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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: bertherat j. 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. Cancer Res. 2003 Sep 1;63(17):5308-19. Cancer Res. 2003. PMID: 14500362
Mutation of perinatal myosin heavy chain.
Stratakis CA, Bertherat J, Carney JA. Stratakis CA, et al. Among authors: bertherat j. N Engl J Med. 2004 Dec 9;351(24):2556-8; author reply 2556-8. doi: 10.1056/NEJM200412093512420. N Engl J Med. 2004. PMID: 15590965 No abstract available.
A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds.
Groussin L, Horvath A, Jullian E, Boikos S, Rene-Corail F, Lefebvre H, Cephise-Velayoudom FL, Vantyghem MC, Chanson P, Conte-Devolx B, Lucas M, Gentil A, Malchoff CD, Tissier F, Carney JA, Bertagna X, Stratakis CA, Bertherat J. Groussin L, et al. Among authors: bertherat j. J Clin Endocrinol Metab. 2006 May;91(5):1943-9. doi: 10.1210/jc.2005-2708. Epub 2006 Feb 7. J Clin Endocrinol Metab. 2006. PMID: 16464939 Free article.
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: bertherat j. 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: bertherat j. Cancer Res. 2006 Dec 15;66(24):11571-5. doi: 10.1158/0008-5472.CAN-06-2914. Cancer Res. 2006. PMID: 17178847
Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly: mutations are found in a subset of young patients with macroadenomas.
Cazabat L, Libè R, Perlemoine K, René-Corail F, Burnichon N, Gimenez-Roqueplo AP, Dupasquier-Fediaevsky L, Bertagna X, Clauser E, Chanson P, Bertherat J, Raffin-Sanson ML. Cazabat L, et al. Among authors: bertherat j. Eur J Endocrinol. 2007 Jul;157(1):1-8. doi: 10.1530/EJE-07-0181. Eur J Endocrinol. 2007. PMID: 17609395
478 results