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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: tsang km. 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.
A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex.
Horvath A, Giatzakis C, Tsang K, Greene E, Osorio P, Boikos S, Libè R, Patronas Y, Robinson-White A, Remmers E, Bertherat J, Nesterova M, Stratakis CA. Horvath A, et al. Eur J Hum Genet. 2008 Oct;16(10):1245-53. doi: 10.1038/ejhg.2008.85. Epub 2008 Apr 23. Eur J Hum Genet. 2008. PMID: 18431404 Free PMC article.
In vitro studies of novel PRKAR1A mutants that extend the predicted RIα protein sequence into the 3'-untranslated open reading frame: proteasomal degradation leads to RIα haploinsufficiency and Carney complex.
Patronas Y, Horvath A, Greene E, Tsang K, Bimpaki E, Haran M, Nesterova M, Stratakis CA. Patronas Y, et al. J Clin Endocrinol Metab. 2012 Mar;97(3):E496-502. doi: 10.1210/jc.2011-2220. Epub 2011 Dec 28. J Clin Endocrinol Metab. 2012. PMID: 22205709 Free PMC article.
The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes.
Stratakis CA, Tichomirowa MA, Boikos S, Azevedo MF, Lodish M, Martari M, Verma S, Daly AF, Raygada M, Keil MF, Papademetriou J, Drori-Herishanu L, Horvath A, Tsang KM, Nesterova M, Franklin S, Vanbellinghen JF, Bours V, Salvatori R, Beckers A. Stratakis CA, et al. Among authors: tsang km. Clin Genet. 2010 Nov;78(5):457-63. doi: 10.1111/j.1399-0004.2010.01406.x. Clin Genet. 2010. PMID: 20507346 Free PMC article.
Hematopoietic neoplasms in Prkar2a-deficient mice.
Saloustros E, Salpea P, Qi CF, Gugliotti LA, Tsang K, Liu S, Starost MF, Morse HC 3rd, Stratakis CA. Saloustros E, et al. J Exp Clin Cancer Res. 2015 Nov 25;34:143. doi: 10.1186/s13046-015-0257-z. J Exp Clin Cancer Res. 2015. PMID: 26608815 Free PMC article.
Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors.
Horvath A, Korde L, Greene MH, Libe R, Osorio P, Faucz FR, Raffin-Sanson ML, Tsang KM, Drori-Herishanu L, Patronas Y, Remmers EF, Nikita ME, Moran J, Greene J, Nesterova M, Merino M, Bertherat J, Stratakis CA. Horvath A, et al. Among authors: tsang km. Cancer Res. 2009 Jul 1;69(13):5301-6. doi: 10.1158/0008-5472.CAN-09-0884. Epub 2009 Jun 23. Cancer Res. 2009. PMID: 19549888 Free PMC article.
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