Mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF, and result in Aicardi-Goutières syndrome with severe end-organ involvement

Autor: Naesens, Leslie, Nemegeer, Josephine, Roelens, Filip, Vallaeys, Lore, Meuwissen, Marije, Janssens, Katrien, Verloo, Patrick, Ogunjimi, Benson, Hemelsoet, Dimitri, Hoste, Levi, Roels, Lisa, De Bruyne, Marieke, De Baere, Elfride, Van Dorpe, Jo, Dendooven, Amélie, Sieben, Anne, Rice, Gillian I., Kerre, Tessa, Beyaert, Rudi, Uggenti, Carolina, Crow, Yanick J., Tavernier, Simon, Maelfait, Jonathan, Haerynck, Filomeen, Program for Undiagnosed Rare Diseases (UD-PrOZA), [missing]

Publikováno v: JOURNAL OF CLINICAL IMMUNOLOGY
Journal of clinical immunology
Hoste, L, Roels, L, De Bruyne, M, De Baere, E, Van Dorpe, J, Dendooven, A, Sieben, A, Rice, G I, Kerre, T, Beyaert, R, Uggenti, C, Crow, Y J, Tavernier, S J & Maelfait, J & Haerynck, F 2022, ' Mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF, and result in Aicardi-Goutières Syndrome with severe end-organ involvement ', Journal of Clinical Immunology . https://doi.org/10.1007/s10875-022-01209-5
Program for Undiagnosed Rare Diseases (UD-PrOZA) 2022, ' Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutieres Syndrome with Severe End-Organ Involvement ', Journal of clinical immunology . https://doi.org/10.1007/s10875-022-01209-5

Background Aicardi-Goutières syndrome (AGS) is a type I interferonopathy usually characterized by early-onset neurologic regression. Biallelic mutations in LSM11 and RNU7-1, components of the U7 small nuclear ribonucleoprotein (snRNP) complex, have

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https://hdl.handle.net/1854/LU-8747264

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Pediatric Outcome after Maternal Cancer Diagnosed during Pregnancy.

Autor: Amant F; From the Department of Gynecologic Oncology, University Hospitals Leuven and Department of Oncology, Katholieke Universiteit Leuven (F.A., T.V., M.V., S.H.), Departments of Cardiology (J.-U. V.), Pediatrics (G.N., L.V., L.L.), and Obstetrics (K.V.C.), University Hospitals Leuven, and the Department of Growth and Regeneration (G.N., L.L., K.V.C.) and the Faculty of Psychology and Educational Sciences (L.C.), Katholieke Universiteit Leuven, Leuven, and the Department of Obstetrics, Cliniques Universitaires St. Luc, Brussels (M.M.G.) - all in Belgium; Neonatal Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano, Università degli Studi di Milano (M.F.) and Fertility and Reproduction Unit, European Institute of Oncology (F.P.) - both in Milan; the Department of Obstetrics and Gynecology, Charles University, Prague, Czech Republic (M.J.H., L.R.); the Department of Medical Oncology, Erasmus Medical Center Cancer Institute, Rotterdam (I.B.), Center for Gynecologic Oncology Amsterdam, Antoni van Leeuwenhoek-Netherlands Cancer Institute, Amsterdam (F.A., C.L.), and the Department of Medical Oncology, University Medical Center Utrecht Cancer Center, Utrecht (P.W.) - all in the Netherlands; the Departments of Physics, Nuclear Physics, and Medical Physics, University of Oxford, Oxford, United Kingdom (F.V.H.); and the Department of Cardiology, Hospital for Sick Children, University of Toronto, Toronto (L.M.)., Vandenbroucke T, Verheecke M, Fumagalli M, Halaska MJ, Boere I, Han S, Gziri MM, Peccatori F, Rob L, Lok C, Witteveen P, Voigt JU, Naulaers G, Vallaeys L, Van den Heuvel F, Lagae L, Mertens L, Claes L, Van Calsteren K

Publikováno v: The New England journal of medicine [N Engl J Med] 2015 Nov 05; Vol. 373 (19), pp. 1824-34. Date of Electronic Publication: 2015 Sep 28.