Genome-Wide Copy Number Variation Scan Identifies Complement Component C4 as Novel Susceptibility Gene for Crohnʼs Disease

Autor: Caroline Robberecht, Edouard Louis, Severine Vermeire, Denis Franchimont, Joris Vermeesch, Peter Konings, Debby Laukens, Yves Moreau, I. Arijs, Martine De Vos, Paul Rutgeerts, Leila Amininejad, Michel Georges, Isabelle Cleynen, Kristel Van Steen, Emilie Théâtre, Kathleen Machiels

Publikováno v: Inflammatory Bowel Diseases. 22:505-515

Background: The genetic component of Crohn's disease (CD) is well known, with 140 susceptibility loci identified so far. In addition to single nucleotide polymorphisms typically studied in genome-wide scans, copy number variation is responsible for a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5de2d66212b94545ad569a97f5c3f3c
https://doi.org/10.1097/mib.0000000000000623

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A

Autor: Fritz Zimprich, Paulo Costa, Berta Martins da Silva, Felix Rosenow, Hans-Henrik M. Dahl, Costin Leu, Thomas Dorn, Jan Novy, Jörg Hansen, Colin P. Doherty, Wolfram S. Kunz, Colin Smith, Daniah Trabzuni, Norman Delanty, Marec von Lehe, Hakon Hakonarson, Bernhard J. Steinhoff, Kerstin Hallmann, Susan Duncan, Ingmar Blümcke, Michael E. Weale, Terence J. O'Brien, Anne-Mari Kantanen, Kai Eriksson, Ingrid E. Scheffer, Karl Rössler, Elisabeth Stögmann, Pierre N. E. De Graan, Pasquale Striano, Anna Tostevin, Michael S. Hildebrand, Hajo M. Hamer, Dominik Zumsteg, António Martins da Silva, Russell J. Buono, Ellen V. S. Hessel, Slavé Petrovski, Felicitas Becker, Michael R. Sperling, Angela Robbiano, Massimo Pandolfo, Federico Zara, Bobby P. C. Koeleman, Michael Buchfelder, Ursula Gruber-Sedlmayr, Philipp S. Reif, Gianpiero L. Cavalleri, Adaikalavan Ramasamy, Roberta Paravidino, K. Meng Tan, Samuel F. Berkovic, Bárbara Leal, Katja Kobow, Mar Matarin, João Chaves, Emilie Théâtre, Mina Ryten, Holger Lerche, Claudia B. Catarino, Reetta Kälviäinen, Eva M. Reinthaler, Roland Coras, Yvonne G. Weber, Kurt Schlachter, Sanjay M. Sisodiya, Susanne Schoch, Saud Alhusaini, Albert J. Becker, Chantal Depondt, Dalia Kasperavičiūtė, Günter Krämer

Publikováno v: Brain, 136
Brain; Vol 136
Kasperaviciute, D, Catarino, C B, Matarin, M, Leu, C, Novy, J, Tostevin, A, Leal, B, Hessel, E V S, Hallmann, K, Hildebrand, M S, Dahl, H-H M, Ryten, M, Trabzuni, D, Ramasamy, A, Alhusaini, S, Doherty, C P, Dorn, T, Hansen, J, Krämer, G, Steinhoff, B J, Zumsteg, D, Duncan, S, Kälviäinen, R K, Eriksson, K J, Kantanen, A-M, Pandolfo, M, Gruber-Sedlmayr, U, Schlachter, K, Reinthaler, E M, Stogmann, E, Zimprich, F, Théâtre, E, Smith, C, O'Brien, T J, Meng Tan, K, Petrovski, S, Robbiano, A, Paravidino, R, Zara, F, Striano, P, Sperling, M R, Buono, R J, Hakonarson, H, Chaves, J, Costa, P P, Silva, B M, da Silva, A M, de Graan, P N E & Koeleman, B P C & Becker, A 2013, ' Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A ', Brain, vol. 136, no. Pt 10, pp. 3140-50 . https://doi.org/10.1093/brain/awt233

Epilepsy comprises several syndromes, amongst the most common being mesial temporal lobe epilepsy with hippocampal sclerosis. Seizures in mesial temporal lobe epilepsy with hippocampal sclerosis are typically drug-resistant, and mesial temporal lobe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e66577c0ac955ad76f00de0e295a1776
https://hdl.handle.net/10400.18/2206

Dual-Specificity Phosphatase 3 Deficiency or Inhibition Limits Platelet Activation and Arterial Thrombosis

Autor: Michel Moutschen, Souad Rahmouni, Cécile Oury, Johan W. M. Heemskerk, William Guilmain, Justin Rascon, Hongbin Yuan, Eduard Sergienko, Tomas Mustelin, Pierre Drion, Emilie Théâtre, Karen Gilio, Christelle Lecut, Russell Dahl, Yalda Mostofi, Yotis A. Senis, Johannes A. Eble, Patrizio Lancellotti, Marijke J.E. Kuijpers, Thomas D.Y. Chung, Lucia Musumeci, Lutz Tautz, Catia V Diogo, Maud Vandereyken, Lisbeth Maurissen, Alexandre Hego, Ekaterina V. Bobkova, Marc Thiry

Publikováno v: Circulation, 131(7), 656-U194. LIPPINCOTT WILLIAMS & WILKINS

Background— A limitation of current antiplatelet therapies is their inability to separate thrombotic events from bleeding occurrences. A better understanding of the molecular mechanisms leading to platelet activation is important for the developmen

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https://doi.org/10.1161/circulationaha.114.010186

P653 Genetic predictors of non reversible tissue damage in inflammatory bowel disease

Autor: Emilie Théâtre, Catherine Reenaers, O. Dewit, Edouard Louis, J.M. Mahachie John, J.M. Benitez, M. De Vos, K. Van Steen

Publikováno v: Journal of Crohn's and Colitis. 8:S343

P653 Genetic predictors of non reversible tissue damage in inflammatory bowel disease J.M. Benitez1 *, J.M. Mahachie John2, E. Theâtre3, C. Reenaers3, M. De Vos4, O. Dewit5, K. Van Steen2, E. Louis3. 1Reina Sofia University Hospital, IMIBIC, CHU Lie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::db891396cad1ed0ba2362f81228a4080
https://doi.org/10.1016/s1873-9946(14)60772-8

CCDC88B is required for pathogenesis of inflammatory bowel disease

Autor: Nassima Fodil, Neda Moradin, Vicki Leung, Jean-Frederic Olivier, Irena Radovanovic, Thiviya Jeyakumar, Manuel Flores Molina, Ashley McFarquhar, Romain Cayrol, Dominique Bozec, Naglaa H. Shoukry, Michiaki Kubo, Julia Dimitrieva, Edouard Louis, Emilie Theatre, Stephanie Dahan, Yukihide Momozawa, Michel Georges, Garabet Yeretssian, Philippe Gros

Publikováno v: Nature Communications, Vol 8, Iss 1, Pp 1-12 (2017)

Hook-related protein family member CCDC88b is encoded by a locus that has been associated with inflammatory bowel disease. Here the authors show that Ccdc88b inactivation in T cells prevents colitis in a transfer model, and detect high colonic levels

Externí odkaz: https://doaj.org/article/1ef769869ff946e8995e6d2e8381e531