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Journal Abstract Search

318 related items for PubMed ID: 30673078

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  • 2. 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
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  • 4. Efficacy of JAK1/2 inhibition in the treatment of chilblain lupus due to TREX1 deficiency.
    Briand C, Frémond ML, Bessis D, Carbasse A, Rice GI, Bondet V, Duffy D, Chatenoud L, Blanche S, Crow YJ, Neven B.
    Ann Rheum Dis; 2019 Mar; 78(3):431-433. PubMed ID: 30282666
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  • 6. 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
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  • 8. 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 15; 18(1):32. PubMed ID: 32293470
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  • 9. Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus.
    Abe J, Izawa K, Nishikomori R, Awaya T, Kawai T, Yasumi T, Hiragi N, Hiragi T, Ohshima Y, Heike T.
    Rheumatology (Oxford); 2013 Feb 15; 52(2):406-8. PubMed ID: 22829693
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  • 10. 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 15; 134(5):1456-1459. PubMed ID: 24270665
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  • 11. 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 21; 112(16):5117-22. PubMed ID: 25848017
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  • 12. [Familial chilblain lupus: Four cases spanning three generations].
    Beltoise AS, Audouin-Pajot C, Lucas P, Tournier E, Rice GI, Crow YJ, Mazereeuw-Hautier J.
    Ann Dermatol Venereol; 2018 Nov 21; 145(11):683-689. PubMed ID: 30217686
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  • 15. Chilblain lupus erythematosus--a review of literature.
    Hedrich CM, Fiebig B, Hauck FH, Sallmann S, Hahn G, Pfeiffer C, Heubner G, Lee-Kirsch MA, Gahr M.
    Clin Rheumatol; 2008 Aug 21; 27(8):949-54. PubMed ID: 18543054
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  • 16. Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome.
    Tüngler V, Silver RM, Walkenhorst H, Günther C, Lee-Kirsch MA.
    Br J Dermatol; 2012 Jul 21; 167(1):212-4. PubMed ID: 22356656
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  • 20. 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 21; 85(5):531-7. PubMed ID: 17440703
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