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Items: 1 to 20 of 132

1.

Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort.

Namjou B, Kothari PH, Kelly JA, Glenn SB, Ojwang JO, Adler A, Alarcón-Riquelme ME, Gallant CJ, Boackle SA, Criswell LA, Kimberly RP, Brown E, Edberg J, Stevens AM, Jacob CO, Tsao BP, Gilkeson GS, Kamen DL, Merrill JT, Petri M, Goldman RR, Vila LM, Anaya JM, Niewold TB, Martin J, Pons-Estel BA, Sabio JM, Callejas JL, Vyse TJ, Bae SC, Perrino FW, Freedman BI, Scofield RH, Moser KL, Gaffney PM, James JA, Langefeld CD, Kaufman KM, Harley JB, Atkinson JP.

Genes Immun. 2011 Jun;12(4):270-9. doi: 10.1038/gene.2010.73. Epub 2011 Jan 27.

2.

Typing TREX1 gene in patients with systemic lupus erythematosus.

Fredi M, Bianchi M, Andreoli L, Greco G, Olivieri I, Orcesi S, Fazzi E, Cereda C, Tincani A.

Reumatismo. 2015 Jun 30;67(1):1-7. doi: 10.4081/reumatismo.2015.782.

3.

The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.

Orebaugh CD, Fye JM, Harvey S, Hollis T, Perrino FW.

J Biol Chem. 2011 Nov 18;286(46):40246-54. doi: 10.1074/jbc.M111.297903. Epub 2011 Sep 21.

4.

Rare variants in the TREX1 gene and susceptibility to autoimmune diseases.

Barizzone N, Monti S, Mellone S, Godi M, Marchini M, Scorza R, Danieli MG, D'Alfonso S.

Biomed Res Int. 2013;2013:471703. doi: 10.1155/2013/471703. Epub 2013 Oct 9.

5.

A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.

Abe J, Nakamura K, Nishikomori R, Kato M, Mitsuiki N, Izawa K, Awaya T, Kawai T, Yasumi T, Toyoshima I, Hasegawa K, Ohshima Y, Hiragi T, Sasahara Y, Suzuki Y, Kikuchi M, Osaka H, Ohya T, Ninomiya S, Fujikawa S, Akasaka M, Iwata N, Kawakita A, Funatsuka M, Shintaku H, Ohara O, Ichinose H, Heike T.

Rheumatology (Oxford). 2014 Mar;53(3):448-58. doi: 10.1093/rheumatology/ket372. Epub 2013 Dec 3.

PMID:
24300241
6.

Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient.

Olivieri I, Cattalini M, Tonduti D, La Piana R, Uggetti C, Galli J, Meini A, Tincani A, Moratto D, Fazzi E, Balottin U, Orcesi S.

Lupus. 2013 Sep;22(10):1064-9. doi: 10.1177/0961203313498800. Epub 2013 Aug 5.

PMID:
23918923
7.

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.

Rice G, Newman WG, Dean J, Patrick T, Parmar R, Flintoff K, Robins P, Harvey S, Hollis T, O'Hara A, Herrick AL, Bowden AP, Perrino FW, Lindahl T, Barnes DE, Crow YJ.

Am J Hum Genet. 2007 Apr;80(4):811-5. Epub 2007 Feb 19.

8.

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

Ramantani G, Kohlhase J, Hertzberg C, Innes AM, Engel K, Hunger S, Borozdin W, Mah JK, Ungerath K, Walkenhorst H, Richardt HH, Buckard J, Bevot A, Siegel C, von Stülpnagel C, Ikonomidou C, Thomas K, Proud V, Niemann F, Wieczorek D, Häusler M, Niggemann P, Baltaci V, Conrad K, Lebon P, Lee-Kirsch MA.

Arthritis Rheum. 2010 May;62(5):1469-77. doi: 10.1002/art.27367.

9.

TREX1 polymorphisms associated with autoantibodies in patients with systemic lupus erythematosus.

Hur JW, Sung YK, Shin HD, Park BL, Cheong HS, Bae SC.

Rheumatol Int. 2008 Jun;28(8):783-9. Epub 2007 Dec 19. Erratum in: Rheumatol Int. 2008 Jun;28(8):791-2.

PMID:
18092167
10.

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.

Lee-Kirsch MA, Gong M, Chowdhury D, Senenko L, Engel K, Lee YA, de Silva U, Bailey SL, Witte T, Vyse TJ, Kere J, Pfeiffer C, Harvey S, Wong A, Koskenmies S, Hummel O, Rohde K, Schmidt RE, Dominiczak AF, Gahr M, Hollis T, Perrino FW, Lieberman J, Hübner N.

Nat Genet. 2007 Sep;39(9):1065-7. Epub 2007 Jul 29.

PMID:
17660818
11.

The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.

Lehtinen DA, Harvey S, Mulcahy MJ, Hollis T, Perrino FW.

J Biol Chem. 2008 Nov 14;283(46):31649-56. doi: 10.1074/jbc.M806155200. Epub 2008 Sep 18.

12.

Evaluation of TRAF6 in a large multiancestral lupus cohort.

Namjou B, Choi CB, Harley IT, Alarcón-Riquelme ME; BIOLUPUS Network, Kelly JA, Glenn SB, Ojwang JO, Adler A, Kim K, Gallant CJ, Boackle SA, Criswell LA, Kimberly RP, Brown EE, Edberg J, Alarcón GS, Stevens AM, Jacob CO, Gilkeson GS, Kamen DL, Tsao BP, Anaya JM, Kim EM, Park SY, Sung YK, Guthridge JM, Merrill JT, Petri M, Ramsey-Goldman R, Vilá LM, Niewold TB, Martin J, Pons-Estel BA; Genoma en Lupus Network, Vyse TJ, Freedman BI, Moser KL, Gaffney PM, Williams AH, Comeau ME, Reveille JD, Kang C, James JA, Scofield RH, Langefeld CD, Kaufman KM, Harley JB, Bae SC.

Arthritis Rheum. 2012 Jun;64(6):1960-9. doi: 10.1002/art.34361. Epub 2012 Jan 9.

13.

High-density genotyping of STAT4 reveals multiple haplotypic associations with systemic lupus erythematosus in different racial groups.

Namjou B, Sestak AL, Armstrong DL, Zidovetzki R, Kelly JA, Jacob N, Ciobanu V, Kaufman KM, Ojwang JO, Ziegler J, Quismorio FP Jr, Reiff A, Myones BL, Guthridge JM, Nath SK, Bruner GR, Mehrian-Shai R, Silverman E, Klein-Gitelman M, McCurdy D, Wagner-Weiner L, Nocton JJ, Putterman C, Bae SC, Kim YJ, Petri M, Reveille JD, Vyse TJ, Gilkeson GS, Kamen DL, Alarcón-Riquelme ME, Gaffney PM, Moser KL, Merrill JT, Scofield RH, James JA, Langefeld CD, Harley JB, Jacob CO.

Arthritis Rheum. 2009 Apr;60(4):1085-95. doi: 10.1002/art.24387.

14.

DNase-active TREX1 frame-shift mutants induce serologic autoimmunity in mice.

Sakai T, Miyazaki T, Shin DM, Kim YS, Qi CF, Fariss R, Munasinghe J, Wang H, Kovalchuk AL, Kothari PH, Fermaintt CS, Atkinson JP, Perrino FW, Yan N, Morse HC 3rd.

J Autoimmun. 2017 Jul;81:13-23. doi: 10.1016/j.jaut.2017.03.001. Epub 2017 Mar 18.

15.

Brief report: candidate gene study in systemic sclerosis identifies a rare and functional variant of the TNFAIP3 locus as a risk factor for polyautoimmunity.

Koumakis E, Giraud M, Dieudé P, Cohignac V, Cuomo G, Airò P, Hachulla E, Matucci-Cerinic M, Diot E, Caramaschi P, Mouthon L, Riccieri V, Cracowski JL, Tiev KP, Francès C, Amoura Z, Sibilia J, Cosnes A, Carpentier P, Valentini G, Manetti M, Guiducci S, Meyer O, Kahan A, Boileau C, Chiocchia G, Allanore Y.

Arthritis Rheum. 2012 Aug;64(8):2746-52. doi: 10.1002/art.34490.

16.

IRF5 haplotypes demonstrate diverse serological associations which predict serum interferon alpha activity and explain the majority of the genetic association with systemic lupus erythematosus.

Niewold TB, Kelly JA, Kariuki SN, Franek BS, Kumar AA, Kaufman KM, Thomas K, Walker D, Kamp S, Frost JM, Wong AK, Merrill JT, Alarcón-Riquelme ME, Tikly M, Ramsey-Goldman R, Reveille JD, Petri MA, Edberg JC, Kimberly RP, Alarcón GS, Kamen DL, Gilkeson GS, Vyse TJ, James JA, Gaffney PM, Moser KL, Crow MK, Harley JB.

Ann Rheum Dis. 2012 Mar;71(3):463-8. doi: 10.1136/annrheumdis-2011-200463. Epub 2011 Nov 16.

17.

New roles for the major human 3'-5' exonuclease TREX1 in human disease.

Kavanagh D, Spitzer D, Kothari PH, Shaikh A, Liszewski MK, Richards A, Atkinson JP.

Cell Cycle. 2008 Jun 15;7(12):1718-25. Epub 2008 Jun 16. Review.

18.

Role of STAT4 polymorphisms in systemic lupus erythematosus in a Japanese population: a case-control association study of the STAT1-STAT4 region.

Kawasaki A, Ito I, Hikami K, Ohashi J, Hayashi T, Goto D, Matsumoto I, Ito S, Tsutsumi A, Koga M, Arinami T, Graham RR, Hom G, Takasaki Y, Hashimoto H, Behrens TW, Sumida T, Tsuchiya N.

Arthritis Res Ther. 2008;10(5):R113. doi: 10.1186/ar2516. Epub 2008 Sep 19.

19.

Evaluation of the genetic association of the PTPN22 R620W polymorphism in familial and sporadic systemic lupus erythematosus.

Kaufman KM, Kelly JA, Herring BJ, Adler AJ, Glenn SB, Namjou B, Frank SG, Dawson SL, Bruner GR, James JA, Harley JB.

Arthritis Rheum. 2006 Aug;54(8):2533-40.

20.

Aicardi-Goutières syndrome.

Crow YJ.

Handb Clin Neurol. 2013;113:1629-35. doi: 10.1016/B978-0-444-59565-2.00031-9. Review.

PMID:
23622384

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