메뉴 건너뛰기




Volumn 41, Issue , 2013, Pages 50-62

Carney complex

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP;

EID: 84877935803     PISSN: 03013073     EISSN: 16623762     Source Type: Book Series    
DOI: 10.1159/000345669     Document Type: Article
Times cited : (31)

References (25)
  • 2
    • 0034853288 scopus 로고    scopus 로고
    • Clinical and molecular features of the Carney complex: Diagnostic criteria and recommendations for patient evaluation
    • Stratakis CA, Kirschner LS, Carney JA: Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab 2001; 86: 4041-4046.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 4041-4046
    • Stratakis, C.A.1    Kirschner, L.S.2    Carney, J.A.3
  • 3
    • 66749184725 scopus 로고    scopus 로고
    • 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, et al: Mutations in regulatory subunit type 1A of cyclic adenosine 5 '-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. J Clin Endocrinol Metab 2009; 94: 2085-2091.
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 2085-2091
    • Bertherat, J.1    Horvath, A.2    Groussin, L.3    Grabar, S.4    Boikos, S.5    Cazabat, L.6
  • 5
    • 84856810146 scopus 로고    scopus 로고
    • Adrenocortical cancer in Carney complex: A paradigm of endocrine tumor progression or an association of genetic predisposing factors?
    • Bertherat J: Adrenocortical cancer in Carney complex: a paradigm of endocrine tumor progression or an association of genetic predisposing factors? J Clin Endocrinol Metab 2012; 97: 387-390.
    • (2012) J Clin Endocrinol Metab , vol.97 , pp. 387-390
    • Bertherat, J.1
  • 6
    • 77955324701 scopus 로고    scopus 로고
    • PRKAR1A and the evolution of pituitary tumors
    • Kirschner LS: PRKAR1A and the evolution of pituitary tumors. Mol Cell Endocrinol 2010; 326: 3-7.
    • (2010) Mol Cell Endocrinol , vol.326 , pp. 3-7
    • Kirschner, L.S.1
  • 7
    • 84862670880 scopus 로고    scopus 로고
    • Thyroid-specific ablation of the Carney complex gene, PRKAR1A, results in hyperthyroidism and follicular thyroid cancer
    • Pringle DR, Yin Z, Lee AA, Manchanda PK, Yu L, Parlow AF, et al: Thyroid-specific ablation of the Carney complex gene, PRKAR1A, results in hyperthyroidism and follicular thyroid cancer. Endocr Relat Cancer 2012; 19: 435-446.
    • (2012) Endocr Relat Cancer , vol.19 , pp. 435-446
    • Pringle, D.R.1    Yin, Z.2    Lee, A.A.3    Manchanda, P.K.4    Yu, L.5    Parlow, A.F.6
  • 8
    • 33748771843 scopus 로고    scopus 로고
    • Haploinsufficiency at the protein kinase A RI alpha gene locus leads to fertility defects in male mice and men
    • Burton KA, McDermott DA, Wilkes D, Poulsen MN, Nolan MA, Goldstein M, et al: Haploinsufficiency at the protein kinase A RI alpha gene locus leads to fertility defects in male mice and men. Mol Endocrinol 2006; 20: 2504-2513.
    • (2006) Mol Endocrinol , vol.20 , pp. 2504-2513
    • Burton, K.A.1    McDermott, D.A.2    Wilkes, D.3    Poulsen, M.N.4    Nolan, M.A.5    Goldstein, M.6
  • 11
    • 0033812849 scopus 로고    scopus 로고
    • 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, et al: Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet 2000; 26: 89-92.
    • (2000) Nat Genet , vol.26 , pp. 89-92
    • Kirschner, L.S.1    Carney, J.A.2    Pack, S.D.3    Taymans, S.E.4    Giatzakis, C.5    Cho, Y.S.6
  • 12
    • 18544406892 scopus 로고    scopus 로고
    • Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex
    • Casey M, Vaughan CJ, He J, Hatcher CJ, Winter JM, Weremowicz S, et al: Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex. J Clin Invest 2000; 106:R31-R38.
    • (2000) J Clin Invest , vol.106 , pp. R31-R38
    • Casey, M.1    Vaughan, C.J.2    He, J.3    Hatcher, C.J.4    Winter, J.M.5    Weremowicz, S.6
  • 14
    • 77950427180 scopus 로고    scopus 로고
    • 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, et al: Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update. Hum Mutat 2010; 31: 369-379.
    • (2010) Hum Mutat , vol.31 , pp. 369-379
    • Horvath, A.1    Bertherat, J.2    Groussin, L.3    Guillaud-Bataille, M.4    Tsang, K.5    Cazabat, L.6
  • 15
    • 84858054011 scopus 로고    scopus 로고
    • In vitro studies of novel PRKAR1A mutants that extend the predicted RIα protein sequence into the 3'-untranslated open reading frame: Proteasomal degradation leads to RIα haploinsufficiency and Carney complex
    • Patronas Y, Horvath A, Greene E, Tsang K, Bimpaki E, Haran M, et al: In vitro studies of novel PRKAR1A mutants that extend the predicted RIα protein sequence into the 3'-untranslated open reading frame: proteasomal degradation leads to RIα haploinsufficiency and Carney complex. J Clin Endocrinol Metab 2012; 97:E496-E502.
    • (2012) J Clin Endocrinol Metab , vol.97 , pp. E496-E502
    • Patronas, Y.1    Horvath, A.2    Greene, E.3    Tsang, K.4    Bimpaki, E.5    Haran, M.6
  • 16
    • 33745548423 scopus 로고    scopus 로고
    • 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, et al: A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nat Genet 2006; 38: 794-800.
    • (2006) Nat Genet , vol.38 , pp. 794-800
    • Horvath, A.1    Boikos, S.2    Giatzakis, C.3    Robinson-White, A.4    Groussin, L.5    Griffin, K.J.6
  • 17
    • 39049101528 scopus 로고    scopus 로고
    • Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia
    • Horvath A, Mericq V, Stratakis CA: Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia. N Engl J Med 2008; 358: 750-752.
    • (2008) N Engl J Med , vol.358 , pp. 750-752
    • Horvath, A.1    Mericq, V.2    Stratakis, C.A.3
  • 18
    • 78650898282 scopus 로고    scopus 로고
    • 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, et al: 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. J Clin Endocrinol Metab 2011; 96:E208-E214.
    • (2011) J Clin Endocrinol Metab , vol.96 , pp. E208-E214
    • Libé, R.1    Horvath, A.2    Vezzosi, D.3    Fratticci, A.4    Coste, J.5    Perlemoine, K.6
  • 20
    • 19644364776 scopus 로고    scopus 로고
    • 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, et al: A mouse model for the Carney complex tumor syndrome develops neoplasia in cyclic AMP-responsive tissues. Cancer Res 2005; 65: 4506-4514.
    • (2005) Cancer Res , vol.65 , pp. 4506-4514
    • Kirschner, L.S.1    Kusewitt, D.F.2    Matyakhina, L.3    Towns, I.I.W.H.4    Carney, J.A.5    Westphal, H.6
  • 21
    • 0037178847 scopus 로고    scopus 로고
    • Increased basal cAMP-dependent protein kinase activity inhibits the formation of mesoderm-derived structures in the developing mouse embryo
    • Amieux PS, Howe DG, Knickerbocker H, Lee DC, Su T, Laszlo GS, et al: Increased basal cAMP-dependent protein kinase activity inhibits the formation of mesoderm-derived structures in the developing mouse embryo. J Biol Chem 2002; 277: 27294-27304.
    • (2002) J Biol Chem , vol.277 , pp. 27294-27304
    • Amieux, P.S.1    Howe, D.G.2    Knickerbocker, H.3    Lee, D.C.4    Su, T.5    Laszlo, G.S.6
  • 22
    • 38749106141 scopus 로고    scopus 로고
    • Pituitary-specific knockout of the Carney complex gene Prkar1a leads to pituitary tumorigenesis
    • Yin Z, Williams-Simons L, Parlow AF, Asa S, Kirschner LS: Pituitary-specific knockout of the Carney complex gene Prkar1a leads to pituitary tumorigenesis. Mol Endocrinol 2008; 22: 380-387.
    • (2008) Mol Endocrinol , vol.22 , pp. 380-387
    • Yin, Z.1    Williams-Simons, L.2    Parlow, A.F.3    Asa, S.4    Kirschner, L.S.5
  • 23
    • 41649121002 scopus 로고    scopus 로고
    • Heart-specific ablation of Prkar1a causes failure of heart development and myxomagenesis
    • Yin Z, Jones GN, Towns WH 2nd, Zhang X, Abel ED, Binkley PF, et al: Heart-specific ablation of Prkar1a causes failure of heart development and myxomagenesis. Circulation 2008; 117: 1414-1422.
    • (2008) Circulation , vol.117 , pp. 1414-1422
    • Yin, Z.1    Jones, G.N.2    Towns, I.I.W.H.3    Zhang, X.4    Abel, E.D.5    Binkley, P.F.6
  • 24
    • 55849135795 scopus 로고    scopus 로고
    • Tissue-specific ablation of Prkar1a causes schwannomas by suppressing neurofibromatosis protein production
    • Jones GN, Tep C, Towns WH 2nd, Mihai G, Tonks ID, Kay GF, et al: Tissue-specific ablation of Prkar1a causes schwannomas by suppressing neurofibromatosis protein production. Neoplasia 2008; 10: 1213-1221.
    • (2008) Neoplasia , vol.10 , pp. 1213-1221
    • Jones, G.N.1    Tep, C.2    Towns, I.I.W.H.3    Mihai, G.4    Tonks, I.D.5    Kay, G.F.6
  • 25
    • 79952070409 scopus 로고    scopus 로고
    • How does cAMP/protein kinase A signaling lead to tumors in the adrenal cortex and other tissues?
    • Almeida MQ, Stratakis CA: How does cAMP/protein kinase A signaling lead to tumors in the adrenal cortex and other tissues? Mol Cell Endocrinol 2011; 336: 162-168.
    • (2011) Mol Cell Endocrinol , vol.336 , pp. 162-168
    • Almeida, M.Q.1    Stratakis, C.A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.