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Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model.
Alves MM, Sribudiani Y, Brouwer RW, Amiel J, Antiñolo G, Borrego S, Ceccherini I, Chakravarti A, Fernández RM, Garcia-Barcelo MM, Griseri P, Lyonnet S, Tam PK, van Ijcken WF, Eggen BJ, te Meerman GJ, Hofstra RM. Alves MM, et al. Among authors: eggen bj. Dev Biol. 2013 Oct 1;382(1):320-9. doi: 10.1016/j.ydbio.2013.05.019. Epub 2013 May 23. Dev Biol. 2013. PMID: 23707863 Free article. Review.
APOE4 impairs the microglial response in Alzheimer's disease by inducing TGFβ-mediated checkpoints.
Yin Z, Rosenzweig N, Kleemann KL, Zhang X, Brandão W, Margeta MA, Schroeder C, Sivanathan KN, Silveira S, Gauthier C, Mallah D, Pitts KM, Durao A, Herron S, Shorey H, Cheng Y, Barry JL, Krishnan RK, Wakelin S, Rhee J, Yung A, Aronchik M, Wang C, Jain N, Bao X, Gerrits E, Brouwer N, Deik A, Tenen DG, Ikezu T, Santander NG, McKinsey GL, Baufeld C, Sheppard D, Krasemann S, Nowarski R, Eggen BJL, Clish C, Tanzi RE, Madore C, Arnold TD, Holtzman DM, Butovsky O. Yin Z, et al. Nat Immunol. 2023 Nov;24(11):1839-1853. doi: 10.1038/s41590-023-01627-6. Epub 2023 Sep 25. Nat Immunol. 2023. PMID: 37749326 Free PMC article.
RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor.
Plaza Menacho I, Koster R, van der Sloot AM, Quax WJ, Osinga J, van der Sluis T, Hollema H, Burzynski GM, Gimm O, Buys CH, Eggen BJ, Hofstra RM. Plaza Menacho I, et al. Among authors: eggen bj. Cancer Res. 2005 Mar 1;65(5):1729-37. doi: 10.1158/0008-5472.CAN-04-2363. Cancer Res. 2005. PMID: 15753368
Current concepts in RET-related genetics, signaling and therapeutics.
Plaza-Menacho I, Burzynski GM, de Groot JW, Eggen BJ, Hofstra RM. Plaza-Menacho I, et al. Among authors: eggen bj. Trends Genet. 2006 Nov;22(11):627-36. doi: 10.1016/j.tig.2006.09.005. Epub 2006 Sep 18. Trends Genet. 2006. PMID: 16979782 Review.
Ras/ERK1/2-mediated STAT3 Ser727 phosphorylation by familial medullary thyroid carcinoma-associated RET mutants induces full activation of STAT3 and is required for c-fos promoter activation, cell mitogenicity, and transformation.
Plaza-Menacho I, van der Sluis T, Hollema H, Gimm O, Buys CH, Magee AI, Isacke CM, Hofstra RM, Eggen BJ. Plaza-Menacho I, et al. Among authors: eggen bj. J Biol Chem. 2007 Mar 2;282(9):6415-24. doi: 10.1074/jbc.M608952200. Epub 2007 Jan 5. J Biol Chem. 2007. PMID: 17209045 Free article.
148 results