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Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.
Ouahed J, Kelsen JR, Spessott WA, Kooshesh K, Sanmillan ML, Dawany N, Sullivan KE, Hamilton KE, Slowik V, Nejentsev S, Neves JF, Flores H, Chung WK, Wilson A, Anyane-Yeboa K, Wou K, Jain P, Field M, Tollefson S, Dent MH, Li D, Naito T, McGovern DPB, Kwong AC, Taliaferro F, Ordovas-Montanes J, Horwitz BH, Kotlarz D, Klein C, Evans J, Dorsey J, Warner N, Elkadri A, Muise AM, Goldsmith J, Thompson B, Engelhardt KR, Cant AJ, Hambleton S, Barclay A, Toth-Petroczy A, Vuzman D, Carmichael N, Bodea C, Cassa CA, Devoto M, Maas RL, Behrens EM, Giraudo CG, Snapper SB. Ouahed J, et al. Among authors: mcgovern dpb. J Crohns Colitis. 2021 Nov 8;15(11):1908-1919. doi: 10.1093/ecco-jcc/jjab077. J Crohns Colitis. 2021. PMID: 33891011 Free PMC article.
Common variants at five new loci associated with early-onset inflammatory bowel disease.
Imielinski M, Baldassano RN, Griffiths A, Russell RK, Annese V, Dubinsky M, Kugathasan S, Bradfield JP, Walters TD, Sleiman P, Kim CE, Muise A, Wang K, Glessner JT, Saeed S, Zhang H, Frackelton EC, Hou C, Flory JH, Otieno G, Chiavacci RM, Grundmeier R, Castro M, Latiano A, Dallapiccola B, Stempak J, Abrams DJ, Taylor K, McGovern D; Western Regional Alliance for Pediatric IBD; Silber G, Wrobel I, Quiros A; International IBD Genetics Consortium; Barrett JC, Hansoul S, Nicolae DL, Cho JH, Duerr RH, Rioux JD, Brant SR, Silverberg MS, Taylor KD, Barmuda MM, Bitton A, Dassopoulos T, Datta LW, Green T, Griffiths AM, Kistner EO, Murtha MT, Regueiro MD, Rotter JI, Schumm LP, Steinhart AH, Targan SR, Xavier RJ; NIDDK IBD Genetics Consortium; Libioulle C, Sandor C, Lathrop M, Belaiche J, Dewit O, Gut I, Heath S, Laukens D, Mni M, Rutgeerts P, Van Gossum A, Zelenika D, Franchimont D, Hugot JP, de Vos M, Vermeire S, Louis E; Belgian-French IBD Consortium; Wellcome Trust Case Control Consortium; Cardon LR, Anderson CA, Drummond H, Nimmo E, Ahmad T, Prescott NJ, Onnie CM, Fisher SA, Marchini J, Ghori J, Bumpstead S, Gwillam R, Tremelling M, Delukas P, Mansfield J, Jewell D, Satsangi J, Mathew CG… See abstract for full author list ➔ Imielinski M, et al. Nat Genet. 2009 Dec;41(12):1335-40. doi: 10.1038/ng.489. Epub 2009 Nov 15. Nat Genet. 2009. PMID: 19915574 Free PMC article.
Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.
Avitzur Y, Guo C, Mastropaolo LA, Bahrami E, Chen H, Zhao Z, Elkadri A, Dhillon S, Murchie R, Fattouh R, Huynh H, Walker JL, Wales PW, Cutz E, Kakuta Y, Dudley J, Kammermeier J, Powrie F, Shah N, Walz C, Nathrath M, Kotlarz D, Puchaka J, Krieger JR, Racek T, Kirchner T, Walters TD, Brumell JH, Griffiths AM, Rezaei N, Rashtian P, Najafi M, Monajemzadeh M, Pelsue S, McGovern DP, Uhlig HH, Schadt E, Klein C, Snapper SB, Muise AM. Avitzur Y, et al. Gastroenterology. 2014 Apr;146(4):1028-39. doi: 10.1053/j.gastro.2014.01.015. Epub 2014 Jan 11. Gastroenterology. 2014. PMID: 24417819 Free PMC article.
Genetics of Inflammatory Bowel Diseases.
McGovern DP, Kugathasan S, Cho JH. McGovern DP, et al. Gastroenterology. 2015 Oct;149(5):1163-1176.e2. doi: 10.1053/j.gastro.2015.08.001. Epub 2015 Aug 7. Gastroenterology. 2015. PMID: 26255561 Free PMC article. Review.
Defects in NADPH Oxidase Genes NOX1 and DUOX2 in Very Early Onset Inflammatory Bowel Disease.
Hayes P, Dhillon S, O'Neill K, Thoeni C, Hui KY, Elkadri A, Guo CH, Kovacic L, Aviello G, Alvarez LA, Griffiths AM, Snapper SB, Brant SR, Doroshow JH, Silverberg MS, Peter I, McGovern DP, Cho J, Brumell JH, Uhlig HH, Bourke B, Muise AA, Knaus UG. Hayes P, et al. Cell Mol Gastroenterol Hepatol. 2015 Sep 1;1(5):489-502. doi: 10.1016/j.jcmgh.2015.06.005. Cell Mol Gastroenterol Hepatol. 2015. PMID: 26301257 Free PMC article.
Ocular Manifestations in Inflammatory Bowel Disease Are Associated with Other Extra-intestinal Manifestations, Gender, and Genes Implicated in Other Immune-related Traits.
Taleban S, Li D, Targan SR, Ippoliti A, Brant SR, Cho JH, Duerr RH, Rioux JD, Silverberg MS, Vasiliauskas EA, Rotter JI, Haritunians T, Shih DQ, Dubinsky M, Melmed GY, McGovern DP. Taleban S, et al. J Crohns Colitis. 2016 Jan;10(1):43-9. doi: 10.1093/ecco-jcc/jjv178. Epub 2015 Oct 8. J Crohns Colitis. 2016. PMID: 26449790 Free PMC article.
TNFRSF1B Is Associated with ANCA in IBD.
Li D, Silverberg MS, Haritunians T, Dubinsky MC, Landers C, Stempak JM, Milgrom R, Guo X, Chen YD, Rotter JI, Taylor KD, McGovern DP, Targan SR. Li D, et al. Inflamm Bowel Dis. 2016 Jun;22(6):1346-52. doi: 10.1097/MIB.0000000000000771. Inflamm Bowel Dis. 2016. PMID: 27104820 Free PMC article.
287 results