-
1
-
-
0014690918
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
27
-
-
84908699156
-
Mutations in ADAR1, IFIH1, and RNASEH2B Presenting As Spastic Paraplegia
-
Crow YJ, Zaki MS, Abdel-Hamid MS, Abdel-Salam G, Boespflug-Tanguy O, Cordeiro NJ, et al. Mutations in ADAR1, IFIH1, and RNASEH2B Presenting As Spastic Paraplegia. Neuropediatrics. 2014.
-
(2014)
Neuropediatrics
-
-
Crow, Y.J.1
Zaki, M.S.2
Abdel-Hamid, M.S.3
Abdel-Salam, G.4
Boespflug-Tanguy, O.5
Cordeiro, N.J.6
-
28
-
-
54949131283
-
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
-
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
-
-
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
-
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
-
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
-
33
-
-
84925462433
-
Epidemiology of systemic lupus erythematosus and cutaneous lupus in a predominantly white population in the United States
-
Jarukitsopa S, Hoganson DD, Crowson CS, Sokumbi O, Davis MD, Michet CJ, et al. Epidemiology of systemic lupus erythematosus and cutaneous lupus in a predominantly white population in the United States. Arthritis care & research. 2014.
-
(2014)
Arthritis care & research
-
-
Jarukitsopa, S.1
Hoganson, D.D.2
Crowson, C.S.3
Sokumbi, O.4
Davis, M.D.5
Michet, C.J.6
-
34
-
-
47349104680
-
Chilblain lupus erythematosus–a review of literature
-
COI: 1:STN:280:DC%2BD1cvis1Klsg%3D%3D
-
Hedrich CM, Fiebig B, Hauck FH, Sallmann S, Hahn G, Pfeiffer C, et al. Chilblain lupus erythematosus–a review of literature. Clin Rheumatol. 2008;27(8):949–54.
-
(2008)
Clin Rheumatol
, vol.27
, Issue.8
, pp. 949-954
-
-
Hedrich, C.M.1
Fiebig, B.2
Hauck, F.H.3
Sallmann, S.4
Hahn, G.5
Pfeiffer, C.6
-
35
-
-
33749006867
-
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
-
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
-
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
-
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
-
-
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
-
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
-
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
-
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
-
-
84895465707
-
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy
-
Navon Elkan P, Pierce SB, Segel R, Walsh T, Barash J, Padeh S, et al. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med. 2014;370(10):921–31.
-
(2014)
N Engl J Med
, vol.370
, Issue.10
, pp. 921-931
-
-
Navon Elkan, P.1
Pierce, S.B.2
Segel, R.3
Walsh, T.4
Barash, J.5
Padeh, S.6
-
44
-
-
84905825645
-
Activated STING in a vascular and pulmonary syndrome
-
Liu Y, Jesus AA, Marrero B, Yang D, Ramsey SE, Montealegre Sanchez GA, et al. Activated STING in a vascular and pulmonary syndrome. N Engl J Med. 2014;371(6):507–18.
-
(2014)
N Engl J Med
, vol.371
, Issue.6
, pp. 507-518
-
-
Liu, Y.1
Jesus, A.A.2
Marrero, B.3
Yang, D.4
Ramsey, S.E.5
Montealegre Sanchez, G.A.6
-
45
-
-
84905860730
-
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
-
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
-
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
-
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
-
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
-
50
-
-
84886572466
-
Rare variants in the TREX1 gene and susceptibility to autoimmune diseases
-
Barizzone N, Monti S, Mellone S, Godi M, Marchini M, Scorza R, et al. Rare variants in the TREX1 gene and susceptibility to autoimmune diseases. Biomed Res Int. 2013;2013:471703.
-
(2013)
Biomed Res Int
, vol.2013
, pp. 471703
-
-
Barizzone, N.1
Monti, S.2
Mellone, S.3
Godi, M.4
Marchini, M.5
Scorza, R.6
-
51
-
-
84919818808
-
Whole exome sequencing in early-onset cerebral SLE identifies a pathogenic variant in TREX1
-
Ellyard JI, Jerjen R, Martin JL, Lee A, Field MA, Jiang SH, et al. Whole exome sequencing in early-onset cerebral SLE identifies a pathogenic variant in TREX1. Arthritis & rheumatology. 2014.
-
(2014)
Arthritis & rheumatology
-
-
Ellyard, J.I.1
Jerjen, R.2
Martin, J.L.3
Lee, A.4
Field, M.A.5
Jiang, S.H.6
-
52
-
-
0344492212
-
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
-
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
-
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
-
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
-
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
-
57
-
-
79952194396
-
Novel ophthalmic pathology in an autopsy case of autosomal dominant retinal vasculopathy with cerebral leukodystrophy
-
Gruver AM, Schoenfield L, Coleman JF, Hajj-Ali R, Rodriguez ER, Tan CD. Novel ophthalmic pathology in an autopsy case of autosomal dominant retinal vasculopathy with cerebral leukodystrophy. J Neuroophthalmol Off J North Am Neuro-Ophthalmol Soc. 2011;31(1):20–4.
-
(2011)
J. Neuroophthalmol Off J North Am Neuro-Ophthalmol Soc
, vol.31
, Issue.1
, pp. 20-24
-
-
Gruver, A.M.1
Schoenfield, L.2
Coleman, J.F.3
Hajj-Ali, R.4
Rodriguez, E.R.5
Tan, C.D.6
-
58
-
-
84925486648
-
Multiple sclerosis-like lesions and type I interferon signature in a patient with RVCL
-
Schuh E, Ertl-Wagner B, Lohse P, Wolf W, Mann JF, Lee-Kirsch MA, et al. Multiple sclerosis-like lesions and type I interferon signature in a patient with RVCL. Neurology (R) neuroimmunology & neuroinflammation 2015 2 (1): e55.
-
(2015)
Neurology (R) neuroimmunology & neuroinflammation
, vol.2
, Issue.1
, pp. 55
-
-
Schuh, E.1
Ertl-Wagner, B.2
Lohse, P.3
Wolf, W.4
Mann, J.F.5
Lee-Kirsch, M.A.6
-
59
-
-
0033172887
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
New roles for the major human 3’-5’ exonuclease TREX1 in human disease
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COI: 1:CAS:528:DC%2BD1cXhtVehtLjJ
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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.
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(2008)
Cell Cycle
, vol.7
, Issue.12
, pp. 1718-1725
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Kavanagh, D.1
Spitzer, D.2
Kothari, P.H.3
Shaikh, A.4
Liszewski, M.K.5
Richards, A.6
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