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274 results

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Page 1
Large deletions of the PRKAR1A gene in Carney complex.
Horvath A, Bossis I, Giatzakis C, Levine E, Weinberg F, Meoli E, Robinson-White A, Siegel J, Soni P, Groussin L, Matyakhina L, Verma S, Remmers E, Nesterova M, Carney JA, Bertherat J, Stratakis CA. Horvath A, et al. Among authors: carney ja. Clin Cancer Res. 2008 Jan 15;14(2):388-95. doi: 10.1158/1078-0432.CCR-07-1155. Clin Cancer Res. 2008. PMID: 18223213
A transgenic mouse bearing an antisense construct of regulatory subunit type 1A of protein kinase A develops endocrine and other tumours: comparison with Carney complex and other PRKAR1A induced lesions.
Griffin KJ, Kirschner LS, Matyakhina L, Stergiopoulos SG, Robinson-White A, Lenherr SM, Weinberg FD, Claflin ES, Batista D, Bourdeau I, Voutetakis A, Sandrini F, Meoli EM, Bauer AJ, Cho-Chung YS, Bornstein SR, Carney JA, Stratakis CA. Griffin KJ, et al. Among authors: carney ja. J Med Genet. 2004 Dec;41(12):923-31. doi: 10.1136/jmg.2004.028043. J Med Genet. 2004. PMID: 15591278 Free PMC article.
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: carney ja. 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.
Eyelid myxoma in Carney complex without PRKAR1A allelic loss.
Tsilou ET, Chan CC, Sandrini F, Rubin BI, Shen DF, Carney JA, Kaiser-Kupfer M, Stratakis CA. Tsilou ET, et al. Among authors: carney ja. Am J Med Genet A. 2004 Nov 1;130A(4):395-7. doi: 10.1002/ajmg.a.30279. Am J Med Genet A. 2004. PMID: 15368482
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: carney ja. Cancer Res. 2006 Dec 15;66(24):11571-5. doi: 10.1158/0008-5472.CAN-06-2914. Cancer Res. 2006. PMID: 17178847
Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes.
Bertherat J, Horvath A, Groussin L, Grabar S, Boikos S, Cazabat L, Libe R, René-Corail F, Stergiopoulos S, Bourdeau I, Bei T, Clauser E, Calender A, Kirschner LS, Bertagna X, Carney JA, Stratakis CA. Bertherat J, et al. Among authors: carney ja. J Clin Endocrinol Metab. 2009 Jun;94(6):2085-91. doi: 10.1210/jc.2008-2333. Epub 2009 Mar 17. J Clin Endocrinol Metab. 2009. PMID: 19293268 Free PMC article.
274 results