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Items: 1 to 20 of 38

1.

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.

2.

Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia.

Horvath A, Mericq V, Stratakis CA.

N Engl J Med. 2008 Feb 14;358(7):750-2. doi: 10.1056/NEJMc0706182. No abstract available.

3.

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
4.

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.

5.

Male infertility as a component of Carney complex.

Wieacker P, Stratakis CA, Horvath A, Klose S, Nickel I, Buhtz P, Muschke P.

Andrologia. 2007 Oct;39(5):196-7. Erratum in: Andrologia. 2009 Jun;41(3):202. Buhtz, P [added].

PMID:
17714219
7.

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.

Cancer Res. 2006 Dec 15;66(24):11571-5.

8.

Carney complex: the first 20 years.

Boikos SA, Stratakis CA.

Curr Opin Oncol. 2007 Jan;19(1):24-9. Review.

PMID:
17133108
9.

PRKAR1A inactivation leads to increased proliferation and decreased apoptosis in human B lymphocytes.

Robinson-White AJ, Leitner WW, Aleem E, Kaldis P, Bossis I, Stratakis CA.

Cancer Res. 2006 Nov 1;66(21):10603-12.

10.

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
11.

Autoantibody cancer biomarker: extracellular protein kinase A.

Nesterova MV, Johnson N, Cheadle C, Bates SE, Mani S, Stratakis CA, Khan IU, Gupta RK, Cho-Chung YS.

Cancer Res. 2006 Sep 15;66(18):8971-4. Erratum in: Cancer Res. 2006 Nov 1;66(21):10637. Kahn, Islam [corrected to Khan, Islam U].

12.

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
13.

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.

Nat Genet. 2006 Jul;38(7):794-800. Epub 2006 Jun 11.

PMID:
16767104
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.

15.
16.

A Japanese case of familial cardiac myxoma associated with a mutation of the PRKAR1alpha gene.

Kojima S, Sumiyoshi M, Watanabe Y, Suwa S, Matsumoto M, Nakata Y, Daida H.

Intern Med. 2005 Jun;44(6):607-10.

17.

A mouse model for the Carney complex tumor syndrome develops neoplasia in cyclic AMP-responsive tissues.

Kirschner LS, Kusewitt DF, Matyakhina L, Towns WH 2nd, Carney JA, Westphal H, Stratakis CA.

Cancer Res. 2005 Jun 1;65(11):4506-14.

18.

Down-regulation of regulatory subunit type 1A of protein kinase A leads to endocrine and other tumors.

Griffin KJ, Kirschner LS, Matyakhina L, Stergiopoulos S, Robinson-White A, Lenherr S, Weinberg FD, Claflin E, Meoli E, Cho-Chung YS, Stratakis CA.

Cancer Res. 2004 Dec 15;64(24):8811-5.

19.

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.

20.

Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice.

Veugelers M, Wilkes D, Burton K, McDermott DA, Song Y, Goldstein MM, La Perle K, Vaughan CJ, O'Hagan A, Bennett KR, Meyer BJ, Legius E, Karttunen M, Norio R, Kaariainen H, Lavyne M, Neau JP, Richter G, Kirali K, Farnsworth A, Stapleton K, Morelli P, Takanashi Y, Bamforth JS, Eitelberger F, Noszian I, Manfroi W, Powers J, Mochizuki Y, Imai T, Ko GT, Driscoll DA, Goldmuntz E, Edelberg JM, Collins A, Eccles D, Irvine AD, McKnight GS, Basson CT.

Proc Natl Acad Sci U S A. 2004 Sep 28;101(39):14222-7. Epub 2004 Sep 15.

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