Literature DB >> 22356656

Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome.

V Tüngler, R M Silver, H Walkenhorst, C Günther, M A Lee-Kirsch.   

Abstract

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Year:  2012        PMID： 22356656     DOI： 10.1111/j.1365-2133.2012.10813.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  15 in total

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

Authors:  Kazuo Yamashiro; Ryota Tanaka; Yuanzhe Li; Michitaka Mikasa; Nobutaka Hattori
Journal:  J Neurol       Date:  2013-08-30       Impact factor: 4.849

Review 2.  The Cutaneous Spectrum of Lupus Erythematosus.

Authors:  Simone Ribero; Savino Sciascia; Luca Borradori; Dan Lipsker
Journal:  Clin Rev Allergy Immunol       Date:  2017-12       Impact factor: 8.667

3.  The Arg-62 residues of the TREX1 exonuclease act across the dimer interface contributing to catalysis in the opposing protomers.

Authors:  Jason M Fye; Stephanie R Coffin; Clinton D Orebaugh; Thomas Hollis; Fred W Perrino
Journal:  J Biol Chem       Date:  2014-03-09       Impact factor: 5.157

4.  TREX1 D18N mice fail to process erythroblast DNA resulting in inflammation and dysfunctional erythropoiesis.

Authors:  Stephen L Rego; Scott Harvey; Sean R Simpson; Wayne O Hemphill; Zachariah A McIver; Jason M Grayson; Fred W Perrino
Journal:  Autoimmunity       Date:  2018-11-13       Impact factor: 2.815

Review 5.  Human disease phenotypes associated with mutations in TREX1.

Authors:  Gillian I Rice; Mathieu P Rodero; Yanick J Crow
Journal:  J Clin Immunol       Date:  2015-03-04       Impact factor: 8.317

6.  [Genetics of lupus erythematosus].

Authors:  Claudia Günther
Journal:  Hautarzt       Date:  2015-02       Impact factor: 0.751

Review 7.  Update on pathogenesis and treatment of CLE.

Authors:  Emily D Privette; Victoria P Werth
Journal:  Curr Opin Rheumatol       Date:  2013-09       Impact factor: 5.006

Review 8.  Therapies in Aicardi-Goutières syndrome.

Authors:  Y J Crow; A Vanderver; S Orcesi; T W Kuijpers; G I Rice
Journal:  Clin Exp Immunol       Date:  2014-01       Impact factor: 4.330

9.  TREX-1-Related Disease Associated with the Presence of Cryofibrinogenemia.

Authors:  C Paradis; M Cadieux-Dion; C Meloche; M Gravel; J Paradis; A Des Roches; G Leclerc; P Cossette; P Begin
Journal:  J Clin Immunol       Date:  2019-01-26       Impact factor: 8.317

Review 10.  Pathogenesis and targeted treatment of skin injury in SLE.

Authors:  Guo-Min Deng; George C Tsokos
Journal:  Nat Rev Rheumatol       Date:  2015-08-04       Impact factor: 20.543
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