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Your search keyword '"Apalset, Ellen M"' showing total 8 results
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8 results on '"Apalset, Ellen M"'

1. Fracture liaison service (FLS) is associated with lower subsequent fragility fracture risk and mortality: NoFRACT (the Norwegian capture the fracture initiative)

Author

Andreasen, Camilla, Dahl, Cecilie, Frihagen, Frede, Borgen, Tove T., Basso, Trude, Gjertsen, Jan-Erik, Figved, Wender, Wisløff, Torbjørn, Hagen, Gunhild, Apalset, Ellen M., Stutzer, Jens M., Lund, Ida, Hansen, Ann K., Nissen, Frida I., Joakimsen, Ragnar M., Syversen, Unni, Eriksen, Erik F., Nordsletten, Lars, Omsland, Tone K., Bjørnerem, Åshild, and Solberg, Lene Bergendal

Published
2025
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3. Validation of forearm fracture diagnoses in administrative patient registers

Author

Omsland, Tone Kristin, Solberg, Lene B., Bjørnerem, Åshild, Borgen, Tove T., Andreasen, Camilla, Wisløff, Torbjørn, Hagen, Gunhild, Basso, Trude, Gjertsen, Jan-Erik, Apalset, Ellen M., Figved, Wender, Stutzer, Jens M., Nissen, Frida I., Hansen, Ann K., Joakimsen, Ragnar M., Figari, Elisa, Peel, Geoffrey, Rashid, Ali A., Khoshkhabari, Jashar, Eriksen, Erik F., Nordsletten, Lars, Frihagen, Frede, and Dahl, Cecilie

Published
2023
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4. Impact of Total Hip Replacements on the Incidence of Hip Fractures in Norway During 1999–2019. A Norwegian Epidemiologic Osteoporosis Studies (NOREPOS) Study

Author

Kjeldgaard, Helena Kames, primary, Meyer, Haakon E., additional, O'Flaherty, Martin, additional, Apalset, Ellen M., additional, Dahl, Cecilie, additional, Emaus, Nina, additional, Fenstad, Anne Marie, additional, Furnes, Ove, additional, Gjertsen, Jan‐Erik, additional, Hoff, Mari, additional, Schei, Berit, additional, Søgaard, Anne Johanne, additional, Tell, Grethe S., additional, and Holvik, Kristin, additional

Published
2022
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5. Gain-of-function mutations inALPK1cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome

Author

Kozycki, Christina Torres, primary, Kodati, Shilpa, additional, Huryn, Laryssa, additional, Wang, Hongying, additional, Warner, Blake M, additional, Jani, Priyam, additional, Hammoud, Dima, additional, Abu-Asab, Mones S, additional, Jittayasothorn, Yingyos, additional, Mattapallil, Mary J, additional, Tsai, Wanxia Li, additional, Ullah, Ehsan, additional, Zhou, Ping, additional, Tian, Xiaoying, additional, Soldatos, Ariane, additional, Moutsopoulos, Niki, additional, Kao-Hsieh, Marie, additional, Heller, Theo, additional, Cowen, Edward W, additional, Lee, Chyi-Chia Richard, additional, Toro, Camilo, additional, Kalsi, Shelley, additional, Khavandgar, Zohreh, additional, Baer, Alan, additional, Beach, Margaret, additional, Long Priel, Debra, additional, Nehrebecky, Michele, additional, Rosenzweig, Sofia, additional, Romeo, Tina, additional, Deuitch, Natalie, additional, Brenchley, Laurie, additional, Pelayo, Eileen, additional, Zein, Wadih, additional, Sen, Nida, additional, Yang, Alexander H, additional, Farley, Gary, additional, Sweetser, David A, additional, Briere, Lauren, additional, Yang, Janine, additional, de Oliveira Poswar, Fabiano, additional, Schwartz, Ida Vanessa D, additional, Silva Alves, Tamires, additional, Dusser, Perrine, additional, Koné-Paut, Isabelle, additional, Touitou, Isabelle, additional, Titah, Salah Mohamed, additional, van Hagen, Petrus Martin, additional, van Wijck, Rogier T A, additional, van der Spek, Peter J, additional, Yano, Hiromi, additional, Benneche, Andreas, additional, Apalset, Ellen M, additional, Jansson, Ragnhild Wivestad, additional, Caspi, Rachel R, additional, Kuhns, Douglas Byron, additional, Gadina, Massimo, additional, Takada, Hidetoshi, additional, Ida, Hiroaki, additional, Nishikomori, Ryuta, additional, Verrecchia, Elena, additional, Sangiorgi, Eugenio, additional, Manna, Raffaele, additional, Brooks, Brian P, additional, Sobrin, Lucia, additional, Hufnagel, Robert B, additional, Beck, David, additional, Shao, Feng, additional, Ombrello, Amanda K, additional, Aksentijevich, Ivona, additional, and Kastner, Daniel L, additional

Published
2022
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7. Impact of Total Hip Replacements on the Incidence of Hip Fractures in Norway During 1999-2019. A NOREPOS Study

Author

Kjeldgaard, Helena Kames, primary, Meyer, Haakon E., additional, O'Flaherty, Martin, additional, Apalset, Ellen M., additional, Dahl, Cecilie, additional, Emaus, Nina, additional, Fenstad, Anne Marie, additional, Furnes, Ove, additional, Gjertsen, Jan-Erik, additional, Hoff, Mari, additional, Schei, Berit, additional, Sogaard, Anne Johanne, additional, Tell, Grethe S., additional, and Holvik, Kristin, additional

Published
2022
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8. Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.

Author

Kozycki CT, Kodati S, Huryn L, Wang H, Warner BM, Jani P, Hammoud D, Abu-Asab MS, Jittayasothorn Y, Mattapallil MJ, Tsai WL, Ullah E, Zhou P, Tian X, Soldatos A, Moutsopoulos N, Kao-Hsieh M, Heller T, Cowen EW, Lee CR, Toro C, Kalsi S, Khavandgar Z, Baer A, Beach M, Long Priel D, Nehrebecky M, Rosenzweig S, Romeo T, Deuitch N, Brenchley L, Pelayo E, Zein W, Sen N, Yang AH, Farley G, Sweetser DA, Briere L, Yang J, de Oliveira Poswar F, Schwartz IVD, Silva Alves T, Dusser P, Koné-Paut I, Touitou I, Titah SM, van Hagen PM, van Wijck RTA, van der Spek PJ, Yano H, Benneche A, Apalset EM, Jansson RW, Caspi RR, Kuhns DB, Gadina M, Takada H, Ida H, Nishikomori R, Verrecchia E, Sangiorgi E, Manna R, Brooks BP, Sobrin L, Hufnagel RB, Beck D, Shao F, Ombrello AK, Aksentijevich I, and Kastner DL

Subjects
Amyloidosis, Animals, Cohort Studies, Gain of Function Mutation, Humans, Inflammation genetics, Mice, Mutation, Protein Kinases metabolism, Quality of Life, Serum Amyloid A Protein, Syndrome, Tumor Necrosis Factor Inhibitors, Hereditary Autoinflammatory Diseases genetics, NF-kappa B genetics, NF-kappa B metabolism, Protein Kinases genetics
Abstract

Objectives: To test the hypothesis that ROSAH (retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and headache) syndrome, caused by dominant mutation in ALPK1 , is an autoinflammatory disease., Methods: This cohort study systematically evaluated 27 patients with ROSAH syndrome for inflammatory features and investigated the effect of ALPK1 mutations on immune signalling. Clinical, immunologic and radiographical examinations were performed, and 10 patients were empirically initiated on anticytokine therapy and monitored. Exome sequencing was used to identify a new pathogenic variant. Cytokine profiling, transcriptomics, immunoblotting and knock-in mice were used to assess the impact of ALPK1 mutations on protein function and immune signalling., Results: The majority of the cohort carried the p.Thr237Met mutation but we also identified a new ROSAH-associated mutation, p.Tyr254Cys.Nearly all patients exhibited at least one feature consistent with inflammation including recurrent fever, headaches with meningeal enhancement and premature basal ganglia/brainstem mineralisation on MRI, deforming arthritis and AA amyloidosis. However, there was significant phenotypic variation, even within families and some adults lacked functional visual deficits. While anti-TNF and anti-IL-1 therapies suppressed systemic inflammation and improved quality of life, anti-IL-6 (tocilizumab) was the only anticytokine therapy that improved intraocular inflammation (two of two patients).Patients' primary samples and in vitro assays with mutated ALPK1 constructs showed immune activation with increased NF-κB signalling, STAT1 phosphorylation and interferon gene expression signature. Knock-in mice with the Alpk1 T237M mutation exhibited subclinical inflammation.Clinical features not conventionally attributed to inflammation were also common in the cohort and included short dental roots, enamel defects and decreased salivary flow., Conclusion: ROSAH syndrome is an autoinflammatory disease caused by gain-of-function mutations in ALPK1 and some features of disease are amenable to immunomodulatory therapy., Competing Interests: Competing interests: FS is a cofounder and stockholder of Pyrotech therapeutics, a company that aims to develop agonist/inhibitor drugs for ALPK1. RM has received honorary fees for lectures from SHIRE-TAKEDA- SANOFI- NOVARTIS-SOBI and Nida Sen is employed by Janssen., (© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ.)

Published
2022
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