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Items: 34

1.

Genetic Influences on Susceptibility to Rheumatoid Arthritis in African-Americans.

Laufer VA, Tiwari HK, Reynolds RJ, Danila MI, Wang J, Edberg JC, Kimberly RP, Kottyan LC, Harley JB, Mikuls TR, Gregersen PK, Absher DM, Langefeld CD, Arnett DK, Louis Bridges S Jr.

Hum Mol Genet. 2018 Nov 13. doi: 10.1093/hmg/ddy395. [Epub ahead of print]

PMID:
30423114
2.

A plausibly causal functional lupus-associated risk variant in the STAT1-STAT4 locus.

Patel Z, Lu X, Miller D, Forney CR, Lee J, Lynch A, Schroeder C, Parks L, Magnusen AF, Chen X, Pujato M, Maddox A, Zoller EE, Namjou B, Brunner HI, Henrickson M, Huggins JL, Williams AH, Ziegler JT, Comeau ME, Marion MC, Glenn SB, Adler A, Shen N, Nath SK, Stevens AM, Freedman BI, Pons-Estel BA, Tsao BP, Jacob CO, Kamen DL, Brown EE, Gilkeson GS, Alarcón GS, Martin J, Reveille JD, Anaya JM, James JA, Sivils KL, Criswell LA, Vilá LM, Petri M, Scofield RH, Kimberly RP, Edberg JC, Ramsey-Goldman R, Bang SY, Lee HS, Bae SC, Boackle SA, Cunninghame Graham D, Vyse TJ, Merrill JT, Niewold TB, Ainsworth HC, Silverman ED, Weisman MH, Wallace DJ, Raj P, Guthridge JM, Gaffney PM, Kelly JA, Alarcón-Riquelme ME, Langefeld CD, Wakeland EK, Kaufman KM, Weirauch MT, Harley JB, Kottyan LC.

Hum Mol Genet. 2018 Apr 18. doi: 10.1093/hmg/ddy140. [Epub ahead of print]

PMID:
29912393
3.

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.

Genes Immun. 2018 Jun 8. doi: 10.1038/s41435-018-0034-z. [Epub ahead of print]

PMID:
29904099
4.

The antiprotease SPINK7 serves as an inhibitory checkpoint for esophageal epithelial inflammatory responses.

Azouz NP, Ynga-Durand MA, Caldwell JM, Jain A, Rochman M, Fischesser DM, Ray LM, Bedard MC, Mingler MK, Forney C, Eilerman M, Kuhl JT, He H, Biagini Myers JM, Mukkada VA, Putnam PE, Khurana Hershey GK, Kottyan LC, Wen T, Martin LJ, Rothenberg ME.

Sci Transl Med. 2018 Jun 6;10(444). pii: eaap9736. doi: 10.1126/scitranslmed.aap9736.

PMID:
29875205
5.

Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis.

Sherrill JD, Kc K, Wang X, Wen T, Chamberlin A, Stucke EM, Collins MH, Abonia JP, Peng Y, Wu Q, Putnam PE, Dexheimer PJ, Aronow BJ, Kottyan LC, Kaufman KM, Harley JB, Huang T, Rothenberg ME.

JCI Insight. 2018 Apr 19;3(8). pii: 99922. doi: 10.1172/jci.insight.99922. [Epub ahead of print]

6.

Transcription factors operate across disease loci, with EBNA2 implicated in autoimmunity.

Harley JB, Chen X, Pujato M, Miller D, Maddox A, Forney C, Magnusen AF, Lynch A, Chetal K, Yukawa M, Barski A, Salomonis N, Kaufman KM, Kottyan LC, Weirauch MT.

Nat Genet. 2018 May;50(5):699-707. doi: 10.1038/s41588-018-0102-3. Epub 2018 Apr 16.

7.

Eosinophilic esophagitis (EoE) genetic susceptibility is mediated by synergistic interactions between EoE-specific and general atopic disease loci.

Martin LJ, He H, Collins MH, Abonia JP, Biagini Myers JM, Eby M, Johansson H, Kottyan LC, Khurana Hershey GK, Rothenberg ME.

J Allergy Clin Immunol. 2018 May;141(5):1690-1698. doi: 10.1016/j.jaci.2017.09.046. Epub 2017 Nov 10.

PMID:
29129581
8.

Genetic Associations with Gestational Duration and Spontaneous Preterm Birth.

Zhang G, Feenstra B, Bacelis J, Liu X, Muglia LM, Juodakis J, Miller DE, Litterman N, Jiang PP, Russell L, Hinds DA, Hu Y, Weirauch MT, Chen X, Chavan AR, Wagner GP, Pavličev M, Nnamani MC, Maziarz J, Karjalainen MK, Rämet M, Sengpiel V, Geller F, Boyd HA, Palotie A, Momany A, Bedell B, Ryckman KK, Huusko JM, Forney CR, Kottyan LC, Hallman M, Teramo K, Nohr EA, Davey Smith G, Melbye M, Jacobsson B, Muglia LJ.

N Engl J Med. 2017 Sep 21;377(12):1156-1167. doi: 10.1056/NEJMoa1612665. Epub 2017 Sep 6.

9.

Transancestral mapping and genetic load in systemic lupus erythematosus.

Langefeld CD, Ainsworth HC, Cunninghame Graham DS, Kelly JA, Comeau ME, Marion MC, Howard TD, Ramos PS, Croker JA, Morris DL, Sandling JK, Almlöf JC, Acevedo-Vásquez EM, Alarcón GS, Babini AM, Baca V, Bengtsson AA, Berbotto GA, Bijl M, Brown EE, Brunner HI, Cardiel MH, Catoggio L, Cervera R, Cucho-Venegas JM, Dahlqvist SR, D'Alfonso S, Da Silva BM, de la Rúa Figueroa I, Doria A, Edberg JC, Endreffy E, Esquivel-Valerio JA, Fortin PR, Freedman BI, Frostegård J, García MA, de la Torre IG, Gilkeson GS, Gladman DD, Gunnarsson I, Guthridge JM, Huggins JL, James JA, Kallenberg CGM, Kamen DL, Karp DR, Kaufman KM, Kottyan LC, Kovács L, Laustrup H, Lauwerys BR, Li QZ, Maradiaga-Ceceña MA, Martín J, McCune JM, McWilliams DR, Merrill JT, Miranda P, Moctezuma JF, Nath SK, Niewold TB, Orozco L, Ortego-Centeno N, Petri M, Pineau CA, Pons-Estel BA, Pope J, Raj P, Ramsey-Goldman R, Reveille JD, Russell LP, Sabio JM, Aguilar-Salinas CA, Scherbarth HR, Scorza R, Seldin MF, Sjöwall C, Svenungsson E, Thompson SD, Toloza SMA, Truedsson L, Tusié-Luna T, Vasconcelos C, Vilá LM, Wallace DJ, Weisman MH, Wither JE, Bhangale T, Oksenberg JR, Rioux JD, Gregersen PK, Syvänen AC, Rönnblom L, Criswell LA, Jacob CO, Sivils KL, Tsao BP, Schanberg LE, Behrens TW, Silverman ED, Alarcón-Riquelme ME, Kimberly RP, Harley JB, Wakeland EK, Graham RR, Gaffney PM, Vyse TJ.

Nat Commun. 2017 Jul 17;8:16021. doi: 10.1038/ncomms16021.

10.

Genetics of eosinophilic esophagitis.

Kottyan LC, Rothenberg ME.

Mucosal Immunol. 2017 May;10(3):580-588. doi: 10.1038/mi.2017.4. Epub 2017 Feb 22. Review.

11.

Calpain-14 and its association with eosinophilic esophagitis.

Litosh VA, Rochman M, Rymer JK, Porollo A, Kottyan LC, Rothenberg ME.

J Allergy Clin Immunol. 2017 Jun;139(6):1762-1771.e7. doi: 10.1016/j.jaci.2016.09.027. Epub 2017 Jan 25. Review.

12.

Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications.

Ombrello MJ, Arthur VL, Remmers EF, Hinks A, Tachmazidou I, Grom AA, Foell D, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Ilowite NT, Mellins ED, Russo R, Len C, Hilario MO, Oliveira S, Yeung RS, Rosenberg AM, Wedderburn LR, Anton J, Haas JP, Rosen-Wolff A, Minden K, Tenbrock K, Demirkaya E, Cobb J, Baskin E, Signa S, Shuldiner E, 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, Inception Cohort of Newly Diagnosed Patients with Juvenile Idiopathic Arthritis (ICON-JIA) 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, Langefeld CD, Thompson S, Zeggini E, Kastner DL, Woo P, Thomson W.

Ann Rheum Dis. 2017 May;76(5):906-913. doi: 10.1136/annrheumdis-2016-210324. Epub 2016 Dec 7.

13.

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA).

Miller DE, Patel ZH, Lu X, Lynch AT, Weirauch MT, Kottyan LC.

J Vis Exp. 2016 Aug 21;(114). doi: 10.3791/54093.

14.

Eosinophilic esophagitis-linked calpain 14 is an IL-13-induced protease that mediates esophageal epithelial barrier impairment.

Davis BP, Stucke EM, Khorki ME, Litosh VA, Rymer JK, Rochman M, Travers J, Kottyan LC, Rothenberg ME.

JCI Insight. 2016 Apr;1(4):e86355.

15.

Nanovesicle-targeted Kv1.3 knockdown in memory T cells suppresses CD40L expression and memory phenotype.

Chimote AA, Hajdu P, Kottyan LC, Harley JB, Yun Y, Conforti L.

J Autoimmun. 2016 May;69:86-93. doi: 10.1016/j.jaut.2016.03.004. Epub 2016 Mar 16.

16.

X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and Sjögren's Syndrome.

Liu K, Kurien BT, Zimmerman SL, Kaufman KM, Taft DH, Kottyan LC, Lazaro S, Weaver CA, Ice JA, Adler AJ, Chodosh J, Radfar L, Rasmussen A, Stone DU, Lewis DM, Li S, Koelsch KA, Igoe A, Talsania M, Kumar J, Maier-Moore JS, Harris VM, Gopalakrishnan R, Jonsson R, Lessard JA, Lu X, Gottenberg JE, Anaya JM, Cunninghame-Graham DS, Huang AJW, Brennan MT, Hughes P, Illei GG, Miceli-Richard C, Keystone EC, Bykerk VP, Hirschfield G, Xie G, Ng WF, Nordmark G, Eriksson P, Omdal R, Rhodus NL, Rischmueller M, Rohrer M, Segal BM, Vyse TJ, Wahren-Herlenius M, Witte T, Pons-Estel B, Alarcon-Riquelme ME, Guthridge JM, James JA, Lessard CJ, Kelly JA, Thompson SD, Gaffney PM, Montgomery CG, Edberg JC, Kimberly RP, Alarcón GS, Langefeld CL, Gilkeson GS, Kamen DL, Tsao BP, McCune WJ, Salmon JE, Merrill JT, Weisman MH, Wallace DJ, Utset TO, Bottinger EP, Amos CI, Siminovitch KA, Mariette X, Sivils KL, Harley JB, Scofield RH.

Arthritis Rheumatol. 2016 May;68(5):1290-1300. doi: 10.1002/art.39560.

17.

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.

Proc Natl Acad Sci U S A. 2015 Dec 29;112(52):15970-5. doi: 10.1073/pnas.1520779112. Epub 2015 Nov 23.

18.

Lupus Risk Variant Increases pSTAT1 Binding and Decreases ETS1 Expression.

Lu X, Zoller EE, Weirauch MT, Wu Z, Namjou B, Williams AH, Ziegler JT, Comeau ME, Marion MC, Glenn SB, Adler A, Shen N, Nath SK, Stevens AM, Freedman BI, Tsao BP, Jacob CO, Kamen DL, Brown EE, Gilkeson GS, Alarcón GS, Reveille JD, Anaya JM, James JA, Sivils KL, Criswell LA, Vilá LM, Alarcón-Riquelme ME, Petri M, Scofield RH, Kimberly RP, Ramsey-Goldman R, Joo YB, Choi J, Bae SC, Boackle SA, Graham DC, Vyse TJ, Guthridge JM, Gaffney PM, Langefeld CD, Kelly JA, Greis KD, Kaufman KM, Harley JB, Kottyan LC.

Am J Hum Genet. 2015 May 7;96(5):731-9. doi: 10.1016/j.ajhg.2015.03.002. Epub 2015 Apr 9.

19.

Lupus risk variants in the PXK locus alter B-cell receptor internalization.

Vaughn SE, Foley C, Lu X, Patel ZH, Zoller EE, Magnusen AF, Williams AH, Ziegler JT, Comeau ME, Marion MC, Glenn SB, Adler A, Shen N, Nath S, Stevens AM, Freedman BI, Tsao BP, Jacob CO, Kamen DL, Brown EE, Gilkeson GS, Alarcón GS, Reveille JD, Anaya JM, James JA, Moser KL, Criswell LA, Vilá LM, Alarcón-Riquelme ME, Petri M, Scofield RH, Kimberly RP, Ramsey-Goldman R, Binjoo Y, Choi J, Bae SC, Boackle SA, Vyse TJ, Guthridge JM, Namjou B, Gaffney PM, Langefeld CD, Kaufman KM, Kelly JA, Harley IT, Harley JB, Kottyan LC.

Front Genet. 2015 Jan 8;5:450. doi: 10.3389/fgene.2014.00450. eCollection 2014.

20.

Meta-analysis of differential gene co-expression: application to lupus.

Makashir SB, Kottyan LC, Weirauch MT.

Pac Symp Biocomput. 2015:443-54.

21.

Making it big in allergy.

Kottyan LC, Weirauch MT, Rothenberg ME.

J Allergy Clin Immunol. 2015 Jan;135(1):43-5. doi: 10.1016/j.jaci.2014.10.041. No abstract available.

PMID:
25567041
22.

Imputation and quality control steps for combining multiple genome-wide datasets.

Verma SS, de Andrade M, Tromp G, Kuivaniemi H, Pugh E, Namjou-Khales B, Mukherjee S, Jarvik GP, Kottyan LC, Burt A, Bradford Y, Armstrong GD, Derr K, Crawford DC, Haines JL, Li R, Crosslin D, Ritchie MD.

Front Genet. 2014 Dec 11;5:370. doi: 10.3389/fgene.2014.00370. eCollection 2014.

23.

The effect of inversion at 8p23 on BLK association with lupus in Caucasian population.

Namjou B, Ni Y, Harley IT, Chepelev I, Cobb B, Kottyan LC, Gaffney PM, Guthridge JM, Kaufman K, Harley JB.

PLoS One. 2014 Dec 29;9(12):e115614. doi: 10.1371/journal.pone.0115614. eCollection 2014.

24.

Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis.

Namjou B, Marsolo K, Caroll RJ, Denny JC, Ritchie MD, Verma SS, Lingren T, Porollo A, Cobb BL, Perry C, Kottyan LC, Rothenberg ME, Thompson SD, Holm IA, Kohane IS, Harley JB.

Front Genet. 2014 Nov 18;5:401. doi: 10.3389/fgene.2014.00401. eCollection 2014.

25.

Twin and family studies reveal strong environmental and weaker genetic cues explaining heritability of eosinophilic esophagitis.

Alexander ES, Martin LJ, Collins MH, Kottyan LC, Sucharew H, He H, Mukkada VA, Succop PA, Abonia JP, Foote H, Eby MD, Grotjan TM, Greenler AJ, Dellon ES, Demain JG, Furuta GT, Gurian LE, Harley JB, Hopp RJ, Kagalwalla A, Kaul A, Nadeau KC, Noel RJ, Putnam PE, von Tiehl KF, Rothenberg ME.

J Allergy Clin Immunol. 2014 Nov;134(5):1084-1092.e1. doi: 10.1016/j.jaci.2014.07.021. Epub 2014 Sep 22.

26.

The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share.

Kottyan LC, Zoller EE, Bene J, Lu X, Kelly JA, Rupert AM, Lessard CJ, Vaughn SE, Marion M, Weirauch MT, Namjou B, Adler A, Rasmussen A, Glenn S, Montgomery CG, Hirschfield GM, Xie G, Coltescu C, Amos C, Li H, Ice JA, Nath SK, Mariette X, Bowman S; UK Primary Sjögren's Syndrome Registry, Rischmueller M, Lester S, Brun JG, Gøransson LG, Harboe E, Omdal R, Cunninghame-Graham DS, Vyse T, Miceli-Richard C, Brennan MT, Lessard JA, Wahren-Herlenius M, Kvarnström M, Illei GG, Witte T, Jonsson R, Eriksson P, Nordmark G, Ng WF; UK Primary Sjögren's Syndrome Registry, Anaya JM, Rhodus NL, Segal BM, Merrill JT, James JA, Guthridge JM, Scofield RH, Alarcon-Riquelme M, Bae SC, Boackle SA, Criswell LA, Gilkeson G, Kamen DL, Jacob CO, Kimberly R, Brown E, Edberg J, Alarcón GS, Reveille JD, Vilá LM, Petri M, Ramsey-Goldman R, Freedman BI, Niewold T, Stevens AM, Tsao BP, Ying J, Mayes MD, Gorlova OY, Wakeland W, Radstake T, Martin E, Martin J, Siminovitch K, Moser Sivils KL, Gaffney PM, Langefeld CD, Harley JB, Kaufman KM.

Hum Mol Genet. 2015 Jan 15;24(2):582-96. doi: 10.1093/hmg/ddu455. Epub 2014 Sep 8.

27.

Association of systemic lupus erythematosus with uranium exposure in a community living near a uranium-processing plant: a nested case-control study.

Lu-Fritts PY, Kottyan LC, James JA, Xie C, Buckholz JM, Pinney SM, Harley JB.

Arthritis Rheumatol. 2014 Nov;66(11):3105-12. doi: 10.1002/art.38786.

28.

Whole exome sequencing for familial bicuspid aortic valve identifies putative variants.

Martin LJ, Pilipenko V, Kaufman KM, Cripe L, Kottyan LC, Keddache M, Dexheimer P, Weirauch MT, Benson DW.

Circ Cardiovasc Genet. 2014 Oct;7(5):677-83. doi: 10.1161/CIRCGENETICS.114.000526. Epub 2014 Aug 1.

PMID:
25085919
29.

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.

Nat Genet. 2014 Aug;46(8):895-900. doi: 10.1038/ng.3033. Epub 2014 Jul 13.

30.

The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors.

Patel ZH, Kottyan LC, Lazaro S, Williams MS, Ledbetter DH, Tromp H, Rupert A, Kohram M, Wagner M, Husami A, Qian Y, Valencia CA, Zhang K, Hostetter MK, Harley JB, Kaufman KM.

Front Genet. 2014 Feb 12;5:16. doi: 10.3389/fgene.2014.00016. eCollection 2014.

31.

Novel variations in the adiponectin gene (ADIPOQ) may affect distribution of oligomeric complexes.

Kottyan LC, Woo JG, Keddache M, Banach W, Crimmins NA, Dolan LM, Martin LJ.

Springerplus. 2012 Dec;1(1):66. doi: 10.1186/2193-1801-1-66. Epub 2012 Dec 14.

32.

Genetic susceptibility to lupus: the biological basis of genetic risk found in B cell signaling pathways.

Vaughn SE, Kottyan LC, Munroe ME, Harley JB.

J Leukoc Biol. 2012 Sep;92(3):577-91. doi: 10.1189/jlb.0212095. Epub 2012 Jun 29. Review.

33.

Increased susceptibility of 129SvEvBrd mice to IgE-Mast cell mediated anaphylaxis.

Arumugam M, Ahrens R, Osterfeld H, Kottyan LC, Shang X, Maclennan JA, Zimmermann N, Zheng Y, Finkelman FD, Hogan SP.

BMC Immunol. 2011 Feb 3;12:14. doi: 10.1186/1471-2172-12-14.

34.

Eosinophil viability is increased by acidic pH in a cAMP- and GPR65-dependent manner.

Kottyan LC, Collier AR, Cao KH, Niese KA, Hedgebeth M, Radu CG, Witte ON, Khurana Hershey GK, Rothenberg ME, Zimmermann N.

Blood. 2009 Sep 24;114(13):2774-82. doi: 10.1182/blood-2009-05-220681. Epub 2009 Jul 29.

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