgia, Jiménez-Murcia, Susana, Lissowska, Jolanta, Rajewski, Andrzej, Szeszenia-Dabrowska, Neonila, Slopien, Agnieszka, Li, Jin, Hauser, Joanna, Karhunen, Leila, Meulenbelt, Ingrid, Slagboom, P. Eline, Tortorella, Alfonso, Maj, Mario, Dedoussis, George, Dikeos, Dimitris, Gonidakis, Fragiskos, Tziouvas, Konstantinos, Wang, Fengxiang, Tsitsika, Artemis, Papezova, Hana, Slachtova, Lenka, Martaskova, Debora, Kennedy, James L., Levitan, Robert D., Yilmaz, Zeynep, Huemer, Julia, Koubek, Doris, Merl, Elisabeth, Snyder, James, Wagner, Gudrun, Lichtenstein, Paul, Breen, Gerome, Cohen-Woods, Sarah, Farmer, Anne, McGuffin, Peter, Cichon, Sven, Giegling, Ina, Herms, Stefan, Rujescu, Dan, Lemma, Maria, Schreiber, Stefan, Wichmann, H.-Erich, Dina, Christian, Sladek, Rob, Gambaro, Giovanni, Soranzo, Nicole, Julia, Antonio, Marsal, Sara, Rabionet, Raquel, Gaborieau, Valerie, Hou, Cuiping, Dick, Danielle M., Palotie, Aarno, Ripatti, Samuli, Widén, Elisabeth, Andreassen, Ole A., Espeseth, Thomas, Lundervold, Astri, Reinvang, Ivar, Steen, Vidar M., Le Hellard, Stephanie, Wei, Zhi, Mattingsdal, Morten, Ntalla, Ioanna, Bencko, Vladimir, Foretova, Lenka, Janout, Vladimir, Navratilova, Marie, Gallinger, Steven, Pinto, Dalila, Scherer, Stephen W., Aschauer, Harald, Guo, Yiran, Carlberg, Laura, Schosser, Alexandra, Alfredsson, Lars, Ding, Bo, Klareskog, Lars, Padyukov, Leonid, Finan, Chris, Kalsi, Gursharan, Roberts, Marion, Barrett, Jeff C., Qiu, Haijun, Estivill, Xavier, Hinney, Anke, Sullivan, Patrick F., Zeggini, Eleftheria, Bulik, Cynthia M., Brandt, Harry, Crawford, Steve, Crow, Scott, Fichter, Manfred M., Halmi, Katherine A., Mentch, Frank D., Johnson, Craig, Kaplan, Allan S., La Via, Maria C., Mitchell, James, Strober, Michael, Rotondo, Alessandro, Treasure, Janet, Woodside, D. Blake, Keel, Pamela K., Connolly, John J., Thomas, Kelly A., Klump, Kelly L., Lilenfeld, Lisa, Thornton, Laura M., Bergen, Andrew W., Berrettini, Wade, Kaye, Walter, Magistretti, Pierre, Chiavacci, Rosetta M., Cone, Roger, Li, Bingshan, Sleiman, Patrick A., Eating Disorders Working Group of the Psychiatric Genomics Consortium, Price Foundation Collaborative Group, Hakonarson, Hakon, Boraska Perica, Vesna, Franklin, Christopher S., Tian, Lifeng, Floyd, James A. B., Huckins, Laura M., Southam, Lorraine, Rayner, N. William, Tachmazidou, Ioanna, Schmidt, Ulrike, Tozzi, Federica, Liu, Yichuan, Kiezebrink, Kirsty, Hebebrand, Johannes, Gorwood, Philip, Adan, Roger A. H., Kas, Martien J. H., Favaro, Angela, Santonastaso, Paolo, Fernánde-Aranda, Fernando, Gratacos, Monica, Rybakowski, Filip, Bhoj, Elizabeth J., Dmitrzak-Weglarz, Monika, Kaprio, Jaakko, Keski-Rahkonen, Anna, Raevuori-Helkamaa, Anu, Van Furth, Eric F., Slof-Op't Landt, Margarita C. T., Hudson, James I., Reichborn-Kjennerud, Ted, Knudsen, Gun Peggy S., Monteleone, Palmiero, Robinson, Nora, Karwautz, Andreas, Berrettini, Wade H., Schork, Nicholas J., Ando, Tetsuya, Inoko, Hidetoshi, Esko, Tõnu, Fischer, Krista, Männik, Katrin, Metspalu, Andres, Abrams, Debra, Baker, Jessica H., DeSocio, Janiece E., Hilliard, Christopher E., O'Toole, Julie K., Pantel, Jacques, Szatkiewicz, Jin P., Zerwas, Stephanie, Davis, Oliver S. P., Helder, Sietske, Bühren, Katharina, Li, Yun R., Burghardt, Roland, de Zwaan, Martina, Egberts, Karin, Ehrlich, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Imgart, Hartmut, Scherag, André, Zipfel, Stephan, Boni, Claudette, Bradfield, Jonathan P., Ramoz, Nicolas, Versini, Audrey, Danner, Unna N., Hendriks, Judith, Koeleman, Bobby P. C., Ophoff, Roel A., Strengman, Eric, van Elburg, Annemarie A., Bruson, Alice, and Clementi, Maurizio

Subjects
050103 clinical psychology, 0303 health sciences, Multidisciplinary, 030309 nutrition & dietetics, Science, 05 social sciences, Price Foundation Collaborative Group, Article, 3. Good health, 03 medical and health sciences, Eating Disorders Working Group of the Psychiatric Genomics Consortium, Medicine, 0501 psychology and cognitive sciences
Abstract

We conducted a genome-wide association study (GWAS) of anorexia nervosa (AN) using a stringently defined phenotype. Analysis of phenotypic variability led to the identification of a specific genetic risk factor that approached genome-wide significance (rs929626 in EBF1 (Early B-Cell Factor 1); P = 2.04 × 10−7; OR = 0.7; 95% confidence interval (CI) = 0.61–0.8) with independent replication (P = 0.04), suggesting a variant-mediated dysregulation of leptin signaling may play a role in AN. Multiple SNPs in LD with the variant support the nominal association. This demonstrates that although the clinical and etiologic heterogeneity of AN is universally recognized, further careful sub-typing of cases may provide more precise genomic signals. In this study, through a refinement of the phenotype spectrum of AN, we present a replicable GWAS signal that is nominally associated with AN, highlighting a potentially important candidate locus for further investigation.

Published
2017

40. Evaluation of interleukin-6 and its soluble receptor components sIL-6R and sgp130 as markers of inflammation in inflammatory bowel diseases

Author

Nikolaus, Susanna, primary, Waetzig, Georg H., additional, Butzin, Sven, additional, Ziolkiewicz, Monika, additional, Al-Massad, Natalie, additional, Thieme, Florian, additional, Lövgren, Ulf, additional, Rasmussen, Birgitte B., additional, Reinheimer, Torsten M., additional, Seegert, Dirk, additional, Rosenstiel, Philip, additional, Szymczak, Silke, additional, and Schreiber, Stefan, additional

Published
2018
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41. Ancient DNA study reveals HLA susceptibility locus for leprosy in medieval Europeans

Author

Krause-Kyora, Ben, primary, Nutsua, Marcel, additional, Boehme, Lisa, additional, Pierini, Federica, additional, Pedersen, Dorthe Dangvard, additional, Kornell, Sabin-Christin, additional, Drichel, Dmitriy, additional, Bonazzi, Marion, additional, Möbus, Lena, additional, Tarp, Peter, additional, Susat, Julian, additional, Bosse, Esther, additional, Willburger, Beatrix, additional, Schmidt, Alexander H., additional, Sauter, Jürgen, additional, Franke, Andre, additional, Wittig, Michael, additional, Caliebe, Amke, additional, Nothnagel, Michael, additional, Schreiber, Stefan, additional, Boldsen, Jesper L., additional, Lenz, Tobias L., additional, and Nebel, Almut, additional

Published
2018
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42. Exposure to the gut microbiota drives distinct methylome and transcriptome changes in intestinal epithelial cells during postnatal development

Author

Pan, Wei-Hung, primary, Sommer, Felix, additional, Falk-Paulsen, Maren, additional, Ulas, Thomas, additional, Best, Philipp, additional, Fazio, Antonella, additional, Kachroo, Priyadarshini, additional, Luzius, Anne, additional, Jentzsch, Marlene, additional, Rehman, Ateequr, additional, Müller, Fabian, additional, Lengauer, Thomas, additional, Walter, Jörn, additional, Künzel, Sven, additional, Baines, John F., additional, Schreiber, Stefan, additional, Franke, Andre, additional, Schultze, Joachim L., additional, Bäckhed, Fredrik, additional, and Rosenstiel, Philip, additional

Published
2018
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43. The antibiotic resistome and microbiota landscape of refugees from Syria, Iraq and Afghanistan in Germany

Author

Häsler, Robert, primary, Kautz, Christian, additional, Rehman, Ateequr, additional, Podschun, Rainer, additional, Gassling, Volker, additional, Brzoska, Pius, additional, Sherlock, Jon, additional, Gräsner, Jan-Thorsten, additional, Hoppenstedt, Gesine, additional, Schubert, Sabine, additional, Ferlinz, Astrid, additional, Lieb, Wolfgang, additional, Laudes, Matthias, additional, Heinsen, Femke-Anouska, additional, Scholz, Jens, additional, Harmsen, Dag, additional, Franke, Andre, additional, Eisend, Swantje, additional, Kunze, Thomas, additional, Fickenscher, Helmut, additional, Ott, Stephan, additional, Rosenstiel, Philip, additional, and Schreiber, Stefan, additional

Published
2018
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45. Publisher Correction: Identification and characterization of two functional variants in the human longevity gene FOXO3

Author

Flachsbart, Friederike, primary, Dose, Janina, additional, Gentschew, Liljana, additional, Geismann, Claudia, additional, Caliebe, Amke, additional, Knecht, Carolin, additional, Nygaard, Marianne, additional, Badarinarayan, Nandini, additional, ElSharawy, Abdou, additional, May, Sandra, additional, Luzius, Anne, additional, Torres, Guillermo G., additional, Jentzsch, Marlene, additional, Forster, Michael, additional, Häsler, Robert, additional, Pallauf, Kathrin, additional, Lieb, Wolfgang, additional, Derbois, Céline, additional, Galan, Pilar, additional, Drichel, Dmitriy, additional, Arlt, Alexander, additional, Till, Andreas, additional, Krause-Kyora, Ben, additional, Rimbach, Gerald, additional, Blanché, Hélène, additional, Deleuze, Jean-François, additional, Christiansen, Lene, additional, Christensen, Kaare, additional, Nothnagel, Michael, additional, Rosenstiel, Philip, additional, Schreiber, Stefan, additional, Franke, Andre, additional, Sebens, Susanne, additional, and Nebel, Almut, additional

Published
2018
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46. Identification and characterization of two functional variants in the human longevity gene FOXO3

Author

Flachsbart, Friederike, primary, Dose, Janina, additional, Gentschew, Liljana, additional, Geismann, Claudia, additional, Caliebe, Amke, additional, Knecht, Carolin, additional, Nygaard, Marianne, additional, Badarinarayan, Nandini, additional, ElSharawy, Abdou, additional, May, Sandra, additional, Luzius, Anne, additional, Torres, Guillermo G., additional, Jentzsch, Marlene, additional, Forster, Michael, additional, Häsler, Robert, additional, Pallauf, Kathrin, additional, Lieb, Wolfgang, additional, Derbois, Céline, additional, Galan, Pilar, additional, Drichel, Dmitriy, additional, Arlt, Alexander, additional, Till, Andreas, additional, Krause-Kyora, Ben, additional, Rimbach, Gerald, additional, Blanché, Hélène, additional, Deleuze, Jean-François, additional, Christiansen, Lene, additional, Christensen, Kaare, additional, Nothnagel, Michael, additional, Rosenstiel, Philip, additional, Schreiber, Stefan, additional, Franke, Andre, additional, Sebens, Susanne, additional, and Nebel, Almut, additional

Published
2017
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47. Dysfunctional nitric oxide signalling increases risk of myocardial infarction

Author

Erdmann, Jeanette, Stark, Klaus, Esslinger, Ulrike B., Rumpf, Philipp Moritz, Koesling, Doris, de Wit, Cor, Kaiser, Frank J., Braunholz, Diana, Medack, Anja, Fischer, Marcus, Zimmermann, Martina E., Tennstedt, Stephanie, Graf, Elisabeth, Eck, Sebastian, Aherrahrou, Zouhair, Nahrstaedt, Janja, Willenborg, Christina, Bruse, Petra, Brænne, Ingrid, Nöthen, Markus M., Hofmann, Per, Braund, Peter S., Mergia, Evanthia, Reinhard, Wibke, Burgdorf, Christof, Schreiber, Stefan, Balmforth, Anthony J., Hall, Alistair S., Bertram, Lars, Steinhagen-Thiessen, Elisabeth, Li, Shu-Chen, März, Winfried, Reilly, Muredach, Kathiresan, Sekar, McPherson, Ruth, Walter, Ulrich, CARDIoGRAM, Ott, Jurg, Samani, Nilesh J., Strom, Tim M., Meitinger, Thomas, Hengstenberg, Christian, Schunkert, Heribert, Pharmacy, and Neurology

Subjects
Male, medicine.medical_specialty, Myocardial Infarction, Receptors, Cytoplasmic and Nuclear, 030204 cardiovascular system & hematology, Nitric Oxide, Article, Nitric oxide, Coronary artery disease, Mice, 03 medical and health sciences, chemistry.chemical_compound, Soluble Guanylyl Cyclase, 0302 clinical medicine, Internal medicine, medicine, Animals, Humans, Exome, Genetic Predisposition to Disease, Platelet, Myocardial infarction, Platelet activation, Thrombus, Cyclic GMP, 030304 developmental biology, 0303 health sciences, Multidisciplinary, GUCY1A3, Reproducibility of Results, Thrombosis, Platelet Activation, medicine.disease, Pedigree, 3. Good health, Vasodilation, HEK293 Cells, Endocrinology, Solubility, chemistry, Guanylate Cyclase, Mutation, cardiovascular system, Female, Disease Susceptibility, Soluble guanylyl cyclase, Chaperonin Containing TCP-1, Signal Transduction
Abstract

Myocardial infarction, a leading cause of death intheWesternworld(1), usually occurs when the fibrous cap overlying an atherosclerotic plaque in a coronary artery ruptures. The resulting exposure of blood to the atherosclerotic material then triggers thrombus formation, which occludes the artery(2). The importance of genetic predisposition to coronary artery disease and myocardial infarction is best documented by the predictive value of a positive family history(3). Nextgeneration sequencing in families with several affected individuals has revolutionized mutation identification(4). Here we report the segregation of two private, heterozygous mutations in two functionally relatedgenes, GUCY1A3 (p.Leu163Phefs*24) andCCT7 (p.Ser525Leu), in an extended myocardial infarction family. GUCY1A3 encodes the alpha 1 subunit of soluble guanylyl cyclase (alpha 1-sGC)(5), and CCT7 encodes CCT eta, a member of the tailless complex polypeptide 1 ring complex(6), which, among other functions, stabilizes soluble guanylyl cyclase. After stimulation with nitric oxide, soluble guanylyl cyclase generates cGMP, which induces vasodilation and inhibits platelet activation(7). Wedemonstratein vitro that mutations inbothGUCY1A3 and CCT7 severely reduce alpha 1-sGC as well as beta 1-sGC protein content, and impair soluble guanylyl cyclase activity. Moreover, platelets from digenic mutation carriers contained less soluble guanylyl cyclase protein and consequently displayed reduced nitric-oxideinduced cGMP formation. Mice deficient in alpha 1-sGC protein displayed accelerated thrombus formation in themicrocirculation after local trauma. Starting with a severely affected family, we have identified a link between impaired soluble-guanylyl-cyclase-dependent nitric oxide signalling and myocardial infarction risk, possibly through accelerated thrombus formation. Reversing this defect may provide a new therapeutic target for reducing the risk of myocardial infarction.

Published
2013

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