265 related articles for article (PubMed ID: 17440703)
1. A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.
Lee-Kirsch MA; Chowdhury D; Harvey S; Gong M; Senenko L; Engel K; Pfeiffer C; Hollis T; Gahr M; Perrino FW; Lieberman J; Hubner N
J Mol Med (Berl); 2007 May; 85(5):531-7. PubMed ID: 17440703
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 17660818
[TBL] [Abstract][Full Text] [Related]
3. Familial chilblain lupus due to a novel mutation in the exonuclease III domain of 3' repair exonuclease 1 (TREX1).
Günther C; Berndt N; Wolf C; Lee-Kirsch MA
JAMA Dermatol; 2015 Apr; 151(4):426-31. PubMed ID: 25517357
[TBL] [Abstract][Full Text] [Related]
4. Exonuclease TREX1 degrades double-stranded DNA to prevent spontaneous lupus-like inflammatory disease.
Grieves JL; Fye JM; Harvey S; Grayson JM; Hollis T; Perrino FW
Proc Natl Acad Sci U S A; 2015 Apr; 112(16):5117-22. PubMed ID: 25848017
[TBL] [Abstract][Full Text] [Related]
5. Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi-Goutie'res syndrome.
Yi C; Li Q; Xiao J
Pediatr Rheumatol Online J; 2020 Apr; 18(1):32. PubMed ID: 32293470
[TBL] [Abstract][Full Text] [Related]
6. Familial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1.
Günther C; Meurer M; Stein A; Viehweg A; Lee-Kirsch MA
Dermatology; 2009; 219(2):162-6. PubMed ID: 19478477
[TBL] [Abstract][Full Text] [Related]
7. Dominant mutation of the TREX1 exonuclease gene in lupus and Aicardi-Goutieres syndrome.
Fye JM; Orebaugh CD; Coffin SR; Hollis T; Perrino FW
J Biol Chem; 2011 Sep; 286(37):32373-82. PubMed ID: 21808053
[TBL] [Abstract][Full Text] [Related]
8. A homozygote TREX1 mutation in two siblings with different phenotypes: Chilblains and cerebral vasculitis.
Kisla Ekinci RM; Balci S; Bisgin A; Altintas DU; Yilmaz M
Eur J Med Genet; 2017 Dec; 60(12):690-694. PubMed ID: 28919362
[TBL] [Abstract][Full Text] [Related]
9. Assessment of Clinical Response to Janus Kinase Inhibition in Patients With Familial Chilblain Lupus and TREX1 Mutation.
Zimmermann N; Wolf C; Schwenke R; Lüth A; Schmidt F; Engel K; Lee-Kirsch MA; Günther C
JAMA Dermatol; 2019 Mar; 155(3):342-346. PubMed ID: 30673078
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 17357087
[TBL] [Abstract][Full Text] [Related]
11. Deregulated type I IFN response in TREX1-associated familial chilblain lupus.
Peschke K; Friebe F; Zimmermann N; Wahlicht T; Schumann T; Achleitner M; Berndt N; Luksch H; Behrendt R; Lee-Kirsch MA; Roers A; Günther C
J Invest Dermatol; 2014 May; 134(5):1456-1459. PubMed ID: 24270665
[No Abstract] [Full Text] [Related]
12. 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; 283(46):31649-56. PubMed ID: 18805785
[TBL] [Abstract][Full Text] [Related]
13. The Arg-62 residues of the TREX1 exonuclease act across the dimer interface contributing to catalysis in the opposing protomers.
Fye JM; Coffin SR; Orebaugh CD; Hollis T; Perrino FW
J Biol Chem; 2014 Apr; 289(16):11556-11565. PubMed ID: 24616097
[TBL] [Abstract][Full Text] [Related]
14. TREX-1-Related Disease Associated with the Presence of Cryofibrinogenemia.
Paradis C; Cadieux-Dion M; Meloche C; Gravel M; Paradis J; Des Roches A; Leclerc G; Cossette P; Begin P
J Clin Immunol; 2019 Jan; 39(1):118-125. PubMed ID: 30685859
[TBL] [Abstract][Full Text] [Related]
15. Systemic involvement in TREX1-associated familial chilblain lupus.
Günther C; Hillebrand M; Brunk J; Lee-Kirsch MA
J Am Acad Dermatol; 2013 Oct; 69(4):e179-81. PubMed ID: 24034389
[No Abstract] [Full Text] [Related]
16. A Novel Type I Interferon Primed Dendritic Cell Subpopulation in TREX1 Mutant Chilblain Lupus Patients.
Eugster A; Müller D; Gompf A; Reinhardt S; Lindner A; Ashton M; Zimmermann N; Beissert S; Bonifacio E; Günther C
Front Immunol; 2022; 13():897500. PubMed ID: 35911727
[TBL] [Abstract][Full Text] [Related]
17. The Overlap between Genetic Susceptibility to COVID-19 and Skin Diseases.
Jabalameli N; Rajabi F; Firooz A; Rezaei N
Immunol Invest; 2022 May; 51(4):1087-1094. PubMed ID: 33494631
[TBL] [Abstract][Full Text] [Related]
18. Defects in DNA degradation revealed in crystal structures of TREX1 exonuclease mutations linked to autoimmune disease.
Bailey SL; Harvey S; Perrino FW; Hollis T
DNA Repair (Amst); 2012 Jan; 11(1):65-73. PubMed ID: 22071149
[TBL] [Abstract][Full Text] [Related]
19. 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; 286(46):40246-54. PubMed ID: 21937424
[TBL] [Abstract][Full Text] [Related]
20. Severe chilblain lupus is associated with heterozygous missense mutations of catalytic amino acids or their adjacent mutations in the exonuclease domains of 3'-repair exonuclease 1.
Sugiura K; Takeichi T; Kono M; Ito Y; Ogawa Y; Muro Y; Akiyama M
J Invest Dermatol; 2012 Dec; 132(12):2855-7. PubMed ID: 22718116
[No Abstract] [Full Text] [Related]
[Next] [New Search]
