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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 1
2004 2
2005 2
2006 14
2007 21
2008 16
2009 46
2010 45
2011 55
2012 47
2013 54
2014 62
2015 62
2016 58
2017 84
2018 92
2019 51
2020 1
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613 results
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Page 1
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Rodriguez D, Roubertie A, Salvatici E, Segers KA, Sinha GP, Soler D, Spiegel R, Stödberg TI, Straussberg R, Swoboda KJ, Suri M, Tacke U, Tan TY, te Water Naude J, Wee Teik K, Thomas MM, Till M, Tonduti D, Valente EM, Van Coster RN, van der Knaap MS, Vassallo G, Vijzelaar R, Vogt J, Wallace GB, Wassmer E, Webb HJ, Whitehouse WP, Whitney RN, Zaki MS, Zuberi SM, Livingston JH, Rozenberg F, Lebon P, Vanderver A, Orcesi S, Rice GI. Crow YJ, et al. Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16. Am J Med Genet A. 2015. PMID: 25604658 Free PMC article.
Mitochondrial double-stranded RNA triggers antiviral signalling in humans.
Dhir A, Dhir S, Borowski LS, Jimenez L, Teitell M, Rötig A, Crow YJ, Rice GI, Duffy D, Tamby C, Nojima T, Munnich A, Schiff M, de Almeida CR, Rehwinkel J, Dziembowski A, Szczesny RJ, Proudfoot NJ. Dhir A, et al. Nature. 2018 Aug;560(7717):238-242. doi: 10.1038/s41586-018-0363-0. Epub 2018 Jul 25. Nature. 2018. PMID: 30046113 Free PMC article.
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
Rice GI, Del Toro Duany Y, Jenkinson EM, Forte GM, Anderson BH, Ariaudo G, Bader-Meunier B, Baildam EM, Battini R, Beresford MW, Casarano M, Chouchane M, Cimaz R, Collins AE, Cordeiro NJ, Dale RC, Davidson JE, De Waele L, Desguerre I, Faivre L, Fazzi E, Isidor B, Lagae L, Latchman AR, Lebon P, Li C, Livingston JH, Lourenço CM, Mancardi MM, Masurel-Paulet A, McInnes IB, Menezes MP, Mignot C, O'Sullivan J, Orcesi S, Picco PP, Riva E, Robinson RA, Rodriguez D, Salvatici E, Scott C, Szybowska M, Tolmie JL, Vanderver A, Vanhulle C, Vieira JP, Webb K, Whitney RN, Williams SG, Wolfe LA, Zuberi SM, Hur S, Crow YJ. Rice GI, et al. Nat Genet. 2014 May;46(5):503-509. doi: 10.1038/ng.2933. Epub 2014 Mar 30. Nat Genet. 2014. PMID: 24686847 Free PMC article.
ADAR1: A New Target for Immuno-oncology Therapy.
Bhate A, Sun T, Li JB. Bhate A, et al. Mol Cell. 2019 Mar 7;73(5):866-868. doi: 10.1016/j.molcel.2019.02.021. Mol Cell. 2019. PMID: 30849393 Free article.
Cutaneous Ulcerations in Anti-MDA5 Dermatomyositis.
Charrow A, Vleugels RA. Charrow A, et al. N Engl J Med. 2019 Aug 1;381(5):465. doi: 10.1056/NEJMicm1816147. N Engl J Med. 2019. PMID: 31365803 No abstract available.
Type I interferon-mediated autoinflammation and autoimmunity.
Kretschmer S, Lee-Kirsch MA. Kretschmer S, et al. Curr Opin Immunol. 2017 Dec;49:96-102. doi: 10.1016/j.coi.2017.09.003. Epub 2017 Nov 10. Curr Opin Immunol. 2017. PMID: 29128691 Review.
Anti-MDA5 Antibody Spectrum in Western World.
Moghadam-Kia S, Oddis CV, Aggarwal R. Moghadam-Kia S, et al. Curr Rheumatol Rep. 2018 Oct 31;20(12):78. doi: 10.1007/s11926-018-0798-1. Curr Rheumatol Rep. 2018. PMID: 30382445 Review.
Clinical significance of myositis-specific autoantibody profiles in Japanese patients with polymyositis/dermatomyositis.
Temmoku J, Sato S, Fujita Y, Asano T, Suzuki E, Kanno T, Furuya MY, Matsuoka N, Kobayashi H, Watanabe H, Koga T, Shimizu T, Kawakami A, Migita K. Temmoku J, et al. Medicine (Baltimore). 2019 May;98(20):e15578. doi: 10.1097/MD.0000000000015578. Medicine (Baltimore). 2019. PMID: 31096460 Free PMC article. Clinical Trial.
[Dermatomyositis and Autoantibodies].
Fujimoto M. Fujimoto M. Brain Nerve. 2018 Apr;70(4):427-438. doi: 10.11477/mf.1416201015. Brain Nerve. 2018. PMID: 29632290 Review. Japanese.
613 results
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