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Items: 1 to 20 of 98

1.

A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus.

Yamashiro K, Tanaka R, Li Y, Mikasa M, Hattori N.

J Neurol. 2013 Oct;260(10):2653-5. doi: 10.1007/s00415-013-7084-y. Epub 2013 Aug 30. No abstract available.

PMID:
23989343
2.

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;52(2):406-8. doi: 10.1093/rheumatology/kes181. Epub 2012 Jul 23. No abstract available.

PMID:
22829693
3.

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;167(1):212-4. doi: 10.1111/j.1365-2133.2012.10813.x. No abstract available.

PMID:
22356656
4.

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. doi: 10.1016/j.ejmg.2017.09.004. Epub 2017 Sep 13.

PMID:
28919362
5.

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. doi: 10.1001/jamadermatol.2014.3438.

PMID:
25517357
6.

Human disease phenotypes associated with mutations in TREX1.

Rice GI, Rodero MP, Crow YJ.

J Clin Immunol. 2015 Apr;35(3):235-43. doi: 10.1007/s10875-015-0147-3. Epub 2015 Mar 4. Review.

PMID:
25731743
7.

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. doi: 10.1038/jid.2013.496. Epub 2013 Nov 22. No abstract available. Erratum in: J Invest Dermatol. 2014 Sep;134(9):2475. J Invest Dermatol. 2014 May;134(5). doi: 10.1038/jid.2014.136.

8.

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. doi: 10.1016/j.jaad.2013.04.020. No abstract available.

PMID:
24034389
9.

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. doi: 10.1073/pnas.1423804112. Epub 2015 Apr 6.

10.

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. doi: 10.1159/000222430. Epub 2009 May 28.

PMID:
19478477
11.

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. doi: 10.1038/jid.2012.210. Epub 2012 Jun 21. No abstract available.

12.

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 16;286(37):32373-82. doi: 10.1074/jbc.M111.276287. Epub 2011 Aug 1.

13.

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
14.

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. Epub 2007 Apr 18.

PMID:
17440703
15.

Familial chilblain lupus due to a gain-of-function mutation in STING.

König N, Fiehn C, Wolf C, Schuster M, Cura Costa E, Tüngler V, Alvarez HA, Chara O, Engel K, Goldbach-Mansky R, Günther C, Lee-Kirsch MA.

Ann Rheum Dis. 2017 Feb;76(2):468-472. doi: 10.1136/annrheumdis-2016-209841. Epub 2016 Aug 26.

PMID:
27566796
16.

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
17.

[Chilblain lupus erythematosus].

Uter W, Proksch E, Schauder S.

Hautarzt. 1988 Sep;39(9):602-5. German.

PMID:
3182275
18.

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.

19.

Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus.

Ravenscroft JC, Suri M, Rice GI, Szynkiewicz M, Crow YJ.

Am J Med Genet A. 2011 Jan;155A(1):235-7. doi: 10.1002/ajmg.a.33778. No abstract available.

PMID:
21204240
20.

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;27(8):949-54. doi: 10.1007/s10067-008-0942-9. Epub 2008 Jun 10. Review. Erratum in: Clin Rheumatol. 2008 Oct;27(10):1341. Lee-Kirsch, Min Ae [added].

PMID:
18543054

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