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Genetic variants at the 16p13 locus confer risk for eosinophilic esophagitis.
Kottyan LC, Maddox A, Braxton JR, Stucke EM, Mukkada V, Putnam PE, Abonia JP, Chehade M, Wood RA, Pesek RD, Vickery BP, Furuta GT, Dawson P, Sampson HA, Martin LJ, Kelly JA, Kimberly RP, Sivils K, Gaffney PM, Kaufman K, Harley JB, Rothenberg ME. Kottyan LC, et al. Genes Immun. 2019 Apr;20(4):281-292. doi: 10.1038/s41435-018-0034-z. Epub 2018 Jun 8. Genes Immun. 2019. PMID: 29904099 Free PMC article.
Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.
Kottyan LC, Davis BP, Sherrill JD, Liu K, Rochman M, Kaufman K, Weirauch MT, Vaughn S, Lazaro S, Rupert AM, Kohram M, Stucke EM, Kemme KA, Magnusen A, He H, Dexheimer P, Chehade M, Wood RA, Pesek RD, Vickery BP, Fleischer DM, Lindbad R, Sampson HA, Mukkada VA, Putnam PE, Abonia JP, Martin LJ, Harley JB, Rothenberg ME. Kottyan LC, et al. Nat Genet. 2014 Aug;46(8):895-900. doi: 10.1038/ng.3033. Epub 2014 Jul 13. Nat Genet. 2014. PMID: 25017104 Free PMC article.
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.
Association of common variants in the human eyes shut ortholog (EYS) with statin-induced myopathy: evidence for additional functions of EYS.
Isackson PJ, Ochs-Balcom HM, Ma C, Harley JB, Peltier W, Tarnopolsky M, Sripathi N, Wortmann RL, Simmons Z, Wilson JD, Smith SA, Barboi A, Fine E, Baer A, Baker S, Kaufman K, Cobb B, Kilpatrick JR, Vladutiu GD. Isackson PJ, et al. Muscle Nerve. 2011 Oct;44(4):531-8. doi: 10.1002/mus.22115. Epub 2011 Aug 8. Muscle Nerve. 2011. PMID: 21826682 Free PMC article.
Complete Tracheal Ring Deformity. A Translational Genomics Approach to Pathogenesis.
Sinner DI, Carey B, Zgherea D, Kaufman KM, Leesman L, Wood RE, Rutter MJ, de Alarcon A, Elluru RG, Harley JB, Whitsett JA, Trapnell BC. Sinner DI, et al. Among authors: kaufman km. Am J Respir Crit Care Med. 2019 Nov 15;200(10):1267-1281. doi: 10.1164/rccm.201809-1626OC. Am J Respir Crit Care Med. 2019. PMID: 31215789 Free PMC article.
183 results