메뉴 건너뛰기




Volumn 83, Issue 2, 1998, Pages 487-491

Risk and penetrance of primary hyperparathyroidism in multiple endocrine neoplasia type 2A families with mutations at codon 634 of the RET proto- oncogene

(16)  Schuffenecker, Isabelle a,n   Virally Monod, Marie b   Brohet, Richard c   Goldgar, David c   Conte Devolx, Bernard d   Leclerc, Laurence e   Chabre, Olivier f   Boneu, Andree g   Caron, Jean h   Houdent, Chantal i   Modigliani, Elisabeth j   Rohmer, Vincent k   Schlumberger, Martin l   Eng, Charis m,o   Guillausseau, Pierre Jean b   Lenoir, Gilbert Marcel a  


Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM;

EID: 15144343501     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.83.2.487     Document Type: Article
Times cited : (185)

References (32)
  • 1
    • 0029557987 scopus 로고
    • Mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2
    • Oxford: Oxford University Press
    • Ponder BAJ. 1995 Mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2. In: Imperial Cancer Research Foundation, ed. Cancer Surveys. Vol 25. Oxford: Oxford University Press; 195-204.
    • (1995) Imperial Cancer Research Foundation, Ed. Cancer Surveys , vol.25 , pp. 195-204
    • Ponder, B.A.J.1
  • 3
    • 15144349283 scopus 로고
    • Primary hyperparathyroidism and multiple endocrine neoplasia
    • Barbier J, Henry JF, eds. Paris: Springer-Verlag
    • Kraimps JL, Barbier J. 1992 Primary hyperparathyroidism and multiple endocrine neoplasia. In: Barbier J, Henry JF, eds. Primary hyperparathyroidism. Paris: Springer-Verlag; 131-138.
    • (1992) Primary Hyperparathyroidism , pp. 131-138
    • Kraimps, J.L.1    Barbier, J.2
  • 4
    • 0027136050 scopus 로고
    • Prevalence of pheochromocytoma and hyperparathyroidism in multiple endocrine neoplasia type 2A: Results of longterm follow-up
    • Howe JR, Norton JA, Wells Jr SA. 1993 Prevalence of pheochromocytoma and hyperparathyroidism in multiple endocrine neoplasia type 2A: results of longterm follow-up. Surgery. 114:1070-1077.
    • (1993) Surgery , vol.114 , pp. 1070-1077
    • Howe, J.R.1    Norton, J.A.2    Wells Jr., S.A.3
  • 5
    • 0002123734 scopus 로고
    • Clinical management of parathyroid disease in MEN 2
    • Bilezikian JP, Lewine LA, Marcus R, eds. New York: Raven Press, Ltd
    • Gagel RF. 1994 Clinical management of parathyroid disease in MEN 2. In: Bilezikian JP, Lewine LA, Marcus R, eds. The parathyroids. New York: Raven Press, Ltd; 681-698.
    • (1994) The Parathyroids , pp. 681-698
    • Gagel, R.F.1
  • 6
    • 0027146601 scopus 로고
    • Surgical management of primary hyperparathyroidism in multiple endocrine neoplasias type 1 and 2
    • O'Riordan DS, O'Brien T, Grant CS, et al. 1993 Surgical management of primary hyperparathyroidism in multiple endocrine neoplasias type 1 and 2. Surgery. 114:1031-1039.
    • (1993) Surgery , vol.114 , pp. 1031-1039
    • O'Riordan, D.S.1    O'Brien, T.2    Grant, C.S.3
  • 7
    • 0028865592 scopus 로고
    • Primary hyperparathyroidism in multiple endocrine neoplasia type 2A
    • Raue F, Kraimps JL, Cougard P, et al. 1995 Primary hyperparathyroidism in multiple endocrine neoplasia type 2A. J Intern Med. 238:369-373.
    • (1995) J Intern Med , vol.238 , pp. 369-373
    • Raue, F.1    Kraimps, J.L.2    Cougard, P.3
  • 8
    • 0029833719 scopus 로고    scopus 로고
    • Primary hyperparathyroidism in multiple endocrine neoplasia type 2A. A retrospective French multicentric study on 56 cases by the GETC
    • Kraimps JL, Denizot A, Carnaille B, et al. 1996 Primary hyperparathyroidism in multiple endocrine neoplasia type 2A. A retrospective French multicentric study on 56 cases by the GETC. World J Surg. 20:808-813.
    • (1996) World J Surg , vol.20 , pp. 808-813
    • Kraimps, J.L.1    Denizot, A.2    Carnaille, B.3
  • 9
    • 0028215743 scopus 로고
    • Management of hyperparathyroidism in the multiple endocrine neoplasia syndromes and other familial endocrinopathies
    • Mallette LE. 1994 Management of hyperparathyroidism in the multiple endocrine neoplasia syndromes and other familial endocrinopathies. Endocrinol Metab Clin North Am. 23:137-156.
    • (1994) Endocrinol Metab Clin North Am , vol.23 , pp. 137-156
    • Mallette, L.E.1
  • 10
    • 15844422453 scopus 로고    scopus 로고
    • GDNF signalling through the RET receptor tyrosine kinase
    • Durbec P, Marcos-Gutierrez CV, Kilkenny C, et al. 1996 GDNF signalling through the RET receptor tyrosine kinase. Nature. 381:789-793.
    • (1996) Nature , vol.381 , pp. 789-793
    • Durbec, P.1    Marcos-Gutierrez, C.V.2    Kilkenny, C.3
  • 11
    • 15844365303 scopus 로고    scopus 로고
    • GDNF-induced activation of the RET protein kinase is mediated by GDNFR-α, a novel receptor for GDNF
    • Jing S, Weng D, Yu Y, et al. 1996 GDNF-induced activation of the RET protein kinase is mediated by GDNFR-α, a novel receptor for GDNF. Cell. 85:1113-1124.
    • (1996) Cell , vol.85 , pp. 1113-1124
    • Jing, S.1    Weng, D.2    Yu, Y.3
  • 12
    • 15844406351 scopus 로고    scopus 로고
    • Functional receptor for glial cell line-derived neurotrophic factor (GDNF) encoded by the c-ret proto-oncogene
    • Trupp M, Arenas E, Fainzilber M, et al. 1996 Functional receptor for glial cell line-derived neurotrophic factor (GDNF) encoded by the c-ret proto-oncogene. Nature. 381:785-789.
    • (1996) Nature , vol.381 , pp. 785-789
    • Trupp, M.1    Arenas, E.2    Fainzilber, M.3
  • 13
    • 0027977002 scopus 로고
    • Single missense mutation in the tyrosine kinase catalytic domain of the RET proto-oncogene is associated with multiple endocrine neoplasia type 2B
    • Carlson KM, Dou S, Chi D, et al. 1994 Single missense mutation in the tyrosine kinase catalytic domain of the RET proto-oncogene is associated with multiple endocrine neoplasia type 2B. Proc Natl Acad Sci USA. 91:1579-1583.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 1579-1583
    • Carlson, K.M.1    Dou, S.2    Chi, D.3
  • 14
    • 0028006092 scopus 로고
    • Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours
    • Eng C, Smith DP, Mulligan LM, et al. 1994 Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. Hum Mol Genet. 3:237-241.
    • (1994) Hum Mol Genet , vol.3 , pp. 237-241
    • Eng, C.1    Smith, D.P.2    Mulligan, L.M.3
  • 15
    • 0028174024 scopus 로고
    • Mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma
    • Hofstra RMW, Landsvater RM, Ceccherini I, et al. 1994 Mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature. 367:375-376.
    • (1994) Nature , vol.367 , pp. 375-376
    • Hofstra, R.M.W.1    Landsvater, R.M.2    Ceccherini, I.3
  • 16
    • 0028953446 scopus 로고
    • Detection of a germline mutation at codon 918 of the RET proto-oncogene in French MEN 2B families
    • Rossel M, Schuffenecker I, Schlumberger M, et al. 1995 Detection of a germline mutation at codon 918 of the RET proto-oncogene in French MEN 2B families. Hum Genet. 95:403-406.
    • (1995) Hum Genet , vol.95 , pp. 403-406
    • Rossel, M.1    Schuffenecker, I.2    Schlumberger, M.3
  • 17
    • 4644256817 scopus 로고    scopus 로고
    • The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2: International RET Mutation Consortium analysis
    • Eng C, Clayton D, Schuffenecker I, et al. 1996 The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2: International RET Mutation Consortium analysis. JAMA. 276:1575-1579.
    • (1996) JAMA , vol.276 , pp. 1575-1579
    • Eng, C.1    Clayton, D.2    Schuffenecker, I.3
  • 18
    • 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. 1993 Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature. 363:458-460.
    • (1993) Nature , vol.363 , pp. 458-460
    • Mulligan, L.M.1    Kwok, J.B.J.2    Healey, C.S.3
  • 19
    • 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. 1994 Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet. 6:70-74.
    • (1994) Nat Genet , vol.6 , pp. 70-74
    • Mulligan, L.M.1    Eng, C.2    Healey, C.S.3
  • 20
    • 0028027543 scopus 로고
    • RET proto-oncogene mutations in French MEN 2A and FMTC families
    • Schuffenecker I, Billaud M, Calender A, et al. 1994 RET proto-oncogene mutations in French MEN 2A and FMTC families. Hum Mol Genet. 3:1939-1943.
    • (1994) Hum Mol Genet , vol.3 , pp. 1939-1943
    • Schuffenecker, I.1    Billaud, M.2    Calender, A.3
  • 21
    • 0028838075 scopus 로고
    • A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC
    • Eng C, Smith DP, Mulligan LM, et al. 1995 A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC. Oncogene. 10:509-513.
    • (1995) Oncogene , vol.10 , pp. 509-513
    • Eng, C.1    Smith, D.P.2    Mulligan, L.M.3
  • 22
    • 0029002147 scopus 로고
    • RET mutations in exons 13 and 14 patients
    • Bolino A, Schuffenecker I, Luo Y, et al. 1995 RET mutations in exons 13 and 14 patients. Oncogene. 10:2415-2419.
    • (1995) Oncogene , vol.10 , pp. 2415-2419
    • Bolino, A.1    Schuffenecker, I.2    Luo, Y.3
  • 23
    • 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. 1995 Activation of RET as a dominant transforming gene by germline mutations of MEN 2A and MEN 2B. Science. 267:381-383.
    • (1995) Science , vol.267 , pp. 381-383
    • Santoro, M.1    Carlomagno, F.2    Romano, A.3
  • 24
    • 0028838086 scopus 로고
    • Mechanism of activation of the Ret proto-oncogene by multiple endocrine neoplasia 2A mutations
    • Asai N, Iwashita T, Matsuyama M, Takahashi M. 1995 Mechanism of activation of the Ret proto-oncogene by multiple endocrine neoplasia 2A mutations. Mol Cell Biol. 15:1613-1619.
    • (1995) Mol Cell Biol , vol.15 , pp. 1613-1619
    • Asai, N.1    Iwashita, T.2    Matsuyama, M.3    Takahashi, M.4
  • 25
    • 13344286328 scopus 로고
    • RET activation by germline MEN2A and MEN2B mutations
    • Borrello MG, Smith DP, Pasini B, et al. 1995 RET activation by germline MEN2A and MEN2B mutations. Oncogene. 11:2419-2427.
    • (1995) Oncogene , vol.11 , pp. 2419-2427
    • Borrello, M.G.1    Smith, D.P.2    Pasini, B.3
  • 26
    • 8044253411 scopus 로고    scopus 로고
    • Distinct biological properties of two RET isoforms activated by MEN2A/FMTC and MEN2B mutations
    • Rossel M, Pasini A, Chappuis S, et al. 1997 Distinct biological properties of two RET isoforms activated by MEN2A/FMTC and MEN2B mutations. Oncogene. 14:265-275.
    • (1997) Oncogene , vol.14 , pp. 265-275
    • Rossel, M.1    Pasini, A.2    Chappuis, S.3
  • 27
    • 8544278897 scopus 로고    scopus 로고
    • Oncogenic activation of RET by two distinct mutations affecting the tyrosine kinase domain
    • Pasini A, Geneste O, Legrand P, et al. 1997 Oncogenic activation of RET by two distinct mutations affecting the tyrosine kinase domain. Oncogene. 15:393-402.
    • (1997) Oncogene , vol.15 , pp. 393-402
    • Pasini, A.1    Geneste, O.2    Legrand, P.3
  • 28
    • 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. 1996 Mutations of the Ret proto-oncogene in German multiple endocrine neoplasia families: relation between genotype and phenotype. J Clin Endocrinol Metab. 81:1780-1783.
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 1780-1783
    • Frank-Raue, K.1    Höppner, W.2    Frilling, A.3
  • 29
    • 0028196667 scopus 로고
    • Direct non-radioactive detection of mutations in multiple endocrine neoplasia type 2A families
    • McMahon R, Mulligan LM, Healey CS, et al. 1994 Direct non-radioactive detection of mutations in multiple endocrine neoplasia type 2A families. Hum Mol Genet. 3:643-646.
    • (1994) Hum Mol Genet , vol.3 , pp. 643-646
    • McMahon, R.1    Mulligan, L.M.2    Healey, C.S.3
  • 30
    • 0028088256 scopus 로고
    • Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A
    • Lips CJM, Landsvater RM, Höppener JWM, et al. 1994 Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A. N Engl J Med. 29:828-835.
    • (1994) N Engl J Med , vol.29 , pp. 828-835
    • Lips, C.J.M.1    Landsvater, R.M.2    Höppener, J.W.M.3
  • 31
    • 0028851141 scopus 로고
    • Genetic testing in the diagnosis and management of multiple endocrine neoplasia type II
    • Ledger GA, Khosla S, Lindor NM, et al. 1995 Genetic testing in the diagnosis and management of multiple endocrine neoplasia type II. Ann Intern Med. 122:118-124.
    • (1995) Ann Intern Med , vol.122 , pp. 118-124
    • Ledger, G.A.1    Khosla, S.2    Lindor, N.M.3
  • 32
    • 0030899160 scopus 로고    scopus 로고
    • Multipe endocrine neoplasia type 2: Management of patients and subjects at-risk
    • Conte-Devolx B, Schuffenecker I, Niccoli P, et al. 1997 Multipe endocrine neoplasia type 2: management of patients and subjects at-risk. Horm Res. 47:221-226.
    • (1997) Horm Res , vol.47 , pp. 221-226
    • Conte-Devolx, B.1    Schuffenecker, I.2    Niccoli, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.