메뉴 건너뛰기




Volumn 67, Issue 1, 2015, Pages 1-14

Typing TREX1 gene in patients with systemic lupus erythematosus

Author keywords

Neuropsychiatric systemic lupus erythematosus; Novel variation; TREX1

Indexed keywords

DNA EXONUCLEASE; EXONUCLEASE; NUCLEIC ACID; SINGLE STRANDED DNA; UNCLASSIFIED DRUG; BIOLOGICAL MARKER; EXODEOXYRIBONUCLEASE; PHOSPHOPROTEIN; THREE PRIME REPAIR EXONUCLEASE 1;

EID: 84936770481     PISSN: 00487449     EISSN: 22402683     Source Type: Journal    
DOI: 10.4081/reumatismo.2015.782     Document Type: Article
Times cited : (25)

References (25)
  • 1
    • 0037786682 scopus 로고    scopus 로고
    • A human DNA editing enzyme homologous to the Escherichia Coli DnaQ/MutD protein
    • Hoss M, Robins P, Naven TJ, Pappin DJ, Sgouros J, Lindahl T. A human DNA editing enzyme homologous to the Escherichia Coli DnaQ/MutD protein. EMBO J. 1999; 18: 3868-75.
    • (1999) EMBO J , vol.18 , pp. 3868-3875
    • Hoss, M.1    Robins, P.2    Naven, T.J.3    Pappin, D.J.4    Sgouros, J.5    Lindahl, T.6
  • 2
    • 33745501366 scopus 로고    scopus 로고
    • The exonuclease TREX1 is in the SET complex and acts in concert with NM23-H1 to degrade DNA during granzyme a-mediated cell death
    • Chowdhury D, Beresford PJ, Zhu P, Zhang D, Sug J, Demple B, et al. The exonuclease TREX1 is in the SET complex and acts in concert with NM23-H1 to degrade DNA during granzyme a-mediated cell death. Mol Cell. 2006; 23: 133-42.
    • (2006) Mol Cell , vol.23 , pp. 133-142
    • Chowdhury, D.1    Beresford, P.J.2    Zhu, P.3    Zhang, D.4    Sug, J.5    Demple, B.6
  • 3
    • 49549100511 scopus 로고    scopus 로고
    • Trex1 prevents cell-intrinsic initiation of autoimmunity
    • Stetson DB, Ko JS, Heidmann T, Medzhitov R. Trex1 prevents cell-intrinsic initiation of autoimmunity. Cell. 2008; 134: 587-98.
    • (2008) Cell , vol.134 , pp. 587-598
    • Stetson, D.B.1    Ko, J.S.2    Heidmann, T.3    Medzhitov, R.4
  • 4
    • 3242672339 scopus 로고    scopus 로고
    • Gene-targeted mice lacking the Trex1 (DNase III) 3'→ 5' DNA exonuclease develop inflammatory myocarditis
    • Morita M, Stamp G, Robins P, Dulic A, Rosewell I, Hrivnak G, et al Gene-targeted mice lacking the Trex1 (DNase III) 3'→ 5' DNA exonuclease develop inflammatory myocarditis. Mol Cell Biol. 2004; 24: 6719-27.
    • (2004) Mol Cell Biol , vol.24 , pp. 6719-6727
    • Morita, M.1    Stamp, G.2    Robins, P.3    Dulic, A.4    Rosewell, I.5    Hrivnak, G.6
  • 5
    • 33746581694 scopus 로고    scopus 로고
    • Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus
    • Crow YJ, Hayward BE, Parmar R, Robins P, Leitch A, Ali M, et al Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet. 2006; 38: 917-20.
    • (2006) Nat Genet , vol.38 , pp. 917-920
    • Crow, Y.J.1    Hayward, B.E.2    Parmar, R.3    Robins, P.4    Leitch, A.5    Ali, M.6
  • 7
    • 34147185679 scopus 로고    scopus 로고
    • Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome
    • Rice G, Newman WG, Dean J, Patrick T, Parmar R, Flintoff K, et al. Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. Am J Hum Genet. 2007; 80: 811-5.
    • (2007) Am J Hum Genet , vol.80 , pp. 811-815
    • Rice, G.1    Newman, W.G.2    Dean, J.3    Patrick, T.4    Parmar, R.5    Flintoff, K.6
  • 8
    • 34548327158 scopus 로고    scopus 로고
    • Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus
    • Lee-Kirsch MA, Gong M, Chowdhury D, Senenko L, Engel K, Lee YA, et al Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet. 2007; 39: 1065-7.
    • (2007) Nat Genet , vol.39 , pp. 1065-1067
    • Lee-Kirsch, M.A.1    Gong, M.2    Chowdhury, D.3    Senenko, L.4    Engel, K.5    Lee, Y.A.6
  • 11
    • 0021336060 scopus 로고
    • A progressive familial encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis
    • Aicardi J, Goutières F. A progressive familial encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol. 1984; 15:49-54.
    • (1984) Ann Neurol , vol.15 , pp. 49-54
    • Aicardi, J.1    Goutières, F.2
  • 12
    • 84899495767 scopus 로고    scopus 로고
    • Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
    • Rice GI, del Toro Duany Y, Jenkinson EM, Forte GM, Anderson BH, Ariaudo G, et al. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nat Genet. 2014; 46: 503-9.
    • (2014) Nat Genet , vol.46 , pp. 503-509
    • Rice, G.I.1    del Toro Duany, Y.2    Jenkinson, E.M.3    Forte, G.M.4    Anderson, B.H.5    Ariaudo, G.6
  • 13
    • 77951737544 scopus 로고    scopus 로고
    • Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome
    • Ramantani G, Kohlhase J, Hertzberg C, Innes AM, Engel K, Hunger S, et al. Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. Arthritis Rheum. 2010; 62: 1469-77.
    • (2010) Arthritis Rheum , vol.62 , pp. 1469-1477
    • Ramantani, G.1    Kohlhase, J.2    Hertzberg, C.3    Innes, A.M.4    Engel, K.5    Hunger, S.6
  • 14
    • 31544481206 scopus 로고    scopus 로고
    • Phenotypic overlap between infantile systemic lupus erythematosus and Aicardi-Goutieres syndrome
    • De Laet C, Goyens P, Christophe C, Ferster A, Mascart F, Dan B. Phenotypic overlap between infantile systemic lupus erythematosus and Aicardi-Goutieres syndrome. Neuropediatrics 2005; 36: 399-402.
    • (2005) Neuropediatrics , vol.36 , pp. 399-402
    • De Laet, C.1    Goyens, P.2    Christophe, C.3    Ferster, A.4    Mascart, F.5    Dan, B.6
  • 16
    • 0031229830 scopus 로고    scopus 로고
    • Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus
    • Hochberg MC. Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum. 1997; 40: 1725.
    • (1997) Arthritis Rheum , vol.40 , pp. 1725
    • Hochberg, M.C.1
  • 17
    • 84864470206 scopus 로고    scopus 로고
    • Derivation and validation of the Systemic Lupus International Collaborating Clinics classification criteria for systemic lupus erythematosus
    • Petri M, Orbai AM, Alarcón GS, Gordon C, Merrill JT, Fortinet PR, et al. Derivation and validation of the Systemic Lupus International Collaborating Clinics classification criteria for systemic lupus erythematosus. Arthritis Rheum. 2012; 64: 2677-86.
    • (2012) Arthritis Rheum , vol.64 , pp. 2677-2686
    • Petri, M.1    Orbai, A.M.2    Alarcón, G.S.3    Gordon, C.4    Merrill, J.T.5    Fortinet, P.R.6
  • 20
    • 82555192885 scopus 로고    scopus 로고
    • Type I interferonopathies: A novel set of inborn errors of immunity
    • Crow YJ. Type I interferonopathies: a novel set of inborn errors of immunity. Ann N Y Acad Sci. 2011; 1238: 91-8.
    • (2011) Ann N Y Acad Sci , vol.1238 , pp. 91-98
    • Crow, Y.J.1
  • 21
    • 33748447541 scopus 로고    scopus 로고
    • Type I interferon in systemic lupus erythematosus and other autoimmune diseases
    • Banchereau J, Pascual V. Type I interferon in systemic lupus erythematosus and other autoimmune diseases. Immunity. 2006; 25: 383-92.
    • (2006) Immunity , vol.25 , pp. 383-392
    • Banchereau, J.1    Pascual, V.2
  • 22
    • 81155154298 scopus 로고    scopus 로고
    • The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity
    • Orebaugh CD, Fye JM, Harvey S, Hollis T, Perrino FW. The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity. J Biol Chem. 2011; 286: 40246-54.
    • (2011) J Biol Chem , vol.286 , pp. 40246-40254
    • Orebaugh, C.D.1    Fye, J.M.2    Harvey, S.3    Hollis, T.4    Perrino, F.W.5
  • 23
    • 34247842779 scopus 로고    scopus 로고
    • A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus
    • Lee-Kirsch MA, Chowdhury D, Harvey S, Gong M, Senenko L, Engel K, et al. A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. J Mol Med (Berl). 2007; 85: 531-7.
    • (2007) J Mol Med (Berl) , vol.85 , pp. 531-537
    • Lee-Kirsch, M.A.1    Chowdhury, D.2    Harvey, S.3    Gong, M.4    Senenko, L.5    Engel, K.6
  • 24
    • 69349086153 scopus 로고    scopus 로고
    • 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. Familial chilblain lupus-a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1. Dermatology. 2009; 219: 162-6.
    • (2009) Dermatology , vol.219 , pp. 162-166
    • Günther, C.1    Meurer, M.2    Stein, A.3    Viehweg, A.4    Lee-Kirsch, M.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.