Zobrazeno 1 - 10
of 307
pro vyhledávání: '"Yanick J Crow"'
Publikováno v:
Indian Journal of Ophthalmology, Vol 67, Iss 1, Pp 165-167 (2019)
Blau syndrome (BS) is a rare autoinflammatory disorder characterized by the clinical triad of arthritis, uveitis, and dermatitis due to heterozygous gain-of-function mutations in the NOD2 gene. BS can mimic juvenile idiopathic arthritis (JIA)-associa
Externí odkaz:
https://doaj.org/article/5f8e0ccc42144834bf1ee421f71eabd9
Autor:
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E. Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M. Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V. Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T. Pagnamenta, Ajia Pennavaria, Liv S. Krogstad, Åse K. Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M. Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean-François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad Alajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmuller, Sahar I. Da’as, Khalid A. Fakhro, Alicia Gómez-Pascual, Juan A. Botía, Nicholas W. Wood, Rita Horvath, Andreas M. Ernst, James E. Rothman, Meriel McEntagart, Yanick J. Crow, Fowzan S. Alkuraya, Gaël Nicolas, SYNaPS Study Group, Thomas Arnesen, Henry Houlden
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Abstract Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain, causing progressive movement disorders, psychiatric symptoms, and cognitive decline. PFBC is a heterogeneous disorder currently linked to varian
Externí odkaz:
https://doaj.org/article/1b66ac89bf354c83adcf4b0c6dc91661
Autor:
Eloy Cuadrado, Thijs Booiman, John L van Hamme, Machiel H Jansen, Karel A van Dort, Adeline Vanderver, Gillian I Rice, Yanick J Crow, Neeltje A Kootstra, Taco W Kuijpers
Publikováno v:
PLoS ONE, Vol 10, Iss 12, p e0143613 (2015)
Unlike resting CD4+ T cells, activated CD4+T cells are highly susceptible to infection of human immunodeficiency virus 1 (HIV-1). HIV-1 infects T cells and macrophages without activating the nucleic acid sensors and the anti-viral type I interferon r
Externí odkaz:
https://doaj.org/article/d06d1f73c7034b34910f667c3dc8179b
Autor:
Maximilian Hirschenberger, Alice Lepelley, Ulrich Rupp, Susanne Klute, Victoria Hunszinger, Lennart Koepke, Veronika Merold, Blaise Didry-Barca, Fanny Wondany, Tim Bergner, Tatiana Moreau, Mathieu P. Rodero, Reinhild Rösler, Sebastian Wiese, Stefano Volpi, Marco Gattorno, Riccardo Papa, Sally-Ann Lynch, Marte G. Haug, Gunnar Houge, Kristen M. Wigby, Jessica Sprague, Jerica Lenberg, Clarissa Read, Paul Walther, Jens Michaelis, Frank Kirchhoff, Carina C. de Oliveira Mann, Yanick J. Crow, Konstantin M. J. Sparrer
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-20 (2023)
Abstract Type I interferon (IFN) signalling is tightly controlled. Upon recognition of DNA by cyclic GMP-AMP synthase (cGAS), stimulator of interferon genes (STING) translocates along the endoplasmic reticulum (ER)-Golgi axis to induce IFN signalling
Externí odkaz:
https://doaj.org/article/b099f69003f848078aba66c1696bcd67
Autor:
Bastien Rioux, Rosie Walker, Michael Chong, Daniel McCartney, Sarah McGlasson, Robin Brown, John McCabe, David Hunt, Kristiina Rannikmäe, Yanick J. Crow, William Whiteley
Publikováno v:
Wellcome Open Research, Vol 8 (2023)
Background Type I interferons are cytokines involved in innate immunity against viruses. Genetic disorders of type I interferon regulation are associated with a range of autoimmune and cerebrovascular phenotypes. Carriers of pathogenic variants invol
Externí odkaz:
https://doaj.org/article/0c99f038ce25436f8cc89e7b05a0fa60
Autor:
Stefania Della Vecchia, Alessandra Tessa, Rosa Pasquariello, Luis Seabra, Yanick J. Crow, Roberta Battini
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 5, p 2864 (2024)
NOTCH1-related leukoencephalopathy is a new diagnostic entity linked to heterozygous gain-of-function variants in NOTCH1 that neuroradiologically show some overlap with the inflammatory microangiopathy Aicardi-Goutières syndrome (AGS). To report a 1
Externí odkaz:
https://doaj.org/article/4d67b7220736480294da3c5d74b30253
Autor:
Elena Scaffei, Bianca Buchignani, Rosa Pasquariello, Paola Cristofani, Raffaello Canapicchi, Laura Biagi, Flavio Giordano, Emanuela De Marco, Yanick J. Crow, Roberta Battini
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Leukoencephalopathy with Calcifications and Cysts (LCC) is a rare genetic microangiopathy exclusively affecting the central nervous system caused by biallelic mutations in SNORD118. Brain magnetic resonance imaging (MRI) is often diagnostic due to th
Externí odkaz:
https://doaj.org/article/9f2169f42ea446c2a44a8bd1b2a626c0
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
The immune response to viral infection involves the recognition of pathogen-derived nucleic acids by intracellular sensors, leading to type I interferon (IFN), and downstream IFN-stimulated gene, induction. Ineffective discrimination of self from non
Externí odkaz:
https://doaj.org/article/5325358eabfe44d9bf283545de62b8cd
Autor:
Priyanka Madaan, Yashovardhan Kaushal, Priyanka Srivastava, Yanick J Crow, John H Livingston, Chirag Ahuja, Naveen Sankhyan
Publikováno v:
Madaan, P, Kaushal, Y, Srivastava, P, Crow, Y J, Livingston, J H, Ahuja, C & Sankhyan, N 2022, ' Delineating the epilepsy phenotype of NRROS-related microgliopathy: a case report and literature review ', Seizure-European Journal of Epilepsy . https://doi.org/10.1016/j.seizure.2022.06.001
Background: Negative regulator of reactive oxygen species (NRROS) related microgliopathy, a rare and recently recognized neurodegenerative condition, is caused by pathogenic variants in the NRROS gene, which plays a major role in the regulation of tr
Autor:
Marie-Louise Frémond, Marie Hully, Benjamin Fournier, Rémi Barrois, Romain Lévy, Mélodie Aubart, Martin Castelle, Delphine Chabalier, Clarisse Gins, Eugénie Sarda, Buthaina Al Adba, Sophie Couderc, Céline D’ Almeida, Claire-Marine Berat, Chloé Durrleman, Caroline Espil, Laetitia Lambert, Cécile Méni, Maximilien Périvier, Pascal Pillet, Laura Polivka, Manuel Schiff, Calina Todosi, Florence Uettwiller, Alice Lepelley, Gillian I. Rice, Luis Seabra, Sylvia Sanquer, Anne Hulin, Claire Pressiat, Lauriane Goldwirt, Vincent Bondet, Darragh Duffy, Despina Moshous, Brigitte Bader-Meunier, Christine Bodemer, Florence Robin-Renaldo, Nathalie Boddaert, Stéphane Blanche, Isabelle Desguerre, Yanick J. Crow, Bénédicte Neven
Publikováno v:
Frémond, M-L, Hully, M, Fournier, B, Barrois, R, Lévy, R, Aubart, M, Castelle, M, Chabalier, D, Gins, C, Sarda, E, Al Adba, B, Couderc, S, D'Almeida, C, Berat, C-M, Durrleman, C, Espil, C, Lambert, L, Meni, C, Perivier, M, Pillet, P, Polivka, L, Schiff, M, Todosi, C, Uettwiller, F, Lepelley, A, Rice, G I, Seabra, L, Sanquer, S, Hulin, A, Pressiat, C, Goldwirt, L, Bondet, V, Duffy, D, Moshous, D, Bader-Meunier, B, Bodemer, C, Robin-Renaldo, F, Boddaert, N, Blanche, S, Desguerre, I, Crow, Y J & Neven, B 2023, ' JAK inhibition in Aicardi-Goutières syndrome: a monocentric multidisciplinary real-world approach study ', Journal of Clinical Immunology . https://doi.org/10.1007/s10875-023-01500-z
Journal of Clinical Immunology
Journal of Clinical Immunology, 2023, ⟨10.1007/s10875-023-01500-z⟩
Journal of Clinical Immunology
Journal of Clinical Immunology, 2023, ⟨10.1007/s10875-023-01500-z⟩
The paradigm type I interferonopathy Aicardi-Goutières syndrome (AGS) is most typically characterized by severe neurological involvement. AGS is considered an immune-mediated disease, poorly responsive to conventional immunosuppression. Premised on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58d11f3ba2d92b02045d598c8be04f08
https://www.pure.ed.ac.uk/ws/files/342033048/Cohort_MAIN_R1_vDEF_Unmarked.docx
https://www.pure.ed.ac.uk/ws/files/342033048/Cohort_MAIN_R1_vDEF_Unmarked.docx