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Results: 1 to 20 of 207

1.

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
3.

PRKAR1A mutations in primary pigmented nodular adrenocortical disease.

Cazabat L, Ragazzon B, Groussin L, Bertherat J.

Pituitary. 2006;9(3):211-9. Review.

PMID:
17036196
[PubMed - indexed for MEDLINE]
4.

Inactivation of the Carney complex gene 1 (protein kinase A regulatory subunit 1A) inhibits SMAD3 expression and TGF beta-stimulated apoptosis in adrenocortical cells.

Ragazzon B, Cazabat L, Rizk-Rabin M, Assie G, Groussin L, Fierrard H, Perlemoine K, Martinez A, Bertherat J.

Cancer Res. 2009 Sep 15;69(18):7278-84. doi: 10.1158/0008-5472.CAN-09-1601. Epub 2009 Sep 8.

PMID:
19738044
[PubMed - indexed for MEDLINE]
Free Article
5.

Human tumors associated with Carney complex and germline PRKAR1A mutations: a protein kinase A disease!

Stergiopoulos SG, Stratakis CA.

FEBS Lett. 2003 Jul 3;546(1):59-64. Review.

PMID:
12829237
[PubMed - indexed for MEDLINE]
6.

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
7.

Protein kinase-A activity in PRKAR1A-mutant cells, and regulation of mitogen-activated protein kinases ERK1/2.

Robinson-White A, Hundley TR, Shiferaw M, Bertherat J, Sandrini F, Stratakis CA.

Hum Mol Genet. 2003 Jul 1;12(13):1475-84.

PMID:
12812976
[PubMed - indexed for MEDLINE]
Free Article
8.

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
9.

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.

J Med Genet. 2004 Dec;41(12):923-31.

PMID:
15591278
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Protein kinase A and its role in human neoplasia: the Carney complex paradigm.

Bossis I, Voutetakis A, Bei T, Sandrini F, Griffin KJ, Stratakis CA.

Endocr Relat Cancer. 2004 Jun;11(2):265-80. Review.

PMID:
15163302
[PubMed - indexed for MEDLINE]
Free Article
11.

Evidence that PKA activity is constitutively activated in human GH-secreting adenoma cells in a patient with Carney complex harbouring a PRKAR1A mutation.

Takano K, Yasufuku-Takano J, Morita K, Mori S, Takei M, Osamura RY, Teramoto A, Fujita T.

Clin Endocrinol (Oxf). 2009 May;70(5):769-75. doi: 10.1111/j.1365-2265.2008.03457.x. Epub 2008 Oct 21.

PMID:
19178533
[PubMed - indexed for MEDLINE]
12.

Molecular cloning, chromosomal localization of human peripheral-type benzodiazepine receptor and PKA regulatory subunit type 1A (PRKAR1A)-associated protein PAP7, and studies in PRKAR1A mutant cells and tissues.

Liu J, Matyakhina L, Han Z, Sandrini F, Bei T, Stratakis CA, Papadopoulos V.

FASEB J. 2003 Jun;17(9):1189-91. Epub 2003 Apr 8.

PMID:
12692076
[PubMed - indexed for MEDLINE]
Free Article
13.

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]
14.

Clinical and molecular genetics of primary pigmented nodular adrenocortical disease.

Sandrini F, Stratakis C.

Arq Bras Endocrinol Metabol. 2004 Oct;48(5):637-41. Epub 2005 Mar 7. Review.

PMID:
15761532
[PubMed - indexed for MEDLINE]
Free Article
15.

Clinical and molecular genetics of Carney complex.

Sandrini F, Stratakis C.

Mol Genet Metab. 2003 Feb;78(2):83-92. Review.

PMID:
12666684
[PubMed - indexed for MEDLINE]
16.

Depletion of type IA regulatory subunit (RIalpha) of protein kinase A (PKA) in mammalian cells and tissues activates mTOR and causes autophagic deficiency.

Mavrakis M, Lippincott-Schwartz J, Stratakis CA, Bossis I.

Hum Mol Genet. 2006 Oct 1;15(19):2962-71. Epub 2006 Sep 8.

PMID:
16963469
[PubMed - indexed for MEDLINE]
Free Article
17.

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]
18.

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]
19.

Mutational analysis of PRKAR1A and Gs(alpha) in sporadic adrenocortical tumors.

Libé R, Mantovani G, Bondioni S, Lania AG, Pedroni C, Beck-Peccoz P, Spada A.

Exp Clin Endocrinol Diabetes. 2005 May;113(5):248-51.

PMID:
15926108
[PubMed - indexed for MEDLINE]
20.

A large family with Carney complex caused by the S147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancer.

Anselmo J, Medeiros S, Carneiro V, Greene E, Levy I, Nesterova M, Lyssikatos C, Horvath A, Carney JA, Stratakis CA.

J Clin Endocrinol Metab. 2012 Feb;97(2):351-9. doi: 10.1210/jc.2011-2244. Epub 2011 Nov 23.

PMID:
22112814
[PubMed - indexed for MEDLINE]
Free PMC Article
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