-
1
-
-
50949104018
-
Immunological tolerance and the autoimmune response
-
Davies A.J. Immunological tolerance and the autoimmune response. Autoimmun Rev 7 (2008) 538-543
-
(2008)
Autoimmun Rev
, vol.7
, pp. 538-543
-
-
Davies, A.J.1
-
2
-
-
51749110645
-
Is autoimmunity a matter of sex?
-
Lleo A., Battezzati P.M., Selmi C., Gershwin M.E., and Podda M. Is autoimmunity a matter of sex?. Autoimmun Rev 7 (2008) 626-630
-
(2008)
Autoimmun Rev
, vol.7
, pp. 626-630
-
-
Lleo, A.1
Battezzati, P.M.2
Selmi, C.3
Gershwin, M.E.4
Podda, M.5
-
3
-
-
39549105166
-
Environmental and occupational stress and autoimmunity
-
Boscolo P., Youinou P., Theoharides T.C., Cerulli G., and Conti P. Environmental and occupational stress and autoimmunity. Autoimmun Rev 7 (2008) 340-343
-
(2008)
Autoimmun Rev
, vol.7
, pp. 340-343
-
-
Boscolo, P.1
Youinou, P.2
Theoharides, T.C.3
Cerulli, G.4
Conti, P.5
-
4
-
-
56349133939
-
Systems genetics can provide new insights in to immune regulation and autoimmunity
-
Morahan G., Peeva V., Mehta M., and Williams R. Systems genetics can provide new insights in to immune regulation and autoimmunity. J Autoimmun 31 (2008) 233-236
-
(2008)
J Autoimmun
, vol.31
, pp. 233-236
-
-
Morahan, G.1
Peeva, V.2
Mehta, M.3
Williams, R.4
-
5
-
-
38049068750
-
The HLA gene complex in thyroid autoimmunity: from epidemiology to etiology
-
Jacobson E.M., Huber A., and Tomer Y. The HLA gene complex in thyroid autoimmunity: from epidemiology to etiology. J Autoimmun 30 (2008) 58-62
-
(2008)
J Autoimmun
, vol.30
, pp. 58-62
-
-
Jacobson, E.M.1
Huber, A.2
Tomer, Y.3
-
6
-
-
0033302539
-
The human leucocyte antigens and clinical medicine: an overview
-
McCluskey J., and Peh C.A. The human leucocyte antigens and clinical medicine: an overview. Rev Immunogenet 1 (1999) 3-20
-
(1999)
Rev Immunogenet
, vol.1
, pp. 3-20
-
-
McCluskey, J.1
Peh, C.A.2
-
8
-
-
43649106996
-
Extreme genetic risk for type 1A diabetes in the post-genome era
-
Baschal E.E., and Eisenbarth G.S. Extreme genetic risk for type 1A diabetes in the post-genome era. J Autoimmun 31 (2008) 1-6
-
(2008)
J Autoimmun
, vol.31
, pp. 1-6
-
-
Baschal, E.E.1
Eisenbarth, G.S.2
-
9
-
-
34247575117
-
The CD40, CTLA-4, thyroglobulin, TSH receptor, and PTPN22 gene quintet and its contribution to thyroid autoimmunity: back to the future
-
Jacobson E.M., and Tomer Y. The CD40, CTLA-4, thyroglobulin, TSH receptor, and PTPN22 gene quintet and its contribution to thyroid autoimmunity: back to the future. J Autoimmun 28 (2007) 85-98
-
(2007)
J Autoimmun
, vol.28
, pp. 85-98
-
-
Jacobson, E.M.1
Tomer, Y.2
-
11
-
-
67349085696
-
Female predominance and X chromosome defects in autoimmune diseases
-
Invernizzi P., Pasini S., Selmi C., Gershwin M.E., and Podda M. Female predominance and X chromosome defects in autoimmune diseases. J Autoimmun 33 (2009) 12-16
-
(2009)
J Autoimmun
, vol.33
, pp. 12-16
-
-
Invernizzi, P.1
Pasini, S.2
Selmi, C.3
Gershwin, M.E.4
Podda, M.5
-
12
-
-
20444505232
-
An array of possibilities for the study of autoimmunity
-
Fathman C.G., Soares L., Chan S.M., and Utz P.J. An array of possibilities for the study of autoimmunity. Nature 435 (2005) 605-611
-
(2005)
Nature
, vol.435
, pp. 605-611
-
-
Fathman, C.G.1
Soares, L.2
Chan, S.M.3
Utz, P.J.4
-
13
-
-
65949104586
-
Genomewide association studies and human disease
-
Hardy J., and Singleton A. Genomewide association studies and human disease. N Engl J Med 360 (2009) 1759-1768
-
(2009)
N Engl J Med
, vol.360
, pp. 1759-1768
-
-
Hardy, J.1
Singleton, A.2
-
14
-
-
58149333555
-
Autoimmune diseases: insights from genome-wide association studies
-
Lettre G., and Rioux J.D. Autoimmune diseases: insights from genome-wide association studies. Hum Molecular Genetics 17 (2008) R116-R121
-
(2008)
Hum Molecular Genetics
, vol.17
-
-
Lettre, G.1
Rioux, J.D.2
-
15
-
-
61849115785
-
Copy number variation in the human genome and its implication in autoimmunity
-
Schaschl H., Aitman T.J., and Vyse T.J. Copy number variation in the human genome and its implication in autoimmunity. Clin Exp Immunol 156 (2009) 12-16
-
(2009)
Clin Exp Immunol
, vol.156
, pp. 12-16
-
-
Schaschl, H.1
Aitman, T.J.2
Vyse, T.J.3
-
16
-
-
43249119095
-
Defining the role of the MHC in autoimmunity: a review and pooled analysis
-
e1000024
-
Fernando M.M., Stevens C.R., Walsh E.C., De Jager P.L., Goyette P., Plenge R.M., et al. Defining the role of the MHC in autoimmunity: a review and pooled analysis. PLoS Genetics 4 (2008) e1000024
-
(2008)
PLoS Genetics
, vol.4
-
-
Fernando, M.M.1
Stevens, C.R.2
Walsh, E.C.3
De Jager, P.L.4
Goyette, P.5
Plenge, R.M.6
-
17
-
-
0037342213
-
Candidate gene case-control studies
-
Daly A.K. Candidate gene case-control studies. Pharmacogenomics 4 (2003) 127-139
-
(2003)
Pharmacogenomics
, vol.4
, pp. 127-139
-
-
Daly, A.K.1
-
19
-
-
34548427925
-
STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus
-
Remmers E.F., Plenge R.M., Lee A.T., Graham R.R., Hom G., Behrens T.W., et al. STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med 357 (2007) 977-986
-
(2007)
N Engl J Med
, vol.357
, pp. 977-986
-
-
Remmers, E.F.1
Plenge, R.M.2
Lee, A.T.3
Graham, R.R.4
Hom, G.5
Behrens, T.W.6
-
20
-
-
0035978651
-
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease
-
Hugot J.P., Chamaillard M., Zouali H., Lesage S., Cezard J.P., Belaiche J., et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 411 (2001) 599-603
-
(2001)
Nature
, vol.411
, pp. 599-603
-
-
Hugot, J.P.1
Chamaillard, M.2
Zouali, H.3
Lesage, S.4
Cezard, J.P.5
Belaiche, J.6
-
21
-
-
0035978533
-
A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease
-
Ogura Y., Bonen D.K., Inohara N., Nicolae D.L., Chen F.F., Ramos R., et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 411 (2001) 603-606
-
(2001)
Nature
, vol.411
, pp. 603-606
-
-
Ogura, Y.1
Bonen, D.K.2
Inohara, N.3
Nicolae, D.L.4
Chen, F.F.5
Ramos, R.6
-
22
-
-
42349112088
-
Genome-wide association studies for complex traits: consensus, uncertainty and challenges
-
McCarthy M.I., Abecasis G.R., Cardon L.R., Goldstein D.B., Little J., Ioannidis J.P., et al. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 9 (2008) 356-369
-
(2008)
Nat Rev Genet
, vol.9
, pp. 356-369
-
-
McCarthy, M.I.1
Abecasis, G.R.2
Cardon, L.R.3
Goldstein, D.B.4
Little, J.5
Ioannidis, J.P.6
-
23
-
-
0035895505
-
The sequence of the human genome
-
Venter J.C., Adams M.D., Myers E.W., Li P.W., Mural R.J., Sutton G.G., et al. The sequence of the human genome. Science 291 (2001) 1304-1351
-
(2001)
Science
, vol.291
, pp. 1304-1351
-
-
Venter, J.C.1
Adams, M.D.2
Myers, E.W.3
Li, P.W.4
Mural, R.J.5
Sutton, G.G.6
-
24
-
-
0344091561
-
Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans
-
Carlson C.S., Eberle M.A., Rieder M.J., Smith J.D., Kruglyak L., and Nickerson D.A. Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans. Nat Genet 33 (2003) 518-521
-
(2003)
Nat Genet
, vol.33
, pp. 518-521
-
-
Carlson, C.S.1
Eberle, M.A.2
Rieder, M.J.3
Smith, J.D.4
Kruglyak, L.5
Nickerson, D.A.6
-
25
-
-
0036100450
-
The prevalence of rheumatoid arthritis in the general population of Spain
-
Carmona L., Villaverde V., Hernandez-Garcia C., Ballina J., Gabriel R., and Laffon A. The prevalence of rheumatoid arthritis in the general population of Spain. Rheumatol (Oxford) 41 (2002) 88-95
-
(2002)
Rheumatol (Oxford)
, vol.41
, pp. 88-95
-
-
Carmona, L.1
Villaverde, V.2
Hernandez-Garcia, C.3
Ballina, J.4
Gabriel, R.5
Laffon, A.6
-
26
-
-
18444396271
-
A first-generation linkage disequilibrium map of human chromosome 22
-
Dawson E., Abecasis G.R., Bumpstead S., Chen Y., Hunt S., Beare D.M., et al. A first-generation linkage disequilibrium map of human chromosome 22. Nature 418 (2002) 544-548
-
(2002)
Nature
, vol.418
, pp. 544-548
-
-
Dawson, E.1
Abecasis, G.R.2
Bumpstead, S.3
Chen, Y.4
Hunt, S.5
Beare, D.M.6
-
27
-
-
0035941029
-
Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21
-
Patil N., Berno A.J., Hinds D.A., Barrett W.A., Doshi J.M., Hacker C.R., et al. Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21. Science 294 (2001) 1719-1723
-
(2001)
Science
, vol.294
, pp. 1719-1723
-
-
Patil, N.1
Berno, A.J.2
Hinds, D.A.3
Barrett, W.A.4
Doshi, J.M.5
Hacker, C.R.6
-
28
-
-
0035163547
-
Extent and distribution of linkage disequilibrium in three genomic regions
-
Abecasis G.R., Noguchi E., Heinzmann A., Traherne J.A., Bhattacharyya S., Leaves N.I., et al. Extent and distribution of linkage disequilibrium in three genomic regions. Am J Hum Genet 68 (2001) 191-197
-
(2001)
Am J Hum Genet
, vol.68
, pp. 191-197
-
-
Abecasis, G.R.1
Noguchi, E.2
Heinzmann, A.3
Traherne, J.A.4
Bhattacharyya, S.5
Leaves, N.I.6
-
29
-
-
79959503826
-
The International HapMap project
-
The International HapMap project. Nature 426 (2003) 789-796
-
(2003)
Nature
, vol.426
, pp. 789-796
-
-
-
30
-
-
84969213492
-
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
-
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447 (2007) 661-678
-
(2007)
Nature
, vol.447
, pp. 661-678
-
-
-
31
-
-
33845340501
-
A genome-wide association study identifies IL23R as an inflammatory bowel disease gene
-
Duerr R.H., Taylor K.D., Brant S.R., Rioux J.D., Silverberg M.S., Daly M.J., et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science 314 (2006) 1461-1463
-
(2006)
Science
, vol.314
, pp. 1461-1463
-
-
Duerr, R.H.1
Taylor, K.D.2
Brant, S.R.3
Rioux, J.D.4
Silverberg, M.S.5
Daly, M.J.6
-
32
-
-
33846627302
-
A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1
-
Hampe J., Franke A., Rosenstiel P., Till A., Teuber M., Huse K., et al. A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. Nat Genet 39 (2007) 207-211
-
(2007)
Nat Genet
, vol.39
, pp. 207-211
-
-
Hampe, J.1
Franke, A.2
Rosenstiel, P.3
Till, A.4
Teuber, M.5
Huse, K.6
-
33
-
-
34247579326
-
Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4
-
e58
-
Libioulle C., Louis E., Hansoul S., Sandor C., Farnir F., Franchimont D., et al. Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. PLoS Genetics 3 (2007) e58
-
(2007)
PLoS Genetics
, vol.3
-
-
Libioulle, C.1
Louis, E.2
Hansoul, S.3
Sandor, C.4
Farnir, F.5
Franchimont, D.6
-
34
-
-
34247554965
-
Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis
-
Rioux J.D., Xavier R.J., Taylor K.D., Silverberg M.S., Goyette P., Huett A., et al. Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat Genet 39 (2007) 596-604
-
(2007)
Nat Genet
, vol.39
, pp. 596-604
-
-
Rioux, J.D.1
Xavier, R.J.2
Taylor, K.D.3
Silverberg, M.S.4
Goyette, P.5
Huett, A.6
-
35
-
-
34347338690
-
Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility
-
Parkes M., Barrett J.C., Prescott N.J., Tremelling M., Anderson C.A., Fisher S.A., et al. Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. Nat Genet 39 (2007) 830-832
-
(2007)
Nat Genet
, vol.39
, pp. 830-832
-
-
Parkes, M.1
Barrett, J.C.2
Prescott, N.J.3
Tremelling, M.4
Anderson, C.A.5
Fisher, S.A.6
-
36
-
-
48349136889
-
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
-
Barrett J.C., Hansoul S., Nicolae D.L., Cho J.H., Duerr R.H., Rioux J.D., et al. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet 40 (2008) 955-962
-
(2008)
Nat Genet
, vol.40
, pp. 955-962
-
-
Barrett, J.C.1
Hansoul, S.2
Nicolae, D.L.3
Cho, J.H.4
Duerr, R.H.5
Rioux, J.D.6
-
37
-
-
35348983887
-
A second generation human haplotype map of over 3.1 million SNPs
-
Frazer K.A., Ballinger D.G., Cox D.R., Hinds D.A., Stuve L.L., Gibbs R.A., et al. A second generation human haplotype map of over 3.1 million SNPs. Nature 449 (2007) 851-861
-
(2007)
Nature
, vol.449
, pp. 851-861
-
-
Frazer, K.A.1
Ballinger, D.G.2
Cox, D.R.3
Hinds, D.A.4
Stuve, L.L.5
Gibbs, R.A.6
-
38
-
-
42249094537
-
The MHC type 1 diabetes susceptibility gene is centromeric to HLA-DQB1
-
Husain Z., Kelly M.A., Eisenbarth G.S., Pugliese A., Awdeh Z.L., Larsen C.E., et al. The MHC type 1 diabetes susceptibility gene is centromeric to HLA-DQB1. J Autoimmun 30 (2008) 266-272
-
(2008)
J Autoimmun
, vol.30
, pp. 266-272
-
-
Husain, Z.1
Kelly, M.A.2
Eisenbarth, G.S.3
Pugliese, A.4
Awdeh, Z.L.5
Larsen, C.E.6
-
39
-
-
42249104337
-
Autoreactive human T-cell receptor initiates insulitis and impaired glucose tolerance in HLA DR4 transgenic mice
-
Gebe J.A., Unrath K.A., Yue B.B., Miyake T., Falk B.A., and Nepom G.T. Autoreactive human T-cell receptor initiates insulitis and impaired glucose tolerance in HLA DR4 transgenic mice. J Autoimmun 30 (2008) 197-206
-
(2008)
J Autoimmun
, vol.30
, pp. 197-206
-
-
Gebe, J.A.1
Unrath, K.A.2
Yue, B.B.3
Miyake, T.4
Falk, B.A.5
Nepom, G.T.6
-
40
-
-
0026774185
-
Genetic factors in the etiology and pathogenesis of autoimmunity
-
Carson D.A. Genetic factors in the etiology and pathogenesis of autoimmunity. FASEB J 6 (1992) 2800-2805
-
(1992)
FASEB J
, vol.6
, pp. 2800-2805
-
-
Carson, D.A.1
-
41
-
-
9444295337
-
Gene map of the extended human MHC
-
Horton R., Wilming L., Rand V., Lovering R.C., Bruford E.A., Khodiyar V.K., et al. Gene map of the extended human MHC. Nat Rev Genet 5 (2004) 889-899
-
(2004)
Nat Rev Genet
, vol.5
, pp. 889-899
-
-
Horton, R.1
Wilming, L.2
Rand, V.3
Lovering, R.C.4
Bruford, E.A.5
Khodiyar, V.K.6
-
42
-
-
51349145721
-
HLA class I alleles tag HLA-DRB1*1501 haplotypes for differential risk in multiple sclerosis susceptibility
-
Chao M.J., Barnardo M.C., Lincoln M.R., Ramagopalan S.V., Herrera B.M., Dyment D.A., et al. HLA class I alleles tag HLA-DRB1*1501 haplotypes for differential risk in multiple sclerosis susceptibility. Proc Natl Acad Sci U S A 105 (2008) 13069-13074
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 13069-13074
-
-
Chao, M.J.1
Barnardo, M.C.2
Lincoln, M.R.3
Ramagopalan, S.V.4
Herrera, B.M.5
Dyment, D.A.6
-
43
-
-
58249097071
-
Different patterns of associations with anti-citrullinated protein antibody-positive and anti-citrullinated protein antibody-negative rheumatoid arthritis in the extended major histocompatibility complex region
-
Ding B., Padyukov L., Lundstrom E., Seielstad M., Plenge R.M., Oksenberg J.R., et al. Different patterns of associations with anti-citrullinated protein antibody-positive and anti-citrullinated protein antibody-negative rheumatoid arthritis in the extended major histocompatibility complex region. Arthritis Rheum 60 (2009) 30-38
-
(2009)
Arthritis Rheum
, vol.60
, pp. 30-38
-
-
Ding, B.1
Padyukov, L.2
Lundstrom, E.3
Seielstad, M.4
Plenge, R.M.5
Oksenberg, J.R.6
-
44
-
-
44649135985
-
Several regions in the major histocompatibility complex confer risk for anti-CCP-antibody positive rheumatoid arthritis, independent of the DRB1 locus
-
Lee H.S., Lee A.T., Criswell L.A., Seldin M.F., Amos C.I., Carulli J.P., et al. Several regions in the major histocompatibility complex confer risk for anti-CCP-antibody positive rheumatoid arthritis, independent of the DRB1 locus. Mol Med 14 (2008) 293-300
-
(2008)
Mol Med
, vol.14
, pp. 293-300
-
-
Lee, H.S.1
Lee, A.T.2
Criswell, L.A.3
Seldin, M.F.4
Amos, C.I.5
Carulli, J.P.6
-
45
-
-
67149095289
-
Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants
-
Hirschfield G.M., Liu X., Xu C., Lu Y., Xie G., Lu Y., et al. Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. N Engl J Med 360 (2009) 2544-2555
-
(2009)
N Engl J Med
, vol.360
, pp. 2544-2555
-
-
Hirschfield, G.M.1
Liu, X.2
Xu, C.3
Lu, Y.4
Xie, G.5
Lu, Y.6
-
46
-
-
36849012027
-
Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A
-
Nejentsev S., Howson J.M., Walker N.M., Szeszko J., Field S.F., Stevens H.E., et al. Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A. Nature 450 (2007) 887-892
-
(2007)
Nature
, vol.450
, pp. 887-892
-
-
Nejentsev, S.1
Howson, J.M.2
Walker, N.M.3
Szeszko, J.4
Field, S.F.5
Stevens, H.E.6
-
47
-
-
37649006061
-
Genetic complexity of autoimmune myocarditis
-
Li H.S., Ligons D.L., and Rose N.R. Genetic complexity of autoimmune myocarditis. Autoimmun Rev 7 (2008) 168-173
-
(2008)
Autoimmun Rev
, vol.7
, pp. 168-173
-
-
Li, H.S.1
Ligons, D.L.2
Rose, N.R.3
-
48
-
-
12144291502
-
A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes
-
Bottini N., Musumeci L., Alonso A., Rahmouni S., Nika K., Rostamkhani M., et al. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 36 (2004) 337-338
-
(2004)
Nat Genet
, vol.36
, pp. 337-338
-
-
Bottini, N.1
Musumeci, L.2
Alonso, A.3
Rahmouni, S.4
Nika, K.5
Rostamkhani, M.6
-
49
-
-
3242713277
-
A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis
-
Begovich A.B., Carlton V.E., Honigberg L.A., Schrodi S.J., Chokkalingam A.P., Alexander H.C., et al. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet 75 (2004) 330-337
-
(2004)
Am J Hum Genet
, vol.75
, pp. 330-337
-
-
Begovich, A.B.1
Carlton, V.E.2
Honigberg, L.A.3
Schrodi, S.J.4
Chokkalingam, A.P.5
Alexander, H.C.6
-
50
-
-
4143105691
-
Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE
-
Kyogoku C., Langefeld C.D., Ortmann W.A., Lee A., Selby S., Carlton V.E., et al. Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet 75 (2004) 504-507
-
(2004)
Am J Hum Genet
, vol.75
, pp. 504-507
-
-
Kyogoku, C.1
Langefeld, C.D.2
Ortmann, W.A.3
Lee, A.4
Selby, S.5
Carlton, V.E.6
-
51
-
-
38649108122
-
A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus
-
Nath S.K., Han S., Kim-Howard X., Kelly J.A., Viswanathan P., Gilkeson G.S., et al. A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus. Nat Genet 40 (2008) 152-154
-
(2008)
Nat Genet
, vol.40
, pp. 152-154
-
-
Nath, S.K.1
Han, S.2
Kim-Howard, X.3
Kelly, J.A.4
Viswanathan, P.5
Gilkeson, G.S.6
-
52
-
-
33847331198
-
No preferential transmission of paternal alleles at risk genes in attention-deficit hyperactivity disorder
-
Laurin N., Feng Y., Ickowicz A., Pathare T., Malone M., Tannock R., et al. No preferential transmission of paternal alleles at risk genes in attention-deficit hyperactivity disorder. Mol Psychiatry 12 (2007) 226-229
-
(2007)
Mol Psychiatry
, vol.12
, pp. 226-229
-
-
Laurin, N.1
Feng, Y.2
Ickowicz, A.3
Pathare, T.4
Malone, M.5
Tannock, R.6
-
53
-
-
34247581273
-
Genome-wide association studies herald a new era of rapid discoveries in inflammatory bowel disease research
-
Duerr R.H. Genome-wide association studies herald a new era of rapid discoveries in inflammatory bowel disease research. Gastroenterology 132 (2007) 2045-2049
-
(2007)
Gastroenterology
, vol.132
, pp. 2045-2049
-
-
Duerr, R.H.1
-
54
-
-
33846608131
-
A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes
-
Cargill M., Schrodi S.J., Chang M., Garcia V.E., Brandon R., Callis K.P., et al. A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes. Am J Hum Genet 80 (2007) 273-290
-
(2007)
Am J Hum Genet
, vol.80
, pp. 273-290
-
-
Cargill, M.1
Schrodi, S.J.2
Chang, M.3
Garcia, V.E.4
Brandon, R.5
Callis, K.P.6
-
55
-
-
34548738566
-
Population genomics of human gene expression
-
Stranger B.E., Nica A.C., Forrest M.S., Dimas A., Bird C.P., Beazley C., et al. Population genomics of human gene expression. Nat Genet 39 (2007) 1217-1224
-
(2007)
Nat Genet
, vol.39
, pp. 1217-1224
-
-
Stranger, B.E.1
Nica, A.C.2
Forrest, M.S.3
Dimas, A.4
Bird, C.P.5
Beazley, C.6
-
56
-
-
36549053104
-
A survey of genetic human cortical gene expression
-
Myers A.J., Gibbs J.R., Webster J.A., Rohrer K., Zhao A., Marlowe L., et al. A survey of genetic human cortical gene expression. Nat Genet 39 (2007) 1494-1499
-
(2007)
Nat Genet
, vol.39
, pp. 1494-1499
-
-
Myers, A.J.1
Gibbs, J.R.2
Webster, J.A.3
Rohrer, K.4
Zhao, A.5
Marlowe, L.6
-
57
-
-
41349095280
-
Genetics of gene expression and its effect on disease
-
Emilsson V., Thorleifsson G., Zhang B., Leonardson A.S., Zink F., Zhu J., et al. Genetics of gene expression and its effect on disease. Nature 452 (2008) 423-428
-
(2008)
Nature
, vol.452
, pp. 423-428
-
-
Emilsson, V.1
Thorleifsson, G.2
Zhang, B.3
Leonardson, A.S.4
Zink, F.5
Zhu, J.6
-
58
-
-
42749097422
-
Genetic architecture of transcript-level variation in humans
-
Duan S., Huang R.S., Zhang W., Bleibel W.K., Roe C.A., Clark T.A., et al. Genetic architecture of transcript-level variation in humans. Am J Hum Genet 82 (2008) 1101-1113
-
(2008)
Am J Hum Genet
, vol.82
, pp. 1101-1113
-
-
Duan, S.1
Huang, R.S.2
Zhang, W.3
Bleibel, W.K.4
Roe, C.A.5
Clark, T.A.6
-
59
-
-
38649090044
-
Genome-wide analysis of transcript isoform variation in humans
-
Kwan T., Benovoy D., Dias C., Gurd S., Provencher C., Beaulieu P., et al. Genome-wide analysis of transcript isoform variation in humans. Nat Genet 40 (2008) 225-231
-
(2008)
Nat Genet
, vol.40
, pp. 225-231
-
-
Kwan, T.1
Benovoy, D.2
Dias, C.3
Gurd, S.4
Provencher, C.5
Beaulieu, P.6
-
60
-
-
45149108420
-
Mapping the genetic architecture of gene expression in human Liver
-
e107
-
Schadt E.E., Molony C., Chudin E., Hao K., Yang X., Lum P.Y., et al. Mapping the genetic architecture of gene expression in human Liver. PLoS Biol 6 (2008) e107
-
(2008)
PLoS Biol
, vol.6
-
-
Schadt, E.E.1
Molony, C.2
Chudin, E.3
Hao, K.4
Yang, X.5
Lum, P.Y.6
-
61
-
-
34547631469
-
Heritability of alternative splicing in the human genome
-
Kwan T., Benovoy D., Dias C., Gurd S., Serre D., Zuzan H., et al. Heritability of alternative splicing in the human genome. Genome Res 17 (2007) 1210-1218
-
(2007)
Genome Res
, vol.17
, pp. 1210-1218
-
-
Kwan, T.1
Benovoy, D.2
Dias, C.3
Gurd, S.4
Serre, D.5
Zuzan, H.6
-
62
-
-
20244373351
-
Localization of a type 1 diabetes locus in the IL2RA/CD25 region by use of tag single-nucleotide polymorphisms
-
Vella A., Cooper J.D., Lowe C.E., Walker N., Nutland S., Widmer B., et al. Localization of a type 1 diabetes locus in the IL2RA/CD25 region by use of tag single-nucleotide polymorphisms. Am J Hum Genet 76 (2005) 773-779
-
(2005)
Am J Hum Genet
, vol.76
, pp. 773-779
-
-
Vella, A.1
Cooper, J.D.2
Lowe, C.E.3
Walker, N.4
Nutland, S.5
Widmer, B.6
-
63
-
-
41349103493
-
Newly identified genetic risk variants for celiac disease related to the immune response
-
Hunt K.A., Zhernakova A., Turner G., Heap G.A., Franke L., Bruinenberg M., et al. Newly identified genetic risk variants for celiac disease related to the immune response. Nat Genet 40 (2008) 395-402
-
(2008)
Nat Genet
, vol.40
, pp. 395-402
-
-
Hunt, K.A.1
Zhernakova, A.2
Turner, G.3
Heap, G.A.4
Franke, L.5
Bruinenberg, M.6
-
64
-
-
34347324029
-
A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21
-
van Heel D.A., Franke L., Hunt K.A., Gwilliam R., Zhernakova A., Inouye M., et al. A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. Nat Genet 39 (2007) 827-829
-
(2007)
Nat Genet
, vol.39
, pp. 827-829
-
-
van Heel, D.A.1
Franke, L.2
Hunt, K.A.3
Gwilliam, R.4
Zhernakova, A.5
Inouye, M.6
-
65
-
-
36749054721
-
Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases
-
Zhernakova A., Alizadeh B.Z., Bevova M., van Leeuwen M.A., Coenen M.J., Franke B., et al. Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases. Am J Hum Genet 81 (2007) 1284-1288
-
(2007)
Am J Hum Genet
, vol.81
, pp. 1284-1288
-
-
Zhernakova, A.1
Alizadeh, B.Z.2
Bevova, M.3
van Leeuwen, M.A.4
Coenen, M.J.5
Franke, B.6
-
66
-
-
34548299105
-
Risk alleles for multiple sclerosis identified by a genomewide study
-
Hafler D.A., Compston A., Sawcer S., Lander E.S., Daly M.J., De Jager P.L., et al. Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med 357 (2007) 851-862
-
(2007)
N Engl J Med
, vol.357
, pp. 851-862
-
-
Hafler, D.A.1
Compston, A.2
Sawcer, S.3
Lander, E.S.4
Daly, M.J.5
De Jager, P.L.6
-
67
-
-
34548351247
-
Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis
-
Gregory S.G., Schmidt S., Seth P., Oksenberg J.R., Hart J., Prokop A., et al. Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis. Nat Genet 39 (2007) 1083-1091
-
(2007)
Nat Genet
, vol.39
, pp. 1083-1091
-
-
Gregory, S.G.1
Schmidt, S.2
Seth, P.3
Oksenberg, J.R.4
Hart, J.5
Prokop, A.6
-
68
-
-
67651152724
-
Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians
-
Rubio J.P., Stankovich J., Field J., Tubridy N., Marriott M., Chapman C., et al. Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians. Genes Immun 9 (2008) 624-630
-
(2008)
Genes Immun
, vol.9
, pp. 624-630
-
-
Rubio, J.P.1
Stankovich, J.2
Field, J.3
Tubridy, N.4
Marriott, M.5
Chapman, C.6
-
69
-
-
67649881102
-
Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20
-
Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20. Nat Genet 41 (2009) 824-828
-
(2009)
Nat Genet
, vol.41
, pp. 824-828
-
-
-
70
-
-
34548367511
-
Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes
-
Lowe C.E., Cooper J.D., Brusko T., Walker N.M., Smyth D.J., Bailey R., et al. Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes. Nat Genet 39 (2007) 1074-1082
-
(2007)
Nat Genet
, vol.39
, pp. 1074-1082
-
-
Lowe, C.E.1
Cooper, J.D.2
Brusko, T.3
Walker, N.M.4
Smyth, D.J.5
Bailey, R.6
-
71
-
-
58149459511
-
Transcriptional regulation of IL-2 in health and autoimmunity
-
Crispin J.C., and Tsokos G.C. Transcriptional regulation of IL-2 in health and autoimmunity. Autoimmun Rev 8 (2009) 190-195
-
(2009)
Autoimmun Rev
, vol.8
, pp. 190-195
-
-
Crispin, J.C.1
Tsokos, G.C.2
-
72
-
-
34347341846
-
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes
-
Todd J.A., Walker N.M., Cooper J.D., Smyth D.J., Downes K., Plagnol V., et al. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet 39 (2007) 857-864
-
(2007)
Nat Genet
, vol.39
, pp. 857-864
-
-
Todd, J.A.1
Walker, N.M.2
Cooper, J.D.3
Smyth, D.J.4
Downes, K.5
Plagnol, V.6
-
73
-
-
29744450121
-
Both IL-12p70 and IL-23 are synthesized during active Crohn's disease and are down-regulated by treatment with anti-IL-12 p40 monoclonal antibody
-
Fuss I.J., Becker C., Yang Z., Groden C., Hornung R.L., Heller F., et al. Both IL-12p70 and IL-23 are synthesized during active Crohn's disease and are down-regulated by treatment with anti-IL-12 p40 monoclonal antibody. Inflamm Bowel Diseases 12 (2006) 9-15
-
(2006)
Inflamm Bowel Diseases
, vol.12
, pp. 9-15
-
-
Fuss, I.J.1
Becker, C.2
Yang, Z.3
Groden, C.4
Hornung, R.L.5
Heller, F.6
-
74
-
-
43449139402
-
Efficacy and safety of ustekinumab, a human interleukin-12/23 monoclonal antibody, in patients with psoriasis: 52-week results from a randomised, double-blind, placebo-controlled trial (PHOENIX 2)
-
Papp K.A., Langley R.G., Lebwohl M., Krueger G.G., Szapary P., Yeilding N., et al. Efficacy and safety of ustekinumab, a human interleukin-12/23 monoclonal antibody, in patients with psoriasis: 52-week results from a randomised, double-blind, placebo-controlled trial (PHOENIX 2). Lancet 371 (2008) 1675-1684
-
(2008)
Lancet
, vol.371
, pp. 1675-1684
-
-
Papp, K.A.1
Langley, R.G.2
Lebwohl, M.3
Krueger, G.G.4
Szapary, P.5
Yeilding, N.6
-
75
-
-
44349124113
-
The genetics and immunopathogenesis of inflammatory bowel disease
-
Cho J.H. The genetics and immunopathogenesis of inflammatory bowel disease. Nat Reviews 8 (2008) 458-466
-
(2008)
Nat Reviews
, vol.8
, pp. 458-466
-
-
Cho, J.H.1
-
76
-
-
33751546237
-
IL-23 stimulates epidermal hyperplasia via TNF and IL-20R2-dependent mechanisms with implications for psoriasis pathogenesis
-
Chan J.R., Blumenschein W., Murphy E., Diveu C., Wiekowski M., Abbondanzo S., et al. IL-23 stimulates epidermal hyperplasia via TNF and IL-20R2-dependent mechanisms with implications for psoriasis pathogenesis. J Exp Med 203 (2006) 2577-2587
-
(2006)
J Exp Med
, vol.203
, pp. 2577-2587
-
-
Chan, J.R.1
Blumenschein, W.2
Murphy, E.3
Diveu, C.4
Wiekowski, M.5
Abbondanzo, S.6
-
77
-
-
18944379196
-
The many faces of IL-7: from lymphopoiesis to peripheral T cell maintenance
-
Fry T.J., and Mackall C.L. The many faces of IL-7: from lymphopoiesis to peripheral T cell maintenance. J Immunol 174 (2005) 6571-6576
-
(2005)
J Immunol
, vol.174
, pp. 6571-6576
-
-
Fry, T.J.1
Mackall, C.L.2
-
78
-
-
34249326972
-
Recent advances in diagnostic technologies and their impact in autoimmune diseases
-
Tozzoli R. Recent advances in diagnostic technologies and their impact in autoimmune diseases. Autoimmun Rev 6 (2007) 334-340
-
(2007)
Autoimmun Rev
, vol.6
, pp. 334-340
-
-
Tozzoli, R.1
-
79
-
-
33746513763
-
The genetic basis of autoantibody production
-
Reveille J.D. The genetic basis of autoantibody production. Autoimmun Rev 5 (2006) 389-398
-
(2006)
Autoimmun Rev
, vol.5
, pp. 389-398
-
-
Reveille, J.D.1
-
80
-
-
38649138296
-
Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus
-
Kozyrev S.V., Abelson A.K., Wojcik J., Zaghlool A., Linga Reddy M.V., Sanchez E., et al. Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. Nat Genet 40 (2008) 211-216
-
(2008)
Nat Genet
, vol.40
, pp. 211-216
-
-
Kozyrev, S.V.1
Abelson, A.K.2
Wojcik, J.3
Zaghlool, A.4
Linga Reddy, M.V.5
Sanchez, E.6
-
81
-
-
40049108936
-
Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX
-
Hom G., Graham R.R., Modrek B., Taylor K.E., Ortmann W., Garnier S., et al. Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. N Engl J Med 358 (2008) 900-909
-
(2008)
N Engl J Med
, vol.358
, pp. 900-909
-
-
Hom, G.1
Graham, R.R.2
Modrek, B.3
Taylor, K.E.4
Ortmann, W.5
Garnier, S.6
-
82
-
-
67849097327
-
Replication of the BANK1 genetic association with systemic lupus erythematosus in a European-derived population
-
Guo L., Deshmukh H., Lu R., Vidal G.S., Kelly J.A., Kaufman K.M., et al. Replication of the BANK1 genetic association with systemic lupus erythematosus in a European-derived population. Gene Immun (2009)
-
(2009)
Gene Immun
-
-
Guo, L.1
Deshmukh, H.2
Lu, R.3
Vidal, G.S.4
Kelly, J.A.5
Kaufman, K.M.6
-
83
-
-
67849118766
-
Association of BANK1 and TNFSF4 with systemic lupus erythematosus in Hong Kong Chinese
-
Chang Y.K., Yang W., Zhao M., Mok C.C., Chan T.M., Wong R.W., et al. Association of BANK1 and TNFSF4 with systemic lupus erythematosus in Hong Kong Chinese. Gene Immun (2009)
-
(2009)
Gene Immun
-
-
Chang, Y.K.1
Yang, W.2
Zhao, M.3
Mok, C.C.4
Chan, T.M.5
Wong, R.W.6
-
84
-
-
59649104460
-
Replication of the association between the C8orf13-BLK region and systemic lupus erythematosus in a Japanese population
-
Ito I., Kawasaki A., Ito S., Hayashi T., Goto D., Matsumoto I., et al. Replication of the association between the C8orf13-BLK region and systemic lupus erythematosus in a Japanese population. Arthritis Rheum 60 (2009) 553-558
-
(2009)
Arthritis Rheum
, vol.60
, pp. 553-558
-
-
Ito, I.1
Kawasaki, A.2
Ito, S.3
Hayashi, T.4
Goto, D.5
Matsumoto, I.6
-
85
-
-
0037080952
-
BANK regulates BCR-induced calcium mobilization by promoting tyrosine phosphorylation of IP(3) receptor
-
Yokoyama K., Su Ih I.H., Tezuka T., Yasuda T., Mikoshiba K., Tarakhovsky A., et al. BANK regulates BCR-induced calcium mobilization by promoting tyrosine phosphorylation of IP(3) receptor. EMBO J 21 (2002) 83-92
-
(2002)
EMBO J
, vol.21
, pp. 83-92
-
-
Yokoyama, K.1
Su Ih, I.H.2
Tezuka, T.3
Yasuda, T.4
Mikoshiba, K.5
Tarakhovsky, A.6
-
86
-
-
33645000184
-
BANK negatively regulates Akt activation and subsequent B cell responses
-
Aiba Y., Yamazaki T., Okada T., Gotoh K., Sanjo H., Ogata M., et al. BANK negatively regulates Akt activation and subsequent B cell responses. Immunity 24 (2006) 259-268
-
(2006)
Immunity
, vol.24
, pp. 259-268
-
-
Aiba, Y.1
Yamazaki, T.2
Okada, T.3
Gotoh, K.4
Sanjo, H.5
Ogata, M.6
-
87
-
-
20144387851
-
Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes
-
Criswell L.A., Pfeiffer K.A., Lum R.F., Gonzales B., Novitzke J., Kern M., et al. Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. Am J Hum Genet 76 (2005) 561-571
-
(2005)
Am J Hum Genet
, vol.76
, pp. 561-571
-
-
Criswell, L.A.1
Pfeiffer, K.A.2
Lum, R.F.3
Gonzales, B.4
Novitzke, J.5
Kern, M.6
-
88
-
-
50449103533
-
Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus
-
Musone S.L., Taylor K.E., Lu T.T., Nititham J., Ferreira R.C., Ortmann W., et al. Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus. Nat Genet 40 (2008) 1062-1064
-
(2008)
Nat Genet
, vol.40
, pp. 1062-1064
-
-
Musone, S.L.1
Taylor, K.E.2
Lu, T.T.3
Nititham, J.4
Ferreira, R.C.5
Ortmann, W.6
-
89
-
-
50449111452
-
Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus
-
Graham R.R., Cotsapas C., Davies L., Hackett R., Lessard C.J., Leon J.M., et al. Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nat Genet 40 (2008) 1059-1061
-
(2008)
Nat Genet
, vol.40
, pp. 1059-1061
-
-
Graham, R.R.1
Cotsapas, C.2
Davies, L.3
Hackett, R.4
Lessard, C.J.5
Leon, J.M.6
-
90
-
-
28144441356
-
Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4
-
Plenge R.M., Padyukov L., Remmers E.F., Purcell S., Lee A.T., Karlson E.W., et al. Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4. Am J Hum Genet 77 (2005) 1044-1060
-
(2005)
Am J Hum Genet
, vol.77
, pp. 1044-1060
-
-
Plenge, R.M.1
Padyukov, L.2
Remmers, E.F.3
Purcell, S.4
Lee, A.T.5
Karlson, E.W.6
-
91
-
-
67649880295
-
REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis
-
Gregersen P.K., Amos C.I., Lee A.T., Lu Y., Remmers E.F., Kastner D.L., et al. REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. Nat Genet 41 (2009) 820-823
-
(2009)
Nat Genet
, vol.41
, pp. 820-823
-
-
Gregersen, P.K.1
Amos, C.I.2
Lee, A.T.3
Lu, Y.4
Remmers, E.F.5
Kastner, D.L.6
-
92
-
-
36549003138
-
Two independent alleles at 6q23 associated with risk of rheumatoid arthritis
-
Plenge R.M., Cotsapas C., Davies L., Price A.L., de Bakker P.I., Maller J., et al. Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat Genet 39 (2007) 1477-1482
-
(2007)
Nat Genet
, vol.39
, pp. 1477-1482
-
-
Plenge, R.M.1
Cotsapas, C.2
Davies, L.3
Price, A.L.4
de Bakker, P.I.5
Maller, J.6
-
93
-
-
34848842161
-
A candidate gene approach identifies the TRAF1/C5 region as a risk factor for rheumatoid arthritis
-
e278
-
Kurreeman F.A., Padyukov L., Marques R.B., Schrodi S.J., Seddighzadeh M., Stoeken-Rijsbergen G., et al. A candidate gene approach identifies the TRAF1/C5 region as a risk factor for rheumatoid arthritis. PLoS Med 4 (2007) e278
-
(2007)
PLoS Med
, vol.4
-
-
Kurreeman, F.A.1
Padyukov, L.2
Marques, R.B.3
Schrodi, S.J.4
Seddighzadeh, M.5
Stoeken-Rijsbergen, G.6
-
94
-
-
67649876123
-
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci
-
De Jager P.L., Jia X., Wang J., de Bakker P.I., Ottoboni L., Aggarwal N.T., et al. Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. Nat Genet 41 (2009) 776-782
-
(2009)
Nat Genet
, vol.41
, pp. 776-782
-
-
De Jager, P.L.1
Jia, X.2
Wang, J.3
de Bakker, P.I.4
Ottoboni, L.5
Aggarwal, N.T.6
-
95
-
-
33646368404
-
A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus
-
Graham R.R., Kozyrev S.V., Baechler E.C., Reddy M.V., Plenge R.M., Bauer J.W., et al. A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus. Nat Genet 38 (2006) 550-555
-
(2006)
Nat Genet
, vol.38
, pp. 550-555
-
-
Graham, R.R.1
Kozyrev, S.V.2
Baechler, E.C.3
Reddy, M.V.4
Plenge, R.M.5
Bauer, J.W.6
-
96
-
-
33745240931
-
A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region
-
Smyth D.J., Cooper J.D., Bailey R., Field S., Burren O., Smink L.J., et al. A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region. Nat Genet 38 (2006) 617-619
-
(2006)
Nat Genet
, vol.38
, pp. 617-619
-
-
Smyth, D.J.1
Cooper, J.D.2
Bailey, R.3
Field, S.4
Burren, O.5
Smink, L.J.6
-
97
-
-
67650709487
-
Recent advances in the genetics of autoimmune disease
-
Gregersen P.K., and Olsson L.M. Recent advances in the genetics of autoimmune disease. Annu review Immunol 27 (2009) 363-391
-
(2009)
Annu review Immunol
, vol.27
, pp. 363-391
-
-
Gregersen, P.K.1
Olsson, L.M.2
-
98
-
-
0942279640
-
PEST domain-enriched tyrosine phosphatase (PEP) regulation of effector/memory T cells
-
Hasegawa K., Martin F., Huang G., Tumas D., Diehl L., and Chan A.C. PEST domain-enriched tyrosine phosphatase (PEP) regulation of effector/memory T cells. Science 303 (2004) 685-689
-
(2004)
Science
, vol.303
, pp. 685-689
-
-
Hasegawa, K.1
Martin, F.2
Huang, G.3
Tumas, D.4
Diehl, L.5
Chan, A.C.6
-
99
-
-
43849091645
-
Reduced CD4+T cell activation in children with type 1 diabetes carrying the PTPN22/Lyp 620Trp variant
-
Aarnisalo J., Treszl A., Svec P., Marttila J., Oling V., Simell O., et al. Reduced CD4+T cell activation in children with type 1 diabetes carrying the PTPN22/Lyp 620Trp variant. J Autoimmun 31 (2008) 13-21
-
(2008)
J Autoimmun
, vol.31
, pp. 13-21
-
-
Aarnisalo, J.1
Treszl, A.2
Svec, P.3
Marttila, J.4
Oling, V.5
Simell, O.6
-
100
-
-
62049085384
-
Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort
-
Weersma R.K., Stokkers P.C., Cleynen I., Wolfkamp S.C., Henckaerts L., Schreiber S., et al. Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort. Am J Gastroenterol 104 (2009) 630-638
-
(2009)
Am J Gastroenterol
, vol.104
, pp. 630-638
-
-
Weersma, R.K.1
Stokkers, P.C.2
Cleynen, I.3
Wolfkamp, S.C.4
Henckaerts, L.5
Schreiber, S.6
-
101
-
-
34247881790
-
Nonreceptor protein-tyrosine phosphatases in immune cell signaling
-
Pao L.I., Badour K., Siminovitch K.A., and Neel B.G. Nonreceptor protein-tyrosine phosphatases in immune cell signaling. Annu Rev Immunol 25 (2007) 473-523
-
(2007)
Annu Rev Immunol
, vol.25
, pp. 473-523
-
-
Pao, L.I.1
Badour, K.2
Siminovitch, K.A.3
Neel, B.G.4
-
102
-
-
0002074139
-
The "Autoimmune diseases" 40th anniversary
-
Mackay I.R. The "Autoimmune diseases" 40th anniversary. Autoimmun Rev 1 (2002) 5-11
-
(2002)
Autoimmun Rev
, vol.1
, pp. 5-11
-
-
Mackay, I.R.1
-
103
-
-
67349199596
-
The etiology of autoimmune thyroid disease: a story of genes and environment
-
Tomer Y., and Huber A. The etiology of autoimmune thyroid disease: a story of genes and environment. J Autoimmun 32 (2009) 231-239
-
(2009)
J Autoimmun
, vol.32
, pp. 231-239
-
-
Tomer, Y.1
Huber, A.2
-
104
-
-
56649112944
-
Immune deficiency or hyperactivity-Nf-kappab illuminates autoimmunity
-
Pai S., and Thomas R. Immune deficiency or hyperactivity-Nf-kappab illuminates autoimmunity. J Autoimmun 31 (2008) 245-251
-
(2008)
J Autoimmun
, vol.31
, pp. 245-251
-
-
Pai, S.1
Thomas, R.2
-
105
-
-
34548562412
-
Autophagy: highlighting a novel player in the autoimmunity scenario
-
Lleo A., Invernizzi P., Selmi C., Coppel R.L., Alpini G., Podda M., et al. Autophagy: highlighting a novel player in the autoimmunity scenario. J Autoimmun 29 (2007) 61-68
-
(2007)
J Autoimmun
, vol.29
, pp. 61-68
-
-
Lleo, A.1
Invernizzi, P.2
Selmi, C.3
Coppel, R.L.4
Alpini, G.5
Podda, M.6
-
107
-
-
44949149145
-
Specificity of the STAT4 genetic association for severe disease manifestations of systemic lupus erythematosus
-
e1000084
-
Taylor K.E., Remmers E.F., Lee A.T., Ortmann W.A., Plenge R.M., Tian C., et al. Specificity of the STAT4 genetic association for severe disease manifestations of systemic lupus erythematosus. PLoS Genetics 4 (2008) e1000084
-
(2008)
PLoS Genetics
, vol.4
-
-
Taylor, K.E.1
Remmers, E.F.2
Lee, A.T.3
Ortmann, W.A.4
Plenge, R.M.5
Tian, C.6
-
108
-
-
13844292408
-
Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus
-
Sigurdsson S., Nordmark G., Goring H.H., Lindroos K., Wiman A.C., Sturfelt G., et al. Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. Am J Hum Genet 76 (2005) 528-537
-
(2005)
Am J Hum Genet
, vol.76
, pp. 528-537
-
-
Sigurdsson, S.1
Nordmark, G.2
Goring, H.H.3
Lindroos, K.4
Wiman, A.C.5
Sturfelt, G.6
-
109
-
-
34249860408
-
Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus
-
Graham R.R., Kyogoku C., Sigurdsson S., Vlasova I.A., Davies L.R., Baechler E.C., et al. Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus. Proc Natl Acad Sci U S A 104 (2007) 6758-6763
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 6758-6763
-
-
Graham, R.R.1
Kyogoku, C.2
Sigurdsson, S.3
Vlasova, I.A.4
Davies, L.R.5
Baechler, E.C.6
-
110
-
-
35449004944
-
Toll like receptors and autoimmunity: a critical appraisal
-
Papadimitraki E.D., Bertsias G.K., and Boumpas D.T. Toll like receptors and autoimmunity: a critical appraisal. J Autoimmun 29 (2007) 310-318
-
(2007)
J Autoimmun
, vol.29
, pp. 310-318
-
-
Papadimitraki, E.D.1
Bertsias, G.K.2
Boumpas, D.T.3
-
111
-
-
49449104525
-
Association of the IRF5 risk haplotype with high serum interferon-alpha activity in systemic lupus erythematosus patients
-
Niewold T.B., Kelly J.A., Flesch M.H., Espinoza L.R., Harley J.B., and Crow M.K. Association of the IRF5 risk haplotype with high serum interferon-alpha activity in systemic lupus erythematosus patients. Arthritis Rheum 58 (2008) 2481-2487
-
(2008)
Arthritis Rheum
, vol.58
, pp. 2481-2487
-
-
Niewold, T.B.1
Kelly, J.A.2
Flesch, M.H.3
Espinoza, L.R.4
Harley, J.B.5
Crow, M.K.6
-
112
-
-
35348917269
-
Association of STAT4 with rheumatoid arthritis in the Korean population
-
Lee H.S., Remmers E.F., Le J.M., Kastner D.L., Bae S.C., and Gregersen P.K. Association of STAT4 with rheumatoid arthritis in the Korean population. Mol Med 13 (2007) 455-460
-
(2007)
Mol Med
, vol.13
, pp. 455-460
-
-
Lee, H.S.1
Remmers, E.F.2
Le, J.M.3
Kastner, D.L.4
Bae, S.C.5
Gregersen, P.K.6
-
113
-
-
47249119222
-
Association of STAT4 with susceptibility to rheumatoid arthritis and systemic lupus erythematosus in the Japanese population
-
Kobayashi S., Ikari K., Kaneko H., Kochi Y., Yamamoto K., Shimane K., et al. Association of STAT4 with susceptibility to rheumatoid arthritis and systemic lupus erythematosus in the Japanese population. Arthritis Rheum 58 (2008) 1940-1946
-
(2008)
Arthritis Rheum
, vol.58
, pp. 1940-1946
-
-
Kobayashi, S.1
Ikari, K.2
Kaneko, H.3
Kochi, Y.4
Yamamoto, K.5
Shimane, K.6
-
114
-
-
65249157054
-
High-density genotyping of STAT4 reveals multiple haplotypic associations with systemic lupus erythematosus in different racial groups
-
Namjou B., Sestak A.L., Armstrong D.L., Zidovetzki R., Kelly J.A., Jacob N., et al. High-density genotyping of STAT4 reveals multiple haplotypic associations with systemic lupus erythematosus in different racial groups. Arthritis Rheum 60 (2009) 1085-1095
-
(2009)
Arthritis Rheum
, vol.60
, pp. 1085-1095
-
-
Namjou, B.1
Sestak, A.L.2
Armstrong, D.L.3
Zidovetzki, R.4
Kelly, J.A.5
Jacob, N.6
-
115
-
-
38649125210
-
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci
-
Harley J.B., Alarcon-Riquelme M.E., Criswell L.A., Jacob C.O., Kimberly R.P., Moser K.L., et al. Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet 40 (2008) 204-210
-
(2008)
Nat Genet
, vol.40
, pp. 204-210
-
-
Harley, J.B.1
Alarcon-Riquelme, M.E.2
Criswell, L.A.3
Jacob, C.O.4
Kimberly, R.P.5
Moser, K.L.6
-
116
-
-
33947257812
-
Targeting of the transcription factor STAT4 by antisense phosphorothioate oligonucleotides suppresses collagen-induced arthritis
-
Hildner K.M., Schirmacher P., Atreya I., Dittmayer M., Bartsch B., Galle P.R., et al. Targeting of the transcription factor STAT4 by antisense phosphorothioate oligonucleotides suppresses collagen-induced arthritis. J Immunol 178 (2007) 3427-3436
-
(2007)
J Immunol
, vol.178
, pp. 3427-3436
-
-
Hildner, K.M.1
Schirmacher, P.2
Atreya, I.3
Dittmayer, M.4
Bartsch, B.5
Galle, P.R.6
-
117
-
-
0037648405
-
Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease
-
Ueda H., Howson J.M., Esposito L., Heward J., Snook H., Chamberlain G., et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 423 (2003) 506-511
-
(2003)
Nature
, vol.423
, pp. 506-511
-
-
Ueda, H.1
Howson, J.M.2
Esposito, L.3
Heward, J.4
Snook, H.5
Chamberlain, G.6
-
118
-
-
47249153181
-
CTLA-4: a key regulatory point in the control of autoimmune disease
-
Scalapino K.J., and Daikh D.I. CTLA-4: a key regulatory point in the control of autoimmune disease. Immunol Rev 223 (2008) 143-155
-
(2008)
Immunol Rev
, vol.223
, pp. 143-155
-
-
Scalapino, K.J.1
Daikh, D.I.2
-
119
-
-
38449091537
-
CTLA-4: from conflict to clinic
-
Bashyam H. CTLA-4: from conflict to clinic. J Exp Med 204 (2007) 1243
-
(2007)
J Exp Med
, vol.204
, pp. 1243
-
-
Bashyam, H.1
-
120
-
-
54549119268
-
Co-stimulatory modulation in rheumatoid arthritis: the role of (CTLA4-Ig) abatacept
-
Fiocco U., Sfriso P., Oliviero F., Pagnin E., Scagliori E., Campana C., et al. Co-stimulatory modulation in rheumatoid arthritis: the role of (CTLA4-Ig) abatacept. Autoimmun Rev 8 (2008) 76-82
-
(2008)
Autoimmun Rev
, vol.8
, pp. 76-82
-
-
Fiocco, U.1
Sfriso, P.2
Oliviero, F.3
Pagnin, E.4
Scagliori, E.5
Campana, C.6
-
121
-
-
0242574700
-
Treatment of rheumatoid arthritis by selective inhibition of T-cell activation with fusion protein CTLA4Ig
-
Kremer J.M., Westhovens R., Leon M., Di Giorgio E., Alten R., Steinfeld S., et al. Treatment of rheumatoid arthritis by selective inhibition of T-cell activation with fusion protein CTLA4Ig. N Engl J Med 349 (2003) 1907-1915
-
(2003)
N Engl J Med
, vol.349
, pp. 1907-1915
-
-
Kremer, J.M.1
Westhovens, R.2
Leon, M.3
Di Giorgio, E.4
Alten, R.5
Steinfeld, S.6
-
122
-
-
10744229779
-
Frequency of monosomy X in women with primary biliary cirrhosis
-
Invernizzi P., Miozzo M., Battezzati P.M., Bianchi I., Grati F.R., Simoni G., et al. Frequency of monosomy X in women with primary biliary cirrhosis. Lancet 363 (2004) 533-535
-
(2004)
Lancet
, vol.363
, pp. 533-535
-
-
Invernizzi, P.1
Miozzo, M.2
Battezzati, P.M.3
Bianchi, I.4
Grati, F.R.5
Simoni, G.6
-
123
-
-
67349226871
-
Future directions in genetic for autoimmune diseases
-
Invernizzi P. Future directions in genetic for autoimmune diseases. J Autoimmun 33 (2009) 1-2
-
(2009)
J Autoimmun
, vol.33
, pp. 1-2
-
-
Invernizzi, P.1
-
124
-
-
35548965046
-
Immunological and genetic bases of new primary immunodeficiencies
-
Marodi L., and Notarangelo L.D. Immunological and genetic bases of new primary immunodeficiencies. Nat Reviews 7 (2007) 851-861
-
(2007)
Nat Reviews
, vol.7
, pp. 851-861
-
-
Marodi, L.1
Notarangelo, L.D.2
-
125
-
-
0033758620
-
Female sex preponderance for idiopathic familial premature ovarian failure suggests an X chromosome defect: opinion
-
Davis C.J., Davison R.M., Payne N.N., Rodeck C.H., and Conway G.S. Female sex preponderance for idiopathic familial premature ovarian failure suggests an X chromosome defect: opinion. Hum Reprod 15 (2000) 2418-2422
-
(2000)
Hum Reprod
, vol.15
, pp. 2418-2422
-
-
Davis, C.J.1
Davison, R.M.2
Payne, N.N.3
Rodeck, C.H.4
Conway, G.S.5
-
126
-
-
0035963921
-
Turner's syndrome
-
Ranke M.B., and Saenger P. Turner's syndrome. Lancet 358 (2001) 309-314
-
(2001)
Lancet
, vol.358
, pp. 309-314
-
-
Ranke, M.B.1
Saenger, P.2
-
127
-
-
0035554904
-
Sex differences in autoimmune disease
-
Whitacre C.C. Sex differences in autoimmune disease. Nat Immunol 2 (2001) 777-780
-
(2001)
Nat Immunol
, vol.2
, pp. 777-780
-
-
Whitacre, C.C.1
-
128
-
-
33847083891
-
Gender as risk factor for autoimmune diseases
-
Gleicher N., and Barad D.H. Gender as risk factor for autoimmune diseases. J Autoimmun 28 (2007) 1-6
-
(2007)
J Autoimmun
, vol.28
, pp. 1-6
-
-
Gleicher, N.1
Barad, D.H.2
-
130
-
-
43549091132
-
A role for sex chromosome complement in the female bias in autoimmune disease
-
Smith-Bouvier D.L., Divekar A.A., Sasidhar M., Du S., Tiwari-Woodruff S.K., King J.K., et al. A role for sex chromosome complement in the female bias in autoimmune disease. J Exp Med 205 (2008) 1099-1108
-
(2008)
J Exp Med
, vol.205
, pp. 1099-1108
-
-
Smith-Bouvier, D.L.1
Divekar, A.A.2
Sasidhar, M.3
Du, S.4
Tiwari-Woodruff, S.K.5
King, J.K.6
-
132
-
-
35748975162
-
X monosomy in female systemic lupus erythematosus
-
Invernizzi P., Miozzo M., Oertelt-Prigione S., Meroni P.L., Persani L., Selmi C., et al. X monosomy in female systemic lupus erythematosus. Ann N Y Acad Sci 1110 (2007) 84-91
-
(2007)
Ann N Y Acad Sci
, vol.1110
, pp. 84-91
-
-
Invernizzi, P.1
Miozzo, M.2
Oertelt-Prigione, S.3
Meroni, P.L.4
Persani, L.5
Selmi, C.6
-
133
-
-
21244456843
-
X chromosome monosomy: a common mechanism for autoimmune diseases
-
Invernizzi P., Miozzo M., Selmi C., Persani L., Battezzati P.M., Zuin M., et al. X chromosome monosomy: a common mechanism for autoimmune diseases. J Immunol 175 (2005) 575-578
-
(2005)
J Immunol
, vol.175
, pp. 575-578
-
-
Invernizzi, P.1
Miozzo, M.2
Selmi, C.3
Persani, L.4
Battezzati, P.M.5
Zuin, M.6
-
134
-
-
49449099801
-
Klinefelter's syndrome (47, XXY) in male systemic lupus erythematosus patients: support for the notion of a gene-dose effect from the X chromosome
-
Scofield R.H., Bruner G.R., Namjou B., Kimberly R.P., Ramsey-Goldman R., Petri M., et al. Klinefelter's syndrome (47, XXY) in male systemic lupus erythematosus patients: support for the notion of a gene-dose effect from the X chromosome. Arthritis Rheum 58 (2008) 2511-2517
-
(2008)
Arthritis Rheum
, vol.58
, pp. 2511-2517
-
-
Scofield, R.H.1
Bruner, G.R.2
Namjou, B.3
Kimberly, R.P.4
Ramsey-Goldman, R.5
Petri, M.6
-
135
-
-
0033674607
-
The causes and consequences of random and non-random X chromosome inactivation in humans
-
Brown C.J., and Robinson W.P. The causes and consequences of random and non-random X chromosome inactivation in humans. Clin Genet 58 (2000) 353-363
-
(2000)
Clin Genet
, vol.58
, pp. 353-363
-
-
Brown, C.J.1
Robinson, W.P.2
-
136
-
-
0033762221
-
Age- and tissue-specific variation of X chromosome inactivation ratios in normal women
-
Sharp A., Robinson D., and Jacobs P. Age- and tissue-specific variation of X chromosome inactivation ratios in normal women. Hum Genet 107 (2000) 343-349
-
(2000)
Hum Genet
, vol.107
, pp. 343-349
-
-
Sharp, A.1
Robinson, D.2
Jacobs, P.3
-
137
-
-
26244458907
-
Age-associated skewing of X-inactivation ratios of blood cells in normal females: a candidate-gene analysis approach
-
Chagnon P., Provost S., Belisle C., Bolduc V., Gingras M., and Busque L. Age-associated skewing of X-inactivation ratios of blood cells in normal females: a candidate-gene analysis approach. Exp Hematol 33 (2005) 1209-1214
-
(2005)
Exp Hematol
, vol.33
, pp. 1209-1214
-
-
Chagnon, P.1
Provost, S.2
Belisle, C.3
Bolduc, V.4
Gingras, M.5
Busque, L.6
-
138
-
-
15244353967
-
X-inactivation profile reveals extensive variability in X-linked gene expression in females
-
Carrel L., and Willard H.F. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 434 (2005) 400-404
-
(2005)
Nature
, vol.434
, pp. 400-404
-
-
Carrel, L.1
Willard, H.F.2
-
139
-
-
42649143294
-
Skewing of X chromosome inactivation in autoimmunity
-
Invernizzi P., Pasini S., Selmi C., Miozzo M., and Podda M. Skewing of X chromosome inactivation in autoimmunity. Autoimmunity 41 (2008) 272-277
-
(2008)
Autoimmunity
, vol.41
, pp. 272-277
-
-
Invernizzi, P.1
Pasini, S.2
Selmi, C.3
Miozzo, M.4
Podda, M.5
-
140
-
-
0030694627
-
X-chromosome inactivation in monozygotic twins with systemic lupus erythematosus
-
Huang Q., Parfitt A., Grennan D.M., and Manolios N. X-chromosome inactivation in monozygotic twins with systemic lupus erythematosus. Autoimmunity 26 (1997) 85-93
-
(1997)
Autoimmunity
, vol.26
, pp. 85-93
-
-
Huang, Q.1
Parfitt, A.2
Grennan, D.M.3
Manolios, N.4
-
141
-
-
0034468292
-
The role of X-chromosome inactivation in female predisposition to autoimmunity
-
Chitnis S., Monteiro J., Glass D., Apatoff B., Salmon J., Concannon P., et al. The role of X-chromosome inactivation in female predisposition to autoimmunity. Arthritis Res 2 (2000) 399-406
-
(2000)
Arthritis Res
, vol.2
, pp. 399-406
-
-
Chitnis, S.1
Monteiro, J.2
Glass, D.3
Apatoff, B.4
Salmon, J.5
Concannon, P.6
-
142
-
-
36248946058
-
X chromosome inactivation in females with multiple sclerosis
-
Knudsen G.P., Harbo H.F., Smestad C., Celius E.G., Akesson E., Oturai A., et al. X chromosome inactivation in females with multiple sclerosis. Eur J Neurol 14 (2007) 1392-1396
-
(2007)
Eur J Neurol
, vol.14
, pp. 1392-1396
-
-
Knudsen, G.P.1
Harbo, H.F.2
Smestad, C.3
Celius, E.G.4
Akesson, E.5
Oturai, A.6
-
143
-
-
34548303660
-
Preferential X chromosome loss but random inactivation characterize primary biliary cirrhosis
-
Miozzo M., Selmi C., Gentilin B., Grati F.R., Sirchia S., Oertelt S., et al. Preferential X chromosome loss but random inactivation characterize primary biliary cirrhosis. Hepatol (Baltimore MD) 46 (2007) 456-462
-
(2007)
Hepatol (Baltimore MD)
, vol.46
, pp. 456-462
-
-
Miozzo, M.1
Selmi, C.2
Gentilin, B.3
Grati, F.R.4
Sirchia, S.5
Oertelt, S.6
-
144
-
-
33744503390
-
Evidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female predisposition to autoimmunity
-
Ozcelik T., Uz E., Akyerli C.B., Bagislar S., Mustafa C.A., Gursoy A., et al. Evidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female predisposition to autoimmunity. Eur J Hum Genet 14 (2006) 791-797
-
(2006)
Eur J Hum Genet
, vol.14
, pp. 791-797
-
-
Ozcelik, T.1
Uz, E.2
Akyerli, C.B.3
Bagislar, S.4
Mustafa, C.A.5
Gursoy, A.6
-
145
-
-
18544413131
-
Skewed X chromosome inactivation in blood cells of women with scleroderma
-
Ozbalkan Z., Bagislar S., Kiraz S., Akyerli C.B., Ozer H.T., Yavuz S., et al. Skewed X chromosome inactivation in blood cells of women with scleroderma. Arthritis Rheum 52 (2005) 1564-1570
-
(2005)
Arthritis Rheum
, vol.52
, pp. 1564-1570
-
-
Ozbalkan, Z.1
Bagislar, S.2
Kiraz, S.3
Akyerli, C.B.4
Ozer, H.T.5
Yavuz, S.6
-
146
-
-
27744454481
-
High frequency of skewed X-chromosome inactivation in females with autoimmune thyroid disease: a possible explanation for the female predisposition to thyroid autoimmunity
-
Brix T.H., Knudsen G.P., Kristiansen M., Kyvik K.O., Orstavik K.H., and Hegedus L. High frequency of skewed X-chromosome inactivation in females with autoimmune thyroid disease: a possible explanation for the female predisposition to thyroid autoimmunity. J Clin Endocrinol Metabolism 90 (2005) 5949-5953
-
(2005)
J Clin Endocrinol Metabolism
, vol.90
, pp. 5949-5953
-
-
Brix, T.H.1
Knudsen, G.P.2
Kristiansen, M.3
Kyvik, K.O.4
Orstavik, K.H.5
Hegedus, L.6
-
147
-
-
35748941353
-
Thyroid epigenetics: X chromosome inactivation in patients with autoimmune thyroid disease
-
Yin X., Latif R., Tomer Y., and Davies T.F. Thyroid epigenetics: X chromosome inactivation in patients with autoimmune thyroid disease. Ann New Y Acad Sci 1110 (2007) 193-200
-
(2007)
Ann New Y Acad Sci
, vol.1110
, pp. 193-200
-
-
Yin, X.1
Latif, R.2
Tomer, Y.3
Davies, T.F.4
-
148
-
-
49349084347
-
X chromosome inactivation and female predisposition to autoimmunity
-
Ozcelik T. X chromosome inactivation and female predisposition to autoimmunity. Clin Rev Allergy Immunol 34 (2008) 348-351
-
(2008)
Clin Rev Allergy Immunol
, vol.34
, pp. 348-351
-
-
Ozcelik, T.1
-
149
-
-
67349248095
-
X-linked primary immunodeficiencies as a bridge to better understanding X-chromosome related autoimmunity
-
Pessach I.M., and Notarangelo L.D. X-linked primary immunodeficiencies as a bridge to better understanding X-chromosome related autoimmunity. J Autoimmun 33 (2009) 17-24
-
(2009)
J Autoimmun
, vol.33
, pp. 17-24
-
-
Pessach, I.M.1
Notarangelo, L.D.2
-
150
-
-
67349108780
-
Autoimmune stigmata in Turner syndrome: when lacks an X chromosome
-
Larizza D., Calcaterra V., and Martinetti M. Autoimmune stigmata in Turner syndrome: when lacks an X chromosome. J Autoimmun 33 (2009) 25-30
-
(2009)
J Autoimmun
, vol.33
, pp. 25-30
-
-
Larizza, D.1
Calcaterra, V.2
Martinetti, M.3
-
151
-
-
67349112110
-
Primary Ovarian Insufficiency: X chromosome defects and autoimmunity
-
Persani L., Rossetti R., Cacciatore C., and Bonomi M. Primary Ovarian Insufficiency: X chromosome defects and autoimmunity. J Autoimmun 33 (2009) 35-41
-
(2009)
J Autoimmun
, vol.33
, pp. 35-41
-
-
Persani, L.1
Rossetti, R.2
Cacciatore, C.3
Bonomi, M.4
-
152
-
-
65849285253
-
Autoimmunity and Klinefelter's syndrome: when men have two X chromosomes
-
Sawalha A.H., Harley J.B., and Scofield R.H. Autoimmunity and Klinefelter's syndrome: when men have two X chromosomes. J Autoimmun 33 (2009) 31-34
-
(2009)
J Autoimmun
, vol.33
, pp. 31-34
-
-
Sawalha, A.H.1
Harley, J.B.2
Scofield, R.H.3
-
153
-
-
67349236051
-
The genetics and epigenetics of autoimmune diseases
-
Hewagama A., and Richardson B. The genetics and epigenetics of autoimmune diseases. J Autoimmun 33 (2009) 3-11
-
(2009)
J Autoimmun
, vol.33
, pp. 3-11
-
-
Hewagama, A.1
Richardson, B.2
-
155
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon R., Ishikawa S., Fitch K.R., Feuk L., Perry G.H., Andrews T.D., et al. Global variation in copy number in the human genome. Nature 444 (2006) 444-454
-
(2006)
Nature
, vol.444
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
Feuk, L.4
Perry, G.H.5
Andrews, T.D.6
-
156
-
-
34249815834
-
FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity
-
Fanciulli M., Norsworthy P.J., Petretto E., Dong R., Harper L., Kamesh L., et al. FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity. Nat Genet 39 (2007) 721-723
-
(2007)
Nat Genet
, vol.39
, pp. 721-723
-
-
Fanciulli, M.1
Norsworthy, P.J.2
Petretto, E.3
Dong, R.4
Harper, L.5
Kamesh, L.6
-
157
-
-
32844460938
-
Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans
-
Aitman T.J., Dong R., Vyse T.J., Norsworthy P.J., Johnson M.D., Smith J., et al. Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature 439 (2006) 851-855
-
(2006)
Nature
, vol.439
, pp. 851-855
-
-
Aitman, T.J.1
Dong, R.2
Vyse, T.J.3
Norsworthy, P.J.4
Johnson, M.D.5
Smith, J.6
-
158
-
-
46949096094
-
Copy number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake
-
Willcocks L.C., Lyons P.A., Clatworthy M.R., Robinson J.I., Yang W., Newland S.A., et al. Copy number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake. J Exp Med 205 (2008) 1573-1582
-
(2008)
J Exp Med
, vol.205
, pp. 1573-1582
-
-
Willcocks, L.C.1
Lyons, P.A.2
Clatworthy, M.R.3
Robinson, J.I.4
Yang, W.5
Newland, S.A.6
-
159
-
-
34250841166
-
Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans
-
Yang Y., Chung E.K., Wu Y.L., Savelli S.L., Nagaraja H.N., Zhou B., et al. Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans. Am J Hum Genet 80 (2007) 1037-1054
-
(2007)
Am J Hum Genet
, vol.80
, pp. 1037-1054
-
-
Yang, Y.1
Chung, E.K.2
Wu, Y.L.3
Savelli, S.L.4
Nagaraja, H.N.5
Zhou, B.6
-
160
-
-
47949087731
-
CCL3L1 gene-containing segmental duplications and polymorphisms in CCR5 affect risk of systemic lupus erythaematosus
-
Mamtani M., Rovin B., Brey R., Camargo J.F., Kulkarni H., Herrera M., et al. CCL3L1 gene-containing segmental duplications and polymorphisms in CCR5 affect risk of systemic lupus erythaematosus. Ann Rheum Dis 67 (2008) 1076-1083
-
(2008)
Ann Rheum Dis
, vol.67
, pp. 1076-1083
-
-
Mamtani, M.1
Rovin, B.2
Brey, R.3
Camargo, J.F.4
Kulkarni, H.5
Herrera, M.6
-
161
-
-
38949142316
-
Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic purpura
-
Breunis W.B., van Mirre E., Bruin M., Geissler J., de Boer M., Peters M., et al. Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic purpura. Blood 111 (2008) 1029-1038
-
(2008)
Blood
, vol.111
, pp. 1029-1038
-
-
Breunis, W.B.1
van Mirre, E.2
Bruin, M.3
Geissler, J.4
de Boer, M.5
Peters, M.6
-
162
-
-
37549033125
-
Psoriasis is associated with increased beta-defensin genomic copy number
-
Hollox E.J., Huffmeier U., Zeeuwen P.L., Palla R., Lascorz J., Rodijk-Olthuis D., et al. Psoriasis is associated with increased beta-defensin genomic copy number. Nat Genet 40 (2008) 23-25
-
(2008)
Nat Genet
, vol.40
, pp. 23-25
-
-
Hollox, E.J.1
Huffmeier, U.2
Zeeuwen, P.L.3
Palla, R.4
Lascorz, J.5
Rodijk-Olthuis, D.6
-
163
-
-
33748558056
-
A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon
-
Fellermann K., Stange D.E., Schaeffeler E., Schmalzl H., Wehkamp J., Bevins C.L., et al. A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon. Am J Hum Genet 79 (2006) 439-448
-
(2006)
Am J Hum Genet
, vol.79
, pp. 439-448
-
-
Fellermann, K.1
Stange, D.E.2
Schaeffeler, E.3
Schmalzl, H.4
Wehkamp, J.5
Bevins, C.L.6
-
164
-
-
39549091294
-
Evidence for an influence of chemokine ligand 3-like 1 (CCL3L1) gene copy number on susceptibility to rheumatoid arthritis
-
McKinney C., Merriman M.E., Chapman P.T., Gow P.J., Harrison A.A., Highton J., et al. Evidence for an influence of chemokine ligand 3-like 1 (CCL3L1) gene copy number on susceptibility to rheumatoid arthritis. Ann Rheum Dis 67 (2008) 409-413
-
(2008)
Ann Rheum Dis
, vol.67
, pp. 409-413
-
-
McKinney, C.1
Merriman, M.E.2
Chapman, P.T.3
Gow, P.J.4
Harrison, A.A.5
Highton, J.6
-
165
-
-
34548327158
-
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus
-
Lee-Kirsch M.A., Gong M., Chowdhury D., Senenko L., Engel K., Lee Y.A., et al. Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet 39 (2007) 1065-1067
-
(2007)
Nat Genet
, vol.39
, pp. 1065-1067
-
-
Lee-Kirsch, M.A.1
Gong, M.2
Chowdhury, D.3
Senenko, L.4
Engel, K.5
Lee, Y.A.6
-
166
-
-
0034969437
-
Are rare variants responsible for susceptibility to complex diseases?
-
Pritchard J.K. Are rare variants responsible for susceptibility to complex diseases?. Am J Hum Genet 69 (2001) 124-137
-
(2001)
Am J Hum Genet
, vol.69
, pp. 124-137
-
-
Pritchard, J.K.1
-
167
-
-
8644235804
-
Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas
-
Fearnhead N.S., Wilding J.L., Winney B., Tonks S., Bartlett S., Bicknell D.C., et al. Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas. Proc Natl Acad Sci U S A 101 (2004) 15992-15997
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 15992-15997
-
-
Fearnhead, N.S.1
Wilding, J.L.2
Winney, B.3
Tonks, S.4
Bartlett, S.5
Bicknell, D.C.6
-
168
-
-
3843056691
-
Multiple rare alleles contribute to low plasma levels of HDL cholesterol
-
Cohen J.C., Kiss R.S., Pertsemlidis A., Marcel Y.L., McPherson R., and Hobbs H.H. Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 305 (2004) 869-872
-
(2004)
Science
, vol.305
, pp. 869-872
-
-
Cohen, J.C.1
Kiss, R.S.2
Pertsemlidis, A.3
Marcel, Y.L.4
McPherson, R.5
Hobbs, H.H.6
-
169
-
-
39149115057
-
Cell and gene therapy using mesenchymal stem cells (MSCs)
-
Ozawa K., Sato K., Oh I., Ozaki K., Uchibori R., Obara Y., et al. Cell and gene therapy using mesenchymal stem cells (MSCs). J Autoimmun 30 (2008) 121-127
-
(2008)
J Autoimmun
, vol.30
, pp. 121-127
-
-
Ozawa, K.1
Sato, K.2
Oh, I.3
Ozaki, K.4
Uchibori, R.5
Obara, Y.6
-
170
-
-
56749133320
-
The autoimmunologist: geoepidemiology, a new center of gravity, and prime time for autoimmunity
-
Shoenfeld Y., Selmi C., Zimlichman E., and Gershwin M.E. The autoimmunologist: geoepidemiology, a new center of gravity, and prime time for autoimmunity. J Autoimmun 31 (2008) 325-330
-
(2008)
J Autoimmun
, vol.31
, pp. 325-330
-
-
Shoenfeld, Y.1
Selmi, C.2
Zimlichman, E.3
Gershwin, M.E.4
-
171
-
-
56349163788
-
A tribute to an outstanding immunologist - Ian Reay Mackay
-
Whittingham S., Rowley M.J., and Gershwin M.E. A tribute to an outstanding immunologist - Ian Reay Mackay. J Autoimmun 31 (2008) 197-200
-
(2008)
J Autoimmun
, vol.31
, pp. 197-200
-
-
Whittingham, S.1
Rowley, M.J.2
Gershwin, M.E.3
-
172
-
-
39149125765
-
Bone marrow transplantation, refractory autoimmunity and the contributions of Susumu Ikehara
-
Gershwin M.E. Bone marrow transplantation, refractory autoimmunity and the contributions of Susumu Ikehara. J Autoimmun 30 (2008) 105-107
-
(2008)
J Autoimmun
, vol.30
, pp. 105-107
-
-
Gershwin, M.E.1
-
173
-
-
38049050759
-
Autoimmunity: from the mosaic to the kaleidoscope
-
Blank M., and Gershwin M.E. Autoimmunity: from the mosaic to the kaleidoscope. J Autoimmun 30 (2008) 1-4
-
(2008)
J Autoimmun
, vol.30
, pp. 1-4
-
-
Blank, M.1
Gershwin, M.E.2
-
174
-
-
35748981184
-
Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants
-
Burton P.R., Clayton D.G., Cardon L.R., Craddock N., Deloukas P., Duncanson A., et al. Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet 39 (2007) 1329-1337
-
(2007)
Nat Genet
, vol.39
, pp. 1329-1337
-
-
Burton, P.R.1
Clayton, D.G.2
Cardon, L.R.3
Craddock, N.4
Deloukas, P.5
Duncanson, A.6
-
175
-
-
0042667153
-
Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis
-
Suzuki A., Yamada R., Chang X., Tokuhiro S., Sawada T., Suzuki M., et al. Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis. Nat Genet 34 (2003) 395-402
-
(2003)
Nat Genet
, vol.34
, pp. 395-402
-
-
Suzuki, A.1
Yamada, R.2
Chang, X.3
Tokuhiro, S.4
Sawada, T.5
Suzuki, M.6
-
176
-
-
36549005027
-
Rheumatoid arthritis association at 6q23
-
Thomson W., Barton A., Ke X., Eyre S., Hinks A., Bowes J., et al. Rheumatoid arthritis association at 6q23. Nat Genet 39 (2007) 1431-1433
-
(2007)
Nat Genet
, vol.39
, pp. 1431-1433
-
-
Thomson, W.1
Barton, A.2
Ke, X.3
Eyre, S.4
Hinks, A.5
Bowes, J.6
-
177
-
-
34548849168
-
TRAF1-C5 as a risk locus for rheumatoid arthritis-a genomewide study
-
Plenge R.M., Seielstad M., Padyukov L., Lee A.T., Remmers E.F., Ding B., et al. TRAF1-C5 as a risk locus for rheumatoid arthritis-a genomewide study. New Engl Journal Medicine 357 (2007) 1199-1209
-
(2007)
New Engl Journal Medicine
, vol.357
, pp. 1199-1209
-
-
Plenge, R.M.1
Seielstad, M.2
Padyukov, L.3
Lee, A.T.4
Remmers, E.F.5
Ding, B.6
-
178
-
-
52949111858
-
Common variants at CD40 and other loci confer risk of rheumatoid arthritis
-
Raychaudhuri S., Remmers E.F., Lee A.T., Hackett R., Guiducci C., Burtt N.P., et al. Common variants at CD40 and other loci confer risk of rheumatoid arthritis. Nat Genet 40 (2008) 1216-1223
-
(2008)
Nat Genet
, vol.40
, pp. 1216-1223
-
-
Raychaudhuri, S.1
Remmers, E.F.2
Lee, A.T.3
Hackett, R.4
Guiducci, C.5
Burtt, N.P.6
-
179
-
-
0031018819
-
Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus
-
Vafiadis P., Bennett S.T., Todd J.A., Nadeau J., Grabs R., Goodyer C.G., et al. Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus. Nat Genet 15 (1997) 289-292
-
(1997)
Nat Genet
, vol.15
, pp. 289-292
-
-
Vafiadis, P.1
Bennett, S.T.2
Todd, J.A.3
Nadeau, J.4
Grabs, R.5
Goodyer, C.G.6
-
180
-
-
18244421874
-
The insulin gene is transcribed in the human thymus and transcription levels correlated with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes
-
Pugliese A., Zeller M., Fernandez Jr. A., Zalcberg L.J., Bartlett R.J., Ricordi C., et al. The insulin gene is transcribed in the human thymus and transcription levels correlated with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes. Nat Genet 15 (1997) 293-297
-
(1997)
Nat Genet
, vol.15
, pp. 293-297
-
-
Pugliese, A.1
Zeller, M.2
Fernandez Jr., A.3
Zalcberg, L.J.4
Bartlett, R.J.5
Ricordi, C.6
-
181
-
-
0020038580
-
An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy
-
Powell B.R., Buist N.R., and Stenzel P. An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy. J Pediatr 100 (1982) 731-737
-
(1982)
J Pediatr
, vol.100
, pp. 731-737
-
-
Powell, B.R.1
Buist, N.R.2
Stenzel, P.3
-
182
-
-
0034526617
-
JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome
-
Chatila T.A., Blaeser F., Ho N., Lederman H.M., Voulgaropoulos C., Helms C., et al. JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome. J Clin Invest 106 (2000) R75-R81
-
(2000)
J Clin Invest
, vol.106
-
-
Chatila, T.A.1
Blaeser, F.2
Ho, N.3
Lederman, H.M.4
Voulgaropoulos, C.5
Helms, C.6
-
184
-
-
0036796668
-
Clinical findings leading to the diagnosis of X-linked agammaglobulinemia
-
Conley M.E., and Howard V. Clinical findings leading to the diagnosis of X-linked agammaglobulinemia. J Pediatr 141 (2002) 566-571
-
(2002)
J Pediatr
, vol.141
, pp. 566-571
-
-
Conley, M.E.1
Howard, V.2
-
185
-
-
0030702854
-
Clinical spectrum of X-linked hyper-IgM syndrome
-
Levy J., Espanol-Boren T., Thomas C., Fischer A., Tovo P., Bordigoni P., et al. Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr 131 (1997) 47-54
-
(1997)
J Pediatr
, vol.131
, pp. 47-54
-
-
Levy, J.1
Espanol-Boren, T.2
Thomas, C.3
Fischer, A.4
Tovo, P.5
Bordigoni, P.6
-
186
-
-
0033658369
-
A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)
-
Zonana J., Elder M.E., Schneider L.C., Orlow S.J., Moss C., Golabi M., et al. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am J Hum Genet 67 (2000) 1555-1562
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1555-1562
-
-
Zonana, J.1
Elder, M.E.2
Schneider, L.C.3
Orlow, S.J.4
Moss, C.5
Golabi, M.6
-
187
-
-
33847684242
-
Cutaneous and other lupus-like symptoms in carriers of X-linked chronic granulomatous disease: incidence and autoimmune serology
-
Cale C.M., Morton L., and Goldblatt D. Cutaneous and other lupus-like symptoms in carriers of X-linked chronic granulomatous disease: incidence and autoimmune serology. Clin Exp Immunol 148 (2007) 79-84
-
(2007)
Clin Exp Immunol
, vol.148
, pp. 79-84
-
-
Cale, C.M.1
Morton, L.2
Goldblatt, D.3
-
188
-
-
0035755595
-
Cellular and molecular pathogenesis of X-linked lymphoproliferative disease
-
Moretta A., Bottino C., Parolini S., Moretta L., Biassoni R., and Notarangelo L.D. Cellular and molecular pathogenesis of X-linked lymphoproliferative disease. Curr Opin Allergy Clin Immunol 1 (2001) 513-517
-
(2001)
Curr Opin Allergy Clin Immunol
, vol.1
, pp. 513-517
-
-
Moretta, A.1
Bottino, C.2
Parolini, S.3
Moretta, L.4
Biassoni, R.5
Notarangelo, L.D.6
|