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Volumn 14, Issue 2, 2008, Pages 388-395

Large deletions of the PRKAR1A gene in carney complex

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP; CYCLIC AMP DEPENDENT PROTEIN KINASE; MESSENGER RNA;

EID: 38949096090     PISSN: 10780432     EISSN: None     Source Type: Journal    
DOI: 10.1158/1078-0432.CCR-07-1155     Document Type: Article
Times cited : (85)

References (22)
  • 1
    • 0022446058 scopus 로고
    • Dominant inheritance of the complex of myxomas, spotty pigmentation, and endocrine overactivity
    • Carney JA, Hruska LS, Beauchamp GD, Gordon H. Dominant inheritance of the complex of myxomas, spotty pigmentation, and endocrine overactivity. Mayo Clin Proc 1986;61:165-72.
    • (1986) Mayo Clin Proc , vol.61 , pp. 165-172
    • Carney, J.A.1    Hruska, L.S.2    Beauchamp, G.D.3    Gordon, H.4
  • 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;86:4041-6.
    • (2001) J Clin Endocrinol Metab , vol.86 , 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-α regulatory subunit in patients with the Carney complex
    • Kirschner LS, Carney JA, Pack SD, et al. Mutations of the gene encoding the protein kinase A type I-α 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
  • 5
    • 0034642302 scopus 로고    scopus 로고
    • Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the Carney complex
    • Kirschner LS, Sandrini F, Monbo J, Lin JP, Carney JA, Stratakis CA. Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the Carney complex. Hum Mol Genet 2000;9:3037-46.
    • (2000) Hum Mol Genet , vol.9 , 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
  • 6
    • 33750069744 scopus 로고    scopus 로고
    • Carney complex: Pathology and molecular genetics
    • Boikos SA, Stratakis CA. Carney complex: pathology and molecular genetics. Neuroendocrinology 2006;83:189-99.
    • (2006) Neuroendocrinology , vol.83 , pp. 189-199
    • Boikos, S.A.1    Stratakis, C.A.2
  • 7
    • 20744431604 scopus 로고    scopus 로고
    • PRKAR1A gene mutation in patients with cardiac myxoma
    • Mabuchi T, Shimizu M, Ino H, et al. PRKAR1A gene mutation in patients with cardiac myxoma. Int J Cardiol 2005;102:273-7.
    • (2005) Int J Cardiol , vol.102 , pp. 273-277
    • Mabuchi, T.1    Shimizu, M.2    Ino, H.3
  • 8
    • 24944522561 scopus 로고    scopus 로고
    • Molecular and immunohistochemical investigation of protein kinase a regulatory subunit type 1A (PRKAR1A) in odontogenic myxomas
    • Perdigao PF, Stergiopoulos SG, De Marco L, et al. Molecular and immunohistochemical investigation of protein kinase a regulatory subunit type 1A (PRKAR1A) in odontogenic myxomas. Genes Chromosomes Cancer 2005;44:204-11.
    • (2005) Genes Chromosomes Cancer , vol.44 , pp. 204-211
    • Perdigao, P.F.1    Stergiopoulos, S.G.2    De Marco, L.3
  • 9
    • 34247127025 scopus 로고    scopus 로고
    • Primary pigmented nodular adrenocortical disease (PPNAD) and pituitary adenoma in a boy with sporadic Carney complex due to a novel, de novo paternal PRKAR1A mutation (R96X)
    • Urban C, Weinhausel A, Fritsch P, et al. Primary pigmented nodular adrenocortical disease (PPNAD) and pituitary adenoma in a boy with sporadic Carney complex due to a novel, de novo paternal PRKAR1A mutation (R96X). J Pediatr Endocrinol Metab 2007;20:247-52.
    • (2007) J Pediatr Endocrinol Metab , vol.20 , pp. 247-252
    • Urban, C.1    Weinhausel, A.2    Fritsch, P.3
  • 10
    • 0038721027 scopus 로고    scopus 로고
    • 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, et al. 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. Cancer Res 2003;63:5308-19.
    • (2003) Cancer Res , vol.63 , pp. 5308-5319
    • Bertherat, J.1    Groussin, L.2    Sandrini, F.3
  • 11
    • 0037389713 scopus 로고    scopus 로고
    • Chromosome 2 (2p16) abnormalities in Carney complex tumours
    • Matyakhina L, Pack S, Kirschner LS, et al. Chromosome 2 (2p16) abnormalities in Carney complex tumours. J Med Genet 2003;40:268-77.
    • (2003) J Med Genet , vol.40 , pp. 268-277
    • Matyakhina, L.1    Pack, S.2    Kirschner, L.S.3
  • 12
    • 27644431904 scopus 로고    scopus 로고
    • Molecular genetics of adrenocortical tumours, from familial to sporadic diseases
    • Libe R, Bertherat J. Molecular genetics of adrenocortical tumours, from familial to sporadic diseases. Eur J Endocrinol 2005;153:477-87.
    • (2005) Eur J Endocrinol , vol.153 , pp. 477-487
    • Libe, R.1    Bertherat, J.2
  • 13
    • 33751301602 scopus 로고    scopus 로고
    • 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. PRKAR1A inactivation leads to increased proliferation and decreased apoptosis in human B lymphocytes. Cancer Res 2006;66:10603-12.
    • (2006) Cancer Res , vol.66 , pp. 10603-10612
    • Robinson-White, A.J.1    Leitner, W.W.2    Aleem, E.3    Kaldis, P.4    Bossis, I.5    Stratakis, C.A.6
  • 15
    • 33646427720 scopus 로고    scopus 로고
    • A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds
    • Groussin L, Horvath A, Jullian E, et al. A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. J Clin Endocrinol Metab 2006;91:1943-9.
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 1943-1949
    • Groussin, L.1    Horvath, A.2    Jullian, E.3
  • 16
    • 33744955546 scopus 로고    scopus 로고
    • PRKAR1A mutations and protein kinase A interactions with other signaling pathways in the adrenal cortex
    • Robinson-White A, Meoli E, Stergiopoulos S, et al. PRKAR1A mutations and protein kinase A interactions with other signaling pathways in the adrenal cortex. J Clin Endocrinol Metab 2006;91:2380-8.
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 2380-2388
    • Robinson-White, A.1    Meoli, E.2    Stergiopoulos, S.3
  • 17
    • 9444247656 scopus 로고    scopus 로고
    • Minireview: PRKAR1A: normal and abnormal functions
    • Bossis I, Stratakis CA. Minireview: PRKAR1A: normal and abnormal functions. Endocrinology 2004;145:5452-8.
    • (2004) Endocrinology , vol.145 , pp. 5452-5458
    • Bossis, I.1    Stratakis, C.A.2
  • 18
    • 0036291278 scopus 로고    scopus 로고
    • Mutations of the gene encoding the protein kinase A type I-α regulatory subunit (PRKAR1A) in patients with the "complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas" (Carney complex)
    • Stratakis CA. Mutations of the gene encoding the protein kinase A type I-α regulatory subunit (PRKAR1A) in patients with the "complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas" (Carney complex). Ann N Y Acad Sci 2002;968:3-21.
    • (2002) Ann N Y Acad Sci , vol.968 , pp. 3-21
    • Stratakis, C.A.1
  • 19
    • 1842508816 scopus 로고    scopus 로고
    • Mapping intersubunit interactions of the regulatory subunit (RIα) in the type I holoenzyme of protein kinase A by amide hydrogen/deuterium exchange mass spectrometry (DXMS)
    • Hamuro Y, Anand GS, Kim JS, et al. Mapping intersubunit interactions of the regulatory subunit (RIα) in the type I holoenzyme of protein kinase A by amide hydrogen/deuterium exchange mass spectrometry (DXMS). J Mol Biol 2004;340:1185-96.
    • (2004) J Mol Biol , vol.340 , pp. 1185-1196
    • Hamuro, Y.1    Anand, G.S.2    Kim, J.S.3
  • 20
    • 13244291292 scopus 로고    scopus 로고
    • Crystal structure of a complex between the catalytic and regulatory (RIα) subunits of PKA
    • Kim C, Xuong NH, Taylor SS. Crystal structure of a complex between the catalytic and regulatory (RIα) subunits of PKA. Science 2005;307:690-6.
    • (2005) Science , vol.307 , pp. 690-696
    • Kim, C.1    Xuong, N.H.2    Taylor, S.S.3
  • 21
    • 0025765353 scopus 로고
    • Psammomatous melanotic schwannoma: An additional component of Carney's complex. Report of a case
    • Martin-Reay DG, Shattuck MC, Guthrie FW, Jr. Psammomatous melanotic schwannoma: an additional component of Carney's complex. Report of a case. Am J Clin Pathol 1991;95:484-9.
    • (1991) Am J Clin Pathol , vol.95 , pp. 484-489
    • Martin-Reay, D.G.1    Shattuck, M.C.2    Guthrie Jr., F.W.3
  • 22
    • 85142983844 scopus 로고    scopus 로고
    • Samdarshi TE, Mahan EF III, Nanda NC, Guthrie FW, Jr., Bernstein IJ, Kirklin JW. Transesophageal echocardiographic diagnosis of multicentric left ventricular myxomas mimicking a left atrial tumor. J Thorac Cardiovasc Surg 1992;103:471-4.
    • Samdarshi TE, Mahan EF III, Nanda NC, Guthrie FW, Jr., Bernstein IJ, Kirklin JW. Transesophageal echocardiographic diagnosis of multicentric left ventricular myxomas mimicking a left atrial tumor. J Thorac Cardiovasc Surg 1992;103:471-4.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.