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-Reference-Cited by-同舟云学术

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

Published:2012-12 Issue:12 Volume:132 Page:2855-2857
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

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

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference12 articles.

1. Structure of the dimeric exonuclease TREX1 in complex with DNA displays a proline-rich binding site for WW domains;Brucet;J Biol Chem,2007

2. Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus;Crow;Nat Genet,2006

3. TREX1 gene variant in neuropsychiatric systemic lupus erythematosus;de Vries;Ann Rheum Dis,2010

4. A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome;Haaxma;Am J Med Genet A,2010

5. A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus;Lee-Kirsch;J Mol Med,2007

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2. Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi–Goutie’res syndrome;Pediatric Rheumatology;2020-04-15

3. TREX1 As a Potential Therapeutic Target for Autoimmune and Inflammatory Diseases;Current Pharmaceutical Design;2019-11-13

4. TREX-1-Related Disease Associated with the Presence of Cryofibrinogenemia;Journal of Clinical Immunology;2019-01

5. DNA Damage and Deficiencies in the Mechanisms of Its Repair: Implications in the Pathogenesis of Systemic Lupus Erythematosus;Journal of Immunology Research;2018-07-12