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Page 1
Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis.
Ghasempour S, Warner N, Guan R, Rodari MM, Ivanochko D, Whittaker Hawkins R, Marwaha A, Nowak JK, Liang Y, Mulder DJ, Stallard L, Li M, Yu DD, Pluthero FG, Batura V, Zhao M, Siddiqui I, Upton JEM, Hulst JM, Kahr WHA, Mendoza-Londono R, Charbit-Henrion F, Hoefsloot LH, Khiat A, Moreira D, Trindade E, Espinheira MDC, Pinto Pais I, Weerts MJA, Douben H, Kotlarz D, Snapper SB, Klein C, Dowling JJ, Julien JP, Joosten M, Cerf-Bensussan N, Freeman SA, Parlato M, van Ham TJ, Muise AM. Ghasempour S, et al. Among authors: muise am. J Exp Med. 2024 Dec 2;221(12):e20240546. doi: 10.1084/jem.20240546. Epub 2024 Nov 11. J Exp Med. 2024. PMID: 39526957 Free PMC article.
IL-10R polymorphisms are associated with very-early-onset ulcerative colitis.
Moran CJ, Walters TD, Guo CH, Kugathasan S, Klein C, Turner D, Wolters VM, Bandsma RH, Mouzaki M, Zachos M, Langer JC, Cutz E, Benseler SM, Roifman CM, Silverberg MS, Griffiths AM, Snapper SB, Muise AM. Moran CJ, et al. Among authors: muise am. Inflamm Bowel Dis. 2013 Jan;19(1):115-23. doi: 10.1002/ibd.22974. Inflamm Bowel Dis. 2013. PMID: 22550014 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: muise am. 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: muise am. Clin Transl Gastroenterol. 2014 Jan 16;5(1):e46. doi: 10.1038/ctg.2013.17. Clin Transl Gastroenterol. 2014. PMID: 24430113 Free PMC article.
Very early onset inflammatory bowel disease associated with aberrant trafficking of IL-10R1 and cure by T cell replete haploidentical bone marrow transplantation.
Murugan D, Albert MH, Langemeier J, Bohne J, Puchalka J, Järvinen PM, Hauck F, Klenk AK, Prell C, Schatz S, Diestelhorst J, Sciskala B, Kohistani N, Belohradsky BH, Müller S, Kirchner T, Walter MR, Bufler P, Muise AM, Snapper SB, Koletzko S, Klein C, Kotlarz D. Murugan D, et al. Among authors: muise am. J Clin Immunol. 2014 Apr;34(3):331-9. doi: 10.1007/s10875-014-9992-8. Epub 2014 Feb 12. J Clin Immunol. 2014. PMID: 24519095
Interleukin-10 receptor signaling in innate immune cells regulates mucosal immune tolerance and anti-inflammatory macrophage function.
Shouval DS, Biswas A, Goettel JA, McCann K, Conaway E, Redhu NS, Mascanfroni ID, Al Adham Z, Lavoie S, Ibourk M, Nguyen DD, Samsom JN, Escher JC, Somech R, Weiss B, Beier R, Conklin LS, Ebens CL, Santos FG, Ferreira AR, Sherlock M, Bhan AK, Müller W, Mora JR, Quintana FJ, Klein C, Muise AM, Horwitz BH, Snapper SB. Shouval DS, et al. Among authors: muise am. Immunity. 2014 May 15;40(5):706-19. doi: 10.1016/j.immuni.2014.03.011. Epub 2014 May 1. Immunity. 2014. PMID: 24792912 Free PMC article.
Variants in nicotinamide adenine dinucleotide phosphate oxidase complex components determine susceptibility to very early onset inflammatory bowel disease.
Dhillon SS, Fattouh R, Elkadri A, Xu W, Murchie R, Walters T, Guo C, Mack D, Huynh HQ, Baksh S, Silverberg MS, Griffiths AM, Snapper SB, Brumell JH, Muise AM. Dhillon SS, et al. Among authors: muise am. Gastroenterology. 2014 Sep;147(3):680-689.e2. doi: 10.1053/j.gastro.2014.06.005. Epub 2014 Jun 12. Gastroenterology. 2014. PMID: 24931457
142 results