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There are 10925 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
    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

    Article first published online : 26 JUL 2006, DOI: 10.1002/art.21964

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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

    Article first published 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

    Article first published 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

    Article first published 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

    Article first published online : 3 FEB 2005, DOI: 10.1002/art.20873

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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

    Article first published 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

    Article first published online : 28 DEC 2007, DOI: 10.1002/art.23123

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    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

    Article first published online : 4 OCT 2012, DOI: 10.1113/jphysiol.2012.234252

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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

    Article first published online : 2 SEP 2010, DOI: 10.1002/acr.20213

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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

    Article first published online : 11 SEP 2003, DOI: 10.1002/art.11215

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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

    Article first published online : 30 JUL 2007, DOI: 10.1002/art.22740

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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

    Article first published online : 3 JUN 2004, DOI: 10.1002/art.20264

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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

    Article first published online : 5 AUG 2004, DOI: 10.1002/art.20380

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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

    Article first published online : 24 NOV 2002, DOI: 10.1046/j.1365-2249.2002.02002.x

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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

    Article first published online : 3 JUN 2003, DOI: 10.1002/art.10981

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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

    Article first published online : 30 DEC 2008, DOI: 10.1002/art.24147

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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

    Article first published online : 5 AUG 2004, DOI: 10.1111/j.1469-7793.2001.0583c.xd

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    R92Q TNFRSF1A mutation and Behçet's disease: Comment on the article by Amoura et al

    Arthritis & Rheumatism

    Volume 52, Issue 8, August 2005, Page: 2583, Haner Direskeneli and Guher Saruhan-Direskeneli

    Article first published online : 29 JUL 2005, DOI: 10.1002/art.21279

  19. A novel Y331X nonsense mutation in TNFRSF1A gene in two unrelated Turkish families with periodic fever syndrome

    International Journal of Immunogenetics

    Volume 37, Issue 1, February 2010, Pages: 21–25, N. Kutukculer, N. Gulez, N. Karaca, G. Aksu and A. Berdeli

    Article first published online : 5 OCT 2009, DOI: 10.1111/j.1744-313X.2009.00884.x

  20. Associations of CD6, TNFRSF1A and IRF8 polymorphisms with risk of inflammatory demyelinating diseases

    Neuropathology and Applied Neurobiology

    Volume 39, Issue 5, August 2013, Pages: 519–530, T.-J. Park, H. J. Kim, J.-H. Kim, J. S. Bae, H. S. Cheong, B.-L. Park and H. D. Shin

    Article first published online : 9 JUL 2013, DOI: 10.1111/j.1365-2990.2012.01304.x