Literature DB >> 24270665

Deregulated type I IFN response in TREX1-associated familial chilblain lupus.

Katrin Peschke1, Franziska Friebe2, Nick Zimmermann2, Tom Wahlicht2, Tina Schumann1, Martin Achleitner1, Nicole Berndt2, Hella Luksch3, Rayk Behrendt1, Min Ae Lee-Kirsch3, Axel Roers1, Claudia Günther4.   

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Year:  2013        PMID： 24270665     DOI： 10.1038/jid.2013.496

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  15 in total

1.  Excision of 3' termini by the Trex1 and TREX2 3'-->5' exonucleases. Characterization of the recombinant proteins.

Authors:  D J Mazur; F W Perrino
Journal:  J Biol Chem       Date:  2001-03-06       Impact factor: 5.157

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

Authors:  Jane C Ravenscroft; Mohnish Suri; Gillian I Rice; Marcin Szynkiewicz; Yanick J Crow
Journal:  Am J Med Genet A       Date:  2011-01       Impact factor: 2.802

3.  Autoimmunity initiates in nonhematopoietic cells and progresses via lymphocytes in an interferon-dependent autoimmune disease.

Authors:  Alevtina Gall; Piper Treuting; Keith B Elkon; Yueh-Ming Loo; Michael Gale; Glen N Barber; Daniel B Stetson
Journal:  Immunity       Date:  2012-01-27       Impact factor: 31.745

4.  Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.

Authors:  Min Ae Lee-Kirsch; Maolian Gong; Herbert Schulz; Franz Rüschendorf; Annette Stein; Christiane Pfeiffer; Annalisa Ballarini; Manfred Gahr; Norbert Hubner; Maja Linné
Journal:  Am J Hum Genet       Date:  2006-08-17       Impact factor: 11.025

5.  Enhanced type I interferon signalling promotes Th1-biased inflammation in cutaneous lupus erythematosus.

Authors:  Joerg Wenzel; Eva Wörenkämper; Silke Freutel; Stefanie Henze; Otto Haller; Thomas Bieber; Thomas Tüting
Journal:  J Pathol       Date:  2005-03       Impact factor: 7.996

6.  Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.

Authors:  Gillian Rice; William G Newman; John Dean; Teresa Patrick; Rekha Parmar; Kim Flintoff; Peter Robins; Scott Harvey; Thomas Hollis; Ann O'Hara; Ariane L Herrick; Andrew P Bowden; Fred W Perrino; Tomas Lindahl; Deborah E Barnes; Yanick J Crow
Journal:  Am J Hum Genet       Date:  2007-02-19       Impact factor: 11.025

7.  Gene-targeted mice lacking the Trex1 (DNase III) 3'-->5' DNA exonuclease develop inflammatory myocarditis.

Authors:  Masashi Morita; Gordon Stamp; Peter Robins; Anna Dulic; Ian Rosewell; Geza Hrivnak; Graham Daly; Tomas Lindahl; Deborah E Barnes
Journal:  Mol Cell Biol       Date:  2004-08       Impact factor: 4.272

8.  A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis.

Authors:  J Aicardi; F Goutières
Journal:  Ann Neurol       Date:  1984-01       Impact factor: 10.422

9.  Trex1 prevents cell-intrinsic initiation of autoimmunity.

Authors:  Daniel B Stetson; Joan S Ko; Thierry Heidmann; Ruslan Medzhitov
Journal:  Cell       Date:  2008-08-22       Impact factor: 41.582

Review 10.  Aicardi-Goutières syndrome: a model disease for systemic autoimmunity.

Authors:  M A Lee-Kirsch; C Wolf; C Günther
Journal:  Clin Exp Immunol       Date:  2014-01       Impact factor: 4.330
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  17 in total

Review 1.  Monogenic Lupus.

Authors:  Mindy S Lo
Journal:  Curr Rheumatol Rep       Date:  2016-12       Impact factor: 4.592

Review 2.  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

3.  [Genetics of lupus erythematosus].

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

Review 4.  Insights from Mendelian Interferonopathies: Comparison of CANDLE, SAVI with AGS, Monogenic Lupus.

Authors:  Hanna Kim; Gina A Montealegre Sanchez; Raphaela Goldbach-Mansky
Journal:  J Mol Med (Berl)       Date:  2016-09-27       Impact factor: 4.599

5.  Autosomal Recessive ISG15 Deficiency Underlies Type I Interferonopathy with Systemic Lupus Erythematosus and Inflammatory Myositis.

Authors:  Sulaiman M Al-Mayouf; Lujayn Akbar; Abdullatif AlEnazi; Hamoud Al-Mousa
Journal:  J Clin Immunol       Date:  2021-03-19       Impact factor: 8.317

6.  RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA.

Authors:  Christine Wolf; Alexander Rapp; Nicole Berndt; Wolfgang Staroske; Max Schuster; Manuela Dobrick-Mattheuer; Stefanie Kretschmer; Nadja König; Thomas Kurth; Dagmar Wieczorek; Karin Kast; M Cristina Cardoso; Claudia Günther; Min Ae Lee-Kirsch
Journal:  Nat Commun       Date:  2016-05-27       Impact factor: 14.919

7.  Multifaceted role of TREX2 in the skin defense against UV-induced skin carcinogenesis.

Authors:  Joan Manils; Diana Gómez; Mercè Salla-Martret; Heinz Fischer; Jason M Fye; Elena Marzo; Laura Marruecos; Inma Serrano; Rocío Salgado; Juan P Rodrigo; Juana M Garcia-Pedrero; Anna M Serafin; Xavier Cañas; Carmen Benito; Agustí Toll; Sònia-Vanina Forcales; Fred W Perrino; Leopold Eckhart; Concepció Soler
Journal:  Oncotarget       Date:  2015-09-08

8.  MicroRNA regulation of endothelial TREX1 reprograms the tumour microenvironment.

Authors:  RaeAnna Wilson; Cristina Espinosa-Diez; Nathan Kanner; Namita Chatterjee; Rebecca Ruhl; Christina Hipfinger; Sunil J Advani; Jie Li; Omar F Khan; Aleksandra Franovic; Sara M Weis; Sushil Kumar; Lisa M Coussens; Daniel G Anderson; Clark C Chen; David A Cheresh; Sudarshan Anand
Journal:  Nat Commun       Date:  2016-11-25       Impact factor: 14.919

9.  Double deficiency of Trex2 and DNase1L2 nucleases leads to accumulation of DNA in lingual cornifying keratinocytes without activating inflammatory responses.

Authors:  Joan Manils; Heinz Fischer; Joan Climent; Eduard Casas; Celia García-Martínez; Jordi Bas; Supawadee Sukseree; Tanya Vavouri; Francisco Ciruela; Josep Maria de Anta; Erwin Tschachler; Leopold Eckhart; Concepció Soler
Journal:  Sci Rep       Date:  2017-09-19       Impact factor: 4.379

Review 10.  Pathophysiology of cutaneous lupus erythematosus.

Authors:  Jordan C Achtman; Victoria P Werth
Journal:  Arthritis Res Ther       Date:  2015-08-10       Impact factor: 5.156
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