Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic

Autor: Christopher J.A. Duncan, Morten K. Skouboe, Sophie Howarth, Anne K. Hollensen, Rui Chen, Malene L. Børresen, Benjamin J. Thompson, Jarmila Stremenova Spegarova, Catherine F. Hatton, Frederik F. Stæger, Mette K. Andersen, John Whittaker, Søren R. Paludan, Sofie E. Jørgensen, Martin K. Thomsen, Jacob G. Mikkelsen, Carsten Heilmann, Daniela Buhas, Nina F. Øbro, Jakob T. Bay, Hanne V. Marquart, M. Teresa de la Morena, Joseph A. Klejka, Matthew Hirschfeld, Line Borgwardt, Isabel Forss, Tania Masmas, Anja Poulsen, Francisco Noya, Guy Rouleau, Torben Hansen, Sirui Zhou, Anders Albrechtsen, Reza Alizadehfar, Eric J. Allenspach, Sophie Hambleton, Trine H. Mogensen

Publikováno v: Duncan, C J A, Skouboe, M K, Howarth, S, Hollensen, A K, Chen, R, Børresen, M L, Thompson, B J, Spegarova, J S, Hatton, C F, Stæger, F F, Andersen, M K, Whittaker, J, Paludan, S R, Jørgensen, S E, Thomsen, M K, Mikkelsen, J G, Heilmann, C, Buhas, D, Øbro, N F, Bay, J T, Marquart, H V, Morena, M T D L, Klejka, J A, Hirschfeld, M, Borgwardt, L, Forss, I, Masmas, T, Poulsen, A, Noya, F, Rouleau, G, Hansen, T, Zhou, S, Albrechtsen, A, Alizadehfar, R, Allenspach, E J, Hambleton, S & Mogensen, T H 2022, ' Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic ', Journal of Experimental Medicine, vol. 219, no. 6, e20212427 . https://doi.org/10.1084/jem.20212427
Duncan, C J A, Skouboe, M K, Howarth, S, Hollensen, A K, Chen, R, Børresen, M L, Thompson, B J, Stremenova Spegarova, J, Hatton, C F, Stæger, F F, Andersen, M K, Whittaker, J, Paludan, S R, Jørgensen, S E, Thomsen, M K, Mikkelsen, J G, Heilmann, C, Buhas, D, Øbro, N F, Bay, J T, Marquart, H V, de la Morena, M T, Klejka, J A, Hirschfeld, M, Borgwardt, L, Forss, I, Masmas, T, Poulsen, A, Noya, F, Rouleau, G, Hansen, T, Zhou, S, Albrechtsen, A, Alizadehfar, R, Allenspach, E J, Hambleton, S & Mogensen, T H 2022, ' Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic ', The Journal of Experimental Medicine, vol. 219, no. 6, e20212427 . https://doi.org/10.1084/jem.20212427

Type I interferons (IFN-I) play a critical role in human antiviral immunity, as demonstrated by the exceptionally rare deleterious variants of IFNAR1 or IFNAR2. We investigated five children from Greenland, Canada, and Alaska presenting with viral di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e0e93df69405efb9dfa8932bb4d0da2
https://curis.ku.dk/portal/da/publications/lifethreatening-viral-disease-in-a-novel-form-of-autosomal-recessive-ifnar2-deficiency-in-the-arctic(38e5d906-7ed0-4521-981d-02d7dbdab48d).html

Two cases of somatic STK11 mosaicism in Danish patients with Peutz-Jeghers syndrome

Autor: Anne Marie, Jelsig, Birgitte, Bertelsen, Isabel, Forss, John Gásdal, Karstensen

Publikováno v: Familial cancer. 20(1)

Peutz-Jeghers syndrome (PJS) is a hereditary polyposis syndrome characterized by hamartomatous Peutz-Jeghers polyps in the gastrointestinal tract, mucocutaneous pigmentations, and increased risk for intestinal and extraintestinal cancer. In more than

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a24b86405aa057f574a768903e8f238f
https://pubmed.ncbi.nlm.nih.gov/32504210

SnapShot: Niche Determines Adipocyte Character I

Autor: Isabel Forss, Ormond A. MacDougald, Susanne Mandrup, Devika P. Bagchi

Publikováno v: Bagchi, D P, Forss, I, Mandrup, S & MacDougald, O A 2018, ' SnapShot : Niche Determines Adipocyte Character I ', Cell Metabolism, vol. 27, no. 1, pp. 264-264.e1 . https://doi.org/10.1016/j.cmet.2017.11.012

Adipose tissues are complex organs, with central roles in energy homeostasis as well as local functions. Adipocytes develop in diverse, discrete locations throughout the body. Important regional differences in adipocytes exist, and diseases that affe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0115aa78ecbba464b4d2d5a7dac319ee
https://pubmed.ncbi.nlm.nih.gov/29320707

Cardiolipin synthesis in brown and beige fat mitochondria is essential for systemic energy homeostasis

Autor: Torben Hansen, Allan Linneberg, Morten Lundh, Bente Klarlund Pedersen, Nils J. Færgeman, Marta Moreno-Torres, Katharina Stohlmann, Xianlin Han, Julia Peics, Martin Jastroch, Susanne Mandrup, Elahu G. Sustarsic, Barbara Kramar, Andreas Kjaer, Camilla Scheele, Matthew P. Gillum, Iuliia Karavaeva, Trisha J. Grevengoed, Cramer Christensen, Niels Grarup, Yu-Hua Tseng, Matthew D. Lynes, Mark P. Jedrychowski, Kaja Plucinska, Ditte Neess, Oluf Pedersen, Carsten H. Nielsen, Marit E. Jørgensen, Ivan Brandslund, Michael Larsen, Zachary Gerhart-Hines, Jakob Bondo Hansen, Farnaz Shamsi, Michael A. Kiebish, Brice Emanuelli, Susanne Keipert, Søren Nielsen, Steven P. Gygi, Tao Ma, Jianing Wang, Isabel Forss, Jesper F. Havelund, Naja Z. Jespersen, Klaus Qvortrup

Publikováno v: Moreno Torres, Marta Ma, Tao Lynes, Matthew D. Larsen, Michael Karavaeva, Iuliia Havelund, Jesper F. Nielsen, Carsten H. Jedrychowski, Mark P Sustarsic, Elahu G. Lundh, Morten Plucinska, Kaja Jespersen, Naja Z. 2018 Cardiolipin synthesis in brown and beige fat mitochondria is essential for systemic energy homeostasis Cell Metabolism 28 3 159 174
Cell Metabolism
Sustarsic, E G, Ma, T, Lynes, M D, Larsen, M, Karavaeva, I, Havelund, J F, Nielsen, C H, Jedrychowski, M P, Moreno-Torres, M, Lundh, M, Plucinska, K, Jespersen, N Z, Grevengoed, T J, Kramar, B, Peics, J, Hansen, J B, Shamsi, F, Forss, I, Neess, D, Keipert, S, Wang, J, Stohlmann, K, Brandslund, I, Christensen, C, Jørgensen, M E, Linneberg, A, Pedersen, O, Kiebish, M A, Qvortrup, K, Han, X, Pedersen, B K, Jastroch, M, Mandrup, S, Kjær, A, Gygi, S P, Hansen, T, Gillum, M P, Grarup, N, Emanuelli, B, Nielsen, S, Scheele, C, Tseng, Y H, Færgeman, N J & Gerhart-Hines, Z 2018, ' Cardiolipin Synthesis in Brown and Beige Fat Mitochondria Is Essential for Systemic Energy Homeostasis ', Cell Metabolism, vol. 28, no. 1, pp. 159-174.e11 . https://doi.org/10.1016/j.cmet.2018.05.003
Sustarsic, E G, Ma, T, Lynes, M D, Larsen, M, Karavaeva, I, Havelund, J F, Nielsen, C H, Jedrychowski, M P, Moreno-Torres, M, Lundh, M, Plucinska, K, Jespersen, N Z, Grevengoed, T J, Kramar, B, Peics, J, Hansen, J B, Shamsi, F, Forss, I, Neess, D, Keipert, S, Wang, J, Stohlmann, K, Brandslund, I, Christensen, C, Jørgensen, M E, Linneberg, A, Pedersen, O, Kiebish, M A, Qvortrup, K, Han, X, Pedersen, B K, Jastroch, M, Mandrup, S, Kjær, A, Gygi, S P, Hansen, T, Gillum, M P, Grarup, N, Emanuelli, B, Nielsen, S, Scheele, C, Tseng, Y-H, Færgeman, N J & Gerhart-Hines, Z 2018, ' Cardiolipin Synthesis in Brown and Beige Fat Mitochondria Is Essential for Systemic Energy Homeostasis ', Cell Metabolism, vol. 28, no. 1, pp. 159-174.e11 . https://doi.org/10.1016/j.cmet.2018.05.003
Cell Metab. 28, 159-+ (2018)

Summary Activation of energy expenditure in thermogenic fat is a promising strategy to improve metabolic health, yet the dynamic processes that evoke this response are poorly understood. Here we show that synthesis of the mitochondrial phospholipid c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::411a2d80d0a5ed51dd9373812c772742
https://hdl.handle.net/10550/86737

Author Correction: Osteogenesis depends on commissioning of a network of stem cell transcription factors that act as repressors of adipogenesis

Autor: Michaela Tencerova, Elvira Laila Van Hauwaert, Anders K. Haakonsson, Naja Z. Jespersen, Martin Rønn Madsen, Christian Wiwie, Ronni Nielsen, Jesper Grud Skat Madsen, Bjørk Ditlev Larsen, Jan Baumbach, Camilla Scheele, Alexander Rauch, Susanne Mandrup, Isabel Forss, Mette Voldby Larsen, Moustapha Kassem, Richard Röttger

Publikováno v: Nature Genetics. 51:766-766

In the version of this article initially published, in the graph keys in Fig. 1i, the colors indicating 'Ob' and 'Ad' were red and blue, respectively, but should have been blue and red, respectively; the shapes indicating 'MUS' and 'BM' were a triang

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3b815729aebf97f1bf2e67d2cd36d643
https://doi.org/10.1038/s41588-019-0400-4