Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

Autor: M Pettersson, Yannis Duffourd, Marco Tartaglia, Steven Laurie, Tobias B. Haack, Karolis Sablauskas, Andrea Ciolfi, Antonio Vitobello, Aurélien Trimouille, A Nordgren, E Lopez-Martin, A Hugon, K Vyshka, M Schwarz, M Janssen, S Li, Isabelle Nelson, S Prasanth, Christian Gilissen, Lelm Vissers, Rita Horvath, Simone Pizzi, G Casari, Leslie Matalonga, de, Boer, E, Caroline Rooryck, Siddharth Banka, Michele Pinelli, Mridul Johari, Christel Thauvin, Peter N. Robinson, M Posada, Wouter Steyaert, RJ Rodenburg, Marco Savarese, Jill Clayton-Smith, Ana Töpf, Annalaura Torella, A-S Denomme-Pichon, A Hammarsjo, Milan Macek, A Lindstrand, L Ryba, Elisa Benetti, Enzo Cohen, Birte Zurek, van, der, Velde, Jk, CW Ockeloen, D Henssen, Marketa Havlovicova, Daniel Danis, Francesca Clementina Radio, Bruno Dallapiccola, Mjh Coenen, Ida Paramonov, Tjitske Kleefstra, Laurence Faivre, Lisenka E.L.M. Vissers, I Cuesta, Alessandra Renieri, Alexander Hoischen, Alain Verloes, Adam Jackson, Nigro, Sophia Peters

Publikováno v: European Journal of Human Genetics. 29:1470-1471

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1ca165e7b2a45a2ceb534d5a840ea3c9
https://doi.org/10.1038/s41431-021-00937-3

Skewed X-chromosomal inactivation impacts T regulatory cell function in systemic sclerosis

Autor: Robert Lafyatis, L. Geurts-van Bon, Madelon C. Vonk, Anthonie Willem Langerak, Timothy R D J Radstake, Mjh Coenen, I.L.M. Wolvers-Tettero, J.C.A. Broen

Publikováno v: Journal of Translational Medicine
Journal of Translational Medicine, Vol 8, Iss Suppl 1, p O7 (2010)

OBJECTIVES: > To investigate the role of X chromosomal inactivation (XCI) in systemic sclerosis (SSc) and its effects on forkhead box P3 (Foxp3) expression in T regulatory cells (Tregs). METHODS: 217 women with SSc and 107 healthy women (controls) we

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fdc7c2ed6cfac9199319c4f49327731
https://doi.org/10.1186/1479-5876-8-s1-o7

A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with Systemic Sclerosis in a large European cohort

Autor: Patricia Carreira, Nicolas Hunzelmann, Jca Broen, Blanca Rueda, P. García de la Peña, Annemie J. Schuerwegh, Javier Martin, Jane Worthington, Carmen P. Simeon, Annika Nordin, Mjh Coenen, Ariane L. Herrick, Norberto Ortego-Centeno, Torsten Witte, Paul G. Shiels, Roger Hesselstrand, Lorenzo Beretta, María Victoria Egurbide, Alexandre E. Voskuyl, Esther Vicente-Rabaneda, J.M. van Laar, Nuria Navarrete, Øyvind Palm, E. De Langhe, M. T. Camps, Alexander Kreuter, Kathleen Claes, Vanessa Smith, Christopher P. Denton, Miguel A. Gonzalez-Gay, Carmen Fonseca, Rajan Madhok, Benedicte A. Lie, I. Gómez-Gracia, Ivan Castellví, Trdj Radstake, Bobby P. C. Koeleman, Meng May Chee, María Cruz Gallego, F De Keyser, V Follonosa, M F González-Escribano, Luis Rodriguez Rodriguez, Lara Bossini-Castillo, Frédéric Houssiau, Leonid Padykov, José Andrés Román-Ivorra, Gabriela Riemekasten, Madelon C. Vonk, A. Pros, Antonio Fernández-Nebro, Paolo Airò, C. Tolosa, Francisco J. García-Hernández, Rene Westhovens, Gerard Espinosa, Raffaella Scorza

Publikováno v: Europe PubMed Central
Journal of Translational Medicine, Vol 8, Iss Suppl 1, p P5 (2010)
Digital.CSIC. Repositorio Institucional del CSIC
instname
Journal of Translational Medicine

2 páginas.-- Póster presentado al 5º European Workshop on Immune-Mediated Inflammatory Diseases celebrado en Sitges (Barcelona, España) del 1 al 3 de Diciembre de 2010.-- et al.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c34d27fd640e9c649125a8759da38b16
http://europepmc.org/abstract/PMC/PMC3007795

Rheumatoid arthritis: a view of the current genetic landscape.

Autor: Coenen, M. J. H.¹, Gregersen, P. K.² peterg@nshs.edu

Publikováno v: Genes & Immunity. Mar2009, Vol. 10 Issue 2, p101-111. 11p. 2 Graphs, 1 Map.