메뉴 건너뛰기




Volumn 2, Issue 2, 2004, Pages

Germline Missense Changes in the APC Gene and Their Relationship to Disease

Author keywords

APC; colorectal cancer; missense; mutations

Indexed keywords


EID: 33745280776     PISSN: 17312302     EISSN: 18974287     Source Type: Journal    
DOI: 10.1186/1897-4287-2-2-81     Document Type: Article
Times cited : (8)

References (28)
  • 1
    • 0028886309 scopus 로고
    • Colorectal cancer genetics. Closing the gap between genotype and phenotype
    • 1:STN:280:DyaK283itlaquw%3D%3D
    • J.A. Bufill Colorectal cancer genetics. Closing the gap between genotype and phenotype Cancer (Phila.); 1995 76 2389 2392 10.1002/1097-0142(19951215)76:12<2389::AID-CNCR2820761202>3.0.CO;2-B 1:STN:280:DyaK283itlaquw%3D%3D
    • (1995) Cancer (Phila.); , vol.76 , pp. 2389-2392
    • Bufill, J.A.1
  • 4
    • 0022810104 scopus 로고
    • Gardner syndrome in a man with an interstitial deletion of 5q
    • 1:STN:280:DyaL2s%2FntlGisA%3D%3D, 3789010
    • L. Herrera S. Kakati L. Gibas E. Pietrzak A.A. Sandberg Gardner syndrome in a man with an interstitial deletion of 5q Am J Med Genet 1986 25 473 476 10.1002/ajmg.1320250309 1:STN:280:DyaL2s%2FntlGisA%3D%3D 3789010
    • (1986) Am J Med Genet , vol.25 , pp. 473-476
    • Herrera, L.1    Kakati, S.2    Gibas, L.3    Pietrzak, E.4    Sandberg, A.A.5
  • 6
    • 0025941471 scopus 로고
    • Identification of deletion mutations and three new genes at the familial polyposis locus
    • 1:STN:280:DyaK3MzjtVejtQ%3D%3D, 1678319
    • G. Joslyn M. Carlson A. Thliveris H. Albertsen L. Gelbert W. Samowitz J. Groden J. Stevens L. Spirio M. Robertson et al. Identification of deletion mutations and three new genes at the familial polyposis locus Cell 1991 66 601 613 10.1016/0092-8674(81)90022-2 1:STN:280:DyaK3MzjtVejtQ%3D%3D 1678319
    • (1991) Cell , vol.66 , pp. 601-613
    • Joslyn, G.1    Carlson, M.2    Thliveris, A.3    Albertsen, H.4    Gelbert, L.5    Samowitz, W.6    Groden, J.7    Stevens, J.8    Spirio, L.9    Robertson, M.10
  • 10
    • 0029664368 scopus 로고    scopus 로고
    • Binding of GSK3β to the APC-β-Catenin complex and regulation of complex assembly
    • 1:CAS:528:DyaK28XjtVejsrs%3D, 8638126
    • B. Rubinfeld I. Albert E. Porfiri C. Fiol S. Munemitsu P. Polakis Binding of GSK3β to the APC-β-Catenin complex and regulation of complex assembly Science 1996 272 1023 1026 10.1126/science.272.5264.1023 1:CAS:528:DyaK28XjtVejsrs%3D 8638126
    • (1996) Science , vol.272 , pp. 1023-1026
    • Rubinfeld, B.1    Albert, I.2    Porfiri, E.3    Fiol, C.4    Munemitsu, S.5    Polakis, P.6
  • 14
    • 0028289053 scopus 로고
    • Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test
    • 8020934
    • R.D. Luijt RVan der P.M. Khan H. Vasen C. van Leeuwen C. Tops P. Roest J. den Dunnen R. Fodde Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test Genomics 1994 20 1 4 10.1006/geno.1994.1119 8020934
    • (1994) Genomics , vol.20 , pp. 1-4
    • Luijt, R.D.1    Khan, P.M.2    Vasen, H.3    van Leeuwen, C.4    Tops, C.5    Roest, P.6    den Dunnen, J.7    Fodde, R.8
  • 15
    • 0035057699 scopus 로고    scopus 로고
    • The ABC of APC
    • 1:CAS:528:DC%2BD3MXjt1ajsb0%3D, 11257105, 10.1093/hmg/
    • N.S. Fearnhead M.P. Britton W.F. Bodmer The ABC of APC Hum Mol Genet 2001 10 721 733 10.1093/hmg/10.7.721 1:CAS:528:DC%2BD3MXjt1ajsb0%3D 11257105
    • (2001) Hum Mol Genet , vol.10 , pp. 721-733
    • Fearnhead, N.S.1    Britton, M.P.2    Bodmer, W.F.3
  • 16
    • 0035487662 scopus 로고    scopus 로고
    • Mutation analysis of the adenomatous polyposis coli (APC) gene in northwest Spanish patients with familial adenomatous polyposis (FAP) and sporadic colorectal cancer
    • Online
    • C. Ruiz-Ponte A. Vega A. Carracedo F. Barros Mutation analysis of the adenomatous polyposis coli (APC) gene in northwest Spanish patients with familial adenomatous polyposis (FAP) and sporadic colorectal cancer Hum Mut 2001 Online.
    • (2001) Hum Mut
    • Ruiz-Ponte, C.1    Vega, A.2    Carracedo, A.3    Barros, F.4
  • 19
    • 85199570264 scopus 로고    scopus 로고
    • ICG-HNPCC
    • ICG-HNPCC[http://www.nfdht.nl/database/mdbchoice.htm]
  • 21
    • 0000036322 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • S.A. Miller D.D. Dykes H. Polesky A simple salting out procedure for extracting DNA from human nucleated cells Nucleic Acids Res 1988 53 739
    • (1988) Nucleic Acids Res , vol.53 , pp. 739
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.3
  • 22
    • 0035085396 scopus 로고    scopus 로고
    • the Hunter Family Cancer Service. Familial adenomatous polyposis: more evidence for disease diversity and genetic heterogeneity
    • 1728257, 1:STN:280:DC%2BD3M3hs1Okug%3D%3D, 11247895
    • R.J. Scott C. Meldrum R. Crooks A.D. Spigelman J. Kirk K. Tucker D. Koorey the Hunter Family Cancer Service. Familial adenomatous polyposis: more evidence for disease diversity and genetic heterogeneity Gut 2001 48 508 514 1728257 10.1136/gut.48.4.508 1:STN:280:DC%2BD3M3hs1Okug%3D%3D 11247895
    • (2001) Gut , vol.48 , pp. 508-514
    • Scott, R.J.1    Meldrum, C.2    Crooks, R.3    Spigelman, A.D.4    Kirk, J.5    Tucker, K.6    Koorey, D.7
  • 23
    • 0001588586 scopus 로고    scopus 로고
    • Haplotype analysis in population-based association studies
    • A.P. Mander Haplotype analysis in population-based association studies Stata Journal 2002 1 58 75
    • (2002) Stata Journal , vol.1 , pp. 58-75
    • Mander, A.P.1
  • 25
    • 0029131334 scopus 로고
    • Rapid detection of rare variants and common polymorphisms in the APC gene by PCR-SSCP for presymptomatic diagnosis and showing allele loss
    • 1050555, 1:CAS:528:DyaK2MXnsVens7Y%3D, 7562975
    • S.A. Gayther R. Sud D. Wells K. Tsioupra J.D.A. Delhanty Rapid detection of rare variants and common polymorphisms in the APC gene by PCR-SSCP for presymptomatic diagnosis and showing allele loss J Med Genet 1995 32 568 571 1050555 10.1136/jmg.32.7.568 1:CAS:528:DyaK2MXnsVens7Y%3D 7562975
    • (1995) J Med Genet , vol.32 , pp. 568-571
    • Gayther, S.A.1    Sud, R.2    Wells, D.3    Tsioupra, K.4    Delhanty, J.D.A.5
  • 26
    • 0033790502 scopus 로고    scopus 로고
    • Overexpression of beta-catenin induces apoptosis independent of its transactivation function with LEF-1 or the involvement of major G1 cell cycle regulators
    • 15010, 1:CAS:528:DC%2BD3cXnslWntLw%3D, 11029052
    • K. Kim K.M. Pang M. Evans E.D. Hay Overexpression of beta-catenin induces apoptosis independent of its transactivation function with LEF-1 or the involvement of major G1 cell cycle regulators Mol Biol Cell 2000 11 3509 23 15010 10.1091/mbc.11.10.3509 1:CAS:528:DC%2BD3cXnslWntLw%3D 11029052
    • (2000) Mol Biol Cell , vol.11 , pp. 3509-3523
    • Kim, K.1    Pang, K.M.2    Evans, M.3    Hay, E.D.4
  • 27
    • 0037096906 scopus 로고    scopus 로고
    • The "just-right" signaling model: APC somatic mutations are selected based on a specific level of activation of the β-catenin signaling cascade
    • 1:CAS:528:DC%2BD38XltVyrsL0%3D, 12045208
    • C. Albuquerque C. Breukel R.D. Luijt Rvan der P. Fidalgo P. Lage F.J. Slors C.N. Leitao R. Fodde R. Smits The "just-right" signaling model: APC somatic mutations are selected based on a specific level of activation of the β-catenin signaling cascade Hum Mol Genet 2002 11 1549 1560 10.1093/hmg/11.13.1549 1:CAS:528:DC%2BD38XltVyrsL0%3D 12045208
    • (2002) Hum Mol Genet , vol.11 , pp. 1549-1560
    • Albuquerque, C.1    Breukel, C.2    Luijt, R.D.3    Fidalgo, P.4    Lage, P.5    Slors, F.J.6    Leitao, C.N.7    Fodde, R.8    Smits, R.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.