메뉴 건너뛰기




Volumn 8, Issue 2, 2004, Pages 163-168

Description of the first two seemingly unrelated Greek Cypriot families with a common C618R RET proto-oncogene mutation

Author keywords

[No Author keywords available]

Indexed keywords

CALCITONIN; CARCINOEMBRYONIC ANTIGEN; PROTEIN RET; TUMOR MARKER;

EID: 4143105645     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2004.8.163     Document Type: Article
Times cited : (10)

References (27)
  • 1
    • 0028838086 scopus 로고
    • Mechanism of activation of the RET proto-oncogene by multiple endocrine neoplasia 2A mutations
    • ASAI, N., IWASHITA, T., MITSUYAMA, M., et al. (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    Mitsuyama, M.3
  • 2
    • 85047682409 scopus 로고    scopus 로고
    • Guidelines for diagnosis and therapy of MEN type 1 and MEN type 2
    • BRANDI, M.L., GAGEL, R.F., ANGELI, A., et al. (2001). Guidelines for diagnosis and therapy of MEN type 1 and MEN type 2. J. Clin. Endocr. Metab. 86, 5658-5671.
    • (2001) J. Clin. Endocr. Metab. , vol.86 , pp. 5658-5671
    • Brandi, M.L.1    Gagel, R.F.2    Angeli, A.3
  • 3
    • 0017054250 scopus 로고
    • Alimentary-tract ganglioneuromatosis. A major component of the syndrome of multiple endocrine neoplasia, type 2B
    • CARNEY, J.A., GO, V.L., SIZEMORE, G.W., et al. (1976). Alimentary-tract ganglioneuromatosis. A major component of the syndrome of multiple endocrine neoplasia, type 2B. N. Engl. J. Med. 295, 1287-1291.
    • (1976) N. Engl. J. Med. , vol.295 , pp. 1287-1291
    • Carney, J.A.1    Go, V.L.2    Sizemore, G.W.3
  • 4
    • 0024958177 scopus 로고
    • Familial cutaneous lichen amyloidosis in association with multiple endocrine neoplasia type 2A: A new variant
    • DONOVAN, D.T., LEVY, M.L., FURST, E.J., et al. (1989). Familial cutaneous lichen amyloidosis in association with multiple endocrine neoplasia type 2A: a new variant. Henry Ford Hosp. Med. J. 37, 147-150.
    • (1989) Henry Ford Hosp. Med. J. , vol.37 , pp. 147-150
    • Donovan, D.T.1    Levy, M.L.2    Furst, E.J.3
  • 5
    • 15844422453 scopus 로고    scopus 로고
    • GDNF signaling through the ret receptor tyrosine kinase
    • DURBEC, P., MARCOS GUTIERREZ, C.V., KILKENNY, C., et al. (1996). GDNF signaling 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
  • 6
    • 0027972513 scopus 로고
    • Mutations of the RET proto-oncogene in Hirchsprung's disease
    • EDERY, G., LYONNET, S., MULLIGAN, L.M., et al. (1994). Mutations of the RET proto-oncogene in Hirchsprung's disease. Nature 367, 378-380.
    • (1994) Nature , vol.367 , pp. 378-380
    • Edery, G.1    Lyonnet, S.2    Mulligan, L.M.3
  • 7
    • 0030896418 scopus 로고    scopus 로고
    • Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and Hirchsprung's disease
    • ENG, C., and MULLIGAN, L.M. (1997). Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and Hirchsprung's disease. Hum. Mutat. 9, 97-109.
    • (1997) Hum. Mutat. , vol.9 , pp. 97-109
    • Eng, C.1    Mulligan, L.M.2
  • 8
    • 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., SHUFFENECKER, 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. J. Am. Med. Assn. 276, 1575-1579.
    • (1996) J. Am. Med. Assn. , vol.276 , pp. 1575-1579
    • Eng, C.1    Clayton, D.2    Shuffenecker, I.3
  • 9
    • 0022535165 scopus 로고
    • Familial medullary thyroid carcinoma without associated endocrinopathies: A distinct clinical entity
    • FARDON, J.R., LEIGHT, G.S., DILLEY, W.G., et al. (1986). Familial medullary thyroid carcinoma without associated endocrinopathies: a distinct clinical entity. Br. J. Surg. 73, 278-281.
    • (1986) Br. J. Surg. , vol.73 , pp. 278-281
    • Fardon, J.R.1    Leight, G.S.2    Dilley, W.G.3
  • 10
    • 0029812442 scopus 로고    scopus 로고
    • Diagnosis and mamnagement of pheochromocytomas in patients with multiple endocrine neoplasia type 2: Relevance of specific mutations in the RET protooncogene
    • FRANK-RAW, K., KRUTT, T., HOPPNER, W., et al. (1996). Diagnosis and mamnagement of pheochromocytomas in patients with multiple endocrine neoplasia type 2: relevance of specific mutations in the RET protooncogene. Eur. J. Endocrinol. 135, 222-225.
    • (1996) Eur. J. Endocrinol. , vol.135 , pp. 222-225
    • Frank-Raw, K.1    Krutt, T.2    Hoppner, W.3
  • 11
    • 0023871596 scopus 로고
    • The clinical outcome of prospective screening for multiple endocrine neoplasia type 2a: An 18-year experience
    • GAGEL, R.F., TASHJIAN, A.H., JR., CUMMINGS, T., et al. (1988). The clinical outcome of prospective screening for multiple endocrine neoplasia type 2a: an 18-year experience. N. Engl. J. Med. 318, 478-484.
    • (1988) N. Engl. J. Med. , vol.318 , pp. 478-484
    • Gagel, R.F.1    Tashjian Jr., A.H.2    Cummings, T.3
  • 12
    • 0028174024 scopus 로고
    • A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma
    • HOFSTRA, R.M., LANDSVATER, R.M., CECCHERINI, I., et al. (1994). A 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.1    Landsvater, R.M.2    Ceccherini, I.3
  • 13
    • 0032421405 scopus 로고    scopus 로고
    • Loss of heterozygocity in polycystic kidney disease with a missense mutation in the repeated region of PKD1
    • KOPTIDES, M., CONSTANTINIDES, R., PATSALIS, C. P., et al. (1998). Loss of heterozygocity in polycystic kidney disease with a missense mutation in the repeated region of PKD1. Hum. Genet. 1031, 709-717.
    • (1998) Hum. Genet. , vol.1031 , pp. 709-717
    • Koptides, M.1    Constantinides, R.2    Patsalis, C.P.3
  • 14
    • 0023228919 scopus 로고
    • Deletion of genes on chromosome 1 in endocrine neoplasia
    • MATHEW, C.P.G., SMITH, B.A., THORPE, K., et al. (1987). Deletion of genes on chromosome 1 in endocrine neoplasia. Nature 328, 524-526.
    • (1987) Nature , vol.328 , pp. 524-526
    • Mathew, C.P.G.1    Smith, B.A.2    Thorpe, K.3
  • 15
    • 0028199074 scopus 로고
    • Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC
    • MULLIGAN, L.M., ENG, C., HEALY, C.S., et al. (1994). Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nature Genet. 6, 70-74.
    • (1994) Nature Genet. , vol.6 , pp. 70-74
    • Mulligan, L.M.1    Eng, C.2    Healy, C.S.3
  • 16
    • 0024507252 scopus 로고
    • Hereditary localized prurittus in affected members of a kindred with multiple endocrine neoplasia type 2A
    • NUNZIATA, V., GIANNATTASIO, R., DI GIOVANNI, G., et al. (1989). Hereditary localized prurittus in affected members of a kindred with multiple endocrine neoplasia type 2A. Clin. Endocrinol. 30, 57-63.
    • (1989) Clin. Endocrinol. , vol.30 , pp. 57-63
    • Nunziata, V.1    Giannattasio, R.2    Giovanni, D.I.3
  • 17
    • 0027522721 scopus 로고
    • Poorly differentiated thyroid carcinomas with primordial cell component. A group of aggressive lesions showing insular, trabecular and solid patterens
    • PAPOTTI, M., BOTTO MICCA, F., FAVERO, A., et al. (1993). Poorly differentiated thyroid carcinomas with primordial cell component. A group of aggressive lesions showing insular, trabecular and solid patterens. Am. J. Surg. Pathol. 17, 291-301.
    • (1993) Am. J. Surg. Pathol. , vol.17 , pp. 291-301
    • Papotti, M.1    Botto Micca, F.2    Favero, A.3
  • 18
    • 0033119329 scopus 로고    scopus 로고
    • The phenotypes associated with RET mutation sin the multiple endocrine neoplasia type 2 syndrome
    • PONDER, B.A.J. (1999). The phenotypes associated with RET mutation sin the multiple endocrine neoplasia type 2 syndrome. Cancer Res. 59, 1736-1742.
    • (1999) Cancer Res. , vol.59 , pp. 1736-1742
    • Ponder, B.A.J.1
  • 19
    • 0000941906 scopus 로고    scopus 로고
    • Multiple endocrine neoplasia type 2
    • C.R. Scriver, A.L. Beaudet, W.S. Sly, and D. Valle, (eds.). McGraw-Hill, New York
    • th ed. C.R. Scriver, A.L. Beaudet, W.S. Sly, and D. Valle, (eds.). McGraw-Hill, New York pp. 931-942.
    • (2001) th Ed. , pp. 931-942
    • Ponder, B.A.J.1
  • 20
    • 0028914683 scopus 로고
    • Germ line mutations of MEN 2A and MEN 2B activate RET as dominant transforming gene by different molecular mechanisms
    • SANTORO, M., CARLOMAGNO, F., ROMANO, A., et al. (1995). Germ line mutations of MEN 2A and MEN 2B activate RET as dominant transforming gene by different molecular mechanisms. Science 267, 381-383.
    • (1995) Science , vol.267 , pp. 381-383
    • Santoro, M.1    Carlomagno, F.2    Romano, A.3
  • 21
    • 15144343501 scopus 로고
    • Le Groupe D'Etude des Tumeurs a Calcitonine: Risk and penetrance of primary hyperparathyroidism in multiple endocrine neoplasia type 2A families with mutations at codon 634 of the RET proto-oncogene
    • SCHUFFENECKER, I., VIRALLY-MONOD, M., and BROHET, R. (1988). Le Groupe D'Etude des Tumeurs a Calcitonine: risk and penetrance of primary hyperparathyroidism in multiple endocrine neoplasia type 2A families with mutations at codon 634 of the RET proto-oncogene. J. Clin. Endocrinol. Metab. 83, 487-491.
    • (1988) J. Clin. Endocrinol. Metab. , vol.83 , pp. 487-491
    • Schuffenecker, I.1    Virally-Monod, M.2    Brohet, R.3
  • 22
    • 0023204382 scopus 로고
    • Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage
    • SIMPSON, N.E., KIDD, K.K., GOODFELLOW, P.J., et al. (1987). Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage. Nature 328, 528-530.
    • (1987) Nature , vol.328 , pp. 528-530
    • Simpson, N.E.1    Kidd, K.K.2    Goodfellow, P.J.3
  • 23
    • 0014331669 scopus 로고
    • Study of a kindred with pheochromocytoma, medullary carcinoma, hyperparathyroidism and Cushing's disease: Multiple Endocrine Neoplasia type 2
    • STEINER, A.L., GOODMAN, A.D., and POWERS, S.R. (1968). Study of a kindred with pheochromocytoma, medullary carcinoma, hyperparathyroidism and Cushing's disease: Multiple Endocrine Neoplasia type 2. Medicine 47, 371-409.
    • (1968) Medicine , vol.47 , pp. 371-409
    • Steiner, A.L.1    Goodman, A.D.2    Powers, S.R.3
  • 24
    • 15844418441 scopus 로고    scopus 로고
    • Characterization of a multicomponent receptor for GDNF
    • TREANOR, J.J., GOODMAN, L., DeSAUVAGE, F., et al. (1996). Characterization of a multicomponent receptor for GDNF. Nature 382, 80-83.
    • (1996) Nature , vol.382 , pp. 80-83
    • Treanor, J.J.1    Goodman, L.2    Desauvage, F.3
  • 25
    • 15844406351 scopus 로고    scopus 로고
    • Functional receptor for GDNF encoded by c-RET proto-oncogene
    • TRUPP, M., ARENAS, E., FAINZILBER, M., etal. (1996). Functional receptor for GDNF encoded by c-RET proto-oncogene. Nature 381, 785-789.
    • (1996) Nature , vol.381 , pp. 785-789
    • Trupp, M.1    Arenas, E.2    Fainzilber, M.3
  • 26
    • 0020314519 scopus 로고
    • Hirchsprung's disease in a family with multiple endocrine neoplasia type 2
    • VERDY, M., WEBER, A.M., ROY, C.C., et al. (1982). Hirchsprung's disease in a family with multiple endocrine neoplasia type 2. J. Pediatr. Gastroenterol. Nutr. 1, 603-607.
    • (1982) J. Pediatr. Gastroenterol. Nutr. , vol.1 , pp. 603-607
    • Verdy, M.1    Weber, A.M.2    Roy, C.C.3
  • 27
    • 0013874091 scopus 로고
    • Multiple mucosal neuromata with endocrine tumours: A syndrome allied to Von Recklighausen's disease
    • WILLIAMS, E.D., and POLLOCK, D.J. (1966). Multiple mucosal neuromata with endocrine tumours: a syndrome allied to Von Recklighausen's disease. J. Pathol. Bacteriol. 91, 71-80.
    • (1966) J. Pathol. Bacteriol. , vol.91 , pp. 71-80
    • Williams, E.D.1    Pollock, D.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.