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Volumn 168, Issue 2, 2013, Pages 119-128

MEN1 intragenic deletions may represent the most prevalent somatic event in sporadic primary hyperparathyroidism

Author keywords

[No Author keywords available]

Indexed keywords

BETA CATENIN; BIOLOGICAL MARKER; CYCLIN D1; CYCLIN DEPENDENT KINASE INHIBITOR 1B; DNA; KI 67 ANTIGEN; METHIONINE; PARAFIBROMIN; UNCLASSIFIED DRUG;

EID: 84872335935     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-12-0327     Document Type: Article
Times cited : (28)

References (54)
  • 1
    • 0036840609 scopus 로고    scopus 로고
    • Clinical presentation of primary hyperparathyroidism in Europe - Nationwide cohort analysis on mortality from nonmalignant causes
    • Nilsson IL, Yin L, Lundgren E, Rastad J & Ekbom A. Clinical presentation of primary hyperparathyroidism in Europe - nationwide cohort analysis on mortality from nonmalignant causes. Journal of Bone and Mineral Research 2002 17 (Suppl 2) N68-N74. (Pubitemid 35222315)
    • (2002) Journal of Bone and Mineral Research , vol.17 , Issue.SUPPL. 2
    • Nilsson, I.-L.1    Yin, L.2    Lundgren, E.3    Rastad, J.4    Ekbom, A.5
  • 2
    • 78249289133 scopus 로고    scopus 로고
    • Parathyroid pathology: Hyperparathyroidism and parathyroid tumors
    • Carlson D. Parathyroid pathology: hyperparathyroidism and parathyroid tumors. Archives of Pathology & Laboratory Medicine 2010 134 1639-1644.
    • (2010) Archives of Pathology & Laboratory Medicine , vol.134 , pp. 1639-1644
    • Carlson, D.1
  • 6
    • 79951672207 scopus 로고    scopus 로고
    • p27kip1: A new multiple endocrine neoplasia gene?
    • doi:10.1159/000320366
    • Marinoni I & Pellegata NS. p27kip1: a new multiple endocrine neoplasia gene? Neuroendocrinology 2011 93 19-28. (doi:10.1159/000320366)
    • (2011) Neuroendocrinology , vol.93 , pp. 19-28
    • Marinoni, I.1    Pellegata, N.S.2
  • 7
    • 77956581284 scopus 로고    scopus 로고
    • MEN-4 and othermultiple endocrine neoplasias due to cyclin-dependent kinase inhibitors (p27(Kip1) and p18(INK4C)) mutations
    • doi:10.1016/j.beem.2010.01.001
    • Georgitsi M. MEN-4 and othermultiple endocrine neoplasias due to cyclin-dependent kinase inhibitors (p27(Kip1) and p18(INK4C)) mutations. Best Practice & Research. Clinical Endocrinology & Metabolism 2010 24 425-437. (doi:10.1016/j.beem.2010.01.001)
    • (2010) Best Practice & Research. Clinical Endocrinology & Metabolism , vol.24 , pp. 425-437
    • Georgitsi, M.1
  • 8
    • 84857946496 scopus 로고    scopus 로고
    • Functional characterization of a rare germline mutation in the gene encoding the cyclin-dependent kinase inhibitor p27kip1 (CDKN1B) in a Spanish patient with multiple endocrine neoplasia-like phenotype
    • doi:10.1530/EJE-11-0929
    • Malanga D, De Gisi S, Riccardi M, Scrima M, De Marco C, Robledo M & Viglietto G. Functional characterization of a rare germline mutation in the gene encoding the cyclin-dependent kinase inhibitor p27kip1 (CDKN1B) in a Spanish patient with multiple endocrine neoplasia-like phenotype. European Journal of Endocrinology 2012 166 551-560. (doi:10.1530/EJE-11-0929)
    • (2012) European Journal of Endocrinology , vol.166 , pp. 551-560
    • Malanga, D.1    De Gisi, S.2    Riccardi, M.3    Scrima, M.4    De Marco, C.5    Robledo, M.6    Viglietto, G.7
  • 9
    • 0029836726 scopus 로고    scopus 로고
    • Loss of chromosome arm 9p DNA and analysis of the p16 and p15 cyclin-dependent kinase inhibitor genes in human parathyroid adenomas
    • doi:10.1210/jc.81.10.3663
    • Tahara H, Smith AP, Gaz RD & Arnold A. Loss of chromosome arm 9p DNA and analysis of the p16 and p15 cyclin-dependent kinase inhibitor genes in human parathyroid adenomas. Journal of Clinical Endocrinology and Metabolism 1996 81 3663-3667. (doi:10.1210/jc.81.10.3663)
    • (1996) Journal of Clinical Endocrinology and Metabolism , vol.81 , pp. 3663-3667
    • Tahara, H.1    Smith, A.P.2    Gaz, R.D.3    Arnold, A.4
  • 11
    • 0038359353 scopus 로고    scopus 로고
    • Caught up in a Wnt storm: Wnt signaling in cancer
    • doi:10.1016/S0304-419X(03)00005-2
    • Giles RH, van Es JH & Clevers H. Caught up in a Wnt storm: Wnt signaling in cancer. Biochimica et Biophysica Acta 2003 1653 1-24. (doi:10.1016/S0304-419X(03)00005-2)
    • (2003) Biochimica et Biophysica Acta , vol.1653 , pp. 1-24
    • Giles, R.H.1    Van Es, J.H.2    Clevers, H.3
  • 12
    • 0033895709 scopus 로고    scopus 로고
    • Wnt signaling and cancer
    • doi:10.1101/gad.14.15.1837
    • Polakis P. Wnt signaling and cancer. Genes and Development 2000 14 1837-1851. (doi:10.1101/gad.14.15.1837)
    • (2000) Genes and Development , vol.14 , pp. 1837-1851
    • Polakis, P.1
  • 13
    • 33846077660 scopus 로고    scopus 로고
    • Accumulation of nonphosphorylated β-catenin and c-myc in primary and uremic secondary hyperparathyroid tumors
    • doi:10.1210/jc.2006-1197
    • Bjorklund P, Akerstrom G & Westin G. Accumulation of nonphosphorylated β-catenin and c-myc in primary and uremic secondary hyperparathyroid tumors. Journal of Clinical Endocrinology and Metabolism 2007 92 338-344. (doi:10.1210/jc.2006-1197)
    • (2007) Journal of Clinical Endocrinology and Metabolism , vol.92 , pp. 338-344
    • Bjorklund, P.1    Akerstrom, G.2    Westin, G.3
  • 18
    • 38149112594 scopus 로고    scopus 로고
    • Multiple endocrine neoplasia type 1 (MEN1): Analysis of 1336 mutations reported in the first decade following identification of the gene
    • doi:10.1002/humu.20605
    • Lemos MC & Thakker RV. Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene. Human Mutation 2008 29 22-32. (doi:10.1002/humu.20605)
    • (2008) Human Mutation , vol.29 , pp. 22-32
    • Lemos, M.C.1    Thakker, R.V.2
  • 20
    • 0033623903 scopus 로고    scopus 로고
    • Frequency of somatic MEN1 gene mutations in monoclonal parathyroid tumours of patients with primary hyperparathyroidism
    • doi:10.1530/eje.0.1430047
    • Miedlich S, Krohn K, Lamesch P, Muller A & Paschke R. Frequency of somatic MEN1 gene mutations in monoclonal parathyroid tumours of patients with primary hyperparathyroidism. European Journal of Endocrinology 2000 143 47-54. (doi:10.1530/eje.0.1430047)
    • (2000) European Journal of Endocrinology , vol.143 , pp. 47-54
    • Miedlich, S.1    Krohn, K.2    Lamesch, P.3    Muller, A.4    Paschke, R.5
  • 21
    • 70350029364 scopus 로고    scopus 로고
    • Molecular genetics of parathyroid disease
    • doi:10.1007/s00268-009-0022-6
    • Westin G, Bjorklund P & Akerstrom G. Molecular genetics of parathyroid disease. World Journal of Surgery 2009 33 2224-2233. (doi:10.1007/s00268-009-0022-6)
    • (2009) World Journal of Surgery , vol.33 , pp. 2224-2233
    • Westin, G.1    Bjorklund, P.2    Akerstrom, G.3
  • 23
    • 9444236895 scopus 로고    scopus 로고
    • Minireview: Cyclin D1: normal and abnormal functions
    • doi:10.1210/en.2004-0959
    • Fu M, Wang C, Li Z, Sakamaki T & Pestell RG. Minireview: cyclin D1: normal and abnormal functions. Endocrinology 2004 145 5439-5447. (doi:10.1210/en.2004-0959)
    • (2004) Endocrinology , vol.145 , pp. 5439-5447
    • Fu, M.1    Wang, C.2    Li, Z.3    Sakamaki, T.4    Pestell, R.G.5
  • 25
    • 0034145725 scopus 로고    scopus 로고
    • Cyclin D1 in parathyroid disease
    • doi:10.2741/Mallya
    • Mallya SM & Arnold A. Cyclin D1 in parathyroid disease. Frontiers in Bioscience 2000 5 D367-D371. (doi:10.2741/Mallya)
    • (2000) Frontiers in Bioscience , vol.5
    • Mallya, S.M.1    Arnold, A.2
  • 27
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • doi:10.1093/nar/16.3.1215
    • Miller SA, Dykes DD & Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Research 1988 16 1215. (doi:10.1093/nar/16.3.1215)
    • (1988) Nucleic Acids Research , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 28
    • 0038170599 scopus 로고    scopus 로고
    • E-cadherin loss rather than β-catenin alterations is a common feature of poorly differentiated thyroid carcinomas
    • doi:10.1046/j.1365-2559.2003.01642.x
    • Rocha AS, Soares P, Fonseca E, Cameselle-Teijeiro J, Oliveira MC & Sobrinho-Simoes M. E-cadherin loss rather than β-catenin alterations is a common feature of poorly differentiated thyroid carcinomas. Histopathology 2003 42 580-587. (doi:10.1046/j.1365-2559.2003.01642.x)
    • (2003) Histopathology , vol.42 , pp. 580-587
    • Rocha, A.S.1    Soares, P.2    Fonseca, E.3    Cameselle-Teijeiro, J.4    Oliveira, M.C.5    Sobrinho-Simoes, M.6
  • 30
    • 0034700450 scopus 로고    scopus 로고
    • Hyperparathyroid and hypoparathyroid disorders
    • doi:10.1056/NEJM200012213432508
    • Marx SJ. Hyperparathyroid and hypoparathyroid disorders. New England Journal of Medicine 2000 343 1863-1875. (doi:10.1056/NEJM200012213432508)
    • (2000) New England Journal of Medicine , vol.343 , pp. 1863-1875
    • Marx, S.J.1
  • 31
    • 0035693351 scopus 로고    scopus 로고
    • The MEN1 gene and associated diseases: An update
    • doi:10.1385/EP:12:3:259
    • Tsukada T, Yamaguchi K & Kameya T. The MEN1 gene and associated diseases: an update. Endocrine Pathology 2001 12 259-273. (doi:10.1385/EP:12:3: 259)
    • (2001) Endocrine Pathology , vol.12 , pp. 259-273
    • Tsukada, T.1    Yamaguchi, K.2    Kameya, T.3
  • 35
    • 0034457762 scopus 로고    scopus 로고
    • Familial isolated hyperparathyroidism as a variant of multiple endocrine neoplasia type 1 in a large Danish pedigree
    • doi:10.1210/jc.85.1.165
    • Kassem M, Kruse TA, Wong FK, Larsson C & Teh BT. Familial isolated hyperparathyroidism as a variant of multiple endocrine neoplasia type 1 in a large Danish pedigree. Journal of Clinical Endocrinology and Metabolism 2000 85 165-167. (doi:10.1210/jc.85.1.165)
    • (2000) Journal of Clinical Endocrinology and Metabolism , vol.85 , pp. 165-167
    • Kassem, M.1    Kruse, T.A.2    Wong, F.K.3    Larsson, C.4    Teh, B.T.5
  • 38
    • 0036748104 scopus 로고    scopus 로고
    • Multiple endocrine neoplasia type 1 polymorphism D418D is associated with sporadic primary hyperparathyroidism
    • doi:10.1016/S0039-6060(02)00110-1
    • Correa P, Lundgren E, Rastad J, Akerstrom G, Westin G & Carling T. Multiple endocrine neoplasia type 1 polymorphism D418D is associated with sporadic primary hyperparathyroidism. Surgery 2002 132 450-455. (doi:10.1016/S0039-6060(02)00110-1)
    • (2002) Surgery , vol.132 , pp. 450-455
    • Correa, P.1    Lundgren, E.2    Rastad, J.3    Akerstrom, G.4    Westin, G.5    Carling, T.6
  • 39
    • 33749057696 scopus 로고    scopus 로고
    • Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease
    • doi:10.1038/sj.ejhg.5201649
    • Khajavi M, Inoue K & Lupski JR. Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. European Journal of Human Genetics 2006 14 1074-1081. (doi:10.1038/sj.ejhg.5201649)
    • (2006) European Journal of Human Genetics , vol.14 , pp. 1074-1081
    • Khajavi, M.1    Inoue, K.2    Lupski, J.R.3
  • 41
    • 33846673079 scopus 로고    scopus 로고
    • Distinct patterns of germline deletions in MLH1 and MSH2: The implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC)
    • doi:10.1002/humu.9417
    • Li L, McVety S, Younan R, Liang P, Du Sart D, Gordon PH, Hutter P, Hogervorst FB, Chong G & Foulkes WD. Distinct patterns of germline deletions in MLH1 and MSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC). Human Mutation 2006 27 388. (doi:10.1002/humu.9417)
    • (2006) Human Mutation , vol.27 , pp. 388
    • Li, L.1    McVety, S.2    Younan, R.3    Liang, P.4    Du Sart, D.5    Gordon, P.H.6    Hutter, P.7    Hogervorst, F.B.8    Chong, G.9    Foulkes, W.D.10
  • 44
    • 39049177152 scopus 로고    scopus 로고
    • Awhole MEN1 gene deletion flanked by Alu repeats in a family with multiple endocrine neoplasia type 1
    • doi:10.1093/jjco/hyl089
    • Fukuuchi A, Nagamura Y, Yaguchi H, Ohkura N, Obara T & Tsukada T. Awhole MEN1 gene deletion flanked by Alu repeats in a family with multiple endocrine neoplasia type 1. Japanese Journal of Clinical Oncology 2006 36 739-744. (doi:10.1093/jjco/hyl089)
    • (2006) Japanese Journal of Clinical Oncology , vol.36 , pp. 739-744
    • Fukuuchi, A.1    Nagamura, Y.2    Yaguchi, H.3    Ohkura, N.4    Obara, T.5    Tsukada, T.6
  • 45
    • 1042266541 scopus 로고    scopus 로고
    • Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients
    • doi:10.1089/109065703322783707
    • Erlandson A, Samuelsson L, Hagberg B, Kyllerman M, Vujic M & Wahlstrom J. Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients. Genetic Testing 2003 7 329-332. (doi:10.1089/109065703322783707)
    • (2003) Genetic Testing , vol.7 , pp. 329-332
    • Erlandson, A.1    Samuelsson, L.2    Hagberg, B.3    Kyllerman, M.4    Vujic, M.5    Wahlstrom, J.6
  • 46
    • 79551707478 scopus 로고    scopus 로고
    • Evaluation of multiplex ligation-dependent probe amplification as a method for the detection of copy number abnormalities in B-cell precursor acute lymphoblastic leukemia
    • doi:10.1002/gcc.20818
    • Schwab CJ, Jones LR, Morrison H, Ryan SL, Yigittop H, Schouten JP & Harrison CJ. Evaluation of multiplex ligation-dependent probe amplification as a method for the detection of copy number abnormalities in B-cell precursor acute lymphoblastic leukemia. Genes, Chromosomes & Cancer 2010 49 1104-1113. (doi:10.1002/gcc.20818)
    • (2010) Genes, Chromosomes & Cancer , vol.49 , pp. 1104-1113
    • Schwab, C.J.1    Jones, L.R.2    Morrison, H.3    Ryan, S.L.4    Yigittop, H.5    Schouten, J.P.6    Harrison, C.J.7
  • 52
    • 33747367221 scopus 로고    scopus 로고
    • CpG island methylation of tumor-related promoters occurs preferentially in undifferentiated carcinoma
    • doi:10.1089/thy.2006.16.633
    • Schagdarsurengin U, Gimm O, Dralle H, Hoang-Vu C & Dammann R. CpG island methylation of tumor-related promoters occurs preferentially in undifferentiated carcinoma. Thyroid 2006 16 633-642. (doi:10.1089/thy.2006.16. 633)
    • (2006) Thyroid , vol.16 , pp. 633-642
    • Schagdarsurengin, U.1    Gimm, O.2    Dralle, H.3    Hoang-Vu, C.4    Dammann, R.5


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