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Journal Abstract Search

234 related items for PubMed ID: 18223213

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  • 3. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit (PRKAR1A) in patients with the "complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas" (Carney complex).
    Stratakis CA.
    Ann N Y Acad Sci; 2002 Jun; 968():3-21. PubMed ID: 12119264
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  • 5. Carney complex.
    Espiard S, Bertherat J.
    Front Horm Res; 2013 Jun; 41():50-62. PubMed ID: 23652670
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  • 7. Melanotic nonpsammomatous trigeminal schwannoma as the first manifestation of Carney complex: case report.
    Carrasco CA, Rojas-Salazar D, Chiorino R, Venega JC, Wohllk N.
    Neurosurgery; 2006 Dec; 59(6):E1334-5; discussion E1335. PubMed ID: 17277668
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  • 8. Case report of familial Carney complex due to novel frameshift mutation c.597del C (p.Phe200LeufsX6) in PRKAR1A.
    Sasaki A, Horikawa Y, Suwa T, Enya M, Kawachi S, Takeda J.
    Mol Genet Metab; 2008 Nov; 95(3):182-7. PubMed ID: 18760947
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  • 9. Fibrolamellar carcinoma in the Carney complex: PRKAR1A loss instead of the classic DNAJB1-PRKACA fusion.
    Graham RP, Lackner C, Terracciano L, González-Cantú Y, Maleszewski JJ, Greipp PT, Simon SM, Torbenson MS.
    Hepatology; 2018 Oct; 68(4):1441-1447. PubMed ID: 29222914
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  • 14. A Novel Inherited Mutation in PRKAR1A Abrogates PreRNA Splicing in a Carney Complex Family.
    Sun Y, Chen X, Sun J, Wen X, Liu X, Zhang Y, Hoffman AR, Hu JF, Gao Y.
    Can J Cardiol; 2015 Nov; 31(11):1393-401. PubMed ID: 26416542
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  • 15. Germline deletion and a somatic mutation of the PRKAR1A gene in a Carney complex-related pituitary adenoma.
    Iwata T, Tamanaha T, Koezuka R, Tochiya M, Makino H, Kishimoto I, Mizusawa N, Ono S, Inoshita N, Yamada S, Shimatsu A, Yoshimoto K.
    Eur J Endocrinol; 2015 Jan; 172(1):K5-10. PubMed ID: 25336503
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  • 16. Systematic screening for PRKAR1A gene rearrangement in Carney complex: identification and functional characterization of a new in-frame deletion.
    Bataille MG, Rhayem Y, Sousa SB, Libé R, Dambrun M, Chevalier C, Nigou M, Auzan C, North MO, Sa J, Gomes L, Salpea P, Horvath A, Stratakis CA, Hamzaoui N, Bertherat J, Clauser E.
    Eur J Endocrinol; 2014 Jan; 170(1):151-160. PubMed ID: 24144965
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  • 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. PubMed ID: 10973256
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  • 18. 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. PubMed ID: 18241045
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  • 19. 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. PubMed ID: 19178533
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  • 20. [Absence of PRKAR1A loss of heterozygosity in laser-captured microdissected pigmented nodular adrenocortical tissue from a patient with Carney complex caused by the novel nonsense mutation p.Y21X].
    Almeida MQ, Brito LP, Domenice S, Costa MH, Pinto EM, Osório CA, Latronico AC, Mendonca BB, Fragoso MC.
    Arq Bras Endocrinol Metabol; 2008 Nov; 52(8):1257-63. PubMed ID: 19169478
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