175 related articles for article (PubMed ID: 21204240)
1. 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. PubMed ID: 21204240
[No Abstract] [Full Text] [Related]
2. Familial chilblain lupus in a child with heterozygous mutation in SAMHD1 and normal interferon signature.
Linggonegoro DW; Song H; Jones KM; Lee PY; Schmidt B; Vleugels RA; Huang JT
Br J Dermatol; 2021 Sep; 185(3):650-652. PubMed ID: 33887057
[No Abstract] [Full Text] [Related]
3. [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; 145(11):683-689. PubMed ID: 30217686
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 27566796
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 24300241
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. [Familial chilblain lupus : Type 1 interferonopathy with model character].
Fiehn C
Z Rheumatol; 2017 May; 76(4):322-327. PubMed ID: 28389709
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 23989343
[No Abstract] [Full Text] [Related]
11. 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]
12. Familial Chilblain Lupus - What Can We Learn from Type I Interferonopathies?
Fiehn C
Curr Rheumatol Rep; 2017 Aug; 19(10):61. PubMed ID: 28844088
[TBL] [Abstract][Full Text] [Related]
13. The importance of chilblains as a diagnostic clue for mild Aicardi-Goutières syndrome.
Yarbrough K; Danko C; Krol A; Zonana J; Leitenberger S
Am J Med Genet A; 2016 Dec; 170(12):3308-3312. PubMed ID: 27604406
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 22829693
[No Abstract] [Full Text] [Related]
15. 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. PubMed ID: 22356656
[No Abstract] [Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. Docetaxel-induced relapse of subacute cutaneous lupus erythematosus and chilblain lupus.
Lebeau S; També S; Sallam MA; Alhowaish A; Tschanz C; Masouyé I; Borradori L
J Dtsch Dermatol Ges; 2013 Sep; 11(9):871-4. PubMed ID: 23848065
[No Abstract] [Full Text] [Related]
20. Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus.
David C; Arango-Franco CA; Badonyi M; Fouchet J; Rice GI; Didry-Barca B; Maisonneuve L; Seabra L; Kechiche R; Masson C; Cobat A; Abel L; Talouarn E; Béziat V; Deswarte C; Livingstone K; Paul C; Malik G; Ross A; Adam J; Walsh J; Kumar S; Bonnet D; Bodemer C; Bader-Meunier B; Marsh JA; Casanova JL; Crow YJ; Manoury B; Frémond ML; Bohlen J; Lepelley A
J Exp Med; 2024 Aug; 221(8):. PubMed ID: 38869500
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
