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1
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0034758045
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Genomewide scans of complex human diseases: True linkage is hard to find
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Altmuller J., Palmer L.J., Fischer G., Scherb H., Wjst M. Genomewide scans of complex human diseases: true linkage is hard to find. Am J Hum Genet. 69:2001;936-950. A meta-analysis of genome scans, highlighting the importance of large datasets and reduced genetic heterogeneity in successfully mapping genes in complex traits.
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(2001)
Am J Hum Genet
, vol.69
, pp. 936-950
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Altmuller, J.1
Palmer, L.J.2
Fischer, G.3
Scherb, H.4
Wjst, M.5
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2
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0034821661
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Seven regions of the genome show evidence of linkage to type 1 diabetes in a consensus analysis of 767 multiplex families
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Cox N.J., Wapelhorst B., Morrison V.A., Johnson L., Pinchuk L., Spielman R.S., Todd J.A., Concannon P. Seven regions of the genome show evidence of linkage to type 1 diabetes in a consensus analysis of 767 multiplex families. Am J Hum Genet. 69:2001;820-830. The largest genome scan reported thus far for T1D. Increased sample size is able to reveal a locus of hitherto weak effect, with the trade-off that loci defined previously within the same families were 'lost' when tested separately. Were these loci really false positives or is increased genetic/environmental heterogeneity to blame?
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(2001)
Am J Hum Genet
, vol.69
, pp. 820-830
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Cox, N.J.1
Wapelhorst, B.2
Morrison, V.A.3
Johnson, L.4
Pinchuk, L.5
Spielman, R.S.6
Todd, J.A.7
Concannon, P.8
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3
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0035212224
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A genomewide scan for type 1-diabetes susceptibility in Scandinavian families: Identification of new loci with evidence of interactions
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Nerup J., Pociot F. A genomewide scan for type 1-diabetes susceptibility in Scandinavian families: identification of new loci with evidence of interactions. Am J Hum Genet. 69:2001;1301-1313. This is an important report of a T1D genome scan on a relatively homogeneous dataset. Highlighting the challenge of finding genes involved in complex traits, the loci that were reported from other scans (including IDDM2/INS) were not found in these Scandinavian families, but new loci were revealed.
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(2001)
Am J Hum Genet
, vol.69
, pp. 1301-1313
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Nerup, J.1
Pociot, F.2
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4
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0035132568
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Linkage disequilibrium of a type 1 diabetes susceptibility locus with a regulatory IL12B allele
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Morahan G., Huang D., Ymer S.I., Cancilla M.R., Stephen K., Dabadghao P., Werther G., Tait B.D., Harrison L.C., Colman P.G. Linkage disequilibrium of a type 1 diabetes susceptibility locus with a regulatory IL12B allele. Nat Genet. 27:2001;218-221. This paper reports mapping of a new T1D locus (IDDM18) and shows that polymorphisms in the IL12B gene, a strong candidate within the region, shows strong association with disease susceptibility in two independent sets of families. Cell lines of different genotypes showed different IL12B expression levels.
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(2001)
Nat Genet
, vol.27
, pp. 218-221
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Morahan, G.1
Huang, D.2
Ymer, S.I.3
Cancilla, M.R.4
Stephen, K.5
Dabadghao, P.6
Werther, G.7
Tait, B.D.8
Harrison, L.C.9
Colman, P.G.10
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5
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0031943618
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The interleukin-12/interleukin-12-receptor system: Role in normal and pathologic immune responses
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Gately M.K., Renzetti L.M., Magram J., Stern A.S., Adorini L., Gubler U., Presky D.H. The interleukin-12/interleukin-12-receptor system: role in normal and pathologic immune responses. Annu Rev Immunol. 16:1998;495-521.
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Annu Rev Immunol
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Gately, M.K.1
Renzetti, L.M.2
Magram, J.3
Stern, A.S.4
Adorini, L.5
Gubler, U.6
Presky, D.H.7
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6
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0036137987
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Understanding autoimmune diabetes: Insights from mouse models
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Adorini L., Gregori S., Harrison L.C. Understanding autoimmune diabetes: insights from mouse models. Trends in Molecular Medicine. 8:2002;31-38. An excellent review of the pathogenesis of T1D arising from the use of NOD and other mouse models.
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(2002)
Trends in Molecular Medicine
, vol.8
, pp. 31-38
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Adorini, L.1
Gregori, S.2
Harrison, L.C.3
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7
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0034564291
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Complete primary structure, chromosomal localisation, and definition of polymorphisms of the gene encoding the human interleukin-12 p40 subunit
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Huang D., Cancilla M.R., Morahan G. Complete primary structure, chromosomal localisation, and definition of polymorphisms of the gene encoding the human interleukin-12 p40 subunit. Genes Immun. 1:2000;515-520.
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(2000)
Genes Immun
, vol.1
, pp. 515-520
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Huang, D.1
Cancilla, M.R.2
Morahan, G.3
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8
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27844504776
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Linkage disequilibrium of an interleukin-12 polymorphism (IDDM18) in Danish Type 1 diabetes families
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Bergholdt R., Morahan G., Johannesen J. Linkage disequilibrium of an interleukin-12 polymorphism (IDDM18) in Danish Type 1 diabetes families. Diabetologia. 44:(Suppl):2002;202.
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(2002)
Diabetologia
, vol.44
, Issue.SUPPL.
, pp. 202
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Bergholdt, R.1
Morahan, G.2
Johannesen, J.3
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9
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0036300711
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IL-12p40 Is associated with type 1 diabetes in caucasian-american families
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Davoodi-Semiromi A., Yang J.J., She J.X. IL-12p40 Is associated with type 1 diabetes in caucasian-american families. Diabetes. 51:2002;2334-2336. This study shows confirmation of a role for IL12B in T1D. In contrast to [4••], a different polymorphism was found to be associated with susceptibility, which suggests that the true causative polymorphism in/near this gene remains to be found. These authors also showed variation in IL12B gene expression, according to IL12B genotype, in non-transformed cells.
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(2002)
Diabetes
, vol.51
, pp. 2334-2336
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Davoodi-Semiromi, A.1
Yang, J.J.2
She, J.X.3
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10
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0034903707
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Interleukin-12p40 genotype plays a role in the susceptibility to multiple sclerosis
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van Veen T., Crusius J.B., Schrijver H.M., Bouma G., Killestein J., van Winsen L., Salvador Pena A., Polman C.H., Uitdehaag B.M. Interleukin-12p40 genotype plays a role in the susceptibility to multiple sclerosis. Ann Neurol. 50:2001;275.
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(2001)
Ann Neurol
, vol.50
, pp. 275
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Van Veen, T.1
Crusius, J.B.2
Schrijver, H.M.3
Bouma, G.4
Killestein, J.5
Van Winsen, L.6
Salvador Pena, A.7
Polman, C.H.8
Uitdehaag, B.M.9
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11
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19044393055
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A promoter polymorphism in the gene encoding interleukin-12 p40 (IL12B) is associated with mortality from cerebral malaria and with reduced nitric oxide production
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in press
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Morahan G, Boutlis CB, Huang D, Pain A, Saunders JR, Hobbs MR, Granger DL, Weinberg JB, Peshu N, Mwaikambo ED et al.: A promoter polymorphism in the gene encoding interleukin-12 p40 (IL12B) is associated with mortality from cerebral malaria and with reduced nitric oxide production. Genes and Immunity 2002, in press. This paper extends the influence of IL12B to another polymorphism and another disease. A polymorphism in the IL12B promoter was shown to be associated with death from cerebral malaria in Tanzanian children.
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(2002)
Genes and Immunity
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Morahan, G.1
Boutlis, C.B.2
Huang, D.3
Pain, A.4
Saunders, J.R.5
Hobbs, M.R.6
Granger, D.L.7
Weinberg, J.B.8
Peshu, N.9
Mwaikambo, E.D.10
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12
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0037131211
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Polymorphisms in cytokine genes may define sub-populations of HIV-1 Patients who are susceptible to particular Immune Restoration Diseases when they begin anti-retroviral therapy
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in press
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Price P, Morahan G, Huang D, Stone E, Cheong KYM, Castley A, Rodgers M, Abraham L, Jones M, French MA: Polymorphisms in cytokine genes may define sub-populations of HIV-1 Patients who are susceptible to particular Immune Restoration Diseases when they begin anti-retroviral therapy. AIDS 2002, in press. Another disease associated with IL12B polymorphisms.
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(2002)
AIDS
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Price, P.1
Morahan, G.2
Huang, D.3
Stone, E.4
Cheong, K.Y.M.5
Castley, A.6
Jodgers, M.7
Abraham, L.8
Jones, M.9
French, M.A.10
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13
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0036560003
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Polymorphisms in the Il12b gene affect structure and expression of IL- 12 in NOD and other autoimmune-prone mouse strains
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Ymer S.I., Huang D., Penna G., Gregori S., Branson K., Adorini L., Morahan G. Polymorphisms in the Il12b gene affect structure and expression of IL- 12 in NOD and other autoimmune-prone mouse strains. Genes Immun. 3:2002;151-157. Alleles and haplotypes of the mouse Il12b gene were defined, and these were also found to be associated with differences in gene expression. In contrast to the human orthologue, mouse Il12b has alleles that have amino acid substitutions, one of which defines an antibody-binding site and was illustrated on a three dimensional model.
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(2002)
Genes Immun
, vol.3
, pp. 151-157
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Ymer, S.I.1
Huang, D.2
Penna, G.3
Gregori, S.4
Branson, K.5
Adorini, L.6
Morahan, G.7
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15
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0034891347
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Class III alleles of the variable number of tandem repeat insulin polymorphism associated with silencing of thymic insulin predispose to type 1 diabetes
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Vafiadis P., Ounissi-Benkalha H., Palumbo M., Grabs R., Rousseau M., Goodyer C.G., Polychronakos C. Class III alleles of the variable number of tandem repeat insulin polymorphism associated with silencing of thymic insulin predispose to type 1 diabetes. J Clin Endocrinol Metab. 86:2001;3705-3710. Further evidence that the INS/IDDM2 effect is mediated through differential thymic expression.
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(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 3705-3710
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Vafiadis, P.1
Ounissi-Benkalha, H.2
Palumbo, M.3
Grabs, R.4
Rousseau, M.5
Goodyer, C.G.6
Polychronakos, C.7
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16
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0036315824
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Insulin expression levels in the thymus modulate insulin-specific autoreactive T-cell tolerance: The mechanism by which the IDDM2 locus may predispose to diabetes
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Chentoufi A.A., Polychronakos C. Insulin expression levels in the thymus modulate insulin-specific autoreactive T-cell tolerance: the mechanism by which the IDDM2 locus may predispose to diabetes. Diabetes. 51:2002;1383-1390.
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(2002)
Diabetes
, vol.51
, pp. 1383-1390
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Chentoufi, A.A.1
Polychronakos, C.2
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17
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0034139830
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CTLA-4 in autoimmune diseases-a general susceptibility gene to autoimmunity?
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Kristiansen O.P., Larsen Z.M., Pociot F. CTLA-4 in autoimmune diseases-a general susceptibility gene to autoimmunity? Genes Immun. 1:2000;170-184.
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(2000)
Genes Immun
, vol.1
, pp. 170-184
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Kristiansen, O.P.1
Larsen, Z.M.2
Pociot, F.3
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18
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0035029986
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CTLA-4 and not CD28 is a susceptibility gene for thyroid autoantibody production
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Tomer Y., Greenberg D.A., Barbesino G., Concepcion E., Davies T.F. CTLA-4 and not CD28 is a susceptibility gene for thyroid autoantibody production. J Clin Endocrinol Metab. 86:2001;1687-1693.
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(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 1687-1693
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Tomer, Y.1
Greenberg, D.A.2
Barbesino, G.3
Concepcion, E.4
Davies, T.F.5
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19
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0034548720
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CTLA-4 gene polymorphism at position 49 in exon 1 reduces the inhibitory function of CTLA-4 and contributes to the pathogenesis of Graves' disease
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Kouki T., Sawai Y., Gardine C.A., Fisfalen M.E., Alegre M.L., DeGroot L.J. CTLA-4 gene polymorphism at position 49 in exon 1 reduces the inhibitory function of CTLA-4 and contributes to the pathogenesis of Graves' disease. J Immunol. 165:2000;6606-6611.
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(2000)
J Immunol
, vol.165
, pp. 6606-6611
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Kouki, T.1
Sawai, Y.2
Gardine, C.A.3
Fisfalen, M.E.4
Alegre, M.L.5
DeGroot, L.J.6
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20
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0034212144
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Dinucleotide repeat expansion in the CTLA-4 gene leads to T cell hyper- reactivity via the CD28 pathway in myasthenia gravis
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Huang D., Giscombe R., Zhou Y., Pirskanen R., Lefvert A.K. Dinucleotide repeat expansion in the CTLA-4 gene leads to T cell hyper- reactivity via the CD28 pathway in myasthenia gravis. J Neuroimmunol. 105:2000;69-77.
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(2000)
J Neuroimmunol
, vol.105
, pp. 69-77
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Huang, D.1
Giscombe, R.2
Zhou, Y.3
Pirskanen, R.4
Lefvert, A.K.5
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21
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0035451084
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Technical note: Linkage disequilibrium and disease-associated CTLA4 gene polymorphisms
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Holopainen P.M., Partanen J.A. Technical note: linkage disequilibrium and disease-associated CTLA4 gene polymorphisms. J Immunol. 167:2001;2457-2458.
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(2001)
J Immunol
, vol.167
, pp. 2457-2458
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Holopainen, P.M.1
Partanen, J.A.2
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22
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0036319041
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Genetic effects on age-dependent onset and islet cell autoantibody markers in type 1 diabetes
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Graham J., Hagopian W.A., Kockum I., Li L.S., Sanjeevi C.B., Lowe R.M., Schaefer J.B., Zarghami M., Day H.L., Landin-Olsson M., et al. Genetic effects on age-dependent onset and islet cell autoantibody markers in type 1 diabetes. Diabetes. 51:2002;1346-1355. A systematic comparison of the effects of genotypes at the three best associated T1D susceptibility genes (HLA, INS, CTLA4) on progression through islet autoimmunity to T1D. This type of analysis will provide the data for future estimates of risk based on risk factors such as age, genotype and gender.
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(2002)
Diabetes
, vol.51
, pp. 1346-1355
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Graham, J.1
Hagopian, W.A.2
Kockum, I.3
Li, L.S.4
Sanjeevi, C.B.5
Lowe, R.M.6
Schaefer, J.B.7
Zarghami, M.8
Day, H.L.9
Landin-Olsson, M.10
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23
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0035978651
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Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease
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Hugot J.P., Chamaillard M., Zouali H., Lesage S., Cezard J.P., Belaiche J., Almer S., Tysk C., O'Morain C.A., Gassull M., et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature. 411:2001;599-603. Identification of a positional candidate gene involved in Crohn's disease susceptibility.
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(2001)
Nature
, vol.411
, pp. 599-603
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Hugot, J.P.1
Chamaillard, M.2
Zouali, H.3
Lesage, S.4
Cezard, J.P.5
Belaiche, J.6
Almer, S.7
Tysk, C.8
O'Morain, C.A.9
Gassull, M.10
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24
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0035978533
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A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease
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Ogura Y., Bonen D.K., Inohara N., Nicolae D.L., Chen F.F., Ramos R., Britton H., Moran T., Karaliuskas R., Duerr R.H., et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature. 411:2001;603-606. Identification of a positional candidate gene involved in Crohn's disease susceptibility.
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(2001)
Nature
, vol.411
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Ogura, Y.1
Bonen, D.K.2
Inohara, N.3
Nicolae, D.L.4
Chen, F.F.5
Ramos, R.6
Britton, H.7
Moran, T.8
Karaliuskas, R.9
Duerr, R.H.10
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25
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0035555022
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The genetics of complex autoimmune diseases: Non-MHC susceptibility genes
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Wanstrat A., Wakeland E. The genetics of complex autoimmune diseases: non-MHC susceptibility genes. Nature Immunology. 2:2001;802-809. An excellent review of murine models of autoimmunity.
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(2001)
Nature Immunology
, vol.2
, pp. 802-809
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Wanstrat, A.1
Wakeland, E.2
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26
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0035852650
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The major murine systemic lupus erythematosus susceptibility locus, Sle1, is a cluster of functionally related genes
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Morel L., Blenman K.R., Croker B.P., Wakeland E.K. The major murine systemic lupus erythematosus susceptibility locus, Sle1, is a cluster of functionally related genes. Proc Natl Acad Sci USA. 98:2001;1787-1792.
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(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 1787-1792
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Morel, L.1
Blenman, K.R.2
Croker, B.P.3
Wakeland, E.K.4
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27
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0032822393
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A gene telomeric of the HLA class I region is involved in predisposition to both type 1 diabetes and coeliac disease
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Lie B.A., Sollid L.M., Ascher H., Ek J., Akselsen H.E., Ronningen K.S., Thorsby E., Undlien D.E. A gene telomeric of the HLA class I region is involved in predisposition to both type 1 diabetes and coeliac disease. Tissue Antigens. 54:1999;162-168.
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Tissue Antigens
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, pp. 162-168
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Lie, B.A.1
Sollid, L.M.2
Ascher, H.3
Ek, J.4
Akselsen, H.E.5
Ronningen, K.S.6
Thorsby, E.7
Undlien, D.E.8
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28
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0032697536
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Association analysis using refined microsatellite markers localizes a susceptibility locus for psoriasis vulgaris within a 111 kb segment telomeric to the HLA-C gene
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Oka A., Tamiya G., Tomizawa M., Ota M., Katsuyama Y., Makino S., Shiina T., Yoshitome M., Iizuka M., Sasao Y., et al. Association analysis using refined microsatellite markers localizes a susceptibility locus for psoriasis vulgaris within a 111 kb segment telomeric to the HLA-C gene. Hum Mol Genet. 8:1999;2165-2170.
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Hum Mol Genet
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Oka, A.1
Tamiya, G.2
Tomizawa, M.3
Ota, M.4
Katsuyama, Y.5
Makino, S.6
Shiina, T.7
Yoshitome, M.8
Iizuka, M.9
Sasao, Y.10
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29
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0035208688
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Localization of central MHC genes influencing type I diabetes
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Cheong K.Y., Allcock R.J., Eerligh P., Witt C.S., Christiansen F.T., McCann V., Price P. Localization of central MHC genes influencing type I diabetes. Hum Immunol. 62:2001;1363-1370.
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(2001)
Hum Immunol
, vol.62
, pp. 1363-1370
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Cheong, K.Y.1
Allcock, R.J.2
Eerligh, P.3
Witt, C.S.4
Christiansen, F.T.5
McCann, V.6
Price, P.7
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30
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0035311823
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Conditional linkage disequilibrium analysis of a complex disease superlocus, IDDM1 in the HLA region, reveals the presence of independent modifying gene effects influencing the type 1 diabetes risk encoded by the major HLA-DQB1, -DRB1 disease loci
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Zavattari P., Lampis R., Motzo C., Loddo M., Mulargia A., Whalen M., Maioli M., Angius E., Todd J.A., Cucca F. Conditional linkage disequilibrium analysis of a complex disease superlocus, IDDM1 in the HLA region, reveals the presence of independent modifying gene effects influencing the type 1 diabetes risk encoded by the major HLA-DQB1, -DRB1 disease loci. Hum Mol Genet. 10:2001;881-889.
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(2001)
Hum Mol Genet
, vol.10
, pp. 881-889
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Zavattari, P.1
Lampis, R.2
Motzo, C.3
Loddo, M.4
Mulargia, A.5
Whalen, M.6
Maioli, M.7
Angius, E.8
Todd, J.A.9
Cucca, F.10
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31
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0034885991
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Two distinct MICA gene markers discriminate major autoimmune diabetes types
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Gambelunghe G., Ghaderi M., Tortoioli C., Falorni A., Santeusanio F., Brunetti P., Sanjeevi C.B. Two distinct MICA gene markers discriminate major autoimmune diabetes types. J Clin Endocrinol Metab. 86:2001;3754-3760.
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(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 3754-3760
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Gambelunghe, G.1
Ghaderi, M.2
Tortoioli, C.3
Falorni, A.4
Santeusanio, F.5
Brunetti, P.6
Sanjeevi, C.B.7
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32
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0036303622
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An interval tightly linked to but distinct from the h2 complex controls both overt diabetes (idd16) and chronic experimental autoimmune thyroiditis (ceat1) in nonobese diabetic mice
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Boulard O., Damotte D., Deruytter N., Fluteau G., Carnaud C., Garchon H.J. An interval tightly linked to but distinct from the h2 complex controls both overt diabetes (idd16) and chronic experimental autoimmune thyroiditis (ceat1) in nonobese diabetic mice. Diabetes. 51:2002;2141-2147.
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Diabetes
, vol.51
, pp. 2141-2147
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Boulard, O.1
Damotte, D.2
Deruytter, N.3
Fluteau, G.4
Carnaud, C.5
Garchon, H.J.6
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33
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15844421728
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Markers on distal chromosome 2q linked to insulin-dependent diabetes mellitus
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Morahan G., Huang D., Tait B.D., Colman P.G., Harrison L.C. Markers on distal chromosome 2q linked to insulin-dependent diabetes mellitus. Science. 272:1996;1181-1183.
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(1996)
Science
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Morahan, G.1
Huang, D.2
Tait, B.D.3
Colman, P.G.4
Harrison, L.C.5
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34
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0035152589
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Suggestive evidence for association of human chromosome 18q12-q21 and its orthologue on rat and mouse chromosome 18 with several autoimmune diseases
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Merriman T.R., Cordell H.J., Eaves I.A., Danoy P.A., Coraddu F., Barber R., Cucca F., Broadley S., Sawcer S., Compston A., et al. Suggestive evidence for association of human chromosome 18q12-q21 and its orthologue on rat and mouse chromosome 18 with several autoimmune diseases. Diabetes. 50:2001;184-194. A good example of how genetic information acquired in multiple diseases and species can be used. By pooling data from several diseases the authors were able to show that a single locus, with an initial relatively weak effect in each system, contributes to multiple autoimmune diseases.
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(2001)
Diabetes
, vol.50
, pp. 184-194
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Merriman, T.R.1
Cordell, H.J.2
Eaves, I.A.3
Danoy, P.A.4
Coraddu, F.5
Barber, R.6
Cucca, F.7
Broadley, S.8
Sawcer, S.9
Compston, A.10
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35
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0034972816
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Genetic control of collagen-induced arthritis in a cross with NOD and C57BL/10 mice is dependent on gene regions encoding complement factor 5 and FcgammaRIIb and is not associated with loci controlling diabetes
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Johansson A.C., Sundler M., Kjellen P., Johannesson M., Cook A., Lindqvist A.K., Nakken B., Bolstad A.I., Jonsson R., Alarcon-Riquelme M., et al. Genetic control of collagen-induced arthritis in a cross with NOD and C57BL/10 mice is dependent on gene regions encoding complement factor 5 and FcgammaRIIb and is not associated with loci controlling diabetes. Eur J Immunol. 31:2001;1847-1856.
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(2001)
Eur J Immunol
, vol.31
, pp. 1847-1856
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Johansson, A.C.1
Sundler, M.2
Kjellen, P.3
Johannesson, M.4
Cook, A.5
Lindqvist, A.K.6
Nakken, B.7
Bolstad, A.I.8
Jonsson, R.9
Alarcon-Riquelme, M.10
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36
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0035444186
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High resolution linkage and association mapping identifies a novel rheumatoid arthritis susceptibility locus homologous to one linked to two rat models of inflammatory arthritis
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Barton A., Eyre S., Myerscough A., Brintnell B., Ward D., Ollier W.E., Lorentzen J.C., Klareskog L., Silman A., John S., et al. High resolution linkage and association mapping identifies a novel rheumatoid arthritis susceptibility locus homologous to one linked to two rat models of inflammatory arthritis. Hum Mol Genet. 10:2001;1901-1906.
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Hum Mol Genet
, vol.10
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