Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Henrik Arnell"'
Autor:
Egle Kvedaraite, Magda Lourda, Natalia Mouratidou, Tim Düking, Avinash Padhi, Kirsten Moll, Paulo Czarnewski, Indranil Sinha, Ioanna Xagoraris, Efthymia Kokkinou, Anastasios Damdimopoulos, Whitney Weigel, Olga Hartwig, Telma E. Santos, Tea Soini, Aline Van Acker, Nelly Rahkonen, Malin Flodström Tullberg, Emma Ringqvist, Marcus Buggert, Carl Jorns, Ulrik Lindforss, Caroline Nordenvall, Christopher T. Stamper, David Unnersjö-Jess, Mira Akber, Ruta Nadisauskaite, Jessica Jansson, Niels Vandamme, Chiara Sorini, Marijke Elise Grundeken, Helena Rolandsdotter, George Rassidakis, Eduardo J. Villablanca, Maja Ideström, Stefan Eulitz, Henrik Arnell, Jenny Mjösberg, Jan-Inge Henter, Mattias Svensson
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-16 (2024)
Abstract Stromal cells support epithelial cell and immune cell homeostasis and play an important role in inflammatory bowel disease (IBD) pathogenesis. Here, we quantify the stromal response to inflammation in pediatric IBD and reveal subset-specific
Externí odkaz:
https://doaj.org/article/4dc18c7a87ab47da922abb5a03ceaf68
Publikováno v:
BMC Medicine, Vol 20, Iss 1, Pp 1-9 (2022)
Abstract Background Untreated celiac disease (CD) patients have increased levels of blood glutamine and a lower duodenal expression of glutaminase (GLS). Intestinal gluconeogenesis (IGN) is a process through which glutamine is turned into glucose in
Externí odkaz:
https://doaj.org/article/1da1ec41658a47f58461679e1e908fa5
Autor:
Daniel W. Hagey, Egle Kvedaraite, Mira Akber, André Görgens, Joman Javadi, Tatiana von Bahr Greenwood, Caroline Björklund, Selma Olsson Åkefeldt, Tova Hannegård-Hamrin, Henrik Arnell, Katalin Dobra, Nikolas Herold, Mattias Svensson, Samir EL Andaloussi, Jan-Inge Henter, Magda Lourda
Publikováno v:
Haematologica, Vol 108, Iss 9 (2023)
Langerhans cell histiocytosis (LCH) is a potentially life-threatening inflammatory myeloid neoplasia linked to pediatric neurodegeneration, whereby transformed LCH cells form agglomerated lesions in various organs. Although MAP-kinase pathway mutatio
Externí odkaz:
https://doaj.org/article/73b3716c5fc848519e01566ce7fbf090
Autor:
Antonia Felzen, Daan B.E. van Wessel, Emmanuel Gonzales, Richard J. Thompson, Irena Jankowska, Benjamin L. Shneider, Etienne Sokal, Tassos Grammatikopoulos, Agustina Kadaristiana, Emmanuel Jacquemin, Anne Spraul, Patryk Lipiński, Piotr Czubkowski, Nathalie Rock, Mohammad Shagrani, Dieter Broering, Emanuele Nicastro, Deirdre Kelly, Gabriella Nebbia, Henrik Arnell, Björn Fischler, Jan B.F. Hulscher, Daniele Serranti, Cigdem Arikan, Esra Polat, Dominique Debray, Florence Lacaille, Cristina Goncalves, Loreto Hierro, Gema Muñoz Bartolo, Yael Mozer-Glassberg, Amer Azaz, Jernej Brecelj, Antal Dezsőfi, Pier Luigi Calvo, Enke Grabhorn, Steffen Hartleif, Wendy J. van der Woerd, Binita M. Kamath, Jian-She Wang, Liting Li, Özlem Durmaz, Nanda Kerkar, Marianne Hørby Jørgensen, Ryan Fischer, Carolina Jimenez-Rivera, Seema Alam, Mara Cananzi, Noemie Laverdure, Cristina Targa Ferreira, Felipe Ordoñez Guerrero, Heng Wang, Valerie Sency, Kyung Mo Kim, Huey-Ling Chen, Elisa de Carvalho, Alexandre Fabre, Jesus Quintero Bernabeu, Aglaia Zellos, Estella M. Alonso, Ronald J. Sokol, Frederick J. Suchy, Kathleen M. Loomes, Patrick J. McKiernan, Philip Rosenthal, Yumirle Turmelle, Simon Horslen, Kathleen Schwarz, Jorge A. Bezerra, Kasper Wang, Bettina E. Hansen, Henkjan J. Verkade
Publikováno v:
JHEP Reports, Vol 5, Iss 2, Pp 100626- (2023)
Background & Aims: Bile salt export pump (BSEP) deficiency frequently necessitates liver transplantation in childhood. In contrast to two predicted protein truncating mutations (PPTMs), homozygous p.D482G or p.E297G mutations are associated with rela
Externí odkaz:
https://doaj.org/article/bbb97439dbff47198444dd0e83e7f0cb
Autor:
Henrik Stranneheim, Kristina Lagerstedt-Robinson, Måns Magnusson, Malin Kvarnung, Daniel Nilsson, Nicole Lesko, Martin Engvall, Britt-Marie Anderlid, Henrik Arnell, Carolina Backman Johansson, Michela Barbaro, Erik Björck, Helene Bruhn, Jesper Eisfeldt, Christoph Freyer, Giedre Grigelioniene, Peter Gustavsson, Anna Hammarsjö, Maritta Hellström-Pigg, Erik Iwarsson, Anders Jemt, Mikael Laaksonen, Sara Lind Enoksson, Helena Malmgren, Karin Naess, Magnus Nordenskjöld, Mikael Oscarson, Maria Pettersson, Chiara Rasi, Adam Rosenbaum, Ellika Sahlin, Eliane Sardh, Tommy Stödberg, Bianca Tesi, Emma Tham, Håkan Thonberg, Virpi Töhönen, Ulrika von Döbeln, Daphne Vassiliou, Sofie Vonlanthen, Ann-Charlotte Wikström, Josephine Wincent, Ola Winqvist, Anna Wredenberg, Sofia Ygberg, Rolf H. Zetterström, Per Marits, Maria Johansson Soller, Ann Nordgren, Valtteri Wirta, Anna Lindstrand, Anna Wedell
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-15 (2021)
Abstract Background We report the findings from 4437 individuals (3219 patients and 1218 relatives) who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine Center Karolinska-Rare Diseases (GMCK-RD) since mid-2015. GMCK-RD repr
Externí odkaz:
https://doaj.org/article/24239a4e507a406db912b81371637d5d
Publikováno v:
Clinical Case Reports, Vol 7, Iss 6, Pp 1133-1138 (2019)
Key Clinical Message Wolcott‐Rallison syndrome is a rare genetic syndrome of neonatal diabetes, liver failure, and growth retardation. We present a case with a EIF2AK3 p.(Arg902Ter) mutation, additionally complicated by hypothyroidism, impaired ren
Externí odkaz:
https://doaj.org/article/798b5f8532304f8e81eb05e26f5fc96d
Autor:
Åsa Torinsson Naluai, Ladan Saadat Vafa, Audur H Gudjonsdottir, Henrik Arnell, Lars Browaldh, Staffan Nilsson, Daniel Agardh
Publikováno v:
PLoS ONE, Vol 13, Iss 3, p e0193764 (2018)
We have previously performed a Genome Wide Association and linkage study that indicated a new disease triggering mechanism involving amino acid metabolism and nutrient sensing signaling pathways.The aim of this study was to investigate if plasma amin
Externí odkaz:
https://doaj.org/article/859be2c6c28d4ef3b15deb997eb52fc7
Autor:
Terry G. J. Derks MD, PhD, Antal Nemeth MD, PhD, Katrin Adrian MD, PhD, Henrik Arnell MD, PhD, Ann Bech Roskjær RD, Eva Beijer MD, Sebastiaan te Boekhorst BICT, Carina Heidenborg RD, Marcus Landgren MD ,PhD, Mikael Nilsson RD, Domniki Papadopoulou MD, Katalin Ross RD, Elisabeth Sjöqvist RD, U Stachelhaus-Theimer MD, Ulrike Steuerwald MD, Carl-Johan Törnhage MD, PhD, David A. Weinstein MD, PhD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 5 (2017)
The third international meeting of the Scandinavian Association for Glycogen Storage Disease focused on hepatic glycogen storage disease and was organized for health-care professionals, patient representatives, and representatives from the industry.
Externí odkaz:
https://doaj.org/article/f081dbb83c644ac6b24016df1062e2d6
Autor:
Marianne Bonnert, Brjánn Ljótsson, Erik Hedman, Johanna Andersson, Henrik Arnell, Marc A. Benninga, Magnus Simrén, Helena Thulin, Ulrika Thulin, Sarah Vigerland, Eva Serlachius, Ola Olén
Publikováno v:
Internet Interventions, Vol 1, Iss 3, Pp 141-148 (2014)
Functional gastrointestinal disorders (FGID), including irritable bowel syndrome, functional dyspepsia and functional abdominal pain, are common in adolescents and are associated with substantially decreased quality of life. Cognitive behavior therap
Externí odkaz:
https://doaj.org/article/a60b026bbaf44cb2b1730a0dfbfcca01
Autor:
Joanna Mostowy, Caroline Montén, Audur H Gudjonsdottir, Henrik Arnell, Lars Browaldh, Staffan Nilsson, Daniel Agardh, Åsa Torinsson Naluai
Publikováno v:
PLoS ONE, Vol 11, Iss 8, p e0159593 (2016)
Genome-wide association studies (GWAS) have identified several genetic regions involved in immune-regulatory mechanisms to be associated with celiac disease. Previous GWAS also revealed an over-representation of genes involved in type 2 diabetes and
Externí odkaz:
https://doaj.org/article/4df5635c475f465fadc0881dd86b8900