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Pde8b haploinsufficiency in mice is associated with modest adrenal defects, impaired steroidogenesis, and male infertility, unaltered by concurrent PKA or Wnt activation.
Leal LF, Szarek E, Berthon A, Nesterova M, Faucz FR, London E, Mercier C, Abu-Asab M, Starost MF, Dye L, Bilinska B, Kotula-Balak M, Antonini SR, Stratakis CA. Leal LF, et al. Among authors: antonini sr. Mol Cell Endocrinol. 2021 Feb 15;522:111117. doi: 10.1016/j.mce.2020.111117. Epub 2020 Dec 15. Mol Cell Endocrinol. 2021. PMID: 33338547
Wnt/beta-catenin pathway deregulation in childhood adrenocortical tumors.
Leal LF, Mermejo LM, Ramalho LZ, Martinelli CE Jr, Yunes JA, Seidinger AL, Mastellaro MJ, Cardinalli IA, Brandalise SR, Moreira AC, Tone LG, Scrideli CA, Castro M, Antonini SR. Leal LF, et al. Among authors: antonini sr. J Clin Endocrinol Metab. 2011 Oct;96(10):3106-14. doi: 10.1210/jc.2011-0363. Epub 2011 Aug 17. J Clin Endocrinol Metab. 2011. PMID: 21849527
Altered expression of noncanonical Wnt pathway genes in paediatric and adult adrenocortical tumours.
Mermejo LM, Leal LF, Colli LM, Fragoso MC, Latronico AC, Tone LG, Scrideli CA, Tucci S, Martinelli CE, Yunes JA, Mastellaro MJ, Seidinger AL, Brandalise SR, Moreira AC, Ramalho LN, Antonini SR, Castro M. Mermejo LM, et al. Among authors: antonini sr. Clin Endocrinol (Oxf). 2014 Oct;81(4):503-10. doi: 10.1111/cen.12462. Epub 2014 May 19. Clin Endocrinol (Oxf). 2014. PMID: 24717047
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.
Bear KA, Solomon BD, Antonini S, Arnhold IJ, França MM, Gerkes EH, Grange DK, Hadley DW, Jääskeläinen J, Paulo SS, Rump P, Stratakis CA, Thompson EM, Willis M, Winder TL, Jorge AA, Roessler E, Muenke M. Bear KA, et al. J Med Genet. 2014 Jun;51(6):413-8. doi: 10.1136/jmedgenet-2013-102249. Epub 2014 Apr 17. J Med Genet. 2014. PMID: 24744436 Free PMC article.
Unraveling the expression of the oncogene YAP1, a Wnt/beta-catenin target, in adrenocortical tumors and its association with poor outcome in pediatric patients.
Abduch RH, Carolina Bueno A, Leal LF, Cavalcanti MM, Gomes DC, Brandalise SR, Masterallo MJ, Yunes JA, Martinelli CE Jr, Tone LG, Tucci S, Molina CA, Ramalho FS, Moreira AC, Cardinalli IA, Scrideli CA, Ramalho LN, de Castro M, Antonini SR. Abduch RH, et al. Among authors: antonini sr. Oncotarget. 2016 Dec 20;7(51):84634-84644. doi: 10.18632/oncotarget.12382. Oncotarget. 2016. PMID: 27705928 Free PMC article.
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