Gene Polymorphism

  • ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study
    Roberta Caorsi, Federica Penco, Alice Grossi, Antonella Insalaco, Alessia Omenetti, Maria Alessio, Giovanni Conti, Federico Marchetti, Paolo Picco, Alberto Tommasini, Silvana Martino, Clara Malattia, Romina Gallizi, Rosa Anna Podda, Annalisa Salis, Fernanda Falcini, Francesca Schena, Francesca Garbarino, Alessia Morreale, Manuela Pardeo, Claudia Ventrici, Chiara Passarelli, Qing Zhou, Mariasavina Severino, Carlo Gandolfo, Gianluca Damonte, Alberto Martini, Angelo Ravelli, Ivona Aksentijevich, Isabella Ceccherini, Marco Gattorno
  • Multiomic disease signatures converge to cytotoxic CD8 T cells in primary Sjögren’s syndrome
    Shinya Tasaki, Katsuya Suzuki, Ayumi Nishikawa, Yoshiaki Kassai, Maiko Takiguchi, Rina Kurisu, Yuumi Okuzono, Takahiro Miyazaki, Masaru Takeshita, Keiko Yoshimoto, Hidekata Yasuoka, Kunihiro Yamaoka, Kazuhiro Ikeura, Kazuyuki Tsunoda, Rimpei Morita, Akihiko Yoshimura, Hiroyoshi Toyoshiba, Tsutomu Takeuchi
  • Radiographic endophenotyping in hip osteoarthritis improves the precision of genetic association analysis
    Kalliope Panoutsopoulou, Shankar Thiagarajah, Eleni Zengini, Aaron G Day-Williams, Yolande FM Ramos, Jennifer MTA Meessen, Kasper Huetink, Rob GHH Nelissen, Lorraine Southam, N William Rayner, arcOGEN Consortium, Michael Doherty, Ingrid Meulenbelt, Eleftheria Zeggini, J Mark Wilkinson
  • Mitochondrial DNA haplogroups influence the risk of incident knee osteoarthritis in OAI and CHECK cohorts. A meta-analysis and functional study
    Mercedes Fernández-Moreno, Angel Soto-Hermida, María E Vázquez-Mosquera, Estefanía Cortés-Pereira, Sara Relaño, Tamara Hermida-Gómez, Sonia Pértega, Natividad Oreiro-Villar, Carlos Fernández-López, Rafael Garesse, Francisco J Blanco, Ignacio Rego-Pérez
  • Transethnic meta-analysis identifies GSDMA and PRDM1 as susceptibility genes to systemic sclerosis
    Chikashi Terao, Takahisa Kawaguchi, Philippe Dieude, John Varga, Masataka Kuwana, Marie Hudson, Yasushi Kawaguchi, Marco Matucci-Cerinic, Koichiro Ohmura, Gabriela Riemekasten, Aya Kawasaki, Paolo Airo, Tetsuya Horita, Akira Oka, Eric Hachulla, Hajime Yoshifuji, Paola Caramaschi, Nicolas Hunzelmann, Murray Baron, Tatsuya Atsumi, Paul Hassoun, Takeshi Torii, Meiko Takahashi, Yasuharu Tabara, Masakazu Shimizu, Akiko Tochimoto, Naho Ayuzawa, Hidetoshi Yanagida, Hiroshi Furukawa, Shigeto Tohma, Minoru Hasegawa, Manabu Fujimoto, Osamu Ishikawa, Toshiyuki Yamamoto, Daisuke Goto, Yoshihide Asano, Masatoshi Jinnin, Hirahito Endo, Hiroki Takahashi, Kazuhiko Takehara, Shinichi Sato, Hironobu Ihn, Soumya Raychaudhuri, Katherine Liao, Peter Gregersen, Naoyuki Tsuchiya, Valeria Riccieri, Inga Melchers, Gabriele Valentini, Anne Cauvet, Maria Martinez, Tsuneyo Mimori, Fumihiko Matsuda, Yannick Allanore
  • Mitochondrial DNA haplogroups and ageing mechanisms in osteoarthritis
    Ana M Valdes, Mary B Goldring
  • GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes
    Akiyoshi Nakayama, Hirofumi Nakaoka, Ken Yamamoto, Masayuki Sakiyama, Amara Shaukat, Yu Toyoda, Yukinori Okada, Yoichiro Kamatani, Takahiro Nakamura, Tappei Takada, Katsuhisa Inoue, Tomoya Yasujima, Hiroaki Yuasa, Yuko Shirahama, Hiroshi Nakashima, Seiko Shimizu, Toshihide Higashino, Yusuke Kawamura, Hiraku Ogata, Makoto Kawaguchi, Yasuyuki Ohkawa, Inaho Danjoh, Atsumi Tokumasu, Keiko Ooyama, Toshimitsu Ito, Takaaki Kondo, Kenji Wakai, Blanka Stiburkova, Karel Pavelka, Lisa K Stamp, Nicola Dalbeth, , Yutaka Sakurai, Hiroshi Suzuki, Makoto Hosoyamada, Shin Fujimori, Takashi Yokoo, Tatsuo Hosoya, Ituro Inoue, Atsushi Takahashi, Michiaki Kubo, Hiroshi Ooyama, Toru Shimizu, Kimiyoshi Ichida, Nariyoshi Shinomiya, Tony R Merriman, Hirotaka Matsuo
  • Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications
    Michael J Ombrello, Victoria L Arthur, Elaine F Remmers, Anne Hinks, Ioanna Tachmazidou, Alexei A Grom, Dirk Foell, Alberto Martini, Marco Gattorno, Seza Özen, Sampath Prahalad, Andrew S Zeft, John F Bohnsack, Norman T Ilowite, Elizabeth D Mellins, Ricardo Russo, Claudio Len, Maria Odete E Hilario, Sheila Oliveira, Rae S M Yeung, Alan M Rosenberg, Lucy R Wedderburn, Jordi Anton, Johannes-Peter Haas, Angela Rosen-Wolff, Kirsten Minden, Klaus Tenbrock, Erkan Demirkaya, Joanna Cobb, Elizabeth Baskin, Sara Signa, Emily Shuldiner, Richard H Duerr, Jean-Paul Achkar, M Ilyas Kamboh, Kenneth M Kaufman, Leah C Kottyan, Dalila Pinto, Stephen W Scherer, Marta E Alarcón-Riquelme, Elisa Docampo, Xavier Estivill, Ahmet Gül, British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study Group, Inception Cohort of Newly Diagnosed Patients with Juvenile Idiopathic Arthritis (ICON-JIA) Study Group, Childhood Arthritis Prospective Study (CAPS) Group, Randomized Placebo Phase Study of Rilonacept in sJIA (RAPPORT) Investigators, Sparks-Childhood Arthritis Response to Medication Study (CHARMS) Group, Biologically Based Outcome Predictors in JIA (BBOP) Group, Carl D Langefeld, Susan Thompson, Eleftheria Zeggini, Daniel L Kastner, Patricia Woo, Wendy Thomson
  • Fine-mapping the MHC locus in juvenile idiopathic arthritis (JIA) reveals genetic heterogeneity corresponding to distinct adult inflammatory arthritic diseases
    A Hinks, J Bowes, J Cobb, H C Ainsworth, M C Marion, M E Comeau, M Sudman, B Han, Juvenile Arthritis Consortium for Immunochip, M L Becker, J F Bohnsack, P I W de Bakker, J P Haas, M Hazen, D J Lovell, P A Nigrovic, E Nordal, M Punnaro, A M Rosenberg, M Rygg, S L Smith, C A Wise, V Videm, L R Wedderburn, A Yarwood, R S M Yeung, S Prahalad, C D Langefeld, S Raychaudhuri, S D Thompson, W Thomson
  • Cell-specific epigenome-wide DNA methylation profile in long-term cultured minor salivary gland epithelial cells from patients with Sjögren's syndrome
    Amandine Charras, Orsia D Konsta, Christelle Le Dantec, Cristina Bagacean, Efstathia K Kapsogeorgou, Athanasios G Tzioufas, Jacques-Olivier Pers, Anne Bordron, Yves Renaudineau

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