메뉴 건너뛰기




Volumn 71, Issue 6, 2010, Pages 486-493

Carney complex: Clinical and genetic 2010 update;Le complexe de Carney en 2010

Author keywords

Cardiac myxoma; Carney complex; Cutaneous lentiginosis; Primary pigmented nodular adrenocortical disease; PRKAR1A gene mutation

Indexed keywords

CYCLIC AMP DEPENDENT PROTEIN KINASE REGULATORY SUBUNIT IALPHA; DEXAMETHASONE; SOMATOSTATIN DERIVATIVE;

EID: 78651473464     PISSN: 00034266     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ando.2010.08.002     Document Type: Review
Times cited : (30)

References (56)
  • 1
    • 0022397926 scopus 로고
    • The complex of myxomas, spotty pigmentation, and endocrine overactivity
    • Carney J.A., Gordon H., Carpenter P.C., Shenoy B.V., Go V.L. The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine 1985, 64(4):270-283.
    • (1985) Medicine , vol.64 , Issue.4 , pp. 270-283
    • Carney, J.A.1    Gordon, H.2    Carpenter, P.C.3    Shenoy, B.V.4    Go, V.L.5
  • 2
    • 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(6):2085-2091.
    • (2009) J Clin Endocrinol Metab , vol.94 , Issue.6 , pp. 2085-2091
    • Bertherat, J.1    Horvath, A.2    Groussin, L.3    Grabar, S.4    Boikos, S.5    Cazabat, L.6
  • 3
    • 0034853288 scopus 로고    scopus 로고
    • Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation
    • Stratakis C.A., Kirschner L.S., Carney J.A. Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab 2001, 86(9):4041-4046.
    • (2001) J Clin Endocrinol Metab , vol.86 , Issue.9 , pp. 4041-4046
    • Stratakis, C.A.1    Kirschner, L.S.2    Carney, J.A.3
  • 4
    • 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 L.S., Carney J.A., Pack S.D., Taymans S.E., Giatzakis C., Cho Y.S., 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(1):89-92.
    • (2000) Nat Genet , vol.26 , Issue.1 , 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
  • 5
    • 18544406892 scopus 로고    scopus 로고
    • Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex
    • Casey M., Vaughan C.J., He J., Hatcher C.J., Winter J.M., 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(5):R31-R38.
    • (2000) J Clin Invest , vol.106 , Issue.5
    • Casey, M.1    Vaughan, C.J.2    He, J.3    Hatcher, C.J.4    Winter, J.M.5    Weremowicz, S.6
  • 7
    • 0035413602 scopus 로고    scopus 로고
    • Physiological substrates of cAMP-dependent protein kinase
    • Shabb J.B. Physiological substrates of cAMP-dependent protein kinase. Chem Rev 2001, 101(8):2381-2411.
    • (2001) Chem Rev , vol.101 , Issue.8 , pp. 2381-2411
    • Shabb, J.B.1
  • 8
    • 0030614908 scopus 로고    scopus 로고
    • Compensatory regulation of RI-alpha protein levels in protein kinase A mutant mice
    • Amieux P.S., Cummings D.E., Motamed K., Brandon E.P., Wailes L.A., Le K., et al. Compensatory regulation of RI-alpha protein levels in protein kinase A mutant mice. J Biol Chem 1997, 272(7):3993-3998.
    • (1997) J Biol Chem , vol.272 , Issue.7 , pp. 3993-3998
    • Amieux, P.S.1    Cummings, D.E.2    Motamed, K.3    Brandon, E.P.4    Wailes, L.A.5    Le, K.6
  • 9
    • 0034642302 scopus 로고    scopus 로고
    • Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the Carney complex
    • Kirschner L.S., Sandrini F., Monbo J., Lin J.P., Carney J.A., Stratakis C.A. Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the Carney complex. Hum Mol Genet 2000, 9(20):3037-3046.
    • (2000) Hum Mol Genet , vol.9 , Issue.20 , pp. 3037-3046
    • Kirschner, L.S.1    Sandrini, F.2    Monbo, J.3    Lin, J.P.4    Carney, J.A.5    Stratakis, C.A.6
  • 10
    • 4644277913 scopus 로고    scopus 로고
    • Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and PRKAR1A haploinsufficient mice
    • Veugelers M., Wilkes D., Burton K., McDermott D.A., Song Y., Goldstein M.M., et al. Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and PRKAR1A haploinsufficient mice. Proc National Acad Sci U S A 2004, 101(39):14222-14227.
    • (2004) Proc National Acad Sci U S A , vol.101 , Issue.39 , pp. 14222-14227
    • Veugelers, M.1    Wilkes, D.2    Burton, K.3    McDermott, D.A.4    Song, Y.5    Goldstein, M.M.6
  • 12
    • 0036907704 scopus 로고    scopus 로고
    • 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 L.S., Vincent-Dejean C., Perlemoine K., Jullian E., Delemer B., et al. 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. Am J Hum Genet 2002, 71(6):1433-1442.
    • (2002) Am J Hum Genet , vol.71 , Issue.6 , pp. 1433-1442
    • Groussin, L.1    Kirschner, L.S.2    Vincent-Dejean, C.3    Perlemoine, K.4    Jullian, E.5    Delemer, B.6
  • 13
    • 33646427720 scopus 로고    scopus 로고
    • 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., et al. A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. J Clin Endocrinol Metab 2006, 91(5):1943-1949.
    • (2006) J Clin Endocrinol Metab , vol.91 , Issue.5 , pp. 1943-1949
    • Groussin, L.1    Horvath, A.2    Jullian, E.3    Boikos, S.4    Rene-Corail, F.5    Lefebvre, H.6
  • 14
    • 44849132922 scopus 로고    scopus 로고
    • 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., et al. Protein kinase A effects of an expressed PRKAR1A mutation associated with aggressive tumors. Cancer Res 2008, 68(9):3133-3141.
    • (2008) Cancer Res , vol.68 , Issue.9 , pp. 3133-3141
    • Meoli, E.1    Bossis, I.2    Cazabat, L.3    Mavrakis, M.4    Horvath, A.5    Stergiopoulos, S.6
  • 15
    • 75149196669 scopus 로고    scopus 로고
    • Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families
    • Clin Endocrinol Metab.
    • Pereira AM, Hes FJ, Horvath A, Woortman S, Greene E, Bimpaki E, et al. Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families. Clin Endocrinol Metab 2010;95(1):338-42.
    • (2010) , vol.95 , Issue.1 , pp. 338-42
    • Pereira, A.M.1    Hes, F.J.2    Horvath, A.3    Woortman, S.4    Greene, E.5    Bimpaki, E.6
  • 16
    • 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 P.S., Howe D.G., Knickerbocker H., Lee D.C., Su T., Laszlo G.S., 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(30):27294-27304.
    • (2002) J Biol Chem , vol.277 , Issue.30 , 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
  • 17
    • 19644364776 scopus 로고    scopus 로고
    • A mouse model for the Carney complex tumor syndrome develops neoplasia in cyclic AMP-responsive tissues
    • Kirschner L.S., Kusewitt D.F., Matyakhina L., Towns W.H., 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(11):4506-4514.
    • (2005) Cancer Res , vol.65 , Issue.11 , pp. 4506-4514
    • Kirschner, L.S.1    Kusewitt, D.F.2    Matyakhina, L.3    Towns, W.H.4    Carney, J.A.5    Westphal, H.6
  • 18
    • 10844257526 scopus 로고    scopus 로고
    • Down-regulation of regulatory subunit type 1A of protein kinase A leads to endocrine and other tumors
    • Griffin K.J., Kirschner L.S., Matyakhina L., Stergiopoulos S., Robinson-White A., Lenherr S., et al. Down-regulation of regulatory subunit type 1A of protein kinase A leads to endocrine and other tumors. Cancer Res 2004, 64(24):8811-8815.
    • (2004) Cancer Res , vol.64 , Issue.24 , pp. 8811-8815
    • Griffin, K.J.1    Kirschner, L.S.2    Matyakhina, L.3    Stergiopoulos, S.4    Robinson-White, A.5    Lenherr, S.6
  • 19
    • 19944408615 scopus 로고    scopus 로고
    • 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 K.J., Kirschner L.S., Matyakhina L., Stergiopoulos S.G., Robinson-White A., Lenherr S.M., et al. 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. J Med Genet 2004, 41(12):923-931.
    • (2004) J Med Genet , vol.41 , Issue.12 , pp. 923-931
    • Griffin, K.J.1    Kirschner, L.S.2    Matyakhina, L.3    Stergiopoulos, S.G.4    Robinson-White, A.5    Lenherr, S.M.6
  • 21
    • 0038105075 scopus 로고    scopus 로고
    • Protein kinase A activity in PRKAR1A-mutant cells, and regulation of mitogen-activated protein kinases ERK1/2
    • Robinson-White A., Hundley T.R., Shiferaw M., Bertherat J., Sandrini F., Stratakis C.A. Protein kinase A activity in PRKAR1A-mutant cells, and regulation of mitogen-activated protein kinases ERK1/2. Hum Mol Genet 2003, 12(13):1475-1484.
    • (2003) Hum Mol Genet , vol.12 , Issue.13 , pp. 1475-1484
    • Robinson-White, A.1    Hundley, T.R.2    Shiferaw, M.3    Bertherat, J.4    Sandrini, F.5    Stratakis, C.A.6
  • 23
    • 0030049026 scopus 로고    scopus 로고
    • Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2
    • Stratakis C.A., Carney J.A., Lin J.P., Papanicolaou D.A., Karl M., Kastner D.L., et al. Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2. J Clin Invest 1996, 97(3):699-705.
    • (1996) J Clin Invest , vol.97 , Issue.3 , pp. 699-705
    • Stratakis, C.A.1    Carney, J.A.2    Lin, J.P.3    Papanicolaou, D.A.4    Karl, M.5    Kastner, D.L.6
  • 24
    • 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 K.J., et al. A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nat Genet 2006, 38(7):794-800.
    • (2006) Nat Genet , vol.38 , Issue.7 , pp. 794-800
    • Horvath, A.1    Boikos, S.2    Giatzakis, C.3    Robinson-White, A.4    Groussin, L.5    Griffin, K.J.6
  • 25
    • 33846242137 scopus 로고    scopus 로고
    • 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., et al. Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population. Cancer Res 2006, 66(24):11571-11575.
    • (2006) Cancer Res , vol.66 , Issue.24 , pp. 11571-11575
    • Horvath, A.1    Giatzakis, C.2    Robinson-White, A.3    Boikos, S.4    Levine, E.5    Griffin, K.6
  • 26
    • 39049101528 scopus 로고    scopus 로고
    • Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia
    • Horvath A., Mericq V., Stratakis C.A. Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia. N Engl J Med 2008, 358(7):750-752.
    • (2008) N Engl J Med , vol.358 , Issue.7 , pp. 750-752
    • Horvath, A.1    Mericq, V.2    Stratakis, C.A.3
  • 27
    • 53249142160 scopus 로고    scopus 로고
    • 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., et al. 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. Europ J Hum Genet 2008, 16(10):1245-1253.
    • (2008) Europ J Hum Genet , vol.16 , Issue.10 , pp. 1245-1253
    • Horvath, A.1    Giatzakis, C.2    Tsang, K.3    Greene, E.4    Osorio, P.5    Boikos, S.6
  • 28
    • 52449114622 scopus 로고    scopus 로고
    • Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors
    • Libe R., Fratticci A., Coste J., Tissier F., Horvath A., Ragazzon B., et al. Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors. Clin Cancer Res 2008, 14(12):4016-4024.
    • (2008) Clin Cancer Res , vol.14 , Issue.12 , pp. 4016-4024
    • Libe, R.1    Fratticci, A.2    Coste, J.3    Tissier, F.4    Horvath, A.5    Ragazzon, B.6
  • 29
    • 0021339563 scopus 로고
    • Bilateral primary pigmented nodular adrenocortical disease. Rare cause of the Cushing syndrome
    • Shenoy B.V., Carpenter P.C., Carney J.A. Bilateral primary pigmented nodular adrenocortical disease. Rare cause of the Cushing syndrome. Am J Surg Pathol 1984, 8(5):335-344.
    • (1984) Am J Surg Pathol , vol.8 , Issue.5 , pp. 335-344
    • Shenoy, B.V.1    Carpenter, P.C.2    Carney, J.A.3
  • 30
    • 0036736814 scopus 로고    scopus 로고
    • Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease
    • Groussin L., Jullian E., Perlemoine K., Louvel A., Leheup B., Luton J.P., et al. Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease. J Clin Endocrinol Metab 2002, 87(9):4324-4329.
    • (2002) J Clin Endocrinol Metab , vol.87 , Issue.9 , pp. 4324-4329
    • Groussin, L.1    Jullian, E.2    Perlemoine, K.3    Louvel, A.4    Leheup, B.5    Luton, J.P.6
  • 31
    • 0032697639 scopus 로고    scopus 로고
    • Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease
    • Stratakis C.A., Sarlis N., Kirschner L.S., Carney J.A., Doppman J.L., Nieman L.K., et al. Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease. Ann Intern Med 1999, 131(8):585-591.
    • (1999) Ann Intern Med , vol.131 , Issue.8 , pp. 585-591
    • Stratakis, C.A.1    Sarlis, N.2    Kirschner, L.S.3    Carney, J.A.4    Doppman, J.L.5    Nieman, L.K.6
  • 32
    • 3242663165 scopus 로고    scopus 로고
    • Cyclical Cushing syndrome presenting in infancy: an early form of primary pigmented nodular adrenocortical disease, or a new entity?
    • Gunther D.F., Bourdeau I., Matyakhina L., Cassarino D., Kleiner D.E., Griffin K., et al. Cyclical Cushing syndrome presenting in infancy: an early form of primary pigmented nodular adrenocortical disease, or a new entity?. J Clin Endocrinol Metab 2004, 89(7):3173-3182.
    • (2004) J Clin Endocrinol Metab , vol.89 , Issue.7 , pp. 3173-3182
    • Gunther, D.F.1    Bourdeau, I.2    Matyakhina, L.3    Cassarino, D.4    Kleiner, D.E.5    Griffin, K.6
  • 33
    • 77953262853 scopus 로고    scopus 로고
    • CT findings of primary-pigmented nodular adrenocortical disease: rare cause of ACTH-independent Cushing syndrome
    • W541.
    • Courcoutsakis N, Prassopoulos P, Stratakis CA. CT findings of primary-pigmented nodular adrenocortical disease: rare cause of ACTH-independent Cushing syndrome. AJR 2010;194(6):W541.
    • (2010) AJR. , vol.194 , Issue.6
    • Courcoutsakis, N.1    Prassopoulos, P.2    Stratakis, C.A.3
  • 34
    • 0033767048 scopus 로고    scopus 로고
    • Genetic and histologic studies of somatomammotropic pituitary tumors in patients with the " complex of spotty skin pigmentation, myxomas, endocrine overactivity and schwannomas" (Carney complex)
    • Pack S.D., Kirschner L.S., Pak E., Zhuang Z., Carney J.A., Stratakis C.A. Genetic and histologic studies of somatomammotropic pituitary tumors in patients with the " complex of spotty skin pigmentation, myxomas, endocrine overactivity and schwannomas" (Carney complex). J Clin Endocrinol Metab 2000, 85(10):3860-3865.
    • (2000) J Clin Endocrinol Metab , vol.85 , Issue.10 , pp. 3860-3865
    • Pack, S.D.1    Kirschner, L.S.2    Pak, E.3    Zhuang, Z.4    Carney, J.A.5    Stratakis, C.A.6
  • 35
    • 33750979870 scopus 로고    scopus 로고
    • Pituitary pathology in patients with Carney complex: growth-hormone producing hyperplasia or tumors and their association with other abnormalities
    • Boikos S.A., Stratakis C.A. Pituitary pathology in patients with Carney complex: growth-hormone producing hyperplasia or tumors and their association with other abnormalities. Pituitary 2006, 9(3):203-209.
    • (2006) Pituitary , vol.9 , Issue.3 , pp. 203-209
    • Boikos, S.A.1    Stratakis, C.A.2
  • 37
    • 0030835716 scopus 로고    scopus 로고
    • Thyroid gland abnormalities in patients with the syndrome of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas (Carney complex)
    • Stratakis C.A., Courcoutsakis N.A., Abati A., Filie A., Doppman J.L., Carney J.A., et al. Thyroid gland abnormalities in patients with the syndrome of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas (Carney complex). J Clin Endocrinol Metab 1997, 82(7):2037-2043.
    • (1997) J Clin Endocrinol Metab , vol.82 , Issue.7 , pp. 2037-2043
    • Stratakis, C.A.1    Courcoutsakis, N.A.2    Abati, A.3    Filie, A.4    Doppman, J.L.5    Carney, J.A.6
  • 40
    • 0032167504 scopus 로고    scopus 로고
    • Large-cell calcifying Sertoli cell tumor of the testis: case report and review of the literature
    • [discussion 22-3]
    • Chang B., Borer J.G., Tan P.E., Diamond D.A. Large-cell calcifying Sertoli cell tumor of the testis: case report and review of the literature. Urology 1998, 52(3):520-522. [discussion 22-3].
    • (1998) Urology , vol.52 , Issue.3 , pp. 520-522
    • Chang, B.1    Borer, J.G.2    Tan, P.E.3    Diamond, D.A.4
  • 41
    • 34548500815 scopus 로고    scopus 로고
    • Conservative management of bilateral Sertoli cell tumors of the testicle in association with the Carney complex: a case report
    • Brown B., Ram A., Clayton P., Humphrey G. Conservative management of bilateral Sertoli cell tumors of the testicle in association with the Carney complex: a case report. J Pediatr Surg 2007, 42(9):E13-E15.
    • (2007) J Pediatr Surg , vol.42 , Issue.9
    • Brown, B.1    Ram, A.2    Clayton, P.3    Humphrey, G.4
  • 42
    • 72549092529 scopus 로고    scopus 로고
    • Reproductive disturbances in multiple neuroendocrine tumor syndromes
    • Lytras A., Tolis G. Reproductive disturbances in multiple neuroendocrine tumor syndromes. Endocr Relat cancer 2009, 16(4):1125-1138.
    • (2009) Endocr Relat cancer , vol.16 , Issue.4 , pp. 1125-1138
    • Lytras, A.1    Tolis, G.2
  • 43
    • 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 K.A., McDermott D.A., Wilkes D., Poulsen M.N., Nolan M.A., 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 (Baltimore) 2006, 20(10):2504-2513.
    • (2006) Mol Endocrinol (Baltimore) , vol.20 , Issue.10 , 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
  • 45
    • 0024853439 scopus 로고
    • Familial Cushing's syndrome due to primary pigmented nodular adrenocortical disease. Reinvestigation 50years later
    • Young W.F., Carney J.A., Musa B.U., Wulffraat N.M., Lens J.W., Drexhage H.A. Familial Cushing's syndrome due to primary pigmented nodular adrenocortical disease. Reinvestigation 50years later. N Engl J Med 1989, 321(24):1659-1664.
    • (1989) N Engl J Med , vol.321 , Issue.24 , pp. 1659-1664
    • Young, W.F.1    Carney, J.A.2    Musa, B.U.3    Wulffraat, N.M.4    Lens, J.W.5    Drexhage, H.A.6
  • 47
    • 0035081809 scopus 로고    scopus 로고
    • Melanocortin receptors: their functions and regulation by physiological agonists and antagonists
    • Abdel-Malek Z.A. Melanocortin receptors: their functions and regulation by physiological agonists and antagonists. Cell Mol Life Sci 2001, 58(3):434-441.
    • (2001) Cell Mol Life Sci , vol.58 , Issue.3 , pp. 434-441
    • Abdel-Malek, Z.A.1
  • 48
    • 0036553037 scopus 로고    scopus 로고
    • The melanocortin receptors: lessons from knockout models
    • Butler A.A., Cone R.D. The melanocortin receptors: lessons from knockout models. Neuropeptides 2002, 36(2-3):77-84.
    • (2002) Neuropeptides , vol.36 , Issue.2-3 , pp. 77-84
    • Butler, A.A.1    Cone, R.D.2
  • 49
    • 0037372451 scopus 로고    scopus 로고
    • The melanocortin system
    • Gantz I., Fong T.M. The melanocortin system. Am J Physiol 2003, 284(3):E468-E474.
    • (2003) Am J Physiol , vol.284 , Issue.3
    • Gantz, I.1    Fong, T.M.2
  • 50
    • 0025899534 scopus 로고
    • Ductal adenoma of the breast with tubular features. A probable component of the complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas
    • Carney J.A., Toorkey B.C. Ductal adenoma of the breast with tubular features. A probable component of the complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas. Am J Surg Pathol 1991, 15(8):722-731.
    • (1991) Am J Surg Pathol , vol.15 , Issue.8 , pp. 722-731
    • Carney, J.A.1    Toorkey, B.C.2
  • 51
    • 0025783744 scopus 로고
    • Myxoid fibroadenoma and allied conditions (myxomatosis) of the breast. A heritable disorder with special associations including cardiac and cutaneous myxomas
    • Carney J.A., Toorkey B.C. Myxoid fibroadenoma and allied conditions (myxomatosis) of the breast. A heritable disorder with special associations including cardiac and cutaneous myxomas. Am J Surg Pathol 1991, 15(8):713-721.
    • (1991) Am J Surg Pathol , vol.15 , Issue.8 , pp. 713-721
    • Carney, J.A.1    Toorkey, B.C.2
  • 52
    • 0035110160 scopus 로고    scopus 로고
    • Osteochondromyxoma of bone: a congenital tumor associated with lentigines and other unusual disorders
    • Carney J.A., Boccon-Gibod L., Jarka D.E., Tanaka Y., Swee R.G., Unni K.K., et al. Osteochondromyxoma of bone: a congenital tumor associated with lentigines and other unusual disorders. Am J Surg Pathol 2001, 25(2):164-176.
    • (2001) Am J Surg Pathol , vol.25 , Issue.2 , pp. 164-176
    • Carney, J.A.1    Boccon-Gibod, L.2    Jarka, D.E.3    Tanaka, Y.4    Swee, R.G.5    Unni, K.K.6
  • 53
    • 54049112731 scopus 로고    scopus 로고
    • A novel PRKAR1A mutation associated with hepatocellular carcinoma in a young patient and a variable Carney complex phenotype in affected subjects in older generations
    • Gennari M., Stratakis C.A., Hovarth A., Pirazzoli P., Cicognani A. A novel PRKAR1A mutation associated with hepatocellular carcinoma in a young patient and a variable Carney complex phenotype in affected subjects in older generations. Clin Endocrinol (Oxf) 2008, 69(5):751-755.
    • (2008) Clin Endocrinol (Oxf) , vol.69 , Issue.5 , pp. 751-755
    • Gennari, M.1    Stratakis, C.A.2    Hovarth, A.3    Pirazzoli, P.4    Cicognani, A.5
  • 54
    • 65349174475 scopus 로고    scopus 로고
    • Intraductal papillary mucinous tumor of the pancreas in 2 twin brothers diagnosed as having the Carney complex
    • Pery C., Avallone S., Regenet N., Coron E., Le Borgne J. Intraductal papillary mucinous tumor of the pancreas in 2 twin brothers diagnosed as having the Carney complex. Pancreas 2009, 38(2):237-239.
    • (2009) Pancreas , vol.38 , Issue.2 , pp. 237-239
    • Pery, C.1    Avallone, S.2    Regenet, N.3    Coron, E.4    Le Borgne, J.5
  • 55
    • 51449101690 scopus 로고    scopus 로고
    • Multiple fusiform myxomatous cerebral aneurysms in a patient with Carney complex
    • Ryou K.S., Lee S.H., Park S.H., Park J., Hwang S.K., Hamm I.S. Multiple fusiform myxomatous cerebral aneurysms in a patient with Carney complex. J Neurosurg 2008, 109(2):318-320.
    • (2008) J Neurosurg , vol.109 , Issue.2 , pp. 318-320
    • Ryou, K.S.1    Lee, S.H.2    Park, S.H.3    Park, J.4    Hwang, S.K.5    Hamm, I.S.6
  • 56
    • 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 2008, 31(4):369-379.
    • (2008) Hum Mutat , vol.31 , Issue.4 , pp. 369-379
    • Horvath, A.1    Bertherat, J.2    Groussin, L.3    Guillaud-Bataille, M.4    Tsang, K.5    Cazabat, L.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.