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Page 1
HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis.
Ombrello MJ, Remmers EF, Tachmazidou I, Grom A, Foell D, Haas JP, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Mellins ED, Ilowite NT, Russo R, Len C, Hilario MO, Oliveira S, Yeung RS, Rosenberg A, Wedderburn LR, Anton J, Schwarz T, Hinks A, Bilginer Y, Park J, Cobb J, Satorius CL, Han B, Baskin E, Signa S, Duerr RH, Achkar JP, Kamboh MI, Kaufman KM, Kottyan LC, Pinto D, Scherer SW, Alarcón-Riquelme ME, Docampo E, Estivill X, Gül A; British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study Group; Childhood Arthritis Prospective Study (CAPS) Group; Randomized Placebo Phase Study of Rilonacept in sJIA (RAPPORT) Investigators; Sparks-Childhood Arthritis Response to Medication Study (CHARMS) Group; Biologically Based Outcome Predictors in JIA (BBOP) Group; de Bakker PI, Raychaudhuri S, Langefeld CD, Thompson S, Zeggini E, Thomson W, Kastner DL, Woo P; International Childhood Arthritis Genetics (INCHARGE) Consortium. Ombrello MJ, et al. Among authors: kaufman km. Proc Natl Acad Sci U S A. 2015 Dec 29;112(52):15970-5. doi: 10.1073/pnas.1520779112. Epub 2015 Nov 23. Proc Natl Acad Sci U S A. 2015. PMID: 26598658 Free PMC article.
Unraveling the genetics of systemic lupus erythematosus.
Harley JB, Kelly JA, Kaufman KM. Harley JB, et al. Among authors: kaufman km. Springer Semin Immunopathol. 2006 Oct;28(2):119-30. doi: 10.1007/s00281-006-0040-5. Epub 2006 Sep 22. Springer Semin Immunopathol. 2006. PMID: 17021721 Review.
Genetic variation in the CRP promoter: association with systemic lupus erythematosus.
Edberg JC, Wu J, Langefeld CD, Brown EE, Marion MC, McGwin G Jr, Petri M, Ramsey-Goldman R, Reveille JD, Frank SG, Kaufman KM, Harley JB, Alarcón GS, Kimberly RP. Edberg JC, et al. Among authors: kaufman km. Hum Mol Genet. 2008 Apr 15;17(8):1147-55. doi: 10.1093/hmg/ddn004. Epub 2008 Jan 8. Hum Mol Genet. 2008. PMID: 18182444
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.
International Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN); Harley JB, Alarcón-Riquelme ME, Criswell LA, Jacob CO, Kimberly RP, Moser KL, Tsao BP, Vyse TJ, Langefeld CD, Nath SK, Guthridge JM, Cobb BL, Mirel DB, Marion MC, Williams AH, Divers J, Wang W, Frank SG, Namjou B, Gabriel SB, Lee AT, Gregersen PK, Behrens TW, Taylor KE, Fernando M, Zidovetzki R, Gaffney PM, Edberg JC, Rioux JD, Ojwang JO, James JA, Merrill JT, Gilkeson GS, Seldin MF, Yin H, Baechler EC, Li QZ, Wakeland EK, Bruner GR, Kaufman KM, Kelly JA. International Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN), et al. Among authors: kaufman km. Nat Genet. 2008 Feb;40(2):204-10. doi: 10.1038/ng.81. Epub 2008 Jan 20. Nat Genet. 2008. PMID: 18204446 Free PMC article.
A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus.
Nath SK, Han S, Kim-Howard X, Kelly JA, Viswanathan P, Gilkeson GS, Chen W, Zhu C, McEver RP, Kimberly RP, Alarcón-Riquelme ME, Vyse TJ, Li QZ, Wakeland EK, Merrill JT, James JA, Kaufman KM, Guthridge JM, Harley JB. Nath SK, et al. Among authors: kaufman km. Nat Genet. 2008 Feb;40(2):152-4. doi: 10.1038/ng.71. Epub 2008 Jan 20. Nat Genet. 2008. PMID: 18204448
Interferon regulatory factor-5 is genetically associated with systemic lupus erythematosus in African Americans.
Kelly JA, Kelley JM, Kaufman KM, Kilpatrick J, Bruner GR, Merrill JT, James JA, Frank SG, Reams E, Brown EE, Gibson AW, Marion MC, Langefeld CD, Li QZ, Karp DR, Wakeland EK, Petri M, Ramsey-Goldman R, Reveille JD, Vilá LM, Alarcón GS, Kimberly RP, Harley JB, Edberg JC. Kelly JA, et al. Among authors: kaufman km. Genes Immun. 2008 Apr;9(3):187-94. doi: 10.1038/gene.2008.4. Epub 2008 Feb 21. Genes Immun. 2008. PMID: 18288123
Common variants within MECP2 confer risk of systemic lupus erythematosus.
Sawalha AH, Webb R, Han S, Kelly JA, Kaufman KM, Kimberly RP, Alarcón-Riquelme ME, James JA, Vyse TJ, Gilkeson GS, Choi CB, Scofield RH, Bae SC, Nath SK, Harley JB. Sawalha AH, et al. Among authors: kaufman km. PLoS One. 2008 Mar 5;3(3):e1727. doi: 10.1371/journal.pone.0001727. PLoS One. 2008. PMID: 18320046 Free PMC article.
Evaluation of imputation-based association in and around the integrin-alpha-M (ITGAM) gene and replication of robust association between a non-synonymous functional variant within ITGAM and systemic lupus erythematosus (SLE).
Han S, Kim-Howard X, Deshmukh H, Kamatani Y, Viswanathan P, Guthridge JM, Thomas K, Kaufman KM, Ojwang J, Rojas-Villarraga A, Baca V, Orozco L, Rhodes B, Choi CB, Gregersen PK, Merrill JT, James JA, Gaffney PM, Moser KL, Jacob CO, Kimberly RP, Harley JB, Bae SC, Anaya JM, Alarcón-Riquelme ME, Matsuda K, Vyse TJ, Nath SK. Han S, et al. Among authors: kaufman km. Hum Mol Genet. 2009 Mar 15;18(6):1171-80. doi: 10.1093/hmg/ddp007. Epub 2009 Jan 6. Hum Mol Genet. 2009. PMID: 19129174 Free PMC article.
Identification of IRAK1 as a risk gene with critical role in the pathogenesis of systemic lupus erythematosus.
Jacob CO, Zhu J, Armstrong DL, Yan M, Han J, Zhou XJ, Thomas JA, Reiff A, Myones BL, Ojwang JO, Kaufman KM, Klein-Gitelman M, McCurdy D, Wagner-Weiner L, Silverman E, Ziegler J, Kelly JA, Merrill JT, Harley JB, Ramsey-Goldman R, Vila LM, Bae SC, Vyse TJ, Gilkeson GS, Gaffney PM, Moser KL, Langefeld CD, Zidovetzki R, Mohan C. Jacob CO, et al. Among authors: kaufman km. Proc Natl Acad Sci U S A. 2009 Apr 14;106(15):6256-61. doi: 10.1073/pnas.0901181106. Epub 2009 Mar 27. Proc Natl Acad Sci U S A. 2009. PMID: 19329491 Free PMC article.
148 results