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Tumor necrosis factor receptor I from patients with tumor necrosis factor receptor-associated periodic syndrome interacts with wild-type tumor necrosis factor receptor I and induces ligand-independent NF-κB activation

Autor: R. Mirakian, Nasim Yousaf, Michael F. McDermott, Graham A. Hitman, Yuti Chernajovsky, L. J. Hammond, Mark D. Turner, David Gould, Ebun Aganna

Publikováno v: Arthritis & Rheumatism. 52:2906-2916

Objective To investigate the molecular consequences of expressing mutated forms of tumor necrosis factor receptor I (TNFRI) as found in patients with TNFR-associated periodic syndrome (TRAPS). Methods We cloned and expressed full-length wild-type (WT

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc9aaddc3bc4a76060c82128a06feb04
https://doi.org/10.1002/art.21268

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Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra

Autor: Michael F. McDermott, Ebun Aganna, Helen J. Lachmann, Philip N. Hawkins

Publikováno v: Arthritis & Rheumatism. 50:607-612

Objective Mutations in the NALP3/CIAS1/PYPAF1 gene are associated with the autoinflammatory diseases Muckle-Wells syndrome (MWS), familial cold autoinflammatory syndrome (FCAS), and neonatal-onset multisystem inflammatory disease (NOMID), which is al

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::847d3265053d453aee98fd2bcec2f94e
https://doi.org/10.1002/art.20033

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Infevers: An evolving mutation database for auto-inflammatory syndromes

Autor: Ebun Aganna, Isabelle Touitou, Jacques Demaille, Michael F. McDermott, Nitza G. Shoham, Suzanne Lesage, Carol Wise, Denis Pugnère, Laurence Cuisset, Hal Hoffman, Jean-Pierre Hugot, Cyril Sarrauste De Menthiere, Hans R. Waterham, Catherine Dodé

Publikováno v: Human mutation, 24(3), 194-198. Wiley-Liss Inc.

The Infevers database (http://fmf.igh.cnrs-fr/infevers/) was established in 2002 to provide investigators with access to a central source of information about all sequence variants associated with periodic fevers: Familial Mediterranean fever (IMF),

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21d7a1b2a33148cf1374668ac24e1f70
https://doi.org/10.1002/humu.20080

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Circulating MMP9, vitamin D and variation in the TIMP-1 response with VDR genotype: mechanisms for inflammatory damage in chronic disorders?

Autor: Peter Mills, Barbara J. Boucher, Kate Noonan, Graham A. Hitman, Peter Timms, Denise Syndercombe-Court, N. Mannan, Christopher P Price, Ebun Aganna

Publikováno v: QJM. 95:787-796

Background: Vitamin‐D deficiency and vitamin‐D receptor genotype (VDR) are risk factors for several disorders with inflammatory components, including coronary heart disease (CHD) and diabetes, though the mechanisms involved are unclear. Aim: To e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03d0798405f1920c27f85d820cd4e9a7
https://doi.org/10.1093/qjmed/95.12.787

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An Israeli Arab patient with a de novoTNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome

Autor: Lina Basel-Vanagaite, Graham A. Hitman, Avraham Zeharia, Denise Syndercombe-Court, Ebun Aganna, C.R. Thacker, Rebecca Allotey, Philip N. Hawkins, David R. Booth, Michael F. McDermott

Publikováno v: Arthritis & Rheumatism. 46:245-249

Objective To investigate genetic susceptibility to recurrent fevers, generalized severe myalgia, and migratory erythema in an Israeli Arab child with no family history of similar disease. Methods DNA sequencing of exons 1–6 of the TNFRSF1A gene (fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9df84eca8d6ccbf7c1b5338ccf2deb30
https://doi.org/10.1002/1529-0131(200201)46:1<245::aid-art10038>3.0.co

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Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance

Autor: Egbert Jk Zweers, Ivona Aksentijevich, Graham A. Hitman, Daniel L. Kastner, Fokke D Posma, Ebun Aganna, Michael F. McDermott, Andy I. M. Hoepelman

Publikováno v: European Journal of Human Genetics. 9:63-66

Mutations of the tumor necrosis factor receptor 1 (TNFRSF1A) gene underly susceptibility to a subset of autosomal dominant recurrent fevers (ADRFs). We report on a two-generation six-member Dutch family in which a novel R92P mutation and reduced plas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b63657c21dff9dae252448161e742096
https://doi.org/10.1038/sj.ejhg.5200573

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Pancreatitis in fibrocalculous pancreatic diabetes mellitus is not associated with common mutations in the trypsinogen gene

Autor: Michael F. McDermott, Graham A. Hitman, Liaquat Ali, A.K.Azad Khan, Ebun Aganna, Viswanathan Mohan, Paul G. Cassell, Raj Deepa, W Ogunkolade, Zahid Hassan

Publikováno v: Diabetes/Metabolism Research and Reviews. 16:454-457

Background A distinct type of pancreatitis associated with diabetes, termedﬁbrocalculous pancreatic diabetes (FCPD), has been reported in tropicaldeveloping countries including Bangladesh. The molecular basis forautosomal dominant hereditary pancre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::07941838ac934ace4eacbb60e455baa4
https://doi.org/10.1002/1520-7560(2000)9999:9999<::aid-dmrr155>3.0.co

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Allelic variation in the vitamin D receptor influences susceptibility to IDDM in Indian Asians

Autor: Graham A. Hitman, Michael F. McDermott, David Curtis, A. Ramachandran, Chamukuttan Snehalatha, Barbara J. Boucher, B W Ogunkolade, Ebun Aganna

Publikováno v: Diabetologia. 40:971-975

Vitamin D has important immunomodulatory properties and prevents development of diabetes mellitus in an animal model of insulin-dependent diabetes (IDDM). We have studied the vitamin D receptor locus as a candidate for genetic susceptibility to IDDM

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be9d682a00e590b6c6ab009c072aef89
https://doi.org/10.1007/s001250050776

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