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There are 13816 results for: content related to: Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene

  1. You have free access to this content
    Myosin-driven rescue of contractile reserve and energetics in mouse hearts bearing familial hypertrophic cardiomyopathy-associated mutant troponin T is mutation-specific

    The Journal of Physiology

    Volume 590, Issue 21, November 2012, Pages: 5371–5388, Huamei He, Kirsten Hoyer, Hai Tao, Ronald Rice, Jesus Jimenez, Jil C. Tardiff and Joanne S. Ingwall

    Version of Record online : 4 OCT 2012, DOI: 10.1113/jphysiol.2012.234252

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    Late-onset tumor necrosis factor receptor–associated periodic syndrome in multiple sclerosis patients carrying the TNFRSF1A R92Q mutation

    Arthritis & Rheumatism

    Volume 56, Issue 8, August 2007, Pages: 2774–2783, Tania Kümpfel, Lisa-Ann Hoffmann, Heike Rübsamen, Walter Pöllmann, Wolfgang Feneberg, Reinhard Hohlfeld and Peter Lohse

    Version of Record online : 30 JUL 2007, DOI: 10.1002/art.22795

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    Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor–induced apoptosis: Pathogenetic and clinical implications

    Arthritis & Rheumatism

    Volume 54, Issue 3, March 2006, Pages: 998–1008, Andrea D'Osualdo, Francesca Ferlito, Ignazia Prigione, Laura Obici, Antonella Meini, Francesco Zulian, Alessandra Pontillo, Fabrizia Corona, Roberto Barcellona, Marco Di Duca, Giuseppe Santamaria, Francesco Traverso, Paolo Picco, Maurizia Baldi, Alessandro Plebani, Roberto Ravazzolo, Isabella Ceccherini, Alberto Martini and Marco Gattorno

    Version of Record online : 28 FEB 2006, DOI: 10.1002/art.21657

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    Role of tumour necrosis factor (TNF)-α and TNFRSF1A R92Q mutation in the pathogenesis of TNF receptor-associated periodic syndrome and multiple sclerosis

    Clinical & Experimental Immunology

    Volume 166, Issue 3, December 2011, Pages: 338–345, A. Caminero, M. Comabella and X. Montalban

    Version of Record online : 8 NOV 2011, DOI: 10.1111/j.1365-2249.2011.04484.x

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    Association of the R92Q TNFRSF1A mutation and extracranial deep vein thrombosis in patients with Behçet's disease

    Arthritis & Rheumatism

    Volume 52, Issue 2, February 2005, Pages: 608–611, Zahir Amoura, Catherine Dodé, Sophie Hue, Sophie Caillat-Zucman, Seiamak Bahram, Marc Delpech, Gilles Grateau, Bertrand Wechsler and Jean-Charles Piette

    Version of Record online : 3 FEB 2005, DOI: 10.1002/art.20873

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    Modeling of tumor necrosis factor receptor superfamily 1A mutants associated with tumor necrosis factor receptor–associated periodic syndrome indicates misfolding consistent with abnormal function

    Arthritis & Rheumatism

    Volume 54, Issue 8, August 2006, Pages: 2674–2687, Susana L. Rebelo, Susan E. Bainbridge, Mohammad R. Amel-Kashipaz, Paul M. Radford, Richard J. Powell, Ian Todd and Patrick J. Tighe

    Version of Record online : 26 JUL 2006, DOI: 10.1002/art.21964

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    Cardiac troponin T mutations: correlation between the type of mutation and the nature of myofilament dysfunction in transgenic mice

    The Journal of Physiology

    Volume 536, Issue 2, October 2001, Pages: 583–592, David E. Montgomery, Jil C. Tardiff and Murali Chandra

    Version of Record online : 5 AUG 2004, DOI: 10.1111/j.1469-7793.2001.0583c.xd

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    Role of the R92Q TNFRSF1A mutation in patients with familial Mediterranean Fever

    Arthritis Care & Research

    Volume 62, Issue 9, September 2010, Pages: 1294–1298, Dina Marek-Yagel, Yackov Berkun, Shai Padeh, Merav Lidar, Yael Shinar, Ifat Bar-Joseph, Haike Reznik-Wolf, Pnina Langevitz, Avi Livneh and Elon Pras

    Version of Record online : 2 SEP 2010, DOI: 10.1002/acr.20213

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    The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor–associated periodic syndrome

    Arthritis & Rheumatism

    Volume 46, Issue 8, August 2002, Pages: 2181–2188, Catherine Dodé, Marc André, Thierry Bienvenu, Pierre Hausfater, Christophe Pêcheux, Jacques Bienvenu, Jean-Claude Lecron, Philippe Reinert, Daniel Cattan, Jean-Charles Piette, Marie-France Szajnert, Marc Delpech, Gilles Grateau and French Hereditary Recurrent Inflammatory Disorder Study Group

    Version of Record online : 9 AUG 2002, DOI: 10.1002/art.10429

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    Abnormal tumor necrosis factor receptor I cell surface expression and NF-κB activation in tumor necrosis factor receptor–associated periodic syndrome

    Arthritis & Rheumatism

    Volume 58, Issue 1, January 2008, Pages: 273–283, Belinda Nedjai, Graham A. Hitman, Nasim Yousaf, Yuti Chernajovsky, Susanna Stjernberg-Salmela, Tom Pettersson, Annamari Ranki, Philip N. Hawkins, Peter D. Arkwright, Michael F. McDermott and Mark D. Turner

    Version of Record online : 28 DEC 2007, DOI: 10.1002/art.23123

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    Heterogeneity among patients with tumor necrosis factor receptor–associated periodic syndrome phenotypes

    Arthritis & Rheumatism

    Volume 48, Issue 9, September 2003, Pages: 2632–2644, Ebun Aganna, Linda Hammond, Philip N. Hawkins, Anna Aldea, Shane A. McKee, Hans Kristian Ploos van Amstel, Claudia Mischung, Koichi Kusuhara, Frank T. Saulsbury, Helen J. Lachmann, Alison Bybee, Elizabeth M. McDermott, Micaela La Regina, Juan I. Arostegui, Josep M. Campistol, Sharron Worthington, Kevin P. High, Michael G. Molloy, Nicholas Baker, Jeff L. Bidwell, José L. Castañer, Margo L. Whiteford, P. L. Janssens-Korpola, Raffaele Manna, Richard J. Powell, Patricia Woo, Pilar Solis, Kirsten Minden, Joost Frenkel, Jordi Yagüe, Rita M. Mirakian, Graham A. Hitman and Michael F. McDermott

    Version of Record online : 11 SEP 2003, DOI: 10.1002/art.11215

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    Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: A low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa

    Arthritis & Rheumatism

    Volume 50, Issue 6, June 2004, Pages: 1951–1958, Silvia Stojanov, Peter Lohse, Pia Lohse, Florian Hoffmann, Ellen D. Renner, Stephanie Zellerer, Anja Kéry, Yoon S. Shin, Dorothea Haas, Georg F. Hoffmann and Bernd H. Belohradsky

    Version of Record online : 3 JUN 2004, DOI: 10.1002/art.20264

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    Novel markers of inflammation identified in tumor necrosis factor receptor–associated periodic syndrome (TRAPS) by transcriptomic analysis of effects of TRAPS-associated tumor necrosis factor receptor type I mutations in an endothelial cell line

    Arthritis & Rheumatism

    Volume 60, Issue 1, January 2009, Pages: 269–280, Susana L. Rebelo, Mohammad R. Amel-Kashipaz, Paul M. Radford, Susan E. Bainbridge, Roel Fiets, Johnny Fang, Elizabeth M. McDermott, Richard J. Powell, Ian Todd and Patrick J. Tighe

    Version of Record online : 30 DEC 2008, DOI: 10.1002/art.24147

  14. Tumour necrosis factor receptor I blockade shows that TNF-dependent and TNF-independent mechanisms synergise in TNF receptor associated periodic syndrome

    European Journal of Immunology

    Volume 45, Issue 10, October 2015, Pages: 2937–2944, Lucy C. Fairclough, A. Allart Stoop, Ola H. Negm, Paul M. Radford, Patrick J. Tighe and Ian Todd

    Version of Record online : 17 AUG 2015, DOI: 10.1002/eji.201545769

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    Mutant tumor necrosis factor receptor associated with tumor necrosis factor receptor–associated periodic syndrome is altered antigenically and is retained within patients' leukocytes

    Arthritis & Rheumatism

    Volume 56, Issue 8, August 2007, Pages: 2765–2773, Ian Todd, Paul M. Radford, Noura Daffa, Susan E. Bainbridge, Richard J. Powell and Patrick J. Tighe

    Version of Record online : 30 JUL 2007, DOI: 10.1002/art.22740

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    Shedding of mutant tumor necrosis factor receptor superfamily 1A associated with tumor necrosis factor receptor–associated periodic syndrome: Differences between cell types

    Arthritis & Rheumatism

    Volume 50, Issue 8, August 2004, Pages: 2651–2659, Mary L. Huggins, Paul M. Radford, Richard S. McIntosh, Susan E. Bainbridge, Peter Dickinson, Kelly-Ann Draper-Morgan, Patrick J. Tighe, Richard J. Powell and Ian Todd

    Version of Record online : 5 AUG 2004, DOI: 10.1002/art.20380

  17. Association of TNFAIP3 and TNFRSF1A variation with multiple sclerosis in a German case–control cohort

    International Journal of Immunogenetics

    Volume 42, Issue 2, April 2015, Pages: 106–110, S. Hoffjan, A. Okur, J. T. Epplen, S. Wieczorek, A. Chan and D. A. Akkad

    Version of Record online : 12 FEB 2015, DOI: 10.1111/iji.12183

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    Emerging clinical spectrum of tumor necrosis factor receptor–associated periodic syndrome: Comment on the articles by Hull et al and Dodé et al

    Arthritis & Rheumatism

    Volume 48, Issue 6, June 2003, Pages: 1768–1769, E. Drewe, P. C. Lanyon and R. J. Powell

    Version of Record online : 3 JUN 2003, DOI: 10.1002/art.10981

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    Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept

    Clinical & Experimental Immunology

    Volume 130, Issue 3, December 2002, Pages: 484–488, P. D. ARKWRIGHT, M. F. MCDERMOTT, S. M. HOUTEN, J. FRENKEL, H. R. WATERHAM, E. AGANNA, L. J. HAMMOND, R. M. MIRAKIAN, P. I. TOMLIN, P. I. VIJAYDURAI and A. J. CANT

    Version of Record online : 24 NOV 2002, DOI: 10.1046/j.1365-2249.2002.02002.x

  20. Clinical and genetic features of patients with TNFRSF1A variants in Japan: Findings of a nationwide survey

    Arthritis & Rheumatology

    Accepted manuscript online: 22 JUN 2016, Naoyasu Ueda, Hiroaki Ida, Masakazu Washio, Hisaaki Miyahara, Shoji Tokunaga, Fumiko Tanaka, Hiroki Takahashi, Koichi Kusuhara, Koichiro Ohmura, Manabu Nakayama, Osamu Ohara, Ryuta Nishikomori, Seiji Minota, Shuji Takei, Takao Fujii, Yoshiaki Ishigatsubo, Hiroshi Tsukamoto, Tomoko Tahira and Takahiko Horiuchi

    DOI: 10.1002/art.39793