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Results: 1 to 20 of 26

1.

β-catenin activation is associated with specific clinical and pathologic characteristics and a poor outcome in adrenocortical carcinoma.

Gaujoux S, Grabar S, Fassnacht M, Ragazzon B, Launay P, Libé R, Chokri I, Audebourg A, Royer B, Sbiera S, Vacher-Lavenu MC, Dousset B, Bertagna X, Allolio B, Bertherat J, Tissier F.

Clin Cancer Res. 2011 Jan 15;17(2):328-36. doi: 10.1158/1078-0432.CCR-10-2006. Epub 2010 Nov 18.

PMID:
21088256
[PubMed - indexed for MEDLINE]
Free Article
2.

Wnt/β-catenin pathway activation in adrenocortical adenomas is frequently due to somatic CTNNB1-activating mutations, which are associated with larger and nonsecreting tumors: a study in cortisol-secreting and -nonsecreting tumors.

Bonnet S, Gaujoux S, Launay P, Baudry C, Chokri I, Ragazzon B, Libé R, René-Corail F, Audebourg A, Vacher-Lavenu MC, Groussin L, Bertagna X, Dousset B, Bertherat J, Tissier F.

J Clin Endocrinol Metab. 2011 Feb;96(2):E419-26. doi: 10.1210/jc.2010-1885. Epub 2010 Nov 17.

PMID:
21084400
[PubMed - indexed for MEDLINE]
3.

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.

Hum Mutat. 2010 Apr;31(4):369-79. doi: 10.1002/humu.21178.

PMID:
20358582
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families.

Pereira AM, Hes FJ, Horvath A, Woortman S, Greene E, Bimpaki E, Alatsatianos A, Boikos S, Smit JW, Romijn JA, Nesterova M, Stratakis CA.

J Clin Endocrinol Metab. 2010 Jan;95(1):338-42. doi: 10.1210/jc.2009-0993. Epub 2009 Nov 13.

PMID:
19915019
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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.

J Clin Endocrinol Metab. 2009 Jun;94(6):2085-91. doi: 10.1210/jc.2008-2333. Epub 2009 Mar 17.

PMID:
19293268
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

New genes and/or molecular pathways associated with adrenal hyperplasias and related adrenocortical tumors.

Stratakis CA.

Mol Cell Endocrinol. 2009 Mar 5;300(1-2):152-7. doi: 10.1016/j.mce.2008.11.010. Epub 2008 Nov 21. Review.

PMID:
19063937
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Wnt/beta-catenin and 3',5'-cyclic adenosine 5'-monophosphate/protein kinase A signaling pathways alterations and somatic beta-catenin gene mutations in the progression of adrenocortical tumors.

Gaujoux S, Tissier F, Groussin L, Libé R, Ragazzon B, Launay P, Audebourg A, Dousset B, Bertagna X, Bertherat J.

J Clin Endocrinol Metab. 2008 Oct;93(10):4135-40. doi: 10.1210/jc.2008-0631. Epub 2008 Jul 22.

PMID:
18647815
[PubMed - indexed for MEDLINE]
8.

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.

Cancer Res. 2008 May 1;68(9):3133-41. doi: 10.1158/0008-5472.CAN-08-0064.

PMID:
18451138
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Detection of somatic beta-catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD).

Tadjine M, Lampron A, Ouadi L, Horvath A, Stratakis CA, Bourdeau I.

Clin Endocrinol (Oxf). 2008 Sep;69(3):367-73. doi: 10.1111/j.1365-2265.2008.03273.x. Epub 2008 Apr 14.

PMID:
18419788
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay.

Greene EL, Horvath AD, Nesterova M, Giatzakis C, Bossis I, Stratakis CA.

Hum Mutat. 2008 May;29(5):633-9. doi: 10.1002/humu.20688.

PMID:
18241045
[PubMed - indexed for MEDLINE]
11.

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.

Clin Cancer Res. 2008 Jan 15;14(2):388-95. doi: 10.1158/1078-0432.CCR-07-1155.

PMID:
18223213
[PubMed - indexed for MEDLINE]
Free Article
12.

PRKAR1A Mutations and protein kinase A interactions with other signaling pathways in the adrenal cortex.

Robinson-White A, Meoli E, Stergiopoulos S, Horvath A, Boikos S, Bossis I, Stratakis CA.

J Clin Endocrinol Metab. 2006 Jun;91(6):2380-8. Epub 2006 Mar 28.

PMID:
16569736
[PubMed - indexed for MEDLINE]
13.

Clinical review: Adrenocortical carcinoma: clinical update.

Allolio B, Fassnacht M.

J Clin Endocrinol Metab. 2006 Jun;91(6):2027-37. Epub 2006 Mar 21. Review.

PMID:
16551738
[PubMed - indexed for MEDLINE]
14.

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.

J Clin Endocrinol Metab. 2006 May;91(5):1943-9. Epub 2006 Feb 7.

PMID:
16464939
[PubMed - indexed for MEDLINE]
15.

Mapping intersubunit interactions of the regulatory subunit (RIalpha) in the type I holoenzyme of protein kinase A by amide hydrogen/deuterium exchange mass spectrometry (DXMS).

Hamuro Y, Anand GS, Kim JS, Juliano C, Stranz DD, Taylor SS, Woods VL Jr.

J Mol Biol. 2004 Jul 23;340(5):1185-96.

PMID:
15236976
[PubMed - indexed for MEDLINE]
16.

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.

Cancer Res. 2003 Sep 1;63(17):5308-19.

PMID:
14500362
[PubMed - indexed for MEDLINE]
Free Article
17.

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.

Am J Hum Genet. 2002 Dec;71(6):1433-42. Epub 2002 Nov 6.

PMID:
12424709
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation.

Stratakis CA, Kirschner LS, Carney JA.

J Clin Endocrinol Metab. 2001 Sep;86(9):4041-6. Review.

PMID:
11549623
[PubMed - indexed for MEDLINE]
19.

Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex.

Kirschner LS, Sandrini F, Monbo J, Lin JP, Carney JA, Stratakis CA.

Hum Mol Genet. 2000 Dec 12;9(20):3037-46.

PMID:
11115848
[PubMed - indexed for MEDLINE]
Free Article
20.

Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.

Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, Cho-Chung YS, Stratakis CA.

Nat Genet. 2000 Sep;26(1):89-92.

PMID:
10973256
[PubMed - indexed for MEDLINE]

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