-
1
-
-
82555196095
-
Systemic lupus erythematosus
-
COI: 1:CAS:528:DC%2BC3MXhs1Sku7rP, PID: 22129255
-
Tsokos GC. Systemic lupus erythematosus. N Engl J Med. 2011;365:2110–21. doi:10.1056/NEJMra1100359.
-
(2011)
N Engl J Med
, vol.365
, pp. 2110-2121
-
-
Tsokos, G.C.1
-
2
-
-
2042471152
-
Familial occurrence of systemic lupus erthematosus
-
COI: 1:STN:280:DyaF3c7nsVSnsg%3D%3D, PID: 14421350
-
Marlow AA, Peabody Jr HD, Nickel WR. Familial occurrence of systemic lupus erthematosus. JAMA. 1960;173:1641–3.
-
(1960)
JAMA
, vol.173
, pp. 1641-1643
-
-
Marlow, A.A.1
Peabody, H.D.2
Nickel, W.R.3
-
3
-
-
0015529237
-
Lupus-erythematosus-like syndrome with a familial defect of complement
-
COI: 1:STN:280:DyaE387hslWlsg%3D%3D, PID: 4110615
-
Moncada B, Day NK, Good RA, Windhorst DB. Lupus-erythematosus-like syndrome with a familial defect of complement. N Engl J Med. 1972;286:689–93. doi:10.1056/NEJM197203302861304.
-
(1972)
N Engl J Med
, vol.286
, pp. 689-693
-
-
Moncada, B.1
Day, N.K.2
Good, R.A.3
Windhorst, D.B.4
-
4
-
-
0015309257
-
Hereditary C2 deficiency with some manifestations of systemic lupus erythematosus
-
COI: 1:STN:280:DyaE387jt1GgtQ%3D%3D, PID: 4110990
-
Agnello V, De Bracco MM, Kunkel HG. Hereditary C2 deficiency with some manifestations of systemic lupus erythematosus. J Immunol. 1972;108:837–40.
-
(1972)
J Immunol
, vol.108
, pp. 837-840
-
-
Agnello, V.1
De Bracco, M.M.2
Kunkel, H.G.3
-
5
-
-
0033752720
-
Systemic lupus erythematosus, complement deficiency, and apoptosis
-
COI: 1:CAS:528:DC%2BD3cXosFSju7k%3D, PID: 11079100
-
Pickering MC, Botto M, Taylor PR, Lachmann PJ, Walport MJ. Systemic lupus erythematosus, complement deficiency, and apoptosis. Adv Immunol. 2000;76:227–324.
-
(2000)
Adv Immunol
, vol.76
, pp. 227-324
-
-
Pickering, M.C.1
Botto, M.2
Taylor, P.R.3
Lachmann, P.J.4
Walport, M.J.5
-
6
-
-
80053627280
-
Clinical presentations and molecular basis of complement C1r deficiency in a male African-American patient with systemic lupus erythematosus
-
COI: 1:CAS:528:DC%2BC3MXhsVCnsLnO, PID: 21784777
-
Wu YL, Brookshire BP, Verani RR, Arnett FC, Yu CY. Clinical presentations and molecular basis of complement C1r deficiency in a male African-American patient with systemic lupus erythematosus. Lupus. 2011;20:1126–34. doi:10.1177/0961203311404914.
-
(2011)
Lupus
, vol.20
, pp. 1126-1134
-
-
Wu, Y.L.1
Brookshire, B.P.2
Verani, R.R.3
Arnett, F.C.4
Yu, C.Y.5
-
7
-
-
38949191647
-
Genetic analysis of complement C1s deficiency associated with systemic lupus erythematosus highlights alternative splicing of normal C1s gene
-
COI: 1:CAS:528:DC%2BD1cXhvFOqtro%3D, PID: 18062908
-
Amano MT et al. Genetic analysis of complement C1s deficiency associated with systemic lupus erythematosus highlights alternative splicing of normal C1s gene. Mol Immunol. 2008;45:1693–702. doi:10.1016/j.molimm.2007.09.034.
-
(2008)
Mol Immunol
, vol.45
, pp. 1693-1702
-
-
Amano, M.T.1
-
8
-
-
0018463971
-
C2 deficiency and a lupus erythematosus-like illness: family re-evaluation
-
COI: 1:STN:280:DyaE1M7mtl2ksA%3D%3D, PID: 434661
-
Wahl R et al. C2 deficiency and a lupus erythematosus-like illness: family re-evaluation. Ann Intern Med. 1979;90:717–8.
-
(1979)
Ann Intern Med
, vol.90
, pp. 717-718
-
-
Wahl, R.1
-
9
-
-
0023615976
-
Deletion of C4A genes in patients with systemic lupus erythematosus
-
COI: 1:STN:280:DyaL1c%2FisVarsQ%3D%3D, PID: 3499152
-
Kemp ME, Atkinson JP, Skanes VM, Levine RP, Chaplin DD. Deletion of C4A genes in patients with systemic lupus erythematosus. Arthritis Rheum. 1987;30:1015–22.
-
(1987)
Arthritis Rheum
, vol.30
, pp. 1015-1022
-
-
Kemp, M.E.1
Atkinson, J.P.2
Skanes, V.M.3
Levine, R.P.4
Chaplin, D.D.5
-
10
-
-
0029006893
-
Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity
-
COI: 1:CAS:528:DyaK2MXmtVart74%3D, PID: 7539157
-
Rieux-Laucat F et al. Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. Science. 1995;268:1347–9.
-
(1995)
Science
, vol.268
, pp. 1347-1349
-
-
Rieux-Laucat, F.1
-
11
-
-
33747195012
-
A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome
-
COI: 1:CAS:528:DC%2BD28Xot1ymurw%3D, PID: 16627752
-
Del-Rey M et al. A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome. Blood. 2006;108:1306–12. doi:10.1182/blood-2006-04-015776.
-
(2006)
Blood
, vol.108
, pp. 1306-1312
-
-
Del-Rey, M.1
-
12
-
-
0029737324
-
Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease
-
COI: 1:CAS:528:DyaK28XlsFaksbk%3D, PID: 8787672
-
Wu J et al. Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease. J Clin Invest. 1996;98:1107–13. doi:10.1172/JCI118892.
-
(1996)
J Clin Invest
, vol.98
, pp. 1107-1113
-
-
Wu, J.1
-
13
-
-
0034939627
-
Mutation of DNASE1 in people with systemic lupus erythematosus
-
COI: 1:CAS:528:DC%2BD3MXlslSiurs%3D, PID: 11479590
-
Yasutomo K et al. Mutation of DNASE1 in people with systemic lupus erythematosus. Nat Genet. 2001;28:313–4. doi:10.1038/91070.
-
(2001)
Nat Genet
, vol.28
, pp. 313-314
-
-
Yasutomo, K.1
-
14
-
-
82255192363
-
Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus
-
COI: 1:CAS:528:DC%2BC3MXhtlGksL%2FF, PID: 22019780
-
Al-Mayouf SM et al. Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus. Nat Genet. 2011;43:1186–8. doi:10.1038/ng.975.
-
(2011)
Nat Genet
, vol.43
, pp. 1186-1188
-
-
Al-Mayouf, S.M.1
-
15
-
-
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 et al. A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. J Mol Med (Berl). 2007;85:531–7. doi:10.1007/s00109-007-0199-9.
-
(2007)
J Mol Med (Berl)
, vol.85
, pp. 531-537
-
-
Lee-Kirsch, M.A.1
-
16
-
-
84911997231
-
Whole exome sequencing in early-onset cerebral SLE identifies a pathogenic variant in TREX1
-
PID: 25138095
-
Ellyard JI et al. Whole exome sequencing in early-onset cerebral SLE identifies a pathogenic variant in TREX1. Arthritis Rheumatol. 2014. doi:10.1002/art.38824.
-
(2014)
Arthritis Rheumatol
-
-
Ellyard, J.I.1
-
17
-
-
84905825645
-
Activated STING in a vascular and pulmonary syndrome
-
PID: 25029335
-
Liu Y et al. Activated STING in a vascular and pulmonary syndrome. N Engl J Med. 2014;371:507–18. doi:10.1056/NEJMoa1312625.
-
(2014)
N Engl J Med
, vol.371
, pp. 507-518
-
-
Liu, Y.1
-
18
-
-
84984621777
-
Familial chilblain lupus due to a gain-of-function mutation in STING
-
Konig N et al. Familial chilblain lupus due to a gain-of-function mutation in STING. Ann Rheum Dis. 2016. doi:10.1136/annrheumdis-2016-209841.
-
(2016)
Ann Rheum Dis
-
-
Konig, N.1
-
19
-
-
67649861901
-
Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response
-
COI: 1:CAS:528:DC%2BD1MXnt1Shtr0%3D, PID: 19525956
-
Rice GI et al. Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet. 2009;41:829–32. doi:10.1038/ng.373.
-
(2009)
Nat Genet
, vol.41
, pp. 829-832
-
-
Rice, G.I.1
-
20
-
-
80455129268
-
Aicardi-Goutieres syndrome and systemic lupus erythematosus (SLE) in a 12-year-old boy with SAMHD1 mutations
-
PID: 21670392
-
Ramantani G et al. Aicardi-Goutieres syndrome and systemic lupus erythematosus (SLE) in a 12-year-old boy with SAMHD1 mutations. J Child Neurol. 2011;26:1425–8. doi:10.1177/0883073811408310.
-
(2011)
J Child Neurol
, vol.26
, pp. 1425-1428
-
-
Ramantani, G.1
-
21
-
-
84868207785
-
Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature
-
COI: 1:CAS:528:DC%2BC38Xhtlymur3E, PID: 23001123
-
Rice GI et al. Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature. Nat Genet. 2012;44:1243–8. doi:10.1038/ng.2414.
-
(2012)
Nat Genet
, vol.44
, pp. 1243-1248
-
-
Rice, G.I.1
-
22
-
-
84899495767
-
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
-
COI: 1:CAS:528:DC%2BC2cXltFKqsrY%3D, PID: 24686847
-
Rice GI et al. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nat Genet. 2014;46:503–9. doi:10.1038/ng.2933.
-
(2014)
Nat Genet
, vol.46
, pp. 503-509
-
-
Rice, G.I.1
-
23
-
-
33746522835
-
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection
-
COI: 1:CAS:528:DC%2BD28XnsVCgsrw%3D, PID: 16845400
-
Crow YJ et al. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection. Nat Genet. 2006;38:910–6. doi:10.1038/ng1842.
-
(2006)
Nat Genet
, vol.38
, pp. 910-916
-
-
Crow, Y.J.1
-
24
-
-
84994283863
-
-
Massaad MJ, et al. The base excision repair enzyme NEIL3 protects against autoimmunity. J Clin Invest. 2016; in press
-
Massaad MJ, et al. The base excision repair enzyme NEIL3 protects against autoimmunity. J Clin Invest. 2016; in press.
-
-
-
-
25
-
-
79251551861
-
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature
-
COI: 1:CAS:528:DC%2BC3MXjtVOjsg%3D%3D, PID: 21217755
-
Briggs TA et al. Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nat Genet. 2011;43:127–31. doi:10.1038/ng.748.
-
(2011)
Nat Genet
, vol.43
, pp. 127-131
-
-
Briggs, T.A.1
-
26
-
-
84881339076
-
Protein kinase cdelta deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation
-
COI: 1:CAS:528:DC%2BC3sXhtF2isr%2FL, PID: 23666743
-
Belot A et al. Protein kinase cdelta deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation. Arthritis Rheum. 2013;65:2161–71. doi:10.1002/art.38008.
-
(2013)
Arthritis Rheum
, vol.65
, pp. 2161-2171
-
-
Belot, A.1
-
27
-
-
84920461307
-
Impaired receptor editing and heterozygous RAG2 mutation in a patient with systemic lupus erythematosus and erosive arthritis
-
Walter JE et al. Impaired receptor editing and heterozygous RAG2 mutation in a patient with systemic lupus erythematosus and erosive arthritis. J Allergy Clin Immunol. 2014. doi:10.1016/j.jaci.2014.07.063.
-
(2014)
J Allergy Clin Immunol
-
-
Walter, J.E.1
-
28
-
-
84886085781
-
Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature
-
PID: 23786871
-
Bader-Meunier B et al. Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature. Semin Arthritis Rheum. 2013;43:217–9. doi:10.1016/j.semarthrit.2013.04.009.
-
(2013)
Semin Arthritis Rheum
, vol.43
, pp. 217-219
-
-
Bader-Meunier, B.1
-
29
-
-
79952061417
-
Noonan syndrome and systemic lupus erythematosus in a patient with a novel KRAS mutation
-
COI: 1:STN:280:DC%2BC3cjovVKhsw%3D%3D, PID: 20810036
-
Leventopoulos G, Denayer E, Makrythanasis P, Papapolychroniou C, Fryssira H. Noonan syndrome and systemic lupus erythematosus in a patient with a novel KRAS mutation. Clin Exp Rheumatol. 2010;28:556–7.
-
(2010)
Clin Exp Rheumatol
, vol.28
, pp. 556-557
-
-
Leventopoulos, G.1
Denayer, E.2
Makrythanasis, P.3
Papapolychroniou, C.4
Fryssira, H.5
-
30
-
-
84862543014
-
Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review
-
PID: 22726576
-
Butbul Aviel Y et al. Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review. Pediatr Rheumatol Online J. 2012;10:18. doi:10.1186/1546-0096-10-18.
-
(2012)
Pediatr Rheumatol Online J
, vol.10
, pp. 18
-
-
Butbul Aviel, Y.1
-
31
-
-
84901530497
-
Complement deficiencies in systemic lupus erythematosus
-
PID: 24816552
-
Bryan AR, Wu EY. Complement deficiencies in systemic lupus erythematosus. Curr Allergy Asthma Rep. 2014;14:448. doi:10.1007/s11882-014-0448-2.
-
(2014)
Curr Allergy Asthma Rep
, vol.14
, pp. 448
-
-
Bryan, A.R.1
Wu, E.Y.2
-
32
-
-
84871302106
-
Association of Fas gene polymorphisms with systemic lupus erythematosus: a meta-analysis
-
COI: 1:CAS:528:DC%2BC38XhvVWhurvJ, PID: 23065220
-
Xiang N, Li XM, Wang GS, Tao JH, Li XP. Association of Fas gene polymorphisms with systemic lupus erythematosus: a meta-analysis. Mol Biol Rep. 2013;40:407–15. doi:10.1007/s11033-012-2075-0.
-
(2013)
Mol Biol Rep
, vol.40
, pp. 407-415
-
-
Xiang, N.1
Li, X.M.2
Wang, G.S.3
Tao, J.H.4
Li, X.P.5
-
33
-
-
79953291788
-
The MRL/lpr mouse strain as a model for neuropsychiatric systemic lupus erythematosus
-
PID: 21331367
-
Gulinello M, Putterman C. The MRL/lpr mouse strain as a model for neuropsychiatric systemic lupus erythematosus. J Biomed Biotechnol. 2011;2011:207504. doi:10.1155/2011/207504.
-
(2011)
J Biomed Biotechnol
, vol.2011
, pp. 207504
-
-
Gulinello, M.1
Putterman, C.2
-
34
-
-
0034114882
-
Features of systemic lupus erythematosus in Dnase1-deficient mice
-
COI: 1:CAS:528:DC%2BD3cXjvFOgt7c%3D, PID: 10835632
-
Napirei M et al. Features of systemic lupus erythematosus in Dnase1-deficient mice. Nat Genet. 2000;25:177–81. doi:10.1038/76032.
-
(2000)
Nat Genet
, vol.25
, pp. 177-181
-
-
Napirei, M.1
-
35
-
-
0019797317
-
Serum deoxyribonuclease I and clinical activity in systemic lupus erythematosus
-
COI: 1:STN:280:DyaL383ns1Olug%3D%3D, PID: 6287560
-
Chitrabamrung S, Rubin RL, Tan EM. Serum deoxyribonuclease I and clinical activity in systemic lupus erythematosus. Rheumatol Int. 1981;1:55–60.
-
(1981)
Rheumatol Int
, vol.1
, pp. 55-60
-
-
Chitrabamrung, S.1
Rubin, R.L.2
Tan, E.M.3
-
36
-
-
84976583862
-
Digestion of chromatin in apoptotic cell microparticles prevents autoimmunity
-
COI: 1:CAS:528:DC%2BC28XpslWlt74%3D, PID: 27293190
-
Sisirak V et al. Digestion of chromatin in apoptotic cell microparticles prevents autoimmunity. Cell. 2016;166:88–101. doi:10.1016/j.cell.2016.05.034.
-
(2016)
Cell
, vol.166
, pp. 88-101
-
-
Sisirak, V.1
-
37
-
-
33749006867
-
Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p
-
COI: 1:CAS:528:DC%2BD28XhtVChurrF, PID: 16960810
-
Lee-Kirsch MA et al. Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p. Am J Hum Genet. 2006;79:731–7. doi:10.1086/507848.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 731-737
-
-
Lee-Kirsch, M.A.1
-
38
-
-
51549098974
-
Chilblain lupus erythematosus-a review of literature
-
PID: 19125230
-
Hedrich CM et al. Chilblain lupus erythematosus-a review of literature. Clin Rheumatol. 2008;27:1341. doi:10.1007/s10067-008-0975-0.
-
(2008)
Clin Rheumatol
, vol.27
, pp. 1341
-
-
Hedrich, C.M.1
-
39
-
-
0028972864
-
The Aicardi-Goutieres syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis)
-
COI: 1:STN:280:DyaK287lsVyltQ%3D%3D, PID: 8592332
-
Tolmie JL, Shillito P, Hughes-Benzie R, Stephenson JB. The Aicardi-Goutieres syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis). J Med Genet. 1995;32:881–4.
-
(1995)
J Med Genet
, vol.32
, pp. 881-884
-
-
Tolmie, J.L.1
Shillito, P.2
Hughes-Benzie, R.3
Stephenson, J.B.4
-
40
-
-
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, PID: 16845398
-
Crow YJ et al. Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus. Nat Genet. 2006;38:917–20. doi:10.1038/ng1845.
-
(2006)
Nat Genet
, vol.38
, pp. 917-920
-
-
Crow, Y.J.1
-
41
-
-
34147185679
-
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome
-
COI: 1:CAS:528:DC%2BD2sXktVOis7Y%3D, PID: 17357087
-
Rice G et al. Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. Am J Hum Genet. 2007;80:811–5. doi:10.1086/513443.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 811-815
-
-
Rice, G.1
-
42
-
-
84900856439
-
Deregulated type I IFN response in TREX1-associated familial chilblain lupus
-
COI: 1:CAS:528:DC%2BC3sXhvFGrsL7P, PID: 24270665
-
Peschke K et al. Deregulated type I IFN response in TREX1-associated familial chilblain lupus. J Invest Dermatol. 2014;134:1456–9. doi:10.1038/jid.2013.496.
-
(2014)
J Invest Dermatol
, vol.134
, pp. 1456-1459
-
-
Peschke, K.1
-
43
-
-
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, PID: 17660818
-
Lee-Kirsch MA et al. Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet. 2007;39:1065–7. doi:10.1038/ng2091.
-
(2007)
Nat Genet
, vol.39
, pp. 1065-1067
-
-
Lee-Kirsch, M.A.1
-
44
-
-
79958015275
-
Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort
-
COI: 1:CAS:528:DC%2BC3MXmvFyksrY%3D, PID: 21270825
-
Namjou B et al. Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort. Genes Immun. 2011;12:270–9. doi:10.1038/gene.2010.73.
-
(2011)
Genes Immun
, vol.12
, pp. 270-279
-
-
Namjou, B.1
-
45
-
-
33745501366
-
The exonuclease TREX1 is in the SET complex and acts in concert with NM23-H1 to degrade DNA during granzyme A-mediated cell death
-
COI: 1:CAS:528:DC%2BD28XnsVyjs7s%3D, PID: 16818237
-
Chowdhury D et al. The exonuclease TREX1 is in the SET complex and acts in concert with NM23-H1 to degrade DNA during granzyme A-mediated cell death. Mol Cell. 2006;23:133–42. doi:10.1016/j.molcel.2006.06.005.
-
(2006)
Mol Cell
, vol.23
, pp. 133-142
-
-
Chowdhury, D.1
-
46
-
-
36248988008
-
Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease
-
COI: 1:CAS:528:DC%2BD2sXhsVCntbbL, PID: 18045533
-
Yang YG, Lindahl T, Barnes DE. Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease. Cell. 2007;131:873–86. doi:10.1016/j.cell.2007.10.017.
-
(2007)
Cell
, vol.131
, pp. 873-886
-
-
Yang, Y.G.1
Lindahl, T.2
Barnes, D.E.3
-
47
-
-
49549100511
-
Trex1 prevents cell-intrinsic initiation of autoimmunity
-
COI: 1:CAS:528:DC%2BD1cXhtVGqtrnK, PID: 18724932
-
Stetson DB, Ko JS, Heidmann T, Medzhitov R. Trex1 prevents cell-intrinsic initiation of autoimmunity. Cell. 2008;134:587–98. doi:10.1016/j.cell.2008.06.032.
-
(2008)
Cell
, vol.134
, pp. 587-598
-
-
Stetson, D.B.1
Ko, J.S.2
Heidmann, T.3
Medzhitov, R.4
-
48
-
-
84988958814
-
Loss of Trex1 in Dendritic Cells Is Sufficient To Trigger Systemic Autoimmunity
-
COI: 1:CAS:528:DC%2BC28XhsVCqtr7O, PID: 27511730
-
Peschke K et al. Loss of Trex1 in Dendritic Cells Is Sufficient To Trigger Systemic Autoimmunity. J Immunol. 2016;197:2157–66. doi:10.4049/jimmunol.1600722.
-
(2016)
J Immunol
, vol.197
, pp. 2157-2166
-
-
Peschke, K.1
-
49
-
-
84856301080
-
Autoimmunity initiates in nonhematopoietic cells and progresses via lymphocytes in an interferon-dependent autoimmune disease
-
COI: 1:CAS:528:DC%2BC38XhsFKjurY%3D, PID: 22284419
-
Gall A et al. Autoimmunity initiates in nonhematopoietic cells and progresses via lymphocytes in an interferon-dependent autoimmune disease. Immunity. 2012;36:120–31. doi:10.1016/j.immuni.2011.11.018.
-
(2012)
Immunity
, vol.36
, pp. 120-131
-
-
Gall, A.1
-
50
-
-
84921417123
-
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
-
PID: 25604658
-
Crow YJ 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;167A:296–312. doi:10.1002/ajmg.a.36887.
-
(2015)
Am J Med Genet A
, vol.167A
, pp. 296-312
-
-
Crow, Y.J.1
-
51
-
-
84922470690
-
Reduction of hRNase H2 activity in Aicardi-Goutieres syndrome cells leads to replication stress and genome instability
-
COI: 1:CAS:528:DC%2BC2MXhsVyltbfK, PID: 25274781
-
Pizzi S et al. Reduction of hRNase H2 activity in Aicardi-Goutieres syndrome cells leads to replication stress and genome instability. Hum Mol Genet. 2015;24:649–58. doi:10.1093/hmg/ddu485.
-
(2015)
Hum Mol Genet
, vol.24
, pp. 649-658
-
-
Pizzi, S.1
-
52
-
-
84978162008
-
Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutieres Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations
-
COI: 1:CAS:528:DC%2BC28XhtFaitLrN, PID: 26802932
-
Kono M et al. Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutieres Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations. J Invest Dermatol. 2016;136:875–8. doi:10.1016/j.jid.2015.12.034.
-
(2016)
J Invest Dermatol
, vol.136
, pp. 875-878
-
-
Kono, M.1
-
53
-
-
84924164221
-
A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome
-
COI: 1:CAS:528:DC%2BC2MXhsVakurg%3D, PID: 25620204
-
Rutsch F et al. A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. Am J Hum Genet. 2015;96:275–82. doi:10.1016/j.ajhg.2014.12.014.
-
(2015)
Am J Hum Genet
, vol.96
, pp. 275-282
-
-
Rutsch, F.1
-
54
-
-
84960397357
-
SAMHD1: at the crossroads of cell proliferation, immune responses, and virus restriction
-
COI: 1:CAS:528:DC%2BC2MXhs1SltbjJ, PID: 26439297
-
Ballana E, Este JA. SAMHD1: at the crossroads of cell proliferation, immune responses, and virus restriction. Trends Microbiol. 2015;23:680–92. doi:10.1016/j.tim.2015.08.002.
-
(2015)
Trends Microbiol
, vol.23
, pp. 680-692
-
-
Ballana, E.1
Este, J.A.2
-
55
-
-
85006172833
-
Tartrate-Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus Erythematosus
-
PID: 27390188
-
An J et al. Tartrate-Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus Erythematosus. Arthritis Rheumatol. 2016. doi:10.1002/art.39810.
-
(2016)
Arthritis Rheumatol
-
-
An, J.1
-
56
-
-
0037171439
-
Protein kinase Cdelta controls self-antigen-induced B-cell tolerance
-
PID: 11976686
-
Mecklenbrauker I, Saijo K, Zheng NY, Leitges M, Tarakhovsky A. Protein kinase Cdelta controls self-antigen-induced B-cell tolerance. Nature. 2002;416:860–5. doi:10.1038/416860a.
-
(2002)
Nature
, vol.416
, pp. 860-865
-
-
Mecklenbrauker, I.1
Saijo, K.2
Zheng, N.Y.3
Leitges, M.4
Tarakhovsky, A.5
-
57
-
-
84946781804
-
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency
-
PID: 26457731
-
Walter JE et al. Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. J Clin Invest. 2015;125:4135–48. doi:10.1172/JCI80477.
-
(2015)
J Clin Invest
, vol.125
, pp. 4135-4148
-
-
Walter, J.E.1
-
58
-
-
84961279265
-
Human RAG mutations: biochemistry and clinical implications
-
COI: 1:CAS:528:DC%2BC28XksVOitLs%3D, PID: 26996199
-
Notarangelo LD, Kim MS, Walter JE, Lee YN. Human RAG mutations: biochemistry and clinical implications. Nat Rev Immunol. 2016;16:234–46. doi:10.1038/nri.2016.28.
-
(2016)
Nat Rev Immunol
, vol.16
, pp. 234-246
-
-
Notarangelo, L.D.1
Kim, M.S.2
Walter, J.E.3
Lee, Y.N.4
-
59
-
-
60449089137
-
Noonan syndrome associated with systemic lupus erythematosus
-
COI: 1:STN:280:DC%2BD1M7jvVKqtQ%3D%3D, PID: 19213867
-
Lisbona MP, Moreno M, Orellana C, Gratacos J, Larrosa M. Noonan syndrome associated with systemic lupus erythematosus. Lupus. 2009;18:267–9. doi:10.1177/0961203308094996.
-
(2009)
Lupus
, vol.18
, pp. 267-269
-
-
Lisbona, M.P.1
Moreno, M.2
Orellana, C.3
Gratacos, J.4
Larrosa, M.5
-
60
-
-
0035934022
-
Systemic lupus erythematosus in a man with Noonan syndrome
-
COI: 1:STN:280:DC%2BD3MvhvFajtQ%3D%3D, PID: 11471173
-
Martin DM, Gencyuz CF, Petty EM. Systemic lupus erythematosus in a man with Noonan syndrome. Am J Med Genet. 2001;102:59–62.
-
(2001)
Am J Med Genet
, vol.102
, pp. 59-62
-
-
Martin, D.M.1
Gencyuz, C.F.2
Petty, E.M.3
-
61
-
-
36148952923
-
The role of Ras signaling in lupus T lymphocytes: biology and pathogenesis
-
COI: 1:CAS:528:DC%2BD2sXhtlGhurvM, PID: 17913587
-
Mor A, Philips MR, Pillinger MH. The role of Ras signaling in lupus T lymphocytes: biology and pathogenesis. Clin Immunol. 2007;125:215–23. doi:10.1016/j.clim.2007.08.008.
-
(2007)
Clin Immunol
, vol.125
, pp. 215-223
-
-
Mor, A.1
Philips, M.R.2
Pillinger, M.H.3
-
62
-
-
0035096761
-
Decreased Ras-mitogen-activated protein kinase signaling may cause DNA hypomethylation in T lymphocytes from lupus patients
-
COI: 1:CAS:528:DC%2BD3MXitlCgurw%3D, PID: 11229472
-
Deng C et al. Decreased Ras-mitogen-activated protein kinase signaling may cause DNA hypomethylation in T lymphocytes from lupus patients. Arthritis Rheum. 2001;44:397–407. doi:10.1002/1529-0131(200102)44:2<397::AID-ANR59>3.0.CO;2-N.
-
(2001)
Arthritis Rheum
, vol.44
, pp. 397-407
-
-
Deng, C.1
-
63
-
-
84930379392
-
Epigenome profiling reveals significant DNA demethylation of interferon signature genes in lupus neutrophils
-
COI: 1:CAS:528:DC%2BC2MXhtF2ktLk%3D, PID: 25638528
-
Coit P et al. Epigenome profiling reveals significant DNA demethylation of interferon signature genes in lupus neutrophils. J Autoimmun. 2015;58:59–66. doi:10.1016/j.jaut.2015.01.004.
-
(2015)
J Autoimmun
, vol.58
, pp. 59-66
-
-
Coit, P.1
-
64
-
-
77952095497
-
Prolidase deficiency: it looks like systemic lupus erythematosus but it is not
-
PID: 19937054
-
Klar A et al. Prolidase deficiency: it looks like systemic lupus erythematosus but it is not. Eur J Pediatr. 2010;169:727–32. doi:10.1007/s00431-009-1102-1.
-
(2010)
Eur J Pediatr
, vol.169
, pp. 727-732
-
-
Klar, A.1
-
65
-
-
84943153335
-
Flavivirus Antagonism of Type I Interferon Signaling Reveals Prolidase as a Regulator of IFNAR1 Surface Expression
-
COI: 1:CAS:528:DC%2BC2MXhtV2ltLzO, PID: 26159719
-
Lubick KJ et al. Flavivirus Antagonism of Type I Interferon Signaling Reveals Prolidase as a Regulator of IFNAR1 Surface Expression. Cell Host Microbe. 2015;18:61–74. doi:10.1016/j.chom.2015.06.007.
-
(2015)
Cell Host Microbe
, vol.18
, pp. 61-74
-
-
Lubick, K.J.1
-
66
-
-
0034934327
-
Lysinuric protein intolerance in siblings: complication of systemic lupus erythematosus in the elder sister
-
COI: 1:STN:280:DC%2BD3Mvps1yitA%3D%3D, PID: 11548196
-
Aoki M et al. Lysinuric protein intolerance in siblings: complication of systemic lupus erythematosus in the elder sister. Eur J Pediatr. 2001;160:522–3.
-
(2001)
Eur J Pediatr
, vol.160
, pp. 522-523
-
-
Aoki, M.1
-
67
-
-
57149129432
-
Chronic granulomatous disease as a risk factor for autoimmune disease
-
PID: 18823651
-
De Ravin SS et al. Chronic granulomatous disease as a risk factor for autoimmune disease. J Allergy Clin Immunol. 2008;122:1097–103. doi:10.1016/j.jaci.2008.07.050.
-
(2008)
J Allergy Clin Immunol
, vol.122
, pp. 1097-1103
-
-
De Ravin, S.S.1
-
68
-
-
84961116697
-
Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency
-
COI: 1:CAS:528:DC%2BC28Xjslyju7w%3D, PID: 26922074
-
Schepp J et al. Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency. J Clin Immunol. 2016;36:179–86. doi:10.1007/s10875-016-0245-x.
-
(2016)
J Clin Immunol
, vol.36
, pp. 179-186
-
-
Schepp, J.1
-
69
-
-
70349956433
-
Finding the missing heritability of complex diseases
-
COI: 1:CAS:528:DC%2BD1MXht1CisbrF, PID: 19812666
-
Manolio TA et al. Finding the missing heritability of complex diseases. Nature. 2009;461:747–53. doi:10.1038/nature08494.
-
(2009)
Nature
, vol.461
, pp. 747-753
-
-
Manolio, T.A.1
|