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Volumn 90, Issue 11, 2005, Pages 6334-6336

Editorial: Germline variants within RET: Clinical utility or scientific playtoy?

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN RET;

EID: 27744515971     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2005-2030     Document Type: Editorial
Times cited : (18)

References (18)
  • 2
    • 0032894774 scopus 로고    scopus 로고
    • RET proto-oncogene in the development of human cancer
    • Eng C 1999 RET proto-oncogene in the development of human cancer. J Clin Oncol 17:380-393
    • (1999) J Clin Oncol , vol.17 , pp. 380-393
    • Eng, C.1
  • 5
    • 0031843172 scopus 로고    scopus 로고
    • Mutations in the extracellular domain cause RET loss of function by a dominant negative mechanism
    • Cosma MP, Cardone M, Carlomagno F, Colantuoni V 1998 Mutations in the extracellular domain cause RET loss of function by a dominant negative mechanism. Mol Cell Biol 18:3321-3329
    • (1998) Mol Cell Biol , vol.18 , pp. 3321-3329
    • Cosma, M.P.1    Cardone, M.2    Carlomagno, F.3    Colantuoni, V.4
  • 8
    • 0037217482 scopus 로고    scopus 로고
    • A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma
    • Borrego S, Wright FA, Fernandez RM, Williams N, Lopez-Alonso M, Davuluri R, Antinolo G, Eng C 2003 A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma. Am J Hum Genet 72:88-100
    • (2003) Am J Hum Genet , vol.72 , pp. 88-100
    • Borrego, S.1    Wright, F.A.2    Fernandez, R.M.3    Williams, N.4    Lopez-Alonso, M.5    Davuluri, R.6    Antinolo, G.7    Eng, C.8
  • 9
    • 0034839109 scopus 로고    scopus 로고
    • Germline sequence variant S836S in the RET proto-oncogene is associated with low level predisposition to sporadic medullary thyroid carcinoma in the Spanish population
    • Oxf
    • Ruiz A, Antinolo G, Fernandez RM, Eng C, Marcos I, Borrego S 2001 Germline sequence variant S836S in the RET proto-oncogene is associated with low level predisposition to sporadic medullary thyroid carcinoma in the Spanish population. Clin Endocrinol (Oxf) 55:399-402
    • (2001) Clin Endocrinol , vol.55 , pp. 399-402
    • Ruiz, A.1    Antinolo, G.2    Fernandez, R.M.3    Eng, C.4    Marcos, I.5    Borrego, S.6
  • 10
    • 0033545406 scopus 로고    scopus 로고
    • Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation
    • Gimm O, Neuberg DS, Marsh DJ, Dahia PL, Hoang-Vu C, Raue F, Hinze R, Dralle H, Eng C 1999 Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation. Oncogene 18:1369-1373
    • (1999) Oncogene , vol.18 , pp. 1369-1373
    • Gimm, O.1    Neuberg, D.S.2    Marsh, D.J.3    Dahia, P.L.4    Hoang-Vu, C.5    Raue, F.6    Hinze, R.7    Dralle, H.8    Eng, C.9
  • 11
    • 26444442065 scopus 로고    scopus 로고
    • Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN
    • Agrawal S, Pilarski R, Eng C 2005 Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN. Hum Mol Genet 14:2459-2468
    • (2005) Hum Mol Genet , vol.14 , pp. 2459-2468
    • Agrawal, S.1    Pilarski, R.2    Eng, C.3
  • 12
    • 0031741050 scopus 로고    scopus 로고
    • Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung disease
    • Borrego S, Eng C, Sanchez B, Saez ME, Navarro E, AntinoloG1998 Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung disease. J Clin Endocrinol Metab 83:3361-3364
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 3361-3364
    • Borrego, S.1    Eng, C.2    Sanchez, B.3    Saez, M.E.4    Navarro, E.5    Antinolo, G.6
  • 13
    • 2442750413 scopus 로고    scopus 로고
    • Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression
    • Borrego S, Saez ME, Ruiz A, Gimm O, Lopez-Alonso M, Antinolo G, Eng C 1999 Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression. J Med Genet 36:771-774
    • (1999) J Med Genet , vol.36 , pp. 771-774
    • Borrego, S.1    Saez, M.E.2    Ruiz, A.3    Gimm, O.4    Lopez-Alonso, M.5    Antinolo, G.6    Eng, C.7
  • 16
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    • RET exon 11 (G691S) polymorphism is significantly more frequent in sporadic medullary thyroid carcinoma than in the general population
    • Elisei R, Cosci B, Romei C, Bottici V, Sculli M, Lari R, Barale R, Pacini F, Pinchera A 2004 RET exon 11 (G691S) polymorphism is significantly more frequent in sporadic medullary thyroid carcinoma than in the general population. J Clin Endocrinol Metab 89:3579-3584
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 3579-3584
    • Elisei, R.1    Cosci, B.2    Romei, C.3    Bottici, V.4    Sculli, M.5    Lari, R.6    Barale, R.7    Pacini, F.8    Pinchera, A.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.