메뉴 건너뛰기




Volumn 97, Issue 9, 1998, Pages 614-618

Germline RET proto-oncogene mutations in two Taiwanese families with multiple endocrine neoplasia type 2A

Author keywords

Heterozygote; Homozygote; Multiple endocrine neoplasia; RET proto oncogene; Type 2A

Indexed keywords

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CODON; DIAGNOSTIC ACCURACY; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; EXON; FEMALE; GENE MUTATION; HUMAN; MALE; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION; SIPPLE SYNDROME;

EID: 0031720359     PISSN: 09296646     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (7)

References (24)
  • 1
    • 0028351331 scopus 로고
    • Multiple endocrine neoplasia type 2: Clinical features and screening
    • Raue F, Frank-Raue K, Grauer A: Multiple endocrine neoplasia type 2: clinical features and screening. Endocrinol Metab Clin North Am 1994;23:137-56.
    • (1994) Endocrinol Metab Clin North Am , vol.23 , pp. 137-156
    • Raue, F.1    Frank-Raue, K.2    Grauer, A.3
  • 2
    • 0023229266 scopus 로고
    • A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10
    • Mathew CG, Chin KS, Easton DF, et al: A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10. Nature 1987;328:527-8.
    • (1987) Nature , vol.328 , pp. 527-528
    • Mathew, C.G.1    Chin, K.S.2    Easton, D.F.3
  • 3
    • 0025007367 scopus 로고
    • Linkage of the multiple endocrine neoplasia type 2B gene (MEN2B) to chromosome 10 markers linked to MEN2A
    • Norum RA, Lafreniere RG, O'Neal LW, et al: Linkage of the multiple endocrine neoplasia type 2B gene (MEN2B) to chromosome 10 markers linked to MEN2A. Genomics 1990;8:313-7.
    • (1990) Genomics , vol.8 , pp. 313-317
    • Norum, R.A.1    Lafreniere, R.G.2    O'Neal, L.W.3
  • 4
    • 0026061598 scopus 로고
    • Familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2B map to the same region of chromosome 10 as multiple endocrine neoplasia type 2A
    • published erratum appears in Genomics 1991;10:514
    • Lairmore TC, Howe JR, Korte JA, et al: Familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2B map to the same region of chromosome 10 as multiple endocrine neoplasia type 2A. [published erratum appears in Genomics 1991;10:514.] Genomics 1991;9:181-92.
    • (1991) Genomics , vol.9 , pp. 181-192
    • Lairmore, T.C.1    Howe, J.R.2    Korte, J.A.3
  • 5
    • 0027231568 scopus 로고
    • Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
    • Mulligan LM, Kwok JBJ, Healey CS, et al: Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 1993;363:458-60.
    • (1993) Nature , vol.363 , pp. 458-460
    • Mulligan, L.M.1    Kwok, J.B.J.2    Healey, C.S.3
  • 6
    • 0027303248 scopus 로고
    • Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC
    • Donis-Keller H, Dou S, Chi D, et al: Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum Mol Genet 1993;2:851-6.
    • (1993) Hum Mol Genet , vol.2 , pp. 851-856
    • Donis-Keller, H.1    Dou, S.2    Chi, D.3
  • 7
    • 0028199074 scopus 로고
    • Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC
    • Mulligan LM, Eng C, Healey CS, et al: Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet 1994;6:70-4.
    • (1994) Nat Genet , vol.6 , pp. 70-74
    • Mulligan, L.M.1    Eng, C.2    Healey, C.S.3
  • 8
    • 0028345936 scopus 로고
    • Identification of multiple endocrine neoplasia, type 2 gene carriers using linkage analysis and analysis of the RET proto-oncogene
    • Tsai MS, Ledger GA, Khosla S, et al: Identification of multiple endocrine neoplasia, type 2 gene carriers using linkage analysis and analysis of the RET proto-oncogene. J Clin Endocrinol Metab 1994;78:1261-4.
    • (1994) J Clin Endocrinol Metab , vol.78 , pp. 1261-1264
    • Tsai, M.S.1    Ledger, G.A.2    Khosla, S.3
  • 9
    • 0028206298 scopus 로고
    • A de novo mutation of the RET proto-oncogene in a patient with MEN 2A
    • Mulligan LM, Eng C, Healey CS, et al: A de novo mutation of the RET proto-oncogene in a patient with MEN 2A. Hum Mol Genet 1994;3:1007-8.
    • (1994) Hum Mol Genet , vol.3 , pp. 1007-1008
    • Mulligan, L.M.1    Eng, C.2    Healey, C.S.3
  • 10
    • 0031018680 scopus 로고    scopus 로고
    • Prevalence and parental origin of de novo RET mutation in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma
    • Schuffenecker I, Ginet N, Goldgar D, et al: Prevalence and parental origin of de novo RET mutation in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma. Am J Hum Genet 1997;60:233-7.
    • (1997) Am J Hum Genet , vol.60 , pp. 233-237
    • Schuffenecker, I.1    Ginet, N.2    Goldgar, D.3
  • 11
    • 0028914683 scopus 로고
    • Activation of RET as a dominant transforming gene by germline mutations of MEN 2A and MEN 2B
    • Santoro M, Carlomagno F, Romano A, et al: Activation of RET as a dominant transforming gene by germline mutations of MEN 2A and MEN 2B. Science 1995;267:381-3.
    • (1995) Science , vol.267 , pp. 381-383
    • Santoro, M.1    Carlomagno, F.2    Romano, A.3
  • 12
    • 0025000865 scopus 로고
    • The ret proto-oncogene is consistently expressed in human pheochromocytomas and thyroid medullary carcinomas
    • Santoro M, Rosati R, Grieco M, et al: The ret proto-oncogene is consistently expressed in human pheochromocytomas and thyroid medullary carcinomas. Oncogene 1990;5:1595-8.
    • (1990) Oncogene , vol.5 , pp. 1595-1598
    • Santoro, M.1    Rosati, R.2    Grieco, M.3
  • 13
    • 0024208663 scopus 로고
    • Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains
    • Takahashi M, Buma Y, Iwamoto T, et al: Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains. Oncogene 1988;3:571-8.
    • (1988) Oncogene , vol.3 , pp. 571-578
    • Takahashi, M.1    Buma, Y.2    Iwamoto, T.3
  • 14
    • 12044258692 scopus 로고
    • Structural analysis of the human ret proto-oncogene using exon trapping
    • Kwok JBJ, Gardner E, Warner JP, et al: Structural analysis of the human ret proto-oncogene using exon trapping. Oncogene 1993;8:2575-82.
    • (1993) Oncogene , vol.8 , pp. 2575-2582
    • Jbj, K.1    Gardner, E.2    Warner, J.P.3
  • 15
    • 9344234978 scopus 로고    scopus 로고
    • Mutations of the ret proto-oncogene in German multiple endocrine neoplasia families: Relation between genotype and phenotype
    • Frank-Raue K, Höppner W, Frilling A, et al: Mutations of the ret proto-oncogene in German multiple endocrine neoplasia families: relation between genotype and phenotype. J Clin Endocrinol Metab 1996;81:1780-3.
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 1780-1783
    • Frank-Raue, K.1    Höppner, W.2    Frilling, A.3
  • 16
    • 0028109496 scopus 로고
    • Clinical value of direct DNA analysis of the RET proto-oncogene in families with multiple endocrine neoplasia type 2A
    • Feldmann GL, Kambouris M, Talpos GB, et al: Clinical value of direct DNA analysis of the RET proto-oncogene in families with multiple endocrine neoplasia type 2A. Surgery 1994;116:1042-7.
    • (1994) Surgery , vol.116 , pp. 1042-1047
    • Feldmann, G.L.1    Kambouris, M.2    Talpos, G.B.3
  • 17
    • 0028851141 scopus 로고
    • Genetic testing in the diagnosis and management of multiple endocrine neoplasia type II
    • Ledger GA, Khosla S, Lindor NM, et al: Genetic testing in the diagnosis and management of multiple endocrine neoplasia type II. Ann Intern Med 1995;122:118-24.
    • (1995) Ann Intern Med , vol.122 , pp. 118-124
    • Ledger, G.A.1    Khosla, S.2    Lindor, N.M.3
  • 18
    • 84995823927 scopus 로고
    • Frequent RET proto-oncogene mutations in multiple endocrine neoplasia type 2A
    • Quadro L, Panariello L, Salvatore D, et al: Frequent RET proto-oncogene mutations in multiple endocrine neoplasia type 2A. J Clin Endocnnol Metab 1994;79: 590-4.
    • (1994) J Clin Endocnnol Metab , vol.79 , pp. 590-594
    • Quadro, L.1    Panariello, L.2    Salvatore, D.3
  • 19
    • 0028061726 scopus 로고
    • Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A
    • Wells SA Jr, Chi DD, Toshima K, et al: Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A. Ann Surg 1994;220:237-50.
    • (1994) Ann Surg , vol.220 , pp. 237-250
    • Wells Jr., S.A.1    Chi, D.D.2    Toshima, K.3
  • 20
    • 0028027543 scopus 로고
    • RET proto-oncogene mutations in French MEN 2A and FMTC families
    • Schuffenecker I, Billaud M, Calender A, et al: RET proto-oncogene mutations in French MEN 2A and FMTC families. Hum Mol Genet 1994;3:1939-43.
    • (1994) Hum Mol Genet , vol.3 , pp. 1939-1943
    • Schuffenecker, I.1    Billaud, M.2    Calender, A.3
  • 21
    • 0031695617 scopus 로고    scopus 로고
    • RET proto-oncogene mutations in patients with apparently sporadic medullary thyroid carcinoma
    • Huang CN, Wu SL, Chang TC, et al: RET proto-oncogene mutations in patients with apparently sporadic medullary thyroid carcinoma. J Formos Med Assoc 1998;8:541-6.
    • (1998) J Formos Med Assoc , vol.8 , pp. 541-546
    • Huang, C.N.1    Wu, S.L.2    Chang, T.C.3
  • 22
    • 0028088256 scopus 로고
    • Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A
    • Lips CJ, Landsvater RM, Höppener JW, et al: Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A. N Engl J Med 1994; 331:828-35.
    • (1994) N Engl J Med , vol.331 , pp. 828-835
    • Lips, C.J.1    Landsvater, R.M.2    Höppener, J.W.3
  • 23
    • 0024323273 scopus 로고
    • Isolation of ret proto-oncogene cDNA with an amino-terminal signal sequence
    • Takahashi M, Buma Y, Hiai H: Isolation of ret proto-oncogene cDNA with an amino-terminal signal sequence. Oncogens 1989;4:805-6.
    • (1989) Oncogens , vol.4 , pp. 805-806
    • Takahashi, M.1    Buma, Y.2    Hiai, H.3
  • 24
    • 0028819736 scopus 로고
    • Medullary thyroid carcinoma: Recent advances and management update
    • Marsh DJ, Learoyd DL, Robinson BG: Medullary thyroid carcinoma: recent advances and management update. Thyroid 1995;5:407-24.
    • (1995) Thyroid , vol.5 , pp. 407-424
    • Marsh, D.J.1    Learoyd, D.L.2    Robinson, B.G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.