메뉴 건너뛰기




Volumn 35, Issue 3, 2015, Pages 235-243

Human Disease Phenotypes Associated With Mutations in TREX1

Author keywords

Aicardi Gouti res syndrome; Familial chilblain lupus; Retinal vasculopathy with cerebral leukodystrophy; Systemic lupus erythematosus; TREX1

Indexed keywords

EXONUCLEASE; THREE PRIME REPAIR EXONUCLEASE I; UNCLASSIFIED DRUG; EXODEOXYRIBONUCLEASE; PHOSPHOPROTEIN; THREE PRIME REPAIR EXONUCLEASE 1;

EID: 84925501444     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-015-0147-3     Document Type: Review
Times cited : (165)

References (75)
  • 1
    • 0014690918 scopus 로고
    • Properties of deoxyribonuclease 3 from mammalian tissues
    • COI: 1:CAS:528:DyaF1MXkvFyms70%3D
    • Lindahl T, Gally JA, Edelman GM. Properties of deoxyribonuclease 3 from mammalian tissues. J Biol Chem. 1969;244(18):5014–9.
    • (1969) J Biol Chem , vol.244 , Issue.18 , pp. 5014-5019
    • Lindahl, T.1    Gally, J.A.2    Edelman, G.M.3
  • 2
    • 0032616333 scopus 로고    scopus 로고
    • Exonucleases and the incorporation of aranucleotides into DNA
    • COI: 1:CAS:528:DyaK1MXmt1yjs70%3D
    • Perrino FW, Mazur DJ, Ward H, Harvey S. Exonucleases and the incorporation of aranucleotides into DNA. Cell Biochem Biophys. 1999;30(3):331–52.
    • (1999) Cell Biochem Biophys , vol.30 , Issue.3 , pp. 331-352
    • Perrino, F.W.1    Mazur, D.J.2    Ward, H.3    Harvey, S.4
  • 3
    • 0037786682 scopus 로고    scopus 로고
    • A human DNA editing enzyme homologous to the escherichia coli DnaQ/MutD protein
    • COI: 1:CAS:528:DyaK1MXksFKltLs%3D
    • 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(13):3868–75.
    • (1999) EMBO J , vol.18 , Issue.13 , pp. 3868-3875
    • Hoss, M.1    Robins, P.2    Naven, T.J.3    Pappin, D.J.4    Sgouros, J.5    Lindahl, T.6
  • 4
    • 0033538461 scopus 로고    scopus 로고
    • Identification and expression of the TREX1 and TREX2 cDNA sequences encoding mammalian 3’– > 5’ exonucleases
    • COI: 1:CAS:528:DyaK1MXksFKmt7s%3D
    • Mazur DJ, Perrino FW. Identification and expression of the TREX1 and TREX2 cDNA sequences encoding mammalian 3’– > 5’ exonucleases. J Biol Chem. 1999;274(28):19655–60.
    • (1999) J Biol Chem , vol.274 , Issue.28 , pp. 19655-19660
    • Mazur, D.J.1    Perrino, F.W.2
  • 5
    • 3242672339 scopus 로고    scopus 로고
    • Gene-targeted mice lacking the Trex1 (DNase III) 3’– > 5’ DNA exonuclease develop inflammatory myocarditis
    • COI: 1:CAS:528:DC%2BD2cXmtlKltbc%3D
    • 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(15):6719–27.
    • (2004) Mol Cell Biol , vol.24 , Issue.15 , pp. 6719-6727
    • Morita, M.1    Stamp, G.2    Robins, P.3    Dulic, A.4    Rosewell, I.5    Hrivnak, G.6
  • 6
    • 77958114725 scopus 로고    scopus 로고
    • The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1
    • COI: 1:CAS:528:DC%2BC3cXht1Slur7E
    • Yan N, Regalado-Magdos AD, Stiggelbout B, Lee-Kirsch MA, Lieberman J. The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1. Nat Immunol. 2010;11(11):1005–13.
    • (2010) Nat Immunol , vol.11 , Issue.11 , pp. 1005-1013
    • Yan, N.1    Regalado-Magdos, A.D.2    Stiggelbout, B.3    Lee-Kirsch, M.A.4    Lieberman, J.5
  • 7
    • 77958147729 scopus 로고    scopus 로고
    • Host DNase TREX1 hides HIV from DNA sensors
    • COI: 1:CAS:528:DC%2BC3cXhtlSgtbbN
    • Geijtenbeek TB. Host DNase TREX1 hides HIV from DNA sensors. Nat Immunol. 2010;11(11):979–80.
    • (2010) Nat Immunol , vol.11 , Issue.11 , pp. 979-980
    • Geijtenbeek, T.B.1
  • 8
    • 84899685774 scopus 로고    scopus 로고
    • Safeguard against DNA sensing: the role of TREX1 in HIV-1 infection and autoimmune diseases
    • Hasan M, Yan N. Safeguard against DNA sensing: the role of TREX1 in HIV-1 infection and autoimmune diseases. Front Microbiol. 2014;5:193.
    • (2014) Front Microbiol , vol.5 , pp. 193
    • Hasan, M.1    Yan, N.2
  • 9
    • 84894341342 scopus 로고    scopus 로고
    • A nationwide survey of aicardi-goutieres syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study
    • COI: 1:CAS:528:DC%2BC2cXjt1Srsr0%3D
    • Abe J, Nakamura K, Nishikomori R, Kato M, Mitsuiki N, Izawa K, et al. A nationwide survey of aicardi-goutieres syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study. Rheumatology (Oxford). 2014;53(3):448–58.
    • (2014) Rheumatology (Oxford) , vol.53 , Issue.3 , pp. 448-458
    • Abe, J.1    Nakamura, K.2    Nishikomori, R.3    Kato, M.4    Mitsuiki, N.5    Izawa, K.6
  • 10
    • 35349019691 scopus 로고    scopus 로고
    • Clinical and molecular phenotype of aicardi-goutieres syndrome
    • COI: 1:CAS:528:DC%2BD2sXhtFSktrvP
    • Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, et al. Clinical and molecular phenotype of aicardi-goutieres syndrome. Am J Hum Genet. 2007;81(4):713–25.
    • (2007) Am J Hum Genet , vol.81 , Issue.4 , pp. 713-725
    • Rice, G.1    Patrick, T.2    Parmar, R.3    Taylor, C.F.4    Aeby, A.5    Aicardi, J.6
  • 11
    • 84921417123 scopus 로고    scopus 로고
    • Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
    • COI: 1:CAS:528:DC%2BC2MXhsV2hu7k%3D
    • Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, et al. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A. 2015;167(2):296–312.
    • (2015) Am J Med Genet A , vol.167 , Issue.2 , pp. 296-312
    • Crow, Y.J.1    Chase, D.S.2    Lowenstein Schmidt, J.3    Szynkiewicz, M.4    Forte, G.M.5    Gornall, H.L.6
  • 12
    • 81155154298 scopus 로고    scopus 로고
    • The TREX1 exonuclease R114H mutation in aicardi-goutieres syndrome and lupus reveals dimeric structure requirements for DNA degradation activity
    • COI: 1:CAS:528:DC%2BC3MXhsVKjs7zN
    • Orebaugh CD, Fye JM, Harvey S, Hollis T, Perrino FW. The TREX1 exonuclease R114H mutation in aicardi-goutieres syndrome and lupus reveals dimeric structure requirements for DNA degradation activity. J Biol Chem. 2011;286(46):40246–54.
    • (2011) J Biol Chem , vol.286 , Issue.46 , pp. 40246-40254
    • Orebaugh, C.D.1    Fye, J.M.2    Harvey, S.3    Hollis, T.4    Perrino, F.W.5
  • 13
    • 33746581694 scopus 로고    scopus 로고
    • Mutations in the gene encoding the 3’-5’ DNA exonuclease TREX1 cause aicardi-goutieres syndrome at the AGS1 locus
    • COI: 1:CAS:528:DC%2BD28XnsVCgsro%3D
    • 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-goutieres syndrome at the AGS1 locus. Nat Genet. 2006;38(8):917–20.
    • (2006) Nat Genet , vol.38 , Issue.8 , pp. 917-920
    • Crow, Y.J.1    Hayward, B.E.2    Parmar, R.3    Robins, P.4    Leitch, A.5    Ali, M.6
  • 14
    • 57649134251 scopus 로고    scopus 로고
    • The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease
    • COI: 1:CAS:528:DC%2BD1cXhtlCjsb3E
    • Lehtinen DA, Harvey S, Mulcahy MJ, Hollis T, Perrino FW. The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease. J Biol Chem. 2008;283(46):31649–56.
    • (2008) J Biol Chem , vol.283 , Issue.46 , pp. 31649-31656
    • Lehtinen, D.A.1    Harvey, S.2    Mulcahy, M.J.3    Hollis, T.4    Perrino, F.W.5
  • 15
    • 78349249767 scopus 로고    scopus 로고
    • A de novo p. Asp18Asn mutation in TREX1 in a patient with aicardi-goutieres syndrome
    • COI: 1:CAS:528:DC%2BC3cXhsVWjsL7P
    • Haaxma CA, Crow YJ, van Steensel MA, Lammens MM, Rice GI, Verbeek MM, et al. A de novo p. Asp18Asn mutation in TREX1 in a patient with aicardi-goutieres syndrome. Am J Med Genet A. 2010;152A(10):2612–7.
    • (2010) Am J Med Genet A , vol.152A , Issue.10 , pp. 2612-2617
    • Haaxma, C.A.1    Crow, Y.J.2    van Steensel, M.A.3    Lammens, M.M.4    Rice, G.I.5    Verbeek, M.M.6
  • 16
    • 84873829004 scopus 로고    scopus 로고
    • Heterozygous TREX1 p. Asp18Asn mutation can cause variable neurological symptoms in a family with aicardi-goutieres syndrome/familial chilblain lupus
    • Abe J, Izawa K, Nishikomori R, Awaya T, Kawai T, Yasumi T, et al. Heterozygous TREX1 p. Asp18Asn mutation can cause variable neurological symptoms in a family with aicardi-goutieres syndrome/familial chilblain lupus. Rheumatology (Oxford). 2013;52(2):406–8.
    • (2013) Rheumatology (Oxford) , vol.52 , Issue.2 , pp. 406-408
    • Abe, J.1    Izawa, K.2    Nishikomori, R.3    Awaya, T.4    Kawai, T.5    Yasumi, T.6
  • 17
    • 84863326630 scopus 로고    scopus 로고
    • Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or aicardi-goutieres syndrome
    • COI: 1:STN:280:DC%2BC38vjvV2nsg%3D%3D
    • Tungler V, Silver RM, Walkenhorst H, Gunther C, Lee-Kirsch MA. Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or aicardi-goutieres syndrome. Br J Dermatol. 2012;167(1):212–4.
    • (2012) Br J Dermatol , vol.167 , Issue.1 , pp. 212-214
    • Tungler, V.1    Silver, R.M.2    Walkenhorst, H.3    Gunther, C.4    Lee-Kirsch, M.A.5
  • 18
    • 34147185679 scopus 로고    scopus 로고
    • Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant aicardi-goutieres syndrome
    • COI: 1:CAS:528:DC%2BD2sXktVOis7Y%3D
    • 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(4):811–5.
    • (2007) Am J Hum Genet , vol.80 , Issue.4 , pp. 811-815
    • Rice, G.1    Newman, W.G.2    Dean, J.3    Patrick, T.4    Parmar, R.5    Flintoff, K.6
  • 19
    • 77951737544 scopus 로고    scopus 로고
    • Expanding the phenotypic spectrum of lupus erythematosus in aicardi-goutieres syndrome
    • COI: 1:CAS:528:DC%2BC3cXhtFGnu7bL
    • Ramantani G, Kohlhase J, Hertzberg C, Innes AM, Engel K, Hunger S, et al. Expanding the phenotypic spectrum of lupus erythematosus in aicardi-goutieres syndrome. Arthritis Rheum. 2010;62(5):1469–77.
    • (2010) Arthritis Rheum , vol.62 , Issue.5 , pp. 1469-1477
    • Ramantani, G.1    Kohlhase, J.2    Hertzberg, C.3    Innes, A.M.4    Engel, K.5    Hunger, S.6
  • 20
    • 34247842779 scopus 로고    scopus 로고
    • A mutation in TREX1 that impairs susceptibility to granzyme a-mediated cell death underlies familial chilblain lupus
    • COI: 1:CAS:528:DC%2BD2sXkvVOgt78%3D
    • 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 Me d (Berl). 2007;85(5):531–7.
    • (2007) J Mol Me d (Berl) , vol.85 , Issue.5 , pp. 531-537
    • Lee-Kirsch, M.A.1    Chowdhury, D.2    Harvey, S.3    Gong, M.4    Senenko, L.5    Engel, K.6
  • 21
    • 80052752626 scopus 로고    scopus 로고
    • Dominant mutation of the TREX1 exonuclease gene in lupus and aicardi-goutieres syndrome
    • COI: 1:CAS:528:DC%2BC3MXhtFCju7vK
    • Fye JM, Orebaugh CD, Coffin SR, Hollis T, Perrino FW. Dominant mutation of the TREX1 exonuclease gene in lupus and aicardi-goutieres syndrome. J Biol Chem. 2011;286(37):32373–82.
    • (2011) J Biol Chem , vol.286 , Issue.37 , pp. 32373-32382
    • Fye, J.M.1    Orebaugh, C.D.2    Coffin, S.R.3    Hollis, T.4    Perrino, F.W.5
  • 22
    • 84855352447 scopus 로고    scopus 로고
    • Defects in DNA degradation revealed in crystal structures of TREX1 exonuclease mutations linked to autoimmune disease
    • COI: 1:CAS:528:DC%2BC38XlsFehtw%3D%3D
    • Bailey SL, Harvey S, Perrino FW, Hollis T. Defects in DNA degradation revealed in crystal structures of TREX1 exonuclease mutations linked to autoimmune disease. DNA Repair (Amst). 2012;11(1):65–73.
    • (2012) DNA Repair (Amst) , vol.11 , Issue.1 , pp. 65-73
    • Bailey, S.L.1    Harvey, S.2    Perrino, F.W.3    Hollis, T.4
  • 23
    • 84898986513 scopus 로고    scopus 로고
    • The Arg-62 residues of the TREX1 exonuclease act across the dimer interface contributing to catalysis in the opposing protomers
    • COI: 1:CAS:528:DC%2BC2cXmsVClsr0%3D
    • Fye JM, Coffin SR, Orebaugh CD, Hollis T, Perrino FW. The Arg-62 residues of the TREX1 exonuclease act across the dimer interface contributing to catalysis in the opposing protomers. J Biol Chem. 2014;289(16):11556–65.
    • (2014) J Biol Chem , vol.289 , Issue.16 , pp. 11556-11565
    • Fye, J.M.1    Coffin, S.R.2    Orebaugh, C.D.3    Hollis, T.4    Perrino, F.W.5
  • 24
    • 0033915684 scopus 로고    scopus 로고
    • Familial systemic lupus erythematosus and congenital infection-like syndrome
    • COI: 1:STN:280:DC%2BD3M%2Fotlaltg%3D%3D
    • Dale RC, Tang SP, Heckmatt JZ, Tatnall FM. Familial systemic lupus erythematosus and congenital infection-like syndrome. Neuropediatrics. 2000;31(3):155–8.
    • (2000) Neuropediatrics , vol.31 , Issue.3 , pp. 155-158
    • Dale, R.C.1    Tang, S.P.2    Heckmatt, J.Z.3    Tatnall, F.M.4
  • 25
    • 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(6):399–402.
    • (2005) Neuropediatrics , vol.36 , Issue.6 , pp. 399-402
    • De Laet, C.1    Goyens, P.2    Christophe, C.3    Ferster, A.4    Mascart, F.5    Dan, B.6
  • 26
    • 43949144252 scopus 로고    scopus 로고
    • Aicardi-goutieres syndrome: an important Mendelian mimic of congenital infection
    • Crow YJ, Livingston JH. Aicardi-goutieres syndrome: an important Mendelian mimic of congenital infection. Dev Med Child Neurol. 2008;50(6):410–6.
    • (2008) Dev Med Child Neurol , vol.50 , Issue.6 , pp. 410-416
    • Crow, Y.J.1    Livingston, J.H.2
  • 28
    • 54949131283 scopus 로고    scopus 로고
    • The neonatal form of aicardi-goutieres syndrome masquerading as congenital infection
    • COI: 1:STN:280:DC%2BD1cjpsFKmtQ%3D%3D
    • Jepps H, Seal S, Hattingh L, Crow YJ. The neonatal form of aicardi-goutieres syndrome masquerading as congenital infection. Early Hum Dev. 2008;84(12):783–5.
    • (2008) Early Hum Dev , vol.84 , Issue.12 , pp. 783-785
    • Jepps, H.1    Seal, S.2    Hattingh, L.3    Crow, Y.J.4
  • 29
    • 84887607415 scopus 로고    scopus 로고
    • Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case–control study
    • COI: 1:CAS:528:DC%2BC3sXhslWlsb3L
    • Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, et al. Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case–control study. Lancet Neurol. 2013;12(12):1159–69.
    • (2013) Lancet Neurol , vol.12 , Issue.12 , pp. 1159-1169
    • Rice, G.I.1    Forte, G.M.2    Szynkiewicz, M.3    Chase, D.S.4    Aeby, A.5    Abdel-Hamid, M.S.6
  • 30
    • 84942855451 scopus 로고    scopus 로고
    • Aicardi-Goutieres syndrome harbours abundant systemic and brain-reactive autoantibodies, Ann Rheum Dis:
    • Cuadrado E, Vanderver A, Brown KJ, Sandza A, Takanohashi A, Jansen MH, et al. Aicardi-Goutieres syndrome harbours abundant systemic and brain-reactive autoantibodies. Ann Rheum Dis. 2014.
    • (2014) et al
    • Cuadrado, E.1    Vanderver, A.2    Brown, K.J.3    Sandza, A.4    Takanohashi, A.5    Jansen, M.H.6
  • 31
    • 18444387671 scopus 로고    scopus 로고
    • Cerebral thrombotic microangiopathy and antiphospholipid antibodies in aicardi-goutieres syndrome–report of two sisters
    • COI: 1:STN:280:DC%2BD2M7ktlKkug%3D%3D
    • Rasmussen M, Skullerud K, Bakke SJ, Lebon P, Jahnsen FL. Cerebral thrombotic microangiopathy and antiphospholipid antibodies in aicardi-goutieres syndrome–report of two sisters. Neuropediatrics. 2005;36(1):40–4.
    • (2005) Neuropediatrics , vol.36 , Issue.1 , pp. 40-44
    • Rasmussen, M.1    Skullerud, K.2    Bakke, S.J.3    Lebon, P.4    Jahnsen, F.L.5
  • 32
    • 84882989850 scopus 로고    scopus 로고
    • Dysregulation of the immune system in aicardi-goutieres syndrome: another example in a TREX1-mutated patient
    • COI: 1:STN:280:DC%2BC3sfmvFyitw%3D%3D
    • Olivieri I, Cattalini M, Tonduti D, La Piana R, Uggetti C, Galli J, et al. Dysregulation of the immune system in aicardi-goutieres syndrome: another example in a TREX1-mutated patient. Lupus. 2013;22(10):1064–9.
    • (2013) Lupus , vol.22 , Issue.10 , pp. 1064-1069
    • Olivieri, I.1    Cattalini, M.2    Tonduti, D.3    La Piana, R.4    Uggetti, C.5    Galli, J.6
  • 35
    • 33749006867 scopus 로고    scopus 로고
    • Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p
    • COI: 1:CAS:528:DC%2BD28XhtVChurrF
    • Lee-Kirsch MA, Gong M, Schulz H, Ruschendorf F, Stein A, Pfeiffer C, et al. Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p. Am J Hum Genet. 2006;79(4):731–7.
    • (2006) Am J Hum Genet , vol.79 , Issue.4 , pp. 731-737
    • Lee-Kirsch, M.A.1    Gong, M.2    Schulz, H.3    Ruschendorf, F.4    Stein, A.5    Pfeiffer, C.6
  • 36
    • 84886091994 scopus 로고    scopus 로고
    • A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus
    • Yamashiro K, Tanaka R, Li Y, Mikasa M, Hattori N. A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus. J Neurol. 2013;260(10):2653–5.
    • (2013) J Neurol , vol.260 , Issue.10 , pp. 2653-2655
    • Yamashiro, K.1    Tanaka, R.2    Li, Y.3    Mikasa, M.4    Hattori, N.5
  • 37
    • 84870504353 scopus 로고    scopus 로고
    • 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
    • COI: 1:CAS:528:DC%2BC38XovValu78%3D
    • Sugiura K, Takeichi T, Kono M, Ito Y, Ogawa Y, Muro Y, et al. 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. J Investig Dermatol. 2012;132(12):2855–7.
    • (2012) J Investig Dermatol , vol.132 , Issue.12 , pp. 2855-2857
    • Sugiura, K.1    Takeichi, T.2    Kono, M.3    Ito, Y.4    Ogawa, Y.5    Muro, Y.6
  • 38
    • 84928252776 scopus 로고    scopus 로고
    • Familial Chilblain Lupus Due to a Novel Mutation in the Exonuclease III Domain of 3’ Repair Exonuclease 1 (TREX1)
    • Gunther C, Berndt N, Wolf C, Lee-Kirsch MA. Familial Chilblain Lupus Due to a Novel Mutation in the Exonuclease III Domain of 3’ Repair Exonuclease 1 (TREX1). JAMA dermatology. 2014.
    • (2014) JAMA dermatology
    • Gunther, C.1    Berndt, N.2    Wolf, C.3    Lee-Kirsch, M.A.4
  • 39
    • 79960605523 scopus 로고    scopus 로고
    • du Moulin M, Nurnberg P, Crow YJ, Rutsch F. Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations. Proc Natl Acad Sci U S A. 2011;108 (26):E232; author reply E3
    • du Moulin M, Nurnberg P, Crow YJ, Rutsch F. Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations. Proc Natl Acad Sci U S A. 2011;108 (26):E232; author reply E3.
  • 40
    • 78650658122 scopus 로고    scopus 로고
    • Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus
    • Ravenscroft JC, Suri M, Rice GI, Szynkiewicz M, Crow YJ. Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. Am J Med Genet A. 2011;155A(1):235–7.
    • (2011) Am J Med Genet A , vol.155A , Issue.1 , pp. 235-237
    • Ravenscroft, J.C.1    Suri, M.2    Rice, G.I.3    Szynkiewicz, M.4    Crow, Y.J.5
  • 41
    • 84884336624 scopus 로고    scopus 로고
    • Systemic involvement in TREX1-associated familial chilblain lupus
    • Gunther C, Hillebrand M, Brunk J, Lee-Kirsch MA. Systemic involvement in TREX1-associated familial chilblain lupus. J Am Acad Dermatol. 2013;69(4):e179–81.
    • (2013) J Am Acad Dermatol , vol.69 , Issue.4 , pp. 179-181
    • Gunther, C.1    Hillebrand, M.2    Brunk, J.3    Lee-Kirsch, M.A.4
  • 42
    • 84895461649 scopus 로고    scopus 로고
    • Early-onset stroke and vasculopathy associated with mutations in ADA2
    • COI: 1:CAS:528:DC%2BC2cXkt1ehsLY%3D
    • Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Stone DL, et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med. 2014;370(10):911–20.
    • (2014) N Engl J Med , vol.370 , Issue.10 , pp. 911-920
    • Zhou, Q.1    Yang, D.2    Ombrello, A.K.3    Zavialov, A.V.4    Toro, C.5    Stone, D.L.6
  • 43
  • 45
    • 84905860730 scopus 로고    scopus 로고
    • STING-associated vasculopathy with onset in infancy–a new interferonopathy
    • Crow YJ, Casanova JL. STING-associated vasculopathy with onset in infancy–a new interferonopathy. N Engl J Med. 2014;371(6):568–71.
    • (2014) N Engl J Med , vol.371 , Issue.6 , pp. 568-571
    • Crow, Y.J.1    Casanova, J.L.2
  • 46
    • 84900856439 scopus 로고    scopus 로고
    • Deregulated type I IFN response in TREX1-associated familial chilblain lupus
    • COI: 1:CAS:528:DC%2BC3sXhvFGrsL7P
    • Peschke K, Friebe F, Zimmermann N, Wahlicht T, Schumann T, Achleitner M, et al. Deregulated type I IFN response in TREX1-associated familial chilblain lupus. J Invest Dermatol. 2014;134(5):1456–9.
    • (2014) J Invest Dermatol , vol.134 , Issue.5 , pp. 1456-1459
    • Peschke, K.1    Friebe, F.2    Zimmermann, N.3    Wahlicht, T.4    Schumann, T.5    Achleitner, M.6
  • 47
    • 69349086153 scopus 로고    scopus 로고
    • Familial chilblain lupus–a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1
    • COI: 1:STN:280:DC%2BD1MrnsleqtA%3D%3D
    • Gunther 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(2):162–6.
    • (2009) Dermatology , vol.219 , Issue.2 , pp. 162-166
    • Gunther, C.1    Meurer, M.2    Stein, A.3    Viehweg, A.4    Lee-Kirsch, M.A.5
  • 48
    • 34548327158 scopus 로고    scopus 로고
    • Mutations in the gene encoding the 3’-5’ DNA exonuclease TREX1 are associated with systemic lupus erythematosus
    • COI: 1:CAS:528:DC%2BD2sXps12gtLg%3D
    • 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(9):1065–7.
    • (2007) Nat Genet , vol.39 , Issue.9 , pp. 1065-1067
    • Lee-Kirsch, M.A.1    Gong, M.2    Chowdhury, D.3    Senenko, L.4    Engel, K.5    Lee, Y.A.6
  • 49
    • 79958015275 scopus 로고    scopus 로고
    • Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort
    • COI: 1:CAS:528:DC%2BC3MXmvFyksrY%3D
    • Namjou B, Kothari PH, Kelly JA, Glenn SB, Ojwang JO, Adler A, et al. Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort. Genes Immun. 2011;12(4):270–9.
    • (2011) Genes Immun , vol.12 , Issue.4 , pp. 270-279
    • Namjou, B.1    Kothari, P.H.2    Kelly, J.A.3    Glenn, S.B.4    Ojwang, J.O.5    Adler, A.6
  • 52
    • 0344492212 scopus 로고    scopus 로고
    • Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus
    • COI: 1:CAS:528:DC%2BD3sXitVaisb8%3D
    • Baechler EC, Batliwalla FM, Karypis G, Gaffney PM, Ortmann WA, Espe KJ, et al. Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus. Proc Natl Acad Sci U S A. 2003;100(5):2610–5.
    • (2003) Proc Natl Acad Sci U S A , vol.100 , Issue.5 , pp. 2610-2615
    • Baechler, E.C.1    Batliwalla, F.M.2    Karypis, G.3    Gaffney, P.M.4    Ortmann, W.A.5    Espe, K.J.6
  • 53
    • 0037451167 scopus 로고    scopus 로고
    • Interferon and granulopoiesis signatures in systemic lupus erythematosus blood
    • COI: 1:CAS:528:DC%2BD3sXitlOgs74%3D
    • Bennett L, Palucka AK, Arce E, Cantrell V, Borvak J, Banchereau J, et al. Interferon and granulopoiesis signatures in systemic lupus erythematosus blood. J Exp Med. 2003;197(6):711–23.
    • (2003) J. Exp. Med , vol.197 , Issue.6 , pp. 711-723
    • Bennett, L.1    Palucka, A.K.2    Arce, E.3    Cantrell, V.4    Borvak, J.5    Banchereau, J.6
  • 54
    • 34548334617 scopus 로고    scopus 로고
    • C-terminal truncations in human 3’-5’ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy
    • COI: 1:CAS:528:DC%2BD2sXps12gtL0%3D
    • Richards A, van den Maagdenberg AM, Jen JC, Kavanagh D, Bertram P, Spitzer D, et al. C-terminal truncations in human 3’-5’ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet. 2007;39(9):1068–70.
    • (2007) Nat Genet , vol.39 , Issue.9 , pp. 1068-1070
    • Richards, A.1    van den Maagdenberg, A.M.2    Jen, J.C.3    Kavanagh, D.4    Bertram, P.5    Spitzer, D.6
  • 55
    • 77957970103 scopus 로고    scopus 로고
    • Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation
    • COI: 1:STN:280:DC%2BC3cflslOjsw%3D%3D
    • Mateen FJ, Krecke K, Younge BR, Ford AL, Shaikh A, Kothari PH, et al. Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation. Neurology. 2010;75(13):1211–3.
    • (2010) Neurology , vol.75 , Issue.13 , pp. 1211-1213
    • Mateen, F.J.1    Krecke, K.2    Younge, B.R.3    Ford, A.L.4    Shaikh, A.5    Kothari, P.H.6
  • 56
    • 84921751959 scopus 로고    scopus 로고
    • TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy
    • DiFrancesco JC, Novara F, Zuffardi O, Forlino A, Gioia R, Cossu F, et al. TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy. Neurol Sci. 2014.
    • (2014) Neurol Sci
    • DiFrancesco, J.C.1    Novara, F.2    Zuffardi, O.3    Forlino, A.4    Gioia, R.5    Cossu, F.6
  • 59
    • 0033172887 scopus 로고    scopus 로고
    • Aicardi-goutieres syndrome: a genetic microangiopathy?
    • COI: 1:STN:280:DyaK1MzmvFWltA%3D%3D
    • Barth PG, Walter A, van Gelderen I. Aicardi-goutieres syndrome: a genetic microangiopathy? Acta Neuropathol. 1999;98(2):212–6.
    • (1999) Acta Neuropathol , vol.98 , Issue.2 , pp. 212-216
    • Barth, P.G.1    Walter, A.2    van Gelderen, I.3
  • 60
    • 77955145461 scopus 로고    scopus 로고
    • Intracerebral large artery disease in aicardi-goutieres syndrome implicates SAMHD1 in vascular homeostasis
    • Ramesh V, Bernardi B, Stafa A, Garone C, Franzoni E, Abinun M, et al. Intracerebral large artery disease in aicardi-goutieres syndrome implicates SAMHD1 in vascular homeostasis. Dev Med Child Neurol. 2010;52(8):725–32.
    • (2010) Dev Med Child Neurol , vol.52 , Issue.8 , pp. 725-732
    • Ramesh, V.1    Bernardi, B.2    Stafa, A.3    Garone, C.4    Franzoni, E.5    Abinun, M.6
  • 61
    • 0032211097 scopus 로고    scopus 로고
    • Transgenic expression of IFN-alpha in the central nervous system of mice protects against lethal neurotropic viral infection but induces inflammation and neurodegeneration
    • COI: 1:CAS:528:DyaK1cXntVWnt7Y%3D
    • Akwa Y, Hassett DE, Eloranta ML, Sandberg K, Masliah E, Powell H, et al. Transgenic expression of IFN-alpha in the central nervous system of mice protects against lethal neurotropic viral infection but induces inflammation and neurodegeneration. J Immunol. 1998;161(9):5016–26.
    • (1998) J Immunol , vol.161 , Issue.9 , pp. 5016-5026
    • Akwa, Y.1    Hassett, D.E.2    Eloranta, M.L.3    Sandberg, K.4    Masliah, E.5    Powell, H.6
  • 62
    • 0033578192 scopus 로고    scopus 로고
    • Structural and functional neuropathology in transgenic mice with CNS expression of IFN-alpha
    • COI: 1:CAS:528:DyaK1MXlt1Omsrk%3D
    • Campbell IL, Krucker T, Steffensen S, Akwa Y, Powell HC, Lane T, et al. Structural and functional neuropathology in transgenic mice with CNS expression of IFN-alpha. Brain Res. 1999;835(1):46–61.
    • (1999) Brain Res , vol.835 , Issue.1 , pp. 46-61
    • Campbell, I.L.1    Krucker, T.2    Steffensen, S.3    Akwa, Y.4    Powell, H.C.5    Lane, T.6
  • 63
    • 44949218591 scopus 로고    scopus 로고
    • Astrocytes produce interferon-alpha and CXCL10, but not IL-6 or CXCL8, in aicardi-goutieres syndrome
    • van Heteren JT, Rozenberg F, Aronica E, Troost D, Lebon P, Kuijpers TW. Astrocytes produce interferon-alpha and CXCL10, but not IL-6 or CXCL8, in aicardi-goutieres syndrome. Glia. 2008;56(5):568–78.
    • (2008) Glia , vol.56 , Issue.5 , pp. 568-578
    • van Heteren, J.T.1    Rozenberg, F.2    Aronica, E.3    Troost, D.4    Lebon, P.5    Kuijpers, T.W.6
  • 64
    • 84873399671 scopus 로고    scopus 로고
    • Chronic exposure of astrocytes to interferon-alpha reveals molecular changes related to aicardi-goutieres syndrome
    • Cuadrado E, Jansen MH, Anink J, De Filippis L, Vescovi AL, Watts C, et al. Chronic exposure of astrocytes to interferon-alpha reveals molecular changes related to aicardi-goutieres syndrome. Brain. 2013;136(Pt 1):245–58.
    • (2013) Brain , vol.136 , pp. 245-258
    • Cuadrado, E.1    Jansen, M.H.2    Anink, J.3    De Filippis, L.4    Vescovi, A.L.5    Watts, C.6
  • 65
    • 82555196095 scopus 로고    scopus 로고
    • Systemic lupus erythematosus
    • COI: 1:CAS:528:DC%2BC3MXhs1Sku7rP
    • Tsokos GC. Systemic lupus erythematosus. N Engl J Med. 2011;365(22):2110–21.
    • (2011) N Engl J Med , vol.365 , Issue.22 , pp. 2110-2121
    • Tsokos, G.C.1
  • 66
    • 0030712287 scopus 로고    scopus 로고
    • Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS)
    • COI: 1:STN:280:DyaK1c%2FjvFWrtw%3D%3D
    • Jen J, Cohen AH, Yue Q, Stout JT, Vinters HV, Nelson S, et al. Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). Neurology. 1997;49(5):1322–30.
    • (1997) Neurology , vol.49 , Issue.5 , pp. 1322-1330
    • Jen, J.1    Cohen, A.H.2    Yue, Q.3    Stout, J.T.4    Vinters, H.V.5    Nelson, S.6
  • 67
    • 36248988008 scopus 로고    scopus 로고
    • Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease
    • COI: 1:CAS:528:DC%2BD2sXhsVCntbbL
    • Yang YG, Lindahl T, Barnes DE. Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease. Cell. 2007;131(5):873–86.
    • (2007) Cell , vol.131 , Issue.5 , pp. 873-886
    • Yang, Y.G.1    Lindahl, T.2    Barnes, D.E.3
  • 68
    • 49549100511 scopus 로고    scopus 로고
    • Trex1 prevents cell-intrinsic initiation of autoimmunity
    • COI: 1:CAS:528:DC%2BD1cXhtVGqtrnK
    • Stetson DB, Ko JS, Heidmann T, Medzhitov R. Trex1 prevents cell-intrinsic initiation of autoimmunity. Cell. 2008;134(4):587–98.
    • (2008) Cell , vol.134 , Issue.4 , pp. 587-598
    • Stetson, D.B.1    Ko, J.S.2    Heidmann, T.3    Medzhitov, R.4
  • 69
    • 77950400643 scopus 로고    scopus 로고
    • Aicardi-goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity
    • COI: 1:CAS:528:DC%2BD1MXhtlCqu7jK
    • Crow YJ, Rehwinkel J. Aicardi-goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. Hum Mol Genet. 2009;18(R2):R130–6.
    • (2009) Hum Mol Genet , vol.18 , Issue.R2 , pp. 130-136
    • Crow, Y.J.1    Rehwinkel, J.2
  • 70
    • 84869862031 scopus 로고    scopus 로고
    • Endogenous retroelements and autoimmune disease
    • COI: 1:CAS:528:DC%2BC38XhsV2qt73K
    • Stetson DB. Endogenous retroelements and autoimmune disease. Curr Opin Immunol. 2012;24(6):692–7.
    • (2012) Curr Opin Immunol , vol.24 , Issue.6 , pp. 692-697
    • Stetson, D.B.1
  • 71
    • 84856301080 scopus 로고    scopus 로고
    • Autoimmunity initiates in nonhematopoietic cells and progresses via lymphocytes in an interferon-dependent autoimmune disease
    • COI: 1:CAS:528:DC%2BC38XhsFKjurY%3D
    • Gall A, Treuting P, Elkon KB, Loo YM, Gale Jr M, Barber GN, et al. Autoimmunity initiates in nonhematopoietic cells and progresses via lymphocytes in an interferon-dependent autoimmune disease. Immunity. 2012;36(1):120–31.
    • (2012) Immunity , vol.36 , Issue.1 , pp. 120-131
    • Gall, A.1    Treuting, P.2    Elkon, K.B.3    Loo, Y.M.4    Gale, M.5    Barber, G.N.6
  • 72
    • 84899112356 scopus 로고    scopus 로고
    • The enemy within: endogenous retroelements and autoimmune disease
    • COI: 1:CAS:528:DC%2BC2cXmsVWhsbs%3D
    • Volkman HE, Stetson DB. The enemy within: endogenous retroelements and autoimmune disease. Nat Immunol. 2014;15(5):415–22.
    • (2014) Nat Immunol , vol.15 , Issue.5 , pp. 415-422
    • Volkman, H.E.1    Stetson, D.B.2
  • 73
    • 84902197435 scopus 로고    scopus 로고
    • TREX1 deficiency triggers cell-autonomous immunity in a cGAS-dependent manner
    • COI: 1:CAS:528:DC%2BC2cXpsVajtLs%3D
    • Ablasser A, Hemmerling I, Schmid-Burgk JL, Behrendt R, Roers A, Hornung V. TREX1 deficiency triggers cell-autonomous immunity in a cGAS-dependent manner. J Immunol. 2014;192(12):5993–7.
    • (2014) J Immunol , vol.192 , Issue.12 , pp. 5993-5997
    • Ablasser, A.1    Hemmerling, I.2    Schmid-Burgk, J.L.3    Behrendt, R.4    Roers, A.5    Hornung, V.6
  • 74
    • 84871222424 scopus 로고    scopus 로고
    • Trex1 regulates lysosomal biogenesis and interferon-independent activation of antiviral genes
    • COI: 1:CAS:528:DC%2BC38Xhs1ymtrvI
    • Hasan M, Koch J, Rakheja D, Pattnaik AK, Brugarolas J, Dozmorov I, et al. Trex1 regulates lysosomal biogenesis and interferon-independent activation of antiviral genes. Nat Immunol. 2013;14(1):61–71.
    • (2013) Nat Immunol , vol.14 , Issue.1 , pp. 61-71
    • Hasan, M.1    Koch, J.2    Rakheja, D.3    Pattnaik, A.K.4    Brugarolas, J.5    Dozmorov, I.6
  • 75
    • 47249142894 scopus 로고    scopus 로고
    • New roles for the major human 3’-5’ exonuclease TREX1 in human disease
    • COI: 1:CAS:528:DC%2BD1cXhtVehtLjJ
    • Kavanagh D, Spitzer D, Kothari PH, Shaikh A, Liszewski MK, Richards A, et al. New roles for the major human 3’-5’ exonuclease TREX1 in human disease. Cell Cycle. 2008;7(12):1718–25.
    • (2008) Cell Cycle , vol.7 , Issue.12 , pp. 1718-1725
    • Kavanagh, D.1    Spitzer, D.2    Kothari, P.H.3    Shaikh, A.4    Liszewski, M.K.5    Richards, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.