Literature DB >> 22718116

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.

Kazumitsu Sugiura, Takuya Takeichi, Michihiro Kono, Yasuki Ito, Yasushi Ogawa, Yoshinao Muro, Masashi Akiyama.   

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Year:  2012        PMID： 22718116     DOI： 10.1038/jid.2012.210

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


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  11 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.  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.  Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.

Authors:  Luciana Martins de Carvalho; Gonza Ngoumou; Ji Woo Park; Nadja Ehmke; Nikolaus Deigendesch; Naoki Kitabayashi; Isabelle Melki; Flávio Falcäo L Souza; Andreas Tzschach; Marcello H Nogueira-Barbosa; Virgínia Ferriani; Paulo Louzada-Junior; Wilson Marques; Charles M Lourenço; Denise Horn; Tilmann Kallinich; Werner Stenzel; Sun Hur; Gillian I Rice; Yanick J Crow
Journal:  Arthritis Rheumatol       Date:  2017-08-22       Impact factor: 10.995

4.  [Genetics of lupus erythematosus].

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

Review 5.  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

6.  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 7.  The danger model approach to the pathogenesis of the rheumatic diseases.

Authors:  César Pacheco-Tena; Susana Aideé González-Chávez
Journal:  J Immunol Res       Date:  2015-04-20       Impact factor: 4.818

Review 8.  Chilblains in Southern California: two case reports and a review of the literature.

Authors:  Rebecca Gordon; Anne M Arikian; Anita S Pakula
Journal:  J Med Case Rep       Date:  2014-11-22

Review 9.  DNA Damage and Deficiencies in the Mechanisms of Its Repair: Implications in the Pathogenesis of Systemic Lupus Erythematosus.

Authors:  Martha Paola Mireles-Canales; Susana Aideé González-Chávez; Celia Maria Quiñonez-Flores; Ever Adán León-López; César Pacheco-Tena
Journal:  J Immunol Res       Date:  2018-07-12       Impact factor: 4.818

10.  Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.

Authors:  A-C Bursztejn; T A Briggs; Y del Toro Duany; B H Anderson; J O'Sullivan; S G Williams; C Bodemer; S Fraitag; F Gebhard; B Leheup; I Lemelle; A Oojageer; E Raffo; E Schmitt; G I Rice; S Hur; Y J Crow
Journal:  Br J Dermatol       Date:  2015-10-29       Impact factor: 9.302
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