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Journal Abstract Search

314 related items for PubMed ID: 16767104

  • 1. 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. PubMed ID: 16767104
    [Abstract] [Full Text] [Related]

  • 2. 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. PubMed ID: 17178847
    [Abstract] [Full Text] [Related]

  • 3. Phosphodiesterase 11A expression in the adrenal cortex, primary pigmented nodular adrenocortical disease, and other corticotropin-independent lesions.
    Boikos SA, Horvath A, Heyerdahl S, Stein E, Robinson-White A, Bossis I, Bertherat J, Carney JA, Stratakis CA.
    Horm Metab Res; 2008 May 15; 40(5):347-53. PubMed ID: 18491255
    [Abstract] [Full Text] [Related]

  • 4. Familial micronodular adrenocortical disease, Cushing syndrome, and mutations of the gene encoding phosphodiesterase 11A4 (PDE11A).
    Carney JA, Gaillard RC, Bertherat J, Stratakis CA.
    Am J Surg Pathol; 2010 Apr 15; 34(4):547-55. PubMed ID: 20351491
    [Abstract] [Full Text] [Related]

  • 5. Abnormalities of cAMP signaling are present in adrenocortical lesions associated with ACTH-independent Cushing syndrome despite the absence of mutations in known genes.
    Bimpaki EI, Nesterova M, Stratakis CA.
    Eur J Endocrinol; 2009 Jul 15; 161(1):153-61. PubMed ID: 19429701
    [Abstract] [Full Text] [Related]

  • 6. Phosphodiesterases and adrenal Cushing in mice and humans.
    Szarek E, Stratakis CA.
    Horm Metab Res; 2014 Nov 15; 46(12):863-8. PubMed ID: 25232906
    [Abstract] [Full Text] [Related]

  • 7. Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors.
    Libé R, Fratticci A, Coste J, Tissier F, Horvath A, Ragazzon B, Rene-Corail F, Groussin L, Bertagna X, Raffin-Sanson ML, Stratakis CA, Bertherat J.
    Clin Cancer Res; 2008 Jun 15; 14(12):4016-24. PubMed ID: 18559625
    [Abstract] [Full Text] [Related]

  • 8. Phosphodiesterase 11A (PDE11A) gene defects in patients with acth-independent macronodular adrenal hyperplasia (AIMAH): functional variants may contribute to genetic susceptibility of bilateral adrenal tumors.
    Vezzosi D, Libé R, Baudry C, Rizk-Rabin M, Horvath A, Levy I, René-Corail F, Ragazzon B, Stratakis CA, Vandecasteele G, Bertherat J.
    J Clin Endocrinol Metab; 2012 Nov 15; 97(11):E2063-9. PubMed ID: 22996146
    [Abstract] [Full Text] [Related]

  • 9. A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex.
    Horvath A, Giatzakis C, Tsang K, Greene E, Osorio P, Boikos S, Libè R, Patronas Y, Robinson-White A, Remmers E, Bertherat J, Nesterova M, Stratakis CA.
    Eur J Hum Genet; 2008 Oct 15; 16(10):1245-53. PubMed ID: 18431404
    [Abstract] [Full Text] [Related]

  • 10. 17q22-24 chromosomal losses and alterations of protein kinase a subunit expression and activity in adrenocorticotropin-independent macronodular adrenal hyperplasia.
    Bourdeau I, Matyakhina L, Stergiopoulos SG, Sandrini F, Boikos S, Stratakis CA.
    J Clin Endocrinol Metab; 2006 Sep 15; 91(9):3626-32. PubMed ID: 16772351
    [Abstract] [Full Text] [Related]

  • 11. Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype.
    Libé R, Horvath A, Vezzosi D, Fratticci A, Coste J, Perlemoine K, Ragazzon B, Guillaud-Bataille M, Groussin L, Clauser E, Raffin-Sanson ML, Siegel J, Moran J, Drori-Herishanu L, Faucz FR, Lodish M, Nesterova M, Bertagna X, Bertherat J, Stratakis CA.
    J Clin Endocrinol Metab; 2011 Jan 15; 96(1):E208-14. PubMed ID: 21047926
    [Abstract] [Full Text] [Related]

  • 12. Alterations of Phosphodiesterases in Adrenocortical Tumors.
    Hannah-Shmouni F, Faucz FR, Stratakis CA.
    Front Endocrinol (Lausanne); 2016 Jan 15; 7():111. PubMed ID: 27625633
    [Abstract] [Full Text] [Related]

  • 13. Functional characteristics and research trends of PDE11A in human diseases (Review).
    Kong G, Lee H, Vo TT, Juang U, Kwon SH, Park J, Park J, Kim SH.
    Mol Med Rep; 2022 Oct 15; 26(4):. PubMed ID: 35929507
    [Abstract] [Full Text] [Related]

  • 14. A phosphodiesterase 11 (Pde11a) knockout mouse expressed functional but reduced Pde11a: Phenotype and impact on adrenocortical function.
    Levy I, Szarek E, Maria AG, Starrost M, De La Luz Sierra M, Faucz FR, Stratakis CA.
    Mol Cell Endocrinol; 2021 Jan 15; 520():111071. PubMed ID: 33127481
    [Abstract] [Full Text] [Related]

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  • 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 01; 63(17):5308-19. PubMed ID: 14500362
    [Abstract] [Full Text] [Related]

  • 17. Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predisposition.
    Azevedo MF, Horvath A, Bornstein ER, Almeida MQ, Xekouki P, Faucz FR, Gourgari E, Nadella K, Remmers EF, Quezado M, de Alexandre RB, Kratz CP, Nesterova M, Greene MH, Stratakis CA.
    J Clin Endocrinol Metab; 2013 Aug 01; 98(8):E1393-400. PubMed ID: 23771924
    [Abstract] [Full Text] [Related]

  • 18. New genes and/or molecular pathways associated with adrenal hyperplasias and related adrenocortical tumors.
    Stratakis CA.
    Mol Cell Endocrinol; 2009 Mar 05; 300(1-2):152-7. PubMed ID: 19063937
    [Abstract] [Full Text] [Related]

  • 19. Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation.
    Matyakhina L, Freedman RJ, Bourdeau I, Wei MH, Stergiopoulos SG, Chidakel A, Walther M, Abu-Asab M, Tsokos M, Keil M, Toro J, Linehan WM, Stratakis CA.
    J Clin Endocrinol Metab; 2005 Jun 05; 90(6):3773-9. PubMed ID: 15741255
    [Abstract] [Full Text] [Related]

  • 20. Update of Genetic and Molecular Causes of Adrenocortical Hyperplasias Causing Cushing Syndrome.
    Berthon A, Bertherat J.
    Horm Metab Res; 2020 Aug 05; 52(8):598-606. PubMed ID: 32097969
    [Abstract] [Full Text] [Related]

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