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Synonymous but Not Silent: A Synonymous VHL Variant in Exon 2 Confers Susceptibility to Familial Pheochromocytoma and von Hippel-Lindau Disease.
Flores SK, Cheng Z, Jasper AM, Natori K, Okamoto T, Tanabe A, Gotoh K, Shibata H, Sakurai A, Nakai T, Wang X, Zethoven M, Balachander S, Aita Y, Young W, Zheng S, Takekoshi K, Nakamura E, Tothill RW, Aguiar RCT, Dahia PLM. Flores SK, et al. Among authors: aguiar rct. J Clin Endocrinol Metab. 2019 Sep 1;104(9):3826-3834. doi: 10.1210/jc.2019-00235. J Clin Endocrinol Metab. 2019. PMID: 30946460 Free PMC article.
Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.
Qin Y, Yao L, King EE, Buddavarapu K, Lenci RE, Chocron ES, Lechleiter JD, Sass M, Aronin N, Schiavi F, Boaretto F, Opocher G, Toledo RA, Toledo SP, Stiles C, Aguiar RC, Dahia PL. Qin Y, et al. Nat Genet. 2010 Mar;42(3):229-33. doi: 10.1038/ng.533. Epub 2010 Feb 14. Nat Genet. 2010. PMID: 20154675 Free PMC article.
The tumor suppressor TMEM127 regulates insulin sensitivity in a tissue-specific manner.
Srikantan S, Deng Y, Cheng ZM, Luo A, Qin Y, Gao Q, Sande-Docor GM, Tao S, Zhang X, Harper N, Shannon CE, Fourcaudot M, Li Z, Kasinath BS, Harrison S, Ahuja S, Reddick RL, Dong LQ, Abdul-Ghani M, Norton L, Aguiar RCT, Dahia PLM. Srikantan S, et al. Among authors: aguiar rct. Nat Commun. 2019 Oct 17;10(1):4720. doi: 10.1038/s41467-019-12661-0. Nat Commun. 2019. PMID: 31624249 Free PMC article.
A RET::GRB2 fusion in pheochromocytoma defies the classic paradigm of RET oncogenic fusions.
Estrada-Zuniga CM, Cheng ZM, Ethiraj P, Guo Q, Gonzalez-Cantú H, Adderley E, Lopez H, Landry BN, Zainal A, Aronin N, Ding Y, Wang X, Aguiar RCT, Dahia PLM. Estrada-Zuniga CM, et al. Among authors: aguiar rct. Cell Rep Med. 2022 Jul 19;3(7):100686. doi: 10.1016/j.xcrm.2022.100686. Cell Rep Med. 2022. PMID: 35858593 Free PMC article.
IDH Mutation, Competitive Inhibition of FTO, and RNA Methylation.
Elkashef SM, Lin AP, Myers J, Sill H, Jiang D, Dahia PLM, Aguiar RCT. Elkashef SM, et al. Among authors: aguiar rct. Cancer Cell. 2017 May 8;31(5):619-620. doi: 10.1016/j.ccell.2017.04.001. Cancer Cell. 2017. PMID: 28486104 Free PMC article. No abstract available.
75 results