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293 results

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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: bertagna x. Nat Genet. 2006 Jul;38(7):794-800. doi: 10.1038/ng1809. Epub 2006 Jun 11. Nat Genet. 2006. PMID: 16767104
Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology: augmented PKA signaling is associated with adrenal tumorigenesis in PPNAD.
Groussin L, Kirschner LS, Vincent-Dejean C, Perlemoine K, Jullian E, Delemer B, Zacharieva S, Pignatelli D, Carney JA, Luton JP, Bertagna X, Stratakis CA, Bertherat J. Groussin L, et al. Among authors: bertagna x. Am J Hum Genet. 2002 Dec;71(6):1433-42. doi: 10.1086/344579. Epub 2002 Nov 6. Am J Hum Genet. 2002. PMID: 12424709 Free PMC article.
Molecular and functional analysis of PRKAR1A and its locus (17q22-24) in sporadic adrenocortical tumors: 17q losses, somatic mutations, and protein kinase A expression and activity.
Bertherat J, Groussin L, Sandrini F, Matyakhina L, Bei T, Stergiopoulos S, Papageorgiou T, Bourdeau I, Kirschner LS, Vincent-Dejean C, Perlemoine K, Gicquel C, Bertagna X, Stratakis CA. Bertherat J, et al. Among authors: bertagna x. Cancer Res. 2003 Sep 1;63(17):5308-19. Cancer Res. 2003. PMID: 14500362
Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors.
Libé R, Fratticci A, Coste J, Tissier F, Horvath A, Ragazzon B, Rene-Corail F, Groussin L, Bertagna X, Raffin-Sanson ML, Stratakis CA, Bertherat J. Libé R, et al. Among authors: bertagna x. Clin Cancer Res. 2008 Jun 15;14(12):4016-24. doi: 10.1158/1078-0432.CCR-08-0106. Clin Cancer Res. 2008. PMID: 18559625 Free PMC article.
Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update.
Horvath A, Bertherat J, Groussin L, Guillaud-Bataille M, Tsang K, Cazabat L, Libé R, Remmers E, René-Corail F, Faucz FR, Clauser E, Calender A, Bertagna X, Carney JA, Stratakis CA. Horvath A, et al. Among authors: bertagna x. Hum Mutat. 2010 Apr;31(4):369-79. doi: 10.1002/humu.21178. Hum Mutat. 2010. PMID: 20358582 Free PMC article.
ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome.
Assié G, Libé R, Espiard S, Rizk-Rabin M, Guimier A, Luscap W, Barreau O, Lefèvre L, Sibony M, Guignat L, Rodriguez S, Perlemoine K, René-Corail F, Letourneur F, Trabulsi B, Poussier A, Chabbert-Buffet N, Borson-Chazot F, Groussin L, Bertagna X, Stratakis CA, Ragazzon B, Bertherat J. Assié G, et al. Among authors: bertagna x. N Engl J Med. 2013 Nov 28;369(22):2105-14. doi: 10.1056/NEJMoa1304603. N Engl J Med. 2013. PMID: 24283224 Free PMC article.
Pathogenesis of adrenocortical cancer.
Bertherat J, Bertagna X. Bertherat J, et al. Among authors: bertagna x. Best Pract Res Clin Endocrinol Metab. 2009 Apr;23(2):261-71. doi: 10.1016/j.beem.2008.10.006. Best Pract Res Clin Endocrinol Metab. 2009. PMID: 19500768 Review.
293 results