-
1
-
-
0019250485
-
Interferon-induced disease in mice and rats
-
Gresser, I. et al. Interferon-induced disease in mice and rats. Ann. NY Acad. Sci. 350, 12-20 (1980).
-
(1980)
Ann. NY Acad. Sci.
, vol.350
, pp. 12-20
-
-
Gresser, I.1
-
2
-
-
0021336060
-
A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis
-
Aicardi, J. & Goutieres, F. A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann. Neurol. 15, 49-54 (1984).
-
(1984)
Ann. Neurol.
, vol.15
, pp. 49-54
-
-
Aicardi, J.1
Goutieres, F.2
-
3
-
-
0023873028
-
Intrathecal synthesis of interferon-α in infants with progressive familial encephalopathy
-
Lebon, P. et al. Intrathecal synthesis of interferon-α in infants with progressive familial encephalopathy. J. Neurol. Sci. 84, 201-208 (1988).
-
(1988)
J. Neurol. Sci.
, vol.84
, pp. 201-208
-
-
Lebon, P.1
-
4
-
-
0037338578
-
Cree encephalitis is allelic with Aicardi-Goutieres syndrome: Implications for the pathogenesis of disorders of interferon α metabolism
-
Crow, Y. J. et al. Cree encephalitis is allelic with Aicardi-Gouti?res syndrome: implications for the pathogenesis of disorders of interferon α metabolism. J. Med. Genet. 40, 183-187 (2003).
-
(2003)
J. Med. Genet.
, vol.40
, pp. 183-187
-
-
Crow, Y.J.1
-
5
-
-
33746581694
-
Mutations in the gene encoding the 3?-5? DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus
-
Crow, Y. J. et al. Mutations in the gene encoding the 3?-5? DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus. Nat. Genet. 38, 917-920 (2006).
-
(2006)
Nat. Genet.
, vol.38
, pp. 917-920
-
-
Crow, Y.J.1
-
6
-
-
33746522835
-
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection
-
Crow, Y. J. et al. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection. Nat. Genet. 38, 910-916 (2006).
-
(2006)
Nat. Genet.
, vol.38
, pp. 910-916
-
-
Crow, Y.J.1
-
7
-
-
67649861901
-
Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response
-
Rice, G. I. et al. Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response. Nat. Genet. 41, 829-832 (2009).
-
(2009)
Nat. Genet.
, vol.41
, pp. 829-832
-
-
Rice, G.I.1
-
8
-
-
84868207785
-
Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type i interferon signature
-
Rice, G. I. et al. Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature. Nat. Genet. 44, 1243-1248 (2012).
-
(2012)
Nat. Genet.
, vol.44
, pp. 1243-1248
-
-
Rice, G.I.1
-
9
-
-
84899495767
-
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type i interferon signaling
-
Rice, G. I. et al. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nat. Genet. 46, 503-509 (2014).
-
(2014)
Nat. Genet.
, vol.46
, pp. 503-509
-
-
Rice, G.I.1
-
10
-
-
84921417123
-
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
-
Crow, Y. J. et al. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am. J. Med. Genet. A 167A, 296-312 (2015).
-
(2015)
Am. J. Med. Genet. A.
, pp. 296-312
-
-
Crow, Y.J.1
-
11
-
-
0028972864
-
The Aicardi-Goutieres syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis
-
Tolmie, J. L., Shillito, P., Hughes-Benzie, R. & Stephenson, J. B. The Aicardi-Goutieres syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis). J. Med. Genet. 32, 881-884 (1995).
-
(1995)
J. Med. Genet.
, vol.32
, pp. 881-884
-
-
Tolmie, J.L.1
Shillito, P.2
Hughes-Benzie, R.3
Stephenson, J.B.4
-
12
-
-
4444299085
-
Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutieres syndrome
-
Crow, Y. J. et al. Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutieres syndrome. Am. J. Med. Genet. A 129A, 303-307 (2004).
-
(2004)
Am. J. Med. Genet. A.
, pp. 303-307
-
-
Crow, Y.J.1
-
13
-
-
0033915684
-
Familial systemic lupus erythematosus and congenital infection-like syndrome
-
Dale, R. C., Tang, S. P., Heckmatt, J. Z. & Tatnall, F. M. Familial systemic lupus erythematosus and congenital infection-like syndrome. Neuropediatrics 31, 155-158 (2000).
-
(2000)
Neuropediatrics
, vol.31
, pp. 155-158
-
-
Dale, R.C.1
Tang, S.P.2
Heckmatt, J.Z.3
Tatnall, F.M.4
-
14
-
-
82555192885
-
Type i interferonopathies: A novel set of inborn errors of immunity
-
Crow, Y. J. Type I interferonopathies: a novel set of inborn errors of immunity. Ann. NY Acad. Sci. 1238, 91-98 (2011).
-
(2011)
Ann. NY Acad. Sci.
, vol.1238
, pp. 91-98
-
-
Crow, Y.J.1
-
15
-
-
84908680759
-
Type i interferonopathies: Mendelian type i interferon up-regulation
-
Crow, Y. J. Type I interferonopathies: Mendelian type I interferon up-regulation. Curr. Opin. Immunol. 32, 7-12 (2014).
-
(2014)
Curr. Opin. Immunol.
, vol.32
, pp. 7-12
-
-
Crow, Y.J.1
-
16
-
-
79952786337
-
DICER1 deficit induces Alu RNA toxicity in age-related macular degeneration
-
Kaneko, H. et al. DICER1 deficit induces Alu RNA toxicity in age-related macular degeneration. Nature 471, 325-330 (2011).
-
(2011)
Nature
, vol.471
, pp. 325-330
-
-
Kaneko, H.1
-
17
-
-
84860883878
-
DICER1 loss and Alu RNA induce age-related macular degeneration via the NLRP3 inflammasome and MyD88
-
Tarallo, V. et al. DICER1 loss and Alu RNA induce age-related macular degeneration via the NLRP3 inflammasome and MyD88. Cell 149, 847-859 (2012).
-
(2012)
Cell
, vol.149
, pp. 847-859
-
-
Tarallo, V.1
-
18
-
-
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
-
Rice, G. I. 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. 12, 1159-1169 (2013).
-
(2013)
Lancet Neurol.
, vol.12
, pp. 1159-1169
-
-
Rice, G.I.1
-
19
-
-
0032211097
-
Transgenic expression of IFN-α in the central nervous system of mice protects against lethal neurotropic viral infection but induces inflammation and neurodegeneration
-
Akwa, Y. et al. Transgenic expression of IFN-α in the central nervous system of mice protects against lethal neurotropic viral infection but induces inflammation and neurodegeneration. J. Immunol. 161, 5016-5026 (1998).
-
(1998)
J. Immunol.
, vol.161
, pp. 5016-5026
-
-
Akwa, Y.1
-
20
-
-
4243453318
-
Endogenous interferon-α in newborns from HIV seropositive mothers
-
Krivine, A., Tovey, M., Taty-Taty, R. & Lebon, P. Endogenous interferon-α in newborns from HIV seropositive mothers. J. Interferon Res. 12, S151 (1992).
-
(1992)
J. Interferon Res.
, vol.12
, pp. S151
-
-
Krivine, A.1
Tovey, M.2
Taty-Taty, R.3
Lebon, P.4
-
21
-
-
0026753990
-
CT and MR evaluation of intracranial involvement in pediatric HIV infection: A clinical-imaging correlation
-
Kauffman, W. M. et al. CT and MR evaluation of intracranial involvement in pediatric HIV infection: a clinical-imaging correlation. AJNR Am. J. Neuroradiol. 13, 949-957 (1992).
-
(1992)
AJNR Am. J. Neuroradiol.
, vol.13
, pp. 949-957
-
-
Kauffman, W.M.1
-
22
-
-
0027179685
-
The prevalence of computed tomographic abnormalities of the cerebrum in 100 consecutive children symptomatic with the human immune deficiency virus
-
DeCarli, C., Civitello, L. A., Brouwers, P. & Pizzo, P. A. The prevalence of computed tomographic abnormalities of the cerebrum in 100 consecutive children symptomatic with the human immune deficiency virus. Ann. Neurol. 34, 198-205 (1993).
-
(1993)
Ann. Neurol.
, vol.34
, pp. 198-205
-
-
Decarli, C.1
Civitello, L.A.2
Brouwers, P.3
Pizzo, P.A.4
-
23
-
-
0034646363
-
HIV-1-related encephalopathy in infants compared with children and adults
-
Tardieu, M. et al. HIV-1-related encephalopathy in infants compared with children and adults. Neurology 54, 1089-1095 (2000).
-
(2000)
Neurology
, vol.54
, pp. 1089-1095
-
-
Tardieu, M.1
-
24
-
-
0036159761
-
Necrotizing cutaneous lesions complicating treatment with pegylated-interferon alfa in an HIV-infected patient
-
Bessis, D. et al. Necrotizing cutaneous lesions complicating treatment with pegylated-interferon alfa in an HIV-infected patient. Eur. J. Dermatol. 12, 99-102 (2002).
-
(2002)
Eur. J. Dermatol.
, vol.12
, pp. 99-102
-
-
Bessis, D.1
-
25
-
-
0025057503
-
Possible induction of systemic lupus erythematosus by interferon-α treatment in a patient with a malignant carcinoid tumour
-
Ronnblom, L. E., Alm, G. V. & Oberg, K. E. Possible induction of systemic lupus erythematosus by interferon-α treatment in a patient with a malignant carcinoid tumour. J. Intern. Med. 227, 207-210 (1990).
-
(1990)
J. Intern. Med.
, vol.227
, pp. 207-210
-
-
Ronnblom, L.E.1
Alm, G.V.2
Oberg, K.E.3
-
26
-
-
0035072155
-
Development of glaucoma in the course of interferon α therapy for chronic hepatitis B
-
Kwon, Y. S., Choe, Y. H. & Chin, H. S. Development of glaucoma in the course of interferon α therapy for chronic hepatitis B. Yonsei Med. J. 42, 134-136 (2001).
-
(2001)
Yonsei Med. J.
, vol.42
, pp. 134-136
-
-
Kwon, Y.S.1
Choe, Y.H.2
Chin, H.S.3
-
27
-
-
77950400643
-
Aicardi-Goutieres syndrome and related phenotypes: Linking nucleic acid metabolism with autoimmunity
-
Crow, Y. J. & Rehwinkel, J. Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. Hum. Mol. Genet. 18, R130-R136 (2009).
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. R130-R136
-
-
Crow, Y.J.1
Rehwinkel, J.2
-
28
-
-
49549100511
-
Trex1 prevents cell-intrinsic initiation of autoimmunity
-
Stetson, D. B., Ko, J. S., Heidmann, T. & Medzhitov, R. Trex1 prevents cell-intrinsic initiation of autoimmunity. Cell 134, 587-598 (2008).
-
(2008)
Cell
, vol.134
, pp. 587-598
-
-
Stetson, D.B.1
Ko, J.S.2
Heidmann, T.3
Medzhitov, R.4
-
29
-
-
84856301080
-
Autoimmunity initiates in nonhematopoietic cells and progresses via lymphocytes in an interferon-dependent autoimmune disease
-
Gall, A. et al. Autoimmunity initiates in nonhematopoietic cells and progresses via lymphocytes in an interferon-dependent autoimmune disease. Immunity 36, 120-131 (2012).
-
(2012)
Immunity
, vol.36
, pp. 120-131
-
-
Gall, A.1
-
30
-
-
18144395424
-
Genetic syndromes mimic congenital infections
-
Sanchis, A. et al. Genetic syndromes mimic congenital infections. J. Pediatr. 146, 701-705 (2005).
-
(2005)
J. Pediatr.
, vol.146
, pp. 701-705
-
-
Sanchis, A.1
-
31
-
-
84861578543
-
Enzymatic removal of ribonucleotides from DNA is essential for mammalian genome integrity and development
-
Reijns, M. A. et al. Enzymatic removal of ribonucleotides from DNA is essential for mammalian genome integrity and development. Cell 149, 1008-1022 (2012).
-
(2012)
Cell
, vol.149
, pp. 1008-1022
-
-
Reijns, M.A.1
-
32
-
-
84866462296
-
Mammalian RNase H2 removes ribonucleotides from DNA to maintain genome integrity
-
Hiller, B. et al. Mammalian RNase H2 removes ribonucleotides from DNA to maintain genome integrity. J. Exp. Med. 209, 1419-1426 (2012).
-
(2012)
J. Exp. Med.
, vol.209
, pp. 1419-1426
-
-
Hiller, B.1
-
33
-
-
57849095116
-
RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleases
-
Perrino, F. W., Harvey, S., Shaban, N. M. & Hollis, T. RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleases. J. Mol. Med. (Berl.) 87, 25-30 (2009).
-
(2009)
J. Mol. Med. (Berl.)
, vol.87
, pp. 25-30
-
-
Perrino, F.W.1
Harvey, S.2
Shaban, N.M.3
Hollis, T.4
-
34
-
-
84898636091
-
RNA:DNA hybrids are a novel molecular pattern sensed by TLR9
-
Rigby, R. E. et al. RNA:DNA hybrids are a novel molecular pattern sensed by TLR9. EMBO J. 33, 542-558 (2014).
-
(2014)
EMBO J.
, vol.33
, pp. 542-558
-
-
Rigby, R.E.1
-
35
-
-
84918823623
-
Cytosolic RNA:DNA hybrids activate the cGAS-STING axis
-
Mankan, A. K. et al. Cytosolic RNA:DNA hybrids activate the cGAS-STING axis. EMBO J. 33, 2937-2946 (2014).
-
(2014)
EMBO J.
, vol.33
, pp. 2937-2946
-
-
Mankan, A.K.1
-
36
-
-
84884291057
-
SAMHD1-dependent retroviral control and escape in mice
-
Rehwinkel, J. et al. SAMHD1-dependent retroviral control and escape in mice. EMBO J. 32, 2454-2462 (2013).
-
(2013)
EMBO J.
, vol.32
, pp. 2454-2462
-
-
Rehwinkel, J.1
-
37
-
-
84883277795
-
Mouse SAMHD1 has antiretroviral activity and suppresses a spontaneous cell-intrinsic antiviral response
-
Behrendt, R. et al. Mouse SAMHD1 has antiretroviral activity and suppresses a spontaneous cell-intrinsic antiviral response. Cell Rep. 4, 689-696 (2013).
-
(2013)
Cell Rep.
, vol.4
, pp. 689-696
-
-
Behrendt, R.1
-
38
-
-
83555164881
-
HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase
-
Goldstone, D. C. et al. HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase. Nature 480, 379-382 (2011).
-
(2011)
Nature
, vol.480
, pp. 379-382
-
-
Goldstone, D.C.1
-
39
-
-
79959843617
-
SAMHD1 is the dendritic-And myeloid-cell-specific HIV-1 restriction factor counteracted by Vpx
-
Laguette, N. et al. SAMHD1 is the dendritic-And myeloid-cell-specific HIV-1 restriction factor counteracted by Vpx. Nature 474, 654-657 (2011).
-
(2011)
Nature
, vol.474
, pp. 654-657
-
-
Laguette, N.1
-
40
-
-
84905732218
-
The ribonuclease activity of SAMHD1 is required for HIV-1 restriction
-
Ryoo, J. et al. The ribonuclease activity of SAMHD1 is required for HIV-1 restriction. Nat. Med. 20, 936-941 (2014).
-
(2014)
Nat. Med.
, vol.20
, pp. 936-941
-
-
Ryoo, J.1
-
41
-
-
57849136005
-
ADAR1 is essential for the maintenance of hematopoiesis and suppression of interferon signaling
-
Hartner, J. C., Walkley, C. R., Lu, J. & Orkin, S. H. ADAR1 is essential for the maintenance of hematopoiesis and suppression of interferon signaling. Nat. Immunol. 10, 109-115 (2009).
-
(2009)
Nat. Immunol.
, vol.10
, pp. 109-115
-
-
Hartner, J.C.1
Walkley, C.R.2
Lu, J.3
Orkin, S.H.4
-
42
-
-
84912098781
-
The RNA-editing enzyme ADAR1 controls innate immune responses to RNA
-
Mannion, N. M. et al. The RNA-editing enzyme ADAR1 controls innate immune responses to RNA. Cell Rep. 9, 1482-1494 (2014).
-
(2014)
Cell Rep.
, vol.9
, pp. 1482-1494
-
-
Mannion, N.M.1
-
43
-
-
77956341106
-
Double-stranded RNAs containing multiple IU pairs are sufficient to suppress interferon induction and apoptosis
-
Vitali, P. & Scadden, A. D. Double-stranded RNAs containing multiple IU pairs are sufficient to suppress interferon induction and apoptosis. Nat. Struct. Mol. Biol. 17, 1043-1050 (2010).
-
(2010)
Nat. Struct. Mol. Biol.
, vol.17
, pp. 1043-1050
-
-
Vitali, P.1
Scadden, A.D.2
-
44
-
-
84894028950
-
Autoimmune disorders associated with gain of function of the intracellular sensor MDA5
-
Funabiki, M. et al. Autoimmune disorders associated with gain of function of the intracellular sensor MDA5. Immunity 40, 199-212 (2014).
-
(2014)
Immunity
, vol.40
, pp. 199-212
-
-
Funabiki, M.1
-
45
-
-
84904004005
-
Aicardi-Goutieres syndrome is caused by IFIH1 mutations
-
Oda, H. et al. Aicardi-Goutieres syndrome is caused by IFIH1 mutations. Am. J. Hum. Genet. 95, 121-125 (2014).
-
(2014)
Am. J. Hum. Genet.
, vol.95
, pp. 121-125
-
-
Oda, H.1
-
46
-
-
36248988008
-
Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease
-
Yang, Y. G., Lindahl, T. & Barnes, D. E. Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease. Cell 131, 873-886 (2007).
-
(2007)
Cell
, vol.131
, pp. 873-886
-
-
Yang, Y.G.1
Lindahl, T.2
Barnes, D.E.3
-
47
-
-
84922470690
-
Reduction of hRNase H2 activity in Aicardi-Goutieres syndrome cells leads to replication stress and genome instability
-
Pizzi, S. et al. Reduction of hRNase H2 activity in Aicardi-Goutieres syndrome cells leads to replication stress and genome instability. Hum. Mol. Genet. 24, 649-658 (2014).
-
(2014)
Hum. Mol. Genet.
, vol.24
, pp. 649-658
-
-
Pizzi, S.1
-
48
-
-
84908699157
-
Altered spatio-Temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi-Goutieres syndrome
-
Kind, B. et al. Altered spatio-Temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi-Goutieres syndrome. Hum. Mol. Genet. 23, 5950-5960 (2014).
-
(2014)
Hum. Mol. Genet.
, vol.23
, pp. 5950-5960
-
-
Kind, B.1
-
49
-
-
84920413492
-
Defective removal of ribonucleotides from DNA promotes systemic autoimmunity
-
Gunther, C. et al. Defective removal of ribonucleotides from DNA promotes systemic autoimmunity. J. Clin. Invest. 125, 413-424 (2014).
-
(2014)
J. Clin. Invest.
, vol.125
, pp. 413-424
-
-
Gunther, C.1
-
50
-
-
84926665256
-
SAMHD1 prevents autoimmunity by maintaining genome stability
-
Kretschmer, S. et al. SAMHD1 prevents autoimmunity by maintaining genome stability. Ann. Rheum. Dis. 74, e17 (2014).
-
(2014)
Ann. Rheum. Dis.
, vol.74
, pp. e17
-
-
Kretschmer, S.1
-
51
-
-
84897585594
-
SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage
-
Clifford, R. et al. SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage. Blood 123, 1021-1031 (2014).
-
(2014)
Blood
, vol.123
, pp. 1021-1031
-
-
Clifford, R.1
-
52
-
-
84874102335
-
Evolution and impact of subclonal mutations in chronic lymphocytic leukemia
-
Landau, D. A. et al. Evolution and impact of subclonal mutations in chronic lymphocytic leukemia. Cell 152, 714-726 (2013).
-
(2013)
Cell
, vol.152
, pp. 714-726
-
-
Landau, D.A.1
-
53
-
-
84875224757
-
DNA-PK is a DNA sensor for IRF-3-dependent innate immunity
-
Ferguson, B. J., Mansur, D. S., Peters, N. E., Ren, H. & Smith, G. L. DNA-PK is a DNA sensor for IRF-3-dependent innate immunity. eLife 1, e00047 (2012).
-
(2012)
ELife
, vol.1
, pp. e00047
-
-
Ferguson, B.J.1
Mansur, D.S.2
Peters, N.E.3
Ren, H.4
Smith, G.L.5
-
54
-
-
84892799863
-
Premature activation of the SLX4 complex by Vpr promotes G2/M arrest and escape from innate immune sensing
-
Laguette, N. et al. Premature activation of the SLX4 complex by Vpr promotes G2/M arrest and escape from innate immune sensing. Cell 156, 134-145 (2014).
-
(2014)
Cell
, vol.156
, pp. 134-145
-
-
Laguette, N.1
-
55
-
-
84922986861
-
DNA damage primes the type i interferon system via the cytosolic DNA sensor STING to promote anti-microbial innate immunity
-
Hartlova, A. et al. DNA damage primes the type I interferon system via the cytosolic DNA sensor STING to promote anti-microbial innate immunity. Immunity 42, 332-343 (2015).
-
(2015)
Immunity
, vol.42
, pp. 332-343
-
-
Hartlova, A.1
-
56
-
-
43849107357
-
Do all of the neurologic diseases in patients with DNA repair gene mutations result from the accumulation of DNA damage?
-
Brooks, P. J., Cheng, T. F. & Cooper, L. Do all of the neurologic diseases in patients with DNA repair gene mutations result from the accumulation of DNA damage?. DNA Repair (Amst.) 7, 834-848 (2008).
-
(2008)
DNA Repair (Amst.)
, vol.7
, pp. 834-848
-
-
Brooks, P.J.1
Cheng, T.F.2
Cooper, L.3
-
57
-
-
77958114725
-
The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1
-
Yan, N., Regalado-Magdos, A. D., Stiggelbout, B., Lee-Kirsch, M. A. & Lieberman, J. The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1. Nat. Immunol. 11, 1005-1013 (2010).
-
(2010)
Nat. Immunol.
, vol.11
, pp. 1005-1013
-
-
Yan, N.1
Regalado-Magdos, A.D.2
Stiggelbout, B.3
Lee-Kirsch, M.A.4
Lieberman, J.5
-
58
-
-
79959858243
-
Vpx relieves inhibition of HIV-1 infection of macrophages mediated by the SAMHD1 protein
-
Hrecka, K. et al. Vpx relieves inhibition of HIV-1 infection of macrophages mediated by the SAMHD1 protein. Nature 474, 658-661 (2011).
-
(2011)
Nature
, vol.474
, pp. 658-661
-
-
Hrecka, K.1
-
59
-
-
77956497003
-
A cryptic sensor for HIV-1 activates antiviral innate immunity in dendritic cells
-
Manel, N. et al. A cryptic sensor for HIV-1 activates antiviral innate immunity in dendritic cells. Nature 467, 214-217 (2010).
-
(2010)
Nature
, vol.467
, pp. 214-217
-
-
Manel, N.1
-
60
-
-
84890215093
-
The capsids of HIV-1 and HIV-2 determine immune detection of the viral cDNA by the innate sensor cGAS in dendritic cells
-
Lahaye, X. et al. The capsids of HIV-1 and HIV-2 determine immune detection of the viral cDNA by the innate sensor cGAS in dendritic cells. Immunity 39, 1132-1142 (2013).
-
(2013)
Immunity
, vol.39
, pp. 1132-1142
-
-
Lahaye, X.1
-
61
-
-
84884590112
-
Modulation of LINE-1 and Alu/SVA retrotransposition by Aicardi-Goutieres syndrome-related SAMHD1
-
Zhao, K. et al. Modulation of LINE-1 and Alu/SVA retrotransposition by Aicardi-Goutieres syndrome-related SAMHD1. Cell Rep. 4, 1108-1115 (2013).
-
(2013)
Cell Rep.
, vol.4
, pp. 1108-1115
-
-
Zhao, K.1
-
62
-
-
80053490751
-
Automated genome-wide visual profiling of cellular proteins involved in HIV infection
-
Genovesio, A. et al. Automated genome-wide visual profiling of cellular proteins involved in HIV infection. J. Biomol. Screen. 16, 945-958 (2011).
-
(2011)
J. Biomol. Screen.
, vol.16
, pp. 945-958
-
-
Genovesio, A.1
-
63
-
-
84899112356
-
The enemy within: Endogenous retroelements and autoimmune disease
-
Volkman, H. E. & Stetson, D. B. The enemy within: endogenous retroelements and autoimmune disease. Nat. Immunol. 15, 415-422 (2014).
-
(2014)
Nat. Immunol.
, vol.15
, pp. 415-422
-
-
Volkman, H.E.1
Stetson, D.B.2
-
64
-
-
84919443956
-
MAVS, cGAS, and endogenous retroviruses in T-independent B cell responses
-
Zeng, M. et al. MAVS, cGAS, and endogenous retroviruses in T-independent B cell responses. Science 346, 1486-1492 (2014).
-
(2014)
Science
, vol.346
, pp. 1486-1492
-
-
Zeng, M.1
-
65
-
-
84918495491
-
Human genomics. Sleeping dogs of the genome
-
Gorbunova, V., Boeke, J. D., Helfand, S. L. & Sedivy, J. M. Human genomics. Sleeping dogs of the genome. Science 346, 1187-1188 (2014).
-
(2014)
Science
, vol.346
, pp. 1187-1188
-
-
Gorbunova, V.1
Boeke, J.D.2
Helfand, S.L.3
Sedivy, J.M.4
-
66
-
-
84927720839
-
Type i interferon controls propagation of long interspersed element-1
-
Yu, Q. et al. Type I interferon controls propagation of long interspersed element-1. J. Biol. Chem. 290, 10191-10199 (2015).
-
(2015)
J. Biol. Chem.
, vol.290
, pp. 10191-10199
-
-
Yu, Q.1
-
67
-
-
80455174404
-
An autoimmune disease prevented by anti-retroviral drugs
-
Beck-Engeser, G. B., Eilat, D. & Wabl, M. An autoimmune disease prevented by anti-retroviral drugs. Retrovirology 8, 91 (2011).
-
(2011)
Retrovirology
, vol.8
, Issue.91
-
-
Beck-Engeser, G.B.1
Eilat, D.2
Wabl, M.3
-
68
-
-
0018775078
-
Immune interferon in the circulation of patients with autoimmune disease
-
Hooks, J. J. et al. Immune interferon in the circulation of patients with autoimmune disease. N. Engl. J. Med. 301, 5-8 (1979).
-
(1979)
N. Engl. J. Med.
, vol.301
, pp. 5-8
-
-
Hooks, J.J.1
-
69
-
-
33749006867
-
Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p
-
Lee-Kirsch, M. A. et al. Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p. Am. J. Hum. Genet. 79, 731-737 (2006).
-
(2006)
Am. J. Hum. Genet.
, vol.79
, pp. 731-737
-
-
Lee-Kirsch, M.A.1
-
70
-
-
78650658122
-
Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus
-
Ravenscroft, J. C., Suri, M., Rice, G. I., Szynkiewicz, M. & Crow, Y. J. Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. Am. J. Med. Genet. A 155A, 235-237 (2011).
-
(2011)
Am. J. Med. Genet. A.
, pp. 235-237
-
-
Ravenscroft, J.C.1
Suri, M.2
Rice, G.I.3
Szynkiewicz, M.4
Crow, Y.J.5
-
71
-
-
79251551861
-
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type i interferon expression signature
-
Briggs, T. A. et al. Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nat. Genet. 43, 127-131 (2011).
-
(2011)
Nat. Genet.
, vol.43
, pp. 127-131
-
-
Briggs, T.A.1
-
72
-
-
34548327158
-
Mutations in the gene encoding the 3?-5? DNA exonuclease TREX1 are associated with systemic lupus erythematosus
-
Lee-Kirsch, M. A. et al. Mutations in the gene encoding the 3?-5? DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat. Genet. 39, 1065-1067 (2007).
-
(2007)
Nat. Genet.
, vol.39
, pp. 1065-1067
-
-
Lee-Kirsch, M.A.1
-
73
-
-
84911997231
-
Identification of a pathogenic variant in TREX1 in early-onset cerebral systemic lupus erythematosus by whole-exome sequencing
-
Ellyard, J. I. et al. Identification of a pathogenic variant in TREX1 in early-onset cerebral systemic lupus erythematosus by whole-exome sequencing. Arthritis Rheuml. 66, 3382-3386 (2014).
-
(2014)
Arthritis Rheuml.
, vol.66
, pp. 3382-3386
-
-
Ellyard, J.I.1
-
74
-
-
84878344482
-
Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy
-
Troedson, C. et al. Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy. Lupus 22, 639-643 (2013).
-
(2013)
Lupus
, vol.22
, pp. 639-643
-
-
Troedson, C.1
-
75
-
-
84891748872
-
Successful cure of C1q deficiency in human subjects treated with hematopoietic stem cell transplantation
-
Arkwright, P. D., Riley, P., Hughes, S. M., Alachkar, H. & Wynn, R. F. Successful cure of C1q deficiency in human subjects treated with hematopoietic stem cell transplantation. J. Allergy Clin. Immunol. 133, 265-267 (2014).
-
(2014)
J. Allergy Clin. Immunol.
, vol.133
, pp. 265-267
-
-
Arkwright, P.D.1
Riley, P.2
Hughes, S.M.3
Alachkar, H.4
Wynn, R.F.5
-
76
-
-
70349769369
-
C1q inhibits immune complex-induced interferon-α production in plasmacytoid dendritic cells: A novel link between C1q deficiency and systemic lupus erythematosus pathogenesis
-
Lood, C. et al. C1q inhibits immune complex-induced interferon-α production in plasmacytoid dendritic cells: a novel link between C1q deficiency and systemic lupus erythematosus pathogenesis. Arthritis Rheum. 60, 3081-3090 (2009).
-
(2009)
Arthritis Rheum.
, vol.60
, pp. 3081-3090
-
-
Lood, C.1
-
77
-
-
78049496573
-
C1q deficiency leads to the defective suppression of IFN-α in response to nucleoprotein containing immune complexes
-
Santer, D. M. et al. C1q deficiency leads to the defective suppression of IFN-α in response to nucleoprotein containing immune complexes. J. Immunol. 185, 4738-4749 (2010).
-
(2010)
J. Immunol.
, vol.185
, pp. 4738-4749
-
-
Santer, D.M.1
-
78
-
-
84905825645
-
Activated STING in a vascular and pulmonary syndrome
-
Liu, Y. et al. Activated STING in a vascular and pulmonary syndrome. N. Engl. J. Med. 371, 507-518 (2014).
-
(2014)
N. Engl. J. Med.
, vol.371
, pp. 507-518
-
-
Liu, Y.1
-
79
-
-
84915745085
-
Inherited STING-Activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations
-
Jeremiah, N. et al. Inherited STING-Activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations. J. Clin. Invest. 124, 5516-5520 (2014).
-
(2014)
J. Clin. Invest.
, vol.124
, pp. 5516-5520
-
-
Jeremiah, N.1
-
80
-
-
84908120748
-
Intrinsic self-DNA triggers inflammatory disease dependent on STING
-
Ahn, J., Ruiz, P. & Barber, G. N. Intrinsic self-DNA triggers inflammatory disease dependent on STING. J. Immunol. 193, 4634-4642 (2014).
-
(2014)
J. Immunol.
, vol.193
, pp. 4634-4642
-
-
Ahn, J.1
Ruiz, P.2
Barber, G.N.3
-
81
-
-
84924164221
-
A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome
-
Rutsch, F. et al. A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. Am. J. Hum. Genet. 96, 275-282 (2015).
-
(2015)
Am. J. Hum. Genet.
, vol.96
, pp. 275-282
-
-
Rutsch, F.1
-
82
-
-
84908192059
-
Antiviral immunity via RIG-I-mediated recognition of RNA bearing 5?-diphosphates
-
Goubau, D. et al. Antiviral immunity via RIG-I-mediated recognition of RNA bearing 5?-diphosphates. Nature 514, 372-375 (2014).
-
(2014)
Nature
, vol.514
, pp. 372-375
-
-
Goubau, D.1
-
83
-
-
84925137606
-
Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome
-
Jang, M. A. et al. Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome. Am. J. Hum. Genet. 96, 266-274 (2015).
-
(2015)
Am. J. Hum. Genet.
, vol.96
, pp. 266-274
-
-
Jang, M.A.1
-
84
-
-
84922880395
-
Human intracellular ISG15 prevents interferon-α/β over-Amplification and auto-inflammation
-
Zhang, X. et al. Human intracellular ISG15 prevents interferon-α/β over-Amplification and auto-inflammation. Nature 517, 89-93 (2015).
-
(2015)
Nature
, vol.517
, pp. 89-93
-
-
Zhang, X.1
-
85
-
-
84866748115
-
Mycobacterial disease and impaired IFN immunity in humans with inherited ISG15 deficiency
-
Bogunovic, D. et al. Mycobacterial disease and impaired IFN-? immunity in humans with inherited ISG15 deficiency. Science 337, 1684-1688 (2012).
-
(2012)
Science
, vol.337
, pp. 1684-1688
-
-
Bogunovic, D.1
-
86
-
-
79960313095
-
USP18-based negative feedback control is induced by type i and type III interferons and specifically inactivates interferon α response
-
Francois-Newton, V. et al. USP18-based negative feedback control is induced by type I and type III interferons and specifically inactivates interferon α response. PLoS ONE 6, e22200 (2011).
-
(2011)
PLoS ONE
, vol.6
, pp. e22200
-
-
Francois-Newton, V.1
-
87
-
-
78649775528
-
PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome
-
Agarwal, A. K. et al. PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. Am. J. Hum. Genet. 87, 866-872 (2010).
-
(2010)
Am. J. Hum. Genet.
, vol.87
, pp. 866-872
-
-
Agarwal, A.K.1
-
88
-
-
84863232739
-
Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity
-
Liu, Y. et al. Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. Arthritis Rheum. 64, 895-907 (2012).
-
(2012)
Arthritis Rheum.
, vol.64
, pp. 895-907
-
-
Liu, Y.1
-
89
-
-
78649558302
-
Immunoproteasomes are essential for survival and expansion of T cells in virus-infected mice
-
Moebius, J., van den Broek, M., Groettrup, M. & Basler, M. Immunoproteasomes are essential for survival and expansion of T cells in virus-infected mice. Eur. J. Immunol. 40, 3439-3449 (2010).
-
(2010)
Eur. J. Immunol.
, vol.40
, pp. 3439-3449
-
-
Moebius, J.1
Van Den Broek, M.2
Groettrup, M.3
Basler, M.4
-
90
-
-
77955145461
-
Intracerebral large artery disease in Aicardi-Goutieres syndrome implicates SAMHD1 in vascular homeostasis
-
Ramesh, V. et al. Intracerebral large artery disease in Aicardi-Goutieres syndrome implicates SAMHD1 in vascular homeostasis. Dev. Med. Child Neurol. 52, 725-732 (2010).
-
(2010)
Dev. Med. Child Neurol.
, vol.52
, pp. 725-732
-
-
Ramesh, V.1
-
91
-
-
84894063757
-
A type i interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1
-
Livingston, J. H. et al. A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. J. Med. Genet. 51, 76-82 (2014).
-
(2014)
J. Med. Genet.
, vol.51
, pp. 76-82
-
-
Livingston, J.H.1
-
92
-
-
84872919278
-
Striking intrafamilial phenotypic variability in Aicardi-Goutieres syndrome associated with the recurrent Asian founder mutation in RNASEH2C
-
Vogt, J. et al. Striking intrafamilial phenotypic variability in Aicardi-Goutieres syndrome associated with the recurrent Asian founder mutation in RNASEH2C. Am. J. Med. Genet. A 161A, 338-342 (2013).
-
(2013)
Am. J. Med. Genet. A.
, pp. 338-342
-
-
Vogt, J.1
-
93
-
-
77951737544
-
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutieres syndrome
-
Ramantani, G. et al. Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutieres syndrome. Arthritis Rheum. 62, 1469-1477 (2010).
-
(2010)
Arthritis Rheum.
, vol.62
, pp. 1469-1477
-
-
Ramantani, G.1
-
94
-
-
84929920092
-
IFIH1 mutation causes systemic lupus erythematosus with selective IgA-deficiency
-
Van Eyck, L. et al. IFIH1 mutation causes systemic lupus erythematosus with selective IgA-deficiency. Arthritis Rheuml. http://dx.doi.org/10.1002/art.39110 (2015).
-
(2015)
Arthritis Rheuml.
-
-
Van Eyck, L.1
-
95
-
-
35349019691
-
Clinical and molecular phenotype of Aicardi-Goutieres syndrome
-
Rice, G. et al. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am. J. Hum. Genet. 81, 713-725 (2007).
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 713-725
-
-
Rice, G.1
-
96
-
-
79251564299
-
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity
-
Lausch, E. et al. Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat. Genet. 43, 132-137 (2011).
-
(2011)
Nat. Genet.
, vol.43
, pp. 132-137
-
-
Lausch, E.1
-
97
-
-
33748367018
-
A proposed classification of the immunological diseases
-
McGonagle, D. & McDermott, M. F. A proposed classification of the immunological diseases. PLoS Med. 3, e297 (2006).
-
(2006)
PLoS Med.
, vol.3
, pp. e297
-
-
McGonagle, D.1
McDermott, M.F.2
-
98
-
-
84906230645
-
The SKIV2L RNA exosome limits activation of the RIG-I-like receptors
-
Eckard, S. C. et al. The SKIV2L RNA exosome limits activation of the RIG-I-like receptors. Nat. Immunol. 15, 839-845 (2014).
-
(2014)
Nat. Immunol.
, vol.15
, pp. 839-845
-
-
Eckard, S.C.1
-
99
-
-
84919884654
-
Apoptotic caspases suppress mtDNA-induced STING-mediated type i IFN production
-
White, M. J. et al. Apoptotic caspases suppress mtDNA-induced STING-mediated type I IFN production. Cell 159, 1549-1562 (2014).
-
(2014)
Cell
, vol.159
, pp. 1549-1562
-
-
White, M.J.1
-
100
-
-
84928537166
-
Mitochondrial DNA stress primes the antiviral innate immune response
-
West, A. P. et al. Mitochondrial DNA stress primes the antiviral innate immune response. Nature http://dx.doi.org/10.1038/nature14156 (2015).
-
(2015)
Nature
-
-
West, A.P.1
-
101
-
-
34548438559
-
High serum IFN-α activity is a heritable risk factor for systemic lupus erythematosus
-
Niewold, T. B., Hua, J., Lehman, T. J., Harley, J. B. & Crow, M. K. High serum IFN-α activity is a heritable risk factor for systemic lupus erythematosus. Genes Immun. 8, 492-502 (2007).
-
(2007)
Genes Immun.
, vol.8
, pp. 492-502
-
-
Niewold, T.B.1
Hua, J.2
Lehman, T.J.3
Harley, J.B.4
Crow, M.K.5
-
102
-
-
84898728217
-
Interferon-stimulated genes: Roles in viral pathogenesis
-
Schoggins, J. W. Interferon-stimulated genes: roles in viral pathogenesis. Curr. Opin. Virol. 6, 40-46 (2014).
-
(2014)
Curr. Opin. Virol.
, vol.6
, pp. 40-46
-
-
Schoggins, J.W.1
-
103
-
-
84876267465
-
Elevation of proinflammatory cytokines in patients with Aicardi-Goutieres syndrome
-
Takanohashi, A. et al. Elevation of proinflammatory cytokines in patients with Aicardi-Goutieres syndrome. Neurology 80, 997-1002 (2013).
-
(2013)
Neurology
, vol.80
, pp. 997-1002
-
-
Takanohashi, A.1
-
104
-
-
84942855451
-
Aicardi-Goutieres syndrome harbours abundant systemic and brain-reactive autoantibodies
-
Cuadrado, E. et al. Aicardi-Goutieres syndrome harbours abundant systemic and brain-reactive autoantibodies. Ann. Rheum. Dis. http://dx.doi. org/10.1136/annrheumdis-2014-205396 (2014).
-
(2014)
Ann. Rheum. Dis.
-
-
Cuadrado, E.1
-
105
-
-
84888880113
-
Therapies in Aicardi-Goutieres syndrome
-
Crow, Y. J., Vanderver, A., Orcesi, S., Kuijpers, T. W. & Rice, G. I. Therapies in Aicardi-Goutieres syndrome. Clin. Exp. Immunol. 175, 1-8 (2014).
-
(2014)
Clin. Exp. Immunol.
, vol.175
, pp. 1-8
-
-
Crow, Y.J.1
Vanderver, A.2
Orcesi, S.3
Kuijpers, T.W.4
Rice, G.I.5
-
106
-
-
84884333427
-
Oxidative damage of DNA confers resistance to cytosolic nuclease TREX1 degradation and potentiates STING-dependent immune sensing
-
Gehrke, N. et al. Oxidative damage of DNA confers resistance to cytosolic nuclease TREX1 degradation and potentiates STING-dependent immune sensing. Immunity 39, 482-495 (2013).
-
(2013)
Immunity
, vol.39
, pp. 482-495
-
-
Gehrke, N.1
|