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Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.
Burzynski GM, Nolte IM, Osinga J, Ceccherini I, Twigt B, Maas S, Brooks A, Verheij J, Plaza Menacho I, Buys CH, Hofstra RM. Burzynski GM, et al. Among authors: plaza menacho i. Eur J Hum Genet. 2004 Aug;12(8):604-12. doi: 10.1038/sj.ejhg.5201199. Eur J Hum Genet. 2004. PMID: 15138456
Identifying candidate Hirschsprung disease-associated RET variants.
Burzynski GM, Nolte IM, Bronda A, Bos KK, Osinga J, Plaza Menacho I, Twigt B, Maas S, Brooks AS, Verheij JB, Buys CH, Hofstra RM. Burzynski GM, et al. Among authors: plaza menacho i. Am J Hum Genet. 2005 May;76(5):850-8. doi: 10.1086/429589. Epub 2005 Mar 9. Am J Hum Genet. 2005. PMID: 15759212 Free PMC article.
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. 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.
RET in breast cancer: functional and therapeutic implications.
Morandi A, Plaza-Menacho I, Isacke CM. Morandi A, et al. Among authors: plaza menacho i. Trends Mol Med. 2011 Mar;17(3):149-57. doi: 10.1016/j.molmed.2010.12.007. Epub 2011 Jan 19. Trends Mol Med. 2011. PMID: 21251878 Review.
26 results