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A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia.
Horvath A, Boikos S, Giatzakis C, Robinson-White A, Groussin L, Griffin KJ, Stein E, Levine E, Delimpasi G, Hsiao HP, Keil M, Heyerdahl S, Matyakhina L, Libè R, Fratticci A, Kirschner LS, Cramer K, Gaillard RC, Bertagna X, Carney JA, Bertherat J, Bossis I, Stratakis CA. Horvath A, et al. Among authors: bossis i. Nat Genet. 2006 Jul;38(7):794-800. doi: 10.1038/ng1809. Epub 2006 Jun 11. Nat Genet. 2006. PMID: 16767104
Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population.
Horvath A, Giatzakis C, Robinson-White A, Boikos S, Levine E, Griffin K, Stein E, Kamvissi V, Soni P, Bossis I, de Herder W, Carney JA, Bertherat J, Gregersen PK, Remmers EF, Stratakis CA. Horvath A, et al. Among authors: bossis i. Cancer Res. 2006 Dec 15;66(24):11571-5. doi: 10.1158/0008-5472.CAN-06-2914. Cancer Res. 2006. PMID: 17178847
Protein kinase A effects of an expressed PRKAR1A mutation associated with aggressive tumors.
Meoli E, Bossis I, Cazabat L, Mavrakis M, Horvath A, Stergiopoulos S, Shiferaw ML, Fumey G, Perlemoine K, Muchow M, Robinson-White A, Weinberg F, Nesterova M, Patronas Y, Groussin L, Bertherat J, Stratakis CA. Meoli E, et al. Among authors: bossis i. Cancer Res. 2008 May 1;68(9):3133-41. doi: 10.1158/0008-5472.CAN-08-0064. Cancer Res. 2008. PMID: 18451138 Free PMC article.
8-Cl-adenosine inhibits proliferation and causes apoptosis in B-lymphocytes via protein kinase A-dependent and independent effects: implications for treatment of Carney complex-associated tumors.
Robinson-White AJ, Bossis I, Hsiao HP, Nesterova M, Leitner WW, Stratakis CA. Robinson-White AJ, et al. Among authors: bossis i. J Clin Endocrinol Metab. 2009 Oct;94(10):4061-9. doi: 10.1210/jc.2009-0759. Epub 2009 Sep 22. J Clin Endocrinol Metab. 2009. PMID: 19773399 Free PMC article.
Mouse Prkar1a haploinsufficiency leads to an increase in tumors in the Trp53+/- or Rb1+/- backgrounds and chemically induced skin papillomas by dysregulation of the cell cycle and Wnt signaling.
Almeida MQ, Muchow M, Boikos S, Bauer AJ, Griffin KJ, Tsang KM, Cheadle C, Watkins T, Wen F, Starost MF, Bossis I, Nesterova M, Stratakis CA. Almeida MQ, et al. Among authors: bossis i. Hum Mol Genet. 2010 Apr 15;19(8):1387-98. doi: 10.1093/hmg/ddq014. Epub 2010 Jan 15. Hum Mol Genet. 2010. PMID: 20080939 Free PMC article.
Genetics of the adrenal gland.
Stratakis CA, Bossis I. Stratakis CA, et al. Among authors: bossis i. Rev Endocr Metab Disord. 2004 Mar;5(1):53-68. doi: 10.1023/B:REMD.0000016124.44064.8f. Rev Endocr Metab Disord. 2004. PMID: 14966389 Review. No abstract available.
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