Human Genome Epidemiology Literature Finder
Records 1 - 28 (of 28 Records) |
Query Trace: Q Fever and NLRP3[original query] |
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Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis. Arthritis and rheumatism 2008 Jul 58 (7): 2142-6. Day T G, Ramanan A V, Hinks A, Lamb R, Packham J, Wise C, Punaro M, Donn R |
Gene polymorphisms in the NALP3 inflammasome are associated with interleukin-1 production and severe inflammation: relation to common inflammatory diseases? Arthritis and rheumatism 2008 Mar 58 (3): 888-94. Verma Deepti, Lerm Maria, Blomgran Julinder Robert, Eriksson Per, Söderkvist Peter, Särndahl E |
Genetic variation in the familial Mediterranean fever gene (MEFV) and risk for Crohn's disease and ulcerative colitis. PloS one 2009 4 (9): e7154. Villani Alexandra-Chloé, Lemire Mathieu, Louis Edouard, Silverberg Mark S, Collette Catherine, Fortin Geneviève, Nimmo Elaine R, Renaud Yannick, Brunet Sébastien, Libioulle Cécile, Belaiche Jacques, Bitton Alain, Gaudet Daniel, Cohen Albert, Langelier Diane, Rioux John D, Arnott Ian D R, Wild Gary E, Rutgeerts Paul, Satsangi Jack, Vermeire Séverine, Hudson Thomas J, Franchimont Den |
MEFV, TNF1rA, CARD15 and NLRP3 mutation analysis in PFAPA. Rheumatology international 2010 Mar 30 (5): 633-6. Dagan Efrat, Gershoni-Baruch Ruth, Khatib Ihab, Mori Adi, Brik Ri |
Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France. Annals of the rheumatic diseases 2011 Mar 70 (3): 495-9. Cuisset L, Jeru I, Dumont B, Fabre A, Cochet E, Le Bozec J, Delpech M, Amselem S, Touitou I, |
Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome is linked to dysregulated monocyte IL-1ß production. The Journal of allergy and clinical immunology 2013 Jun 131 (6): 1635-43. Kolly Laeticia, Busso Nathalie, von Scheven-Gete Annette, Bagnoud Nathaliane, Moix Isabelle, Holzinger Dirk, Simon Gregoire, Ives Annette, Guarda Greta, So Alexander, Morris Michael A, Hofer Micha |
Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease. Proceedings of the National Academy of Sciences of the United States of America 2013 May 110 (20): 8134-9. Kirino Yohei, Zhou Qing, Ishigatsubo Yoshiaki, Mizuki Nobuhisa, Tugal-Tutkun Ilknur, Seyahi Emire, Özyazgan Yilmaz, Ugurlu Serdal, Erer Burak, Abaci Neslihan, Ustek Duran, Meguro Akira, Ueda Atsuhisa, Takeno Mitsuhiro, Inoko Hidetoshi, Ombrello Michael J, Satorius Colleen L, Maskeri Baishali, Mullikin James C, Sun Hong-Wei, Gutierrez-Cruz Gustavo, Kim Yoonhee, Wilson Alexander F, Kastner Daniel L, Gül Ahmet, Remmers Elaine |
Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature. Arthritis research & therapy 2013 15 (1): R30. Rowczenio Dorota M, Trojer Hadija, Russell Tonia, Baginska Anna, Lane Thirusha, Stewart Nicola M, Gillmore Julian D, Hawkins Philip N, Woo Patricia, Mikoluc Bozena, Lachmann Helen |
Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry. Annals of the rheumatic diseases 2014 Jul . Levy R, Gérard L, Kuemmerle-Deschner J, Lachmann H J, Koné-Paut I, Cantarini L, Woo P, Naselli A, Bader-Meunier B, Insalaco A, Al-Mayouf S M, Ozen S, Hofer M, Frenkel J, Modesto C, Nikishina I, Schwarz T, Martino S, Meini A, Quartier P, Martini A, Ruperto N, Neven B, Gattorno M, |
Control of the innate immune response by the mevalonate pathway. Nature immunology 2016 Jun . Akula Murali K, Shi Man, Jiang Zhaozhao, Foster Celia E, Miao David, Li Annie S, Zhang Xiaoman, Gavin Ruth M, Forde Sorcha D, Germain Gail, Carpenter Susan, Rosadini Charles V, Gritsman Kira, Chae Jae Jin, Hampton Randolph, Silverman Neal, Gravallese Ellen M, Kagan Jonathan C, Fitzgerald Katherine A, Kastner Daniel L, Golenbock Douglas T, Bergo Martin O, Wang Dongh |
Evidence of digenic inheritance in autoinflammation-associated genes. Journal of genetics 2016 Dec 95 (4): 761-766. Neocleous Vassos, Byrou Stefania, Toumba Meropi, Costi Constantina, Shammas Christos, Kyriakou Christina, Christophidou-Anastasiadou Violetta, Tanteles George A, Hadjipanayis Adamos, Phylactou Leonidas |
Periodic Fever with Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome Is Associated with a CARD8 Variant Unable To Bind the NLRP3 Inflammasome. Journal of immunology (Baltimore, Md. : 1950) 2017 Jan . Cheung Ming Sin, Theodoropoulou Katerina, Lugrin Jérôme, Martinon Fabio, Busso Nathalie, Hofer Micha |
Gene mutations and clinical phenotypes in 15 Chinese children with cryopyrin-associated periodic syndrome (CAPS). Science China. Life sciences 2017 12 60 (12): 1436-1444. Li Caifeng, Tan Xiaohua, Zhang Junmei, Li Shipeng, Mo Wenxiu, Han Tongxin, Kuang Weiying, Zhou Yifang, Deng Jiangho |
Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes. Rheumatology international 2017 Nov . Sighart R, Rech J, Hueber A, Blank N, Löhr S, Reis A, Sticht H, Hüffmeier |
Phenotypes and genotypes of Chinese adult patients with systemic autoinflammatory diseases. Seminars in arthritis and rheumatism 2019 6 49 (3): 446-452. Hua Yichao, Wu Di, Shen Min, Yu Keyi, Zhang Wen, Zeng Xiaofe |
Molecular genetic evaluation of NLRP3, MVK and TNFRSF1A associated periodic fever syndromes. International journal of immunogenetics 2019 5 46 (4): 232-240. Ozyilmaz Berk, Kirbiyik Ozgur, Koc Altug, Ozdemir Taha R, Kaya Ozer Ozge, Kutbay Yasar B, Erdogan Kadri M, Saka Guvenc Merve, Ozturk C |
Novel mutation in the NRLP3 manifesting as an intermediate phenotype of cryopyrinopathies. Rheumatology international 2020 8 41 (1): 219-225. Paim-Marques Luciana B, Cavalcante Amanda, Castro Catherine, Muskardin Theresa L Wampler, de Oliveira João Bosco, Niewold Timothy B, Appenzeller Simo |
Neurological phenotypes in patients with NLRP3-, MEFV-, and TNFRSF1A low-penetrance variants. Journal of neuroinflammation 2020 6 17 (1): 196. Mulazzani Elisabeth, Wagner Danny, Havla Joachim, Schlüter Miriam, Meinl Ingrid, Gerdes Lisa-Ann, Kümpfel Tan |
Diagnostic Rate of Autoinflammatory Diseases Evaluated by Fever Patterns in Pediatric- and Adult-Onset Patients. Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases 2020 Mar 26 (2): 60-62. Miyamae Takako, Hanaya Aki, Kawamoto Manabu, Tani Yumi, Kawaguchi Yasushi, Yamanaka Hisas |
NLRP3 gene variants and serum NLRP3 levels in periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome. Clinical rheumatology 2022 Sep . Kaynak Damla, Yildiz Mehmet, Sahin Sezgin, Haslak Fatih, Gunalp Aybuke, Adrovic Amra, Barut Kenan, Gunver Mehmet Guven, Kasapcopur Ozgur, Dasdemir Selc |
Next-Generation Sequencing Analysis of MVK, NLRP3, TNFRSF1A, and PSTPIP1 Genes in Patients without MEFV Gene Variation and Genotype-Phenotype Correlation. European journal of rheumatology 2022 5 9 (2): 62-67. Vuran Gamze, Berdeli Af |
Schnitzler syndrome and Schnitzler-like syndromes. Chinese medical journal 2022 1 135 (10): 1190-1202. Chu Cong-Q |
Utility of a targeted next-generation sequencing-based genetic screening panel in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome. Archives of rheumatology 2023 9 38 (2): 299-306. Rabia Miray K??la Ekinci, Özlem Anla?, Özge Öza |
Evaluation of common NLRP3 Q703K variant in pediatric patients with autoinflammatory disease: CAPS and PFAPA. The Turkish journal of pediatrics 2023 9 65 (4): 650-660. Yasemin Kendir-Demirkol, Laura A Jenny, Ferhat Demir, Betül Söze |
The phenotype and genotype of Chinese adult patients with NLRP3-associated autoinflammatory disease. Clinical rheumatology 2023 6 . Na Wu, Di Wu, Junke Miao, Mengzhu Zhao, Yi Wang, Weihong Yu, Min Sh |
Genetic and clinical features of familial mediterranean fever (FMF) in a homogeneous cohort of patients from South-Eastern Italy. European journal of internal medicine 2023 5 . Agostino Di Ciaula, Matteo Iacoviello, Leonilde Bonfrate, Mohamad Khalil, Harshitha Shanmugam, Giuseppe Lopalco, Rosanna Bagnulo, Antonella Garganese, Florenzo Iannone, Nicoletta Resta, Piero Portincasa, Alessandro Stel |
The genetic and clinical characteristics and effects of Canakinumab on cryopyrin-associated periodic syndrome: a large pediatric cohort study from China. Frontiers in immunology 2023 10 14 1267933. Zhou Shu, Yue Zhang, Tongxin Han, Yan Li, Yurong Piao, Fei Sun, Jin Ma, Wenxiu Mo, Jiapeng Sun, Koon-Wing Chan, Wanling Yang, Yu-Lung Lau, Huawei M |
Case Report: A de novo NLRP3 variant resulting in autoinflammatory disease in a Chinese newborn. Frontiers in immunology 2023 10 14 1238551. Mingyu Xie, Jingjing Wan, Xin Zheng, Xian Zou, Wanting Chen, Kanglin Zhang, Huiting Yuan, Zhenhong Zhang, Haisheng Ze |
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- Page last updated:May 06, 2024
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