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Page 1
Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis.
Shoda T, Kaufman KM, Wen T, Caldwell JM, Osswald GA, Purnima P, Zimmermann N, Collins MH, Rehn K, Foote H, Eby MD, Zhang W, Ben-Baruch Morgenstern N, Ballaban AY, Habel JE, Kottyan LC, Abonia JP, Mukkada VA, Putnam PE, Martin LJ, Rothenberg ME. Shoda T, et al. Among authors: kaufman km. Nat Commun. 2021 Nov 23;12(1):6795. doi: 10.1038/s41467-021-26939-9. Nat Commun. 2021. PMID: 34815391 Free PMC article.
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. Patel ZH, et al. Among authors: kaufman km. Front Genet. 2014 Feb 12;5:16. doi: 10.3389/fgene.2014.00016. eCollection 2014. Front Genet. 2014. PMID: 24575121 Free PMC article.
Profound loss of esophageal tissue differentiation in patients with eosinophilic esophagitis.
Rochman M, Travers J, Miracle CE, Bedard MC, Wen T, Azouz NP, Caldwell JM, Kc K, Sherrill JD, Davis BP, Rymer JK, Kaufman KM, Aronow BJ, Rothenberg ME. Rochman M, et al. Among authors: kaufman km. J Allergy Clin Immunol. 2017 Sep;140(3):738-749.e3. doi: 10.1016/j.jaci.2016.11.042. Epub 2017 Jan 17. J Allergy Clin Immunol. 2017. PMID: 28104354 Free PMC article.
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,… See abstract for full author list ➔ Langefeld CD, et al. Among authors: kaufman km. Nat Commun. 2017 Jul 17;8:16021. doi: 10.1038/ncomms16021. Nat Commun. 2017. PMID: 28714469 Free PMC article.
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. Harley JB, et al. Among authors: kaufman km. Nat Genet. 2018 May;50(5):699-707. doi: 10.1038/s41588-018-0102-3. Epub 2018 Apr 16. Nat Genet. 2018. PMID: 29662164 Free PMC article.
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. Sherrill JD, et al. Among authors: kaufman km. JCI Insight. 2018 Apr 19;3(8):e99922. doi: 10.1172/jci.insight.99922. eCollection 2018 Apr 19. JCI Insight. 2018. PMID: 29669943 Free PMC article.
Lupus enhancer risk variant causes dysregulation of IRF8 through cooperative lncRNA and DNA methylation machinery.
Zhou T, Zhu X, Ye Z, Wang YF, Yao C, Xu N, Zhou M, Ma J, Qin Y, Shen Y, Tang Y, Yin Z, Xu H, Zhang Y, Zang X, Ding H, Yang W, Guo Y, Harley JB, Namjou B, Kaufman KM, Kottyan LC, Weirauch MT, Hou G, Shen N. Zhou T, et al. Among authors: kaufman km. Nat Commun. 2022 Apr 6;13(1):1855. doi: 10.1038/s41467-022-29514-y. Nat Commun. 2022. PMID: 35388006 Free PMC article.
Epigenetic and transcriptional dysregulation in CD4+ T cells in patients with atopic dermatitis.
Eapen AA, Parameswaran S, Forney C, Edsall LE, Miller D, Donmez O, Dunn K, Lu X, Granitto M, Rowden H, Magier AZ, Pujato M, Chen X, Kaufman K, Bernstein DI, Devonshire AL, Rothenberg ME, Weirauch MT, Kottyan LC. Eapen AA, et al. PLoS Genet. 2022 May 16;18(5):e1009973. doi: 10.1371/journal.pgen.1009973. eCollection 2022 May. PLoS Genet. 2022. PMID: 35576187 Free PMC article.
149 results