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Träfflista för sökning "WFRF:(Uhlig Holm H) "

Search: WFRF:(Uhlig Holm H)

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  • Salihovic, Samira, Associate Senior Lecturer, 1985-, et al. (author)
  • Identification and validation of a blood- based diagnostic lipidomic signature of pediatric inflammatory bowel disease
  • 2024
  • In: Nature Communications. - : Springer Nature. - 2041-1723. ; 15:1
  • Journal article (peer-reviewed)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-naïve 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.
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3.
  • Chen, Yin Huai, et al. (author)
  • Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome
  • 2020
  • In: The Journal of experimental medicine. - : Rockefeller University Press. - 1540-9538 .- 0022-1007. ; 217:3
  • Journal article (peer-reviewed)abstract
    • The gene IL6ST encodes GP130, the common signal transducer of the IL-6 cytokine family consisting of 10 cytokines. Previous studies have identified cytokine-selective IL6ST defects that preserve LIF signaling. We describe three unrelated families with at least five affected individuals who presented with lethal Stüve-Wiedemann-like syndrome characterized by skeletal dysplasia and neonatal lung dysfunction with additional features such as congenital thrombocytopenia, eczematoid dermatitis, renal abnormalities, and defective acute-phase response. We identified essential loss-of-function variants in IL6ST (a homozygous nonsense variant and a homozygous intronic splice variant with exon skipping). Functional tests showed absent cellular responses to GP130-dependent cytokines including IL-6, IL-11, IL-27, oncostatin M (OSM), and leukemia inhibitory factor (LIF). Genetic reconstitution of GP130 by lentiviral transduction in patient-derived cells reversed the signaling defect. This study identifies a new genetic syndrome caused by the complete lack of signaling of a whole family of GP130-dependent cytokines in humans and highlights the importance of the LIF signaling pathway in pre- and perinatal development.
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Type of publication
journal article (2)
other publication (1)
Type of content
peer-reviewed (2)
other academic/artistic (1)
Author/Editor
Burisch, Johan (2)
Söderholm, Johan D (2)
D'Amato, Mauro (2)
Andersen, Svend (2)
Dorn-Rasmussen, Mari ... (2)
Olbjørn, Christine (2)
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Satsangi, Jack (2)
Salihovic, Samira (1)
Halfvarson, Jonas, 1 ... (1)
Carlson, Marie (1)
Magnusson, Maria K, ... (1)
Öhman, Lena, 1967 (1)
Salihovic, Samira, A ... (1)
Hyötyläinen, Tuulia, ... (1)
Orešič, Matej, 1967- (1)
Laurence, Arian (1)
Cormier-Daire, Valer ... (1)
Repsilber, Dirk, 197 ... (1)
Öhman, Lena (1)
Halfvarson, Jonas (1)
Carlson, Marie, 1957 ... (1)
Papadogiannakis, Nik ... (1)
Kruse, Robert, 1972- (1)
Grigelioniene, Giedr ... (1)
Gisselsson, David (1)
Elfving, Maria (1)
Lindqvist, Carl Mårt ... (1)
Alkuraya, Fowzan S. (1)
Lindqvist, Carl Mårt ... (1)
Bazov, Igor (1)
Bazov, Igor, 1973- (1)
Keita, Åsa (1)
Detlie, Trond Espen (1)
Keita, Åsa V. (1)
Brodszki, Jana (1)
Repsilber, Dirk (1)
Oresic, Matej (1)
Chagin, Andrei S (1)
Chen, Yin Huai (1)
Newton, Phillip T. (1)
Gullander, Jacob (1)
Hammarsjö, Anna (1)
Batkovskyte, Dominyk ... (1)
Alsaif, Hessa S. (1)
Kurdi, Wesam I.Y. (1)
Abdulwahab, Firdous (1)
Shanmugasundaram, Ve ... (1)
Devey, Luke (1)
Bacrot, Séverine (1)
Huber, Celine (1)
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University
Uppsala University (2)
Karolinska Institutet (2)
University of Gothenburg (1)
Örebro University (1)
Linköping University (1)
Lund University (1)
Language
English (3)
Research subject (UKÄ/SCB)
Medical and Health Sciences (3)

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