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Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease.
Kahr WH, Pluthero FG, Elkadri A, Warner N, Drobac M, Chen CH, Lo RW, Li L, Li R, Li Q, Thoeni C, Pan J, Leung G, Lara-Corrales I, Murchie R, Cutz E, Laxer RM, Upton J, Roifman CM, Yeung RS, Brumell JH, Muise AM. Kahr WH, et al. Among authors: brumell jh. Nat Commun. 2017 Apr 3;8:14816. doi: 10.1038/ncomms14816. Nat Commun. 2017. PMID: 28368018 Free PMC article.
Single nucleotide polymorphisms that increase expression of the guanosine triphosphatase RAC1 are associated with ulcerative colitis.
Muise AM, Walters T, Xu W, Shen-Tu G, Guo CH, Fattouh R, Lam GY, Wolters VM, Bennitz J, van Limbergen J, Renbaum P, Kasirer Y, Ngan BY, Turner D, Denson LA, Sherman PM, Duerr RH, Cho J, Lees CW, Satsangi J, Wilson DC, Paterson AD, Griffiths AM, Glogauer M, Silverberg MS, Brumell JH. Muise AM, et al. Among authors: brumell jh. Gastroenterology. 2011 Aug;141(2):633-41. doi: 10.1053/j.gastro.2011.04.057. Epub 2011 May 4. Gastroenterology. 2011. PMID: 21684284 Free PMC article.
NADPH oxidase complex and IBD candidate gene studies: identification of a rare variant in NCF2 that results in reduced binding to RAC2.
Muise AM, Xu W, Guo CH, Walters TD, Wolters VM, Fattouh R, Lam GY, Hu P, Murchie R, Sherlock M, Gana JC; NEOPICS; Russell RK, Glogauer M, Duerr RH, Cho JH, Lees CW, Satsangi J, Wilson DC, Paterson AD, Griffiths AM, Silverberg MS, Brumell JH. Muise AM, et al. Among authors: brumell jh. Gut. 2012 Jul;61(7):1028-35. doi: 10.1136/gutjnl-2011-300078. Epub 2011 Sep 7. Gut. 2012. PMID: 21900546 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. Among authors: brumell jh. 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.
Higher activity of the inducible nitric oxide synthase contributes to very early onset inflammatory bowel disease.
Dhillon SS, Mastropaolo LA, Murchie R, Griffiths C, Thöni C, Elkadri A, Xu W, Mack A, Walters T, Guo C, Mack D, Huynh H, Baksh S, Silverberg MS, Brumell JH, Snapper SB, Muise AM. Dhillon SS, et al. Among authors: brumell jh. Clin Transl Gastroenterol. 2014 Jan 16;5(1):e46. doi: 10.1038/ctg.2013.17. Clin Transl Gastroenterol. 2014. PMID: 24430113 Free PMC article.
158 results