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Volumn 12, Issue 6, 2010, Pages 757-764

A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; PROTEIN MLH1; RNA;

EID: 78049372048     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2010.090240     Document Type: Article
Times cited : (7)

References (46)
  • 1
    • 1042290354 scopus 로고    scopus 로고
    • Testing guidelines for hereditary non-polyposis colorectal cancer
    • Umar A, Risinger JI, Hawk ET, Barrett JC: Testing guidelines for hereditary non-polyposis colorectal cancer. Nat Rev Cancer 2004, 4:153-158
    • (2004) Nat Rev Cancer , vol.4 , pp. 153-158
    • Umar, A.1    Risinger, J.I.2    Hawk, E.T.3    Barrett, J.C.4
  • 2
    • 0037390446 scopus 로고    scopus 로고
    • The hereditary nonpolyposis colorectal cancer syndrome: Genetics and clinical implications
    • Chung DC, Rustgi AK: The hereditary nonpolyposis colorectal cancer syndrome: genetics and clinical implications. Ann Intern Med 2003, 138:560-570
    • (2003) Ann Intern Med , vol.138 , pp. 560-570
    • Chung, D.C.1    Rustgi, A.K.2
  • 5
    • 0031017268 scopus 로고    scopus 로고
    • Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines
    • Kane MF, Loda M, Gaida GM, Lipman J, Mishra R, Goldman H, Jessup JM, Kolodner R: Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines. Cancer Res 1997, 57:808-811
    • (1997) Cancer Res , vol.57 , pp. 808-811
    • Kane, M.F.1    Loda, M.2    Gaida, G.M.3    Lipman, J.4    Mishra, R.5    Goldman, H.6    Jessup, J.M.7    Kolodner, R.8
  • 13
    • 0036838922 scopus 로고    scopus 로고
    • Transient mismatch repair gene transfection for functional analysis of genetic hMLH1 and hMSH2 variants
    • Brieger A, Trojan J, Raedle J, Plotz G, Zeuzem S: Transient mismatch repair gene transfection for functional analysis of genetic hMLH1 and hMSH2 variants. Gut 2002, 51:677-684
    • (2002) Gut , vol.51 , pp. 677-684
    • Brieger, A.1    Trojan, J.2    Raedle, J.3    Plotz, G.4    Zeuzem, S.5
  • 14
    • 38949099144 scopus 로고    scopus 로고
    • The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation
    • Perera S, Bapat B: The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation. Hum Mutat 2008, 29:332
    • (2008) Hum Mutat , vol.29 , pp. 332
    • Perera, S.1    Bapat, B.2
  • 17
    • 10044254337 scopus 로고    scopus 로고
    • Genetic variants of the human H+/dipeptide transporter PEPT2: Analysis of haplotype functions
    • Pinsonneault J, Nielsen CU, Sadee W: Genetic variants of the human H+/dipeptide transporter PEPT2: analysis of haplotype functions. J Pharmacol Exp Ther 2004, 311:1088-1096
    • (2004) J Pharmacol Exp Ther , vol.311 , pp. 1088-1096
    • Pinsonneault, J.1    Nielsen, C.U.2    Sadee, W.3
  • 18
    • 25444491710 scopus 로고    scopus 로고
    • Allelic expression imbalance of human mu opioid receptor (OPRM1) caused by variant A118G
    • Zhang Y, Wang D, Johnson AD, Papp AC, Sadee W: Allelic expression imbalance of human mu opioid receptor (OPRM1) caused by variant A118G. J Biol Chem 2005, 280:32618-32624
    • (2005) J Biol Chem , vol.280 , pp. 32618-32624
    • Zhang, Y.1    Wang, D.2    Johnson, A.D.3    Papp, A.C.4    Sadee, W.5
  • 19
    • 15244359122 scopus 로고    scopus 로고
    • Detection of allelic imbalance in the gene expression of hMSH2 or RB1 in lymphocytes from pedigrees of hereditary, nonpolyposis, colorectal cancer, and retinoblastoma by an RNA difference plot
    • Murakami Y, Isogai K, Tomita H, Sakurai-Yageta M, Maruyama T, Hidaka A, Nose K, Sugano K, Kaneko A: Detection of allelic imbalance in the gene expression of hMSH2 or RB1 in lymphocytes from pedigrees of hereditary, nonpolyposis, colorectal cancer, and retinoblastoma by an RNA difference plot. J Hum Genet 2004, 49:635-641
    • (2004) J Hum Genet , vol.49 , pp. 635-641
    • Murakami, Y.1    Isogai, K.2    Tomita, H.3    Sakurai-Yageta, M.4    Maruyama, T.5    Hidaka, A.6    Nose, K.7    Sugano, K.8    Kaneko, A.9
  • 23
    • 57049084529 scopus 로고    scopus 로고
    • A large novel deletion in the APC promoter region causes gene silencing and leads to classical familial adenomatous polyposis in a Manitoba Mennonite kindred
    • Charames GS, Ramyar L, Mitri A, Berk T, Cheng H, Jung J, Bocangel P, Chodirker B, Greenberg C, Spriggs E, Bapat B: A large novel deletion in the APC promoter region causes gene silencing and leads to classical familial adenomatous polyposis in a Manitoba Mennonite kindred. Hum Genet 2008, 124:535-541
    • (2008) Hum Genet , vol.124 , pp. 535-541
    • Charames, G.S.1    Ramyar, L.2    Mitri, A.3    Berk, T.4    Cheng, H.5    Jung, J.6    Bocangel, P.7    Chodirker, B.8    Greenberg, C.9    Spriggs, E.10    Bapat, B.11
  • 30
    • 0036917617 scopus 로고    scopus 로고
    • An intronic polymorphism of the hMLH1 gene contributes toward incomplete genetic testing for HNPCC
    • Andrew SE, Whiteside D, Buzin C, Greenberg C, Spriggs E: An intronic polymorphism of the hMLH1 gene contributes toward incomplete genetic testing for HNPCC. Genet Test 2002, 6:319-322
    • (2002) Genet Test , vol.6 , pp. 319-322
    • Andrew, S.E.1    Whiteside, D.2    Buzin, C.3    Greenberg, C.4    Spriggs, E.5
  • 36
    • 0035444994 scopus 로고    scopus 로고
    • Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae
    • Ellison AR, Lofing J, Bitter GA: Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae. Hum Mol Genet 2001, 10:1889-1900
    • (2001) Hum Mol Genet , vol.10 , pp. 1889-1900
    • Ellison, A.R.1    Lofing, J.2    Bitter, G.A.3
  • 38
    • 33749411195 scopus 로고    scopus 로고
    • In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects
    • Lastella P, Surdo NC, Resta N, Guanti G, Stella A: In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects. BMC Genomics 2006, 7:243
    • (2006) BMC Genomics , vol.7 , pp. 243
    • Lastella, P.1    Surdo, N.C.2    Resta, N.3    Guanti, G.4    Stella, A.5
  • 39
    • 32644459732 scopus 로고    scopus 로고
    • Truncation of the C-terminus of human MLH1 blocks intracellular stabilization of PMS2 and disrupts DNA mismatch repair
    • Amst
    • Mohd AB, Palama B, Nelson SE, Tomer G, Nguyen M, Huo X, Buermeyer AB: Truncation of the C-terminus of human MLH1 blocks intracellular stabilization of PMS2 and disrupts DNA mismatch repair. DNA Repair (Amst) 2006, 5:347-361
    • (2006) DNA Repair , vol.5 , pp. 347-361
    • Mohd, A.B.1    Palama, B.2    Nelson, S.E.3    Tomer, G.4    Nguyen, M.5    Huo, X.6    Buermeyer, A.B.7
  • 43
    • 0030882381 scopus 로고    scopus 로고
    • Mutations predisposing to hereditary nonpolyposis colorectal cancer: Database and results of a collaborative study
    • The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer
    • Peltomaki P, Vasen HF: Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer Gastroenterology 1997, 113:1146-1158
    • (1997) Gastroenterology , vol.113 , pp. 1146-1158
    • Peltomaki, P.1    Vasen, H.F.2
  • 44
    • 0032837376 scopus 로고    scopus 로고
    • Nonsense-mediated mRNA decay in health and disease
    • Frischmeyer PA, Dietz HC: Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet 1999, 8:1893-1900
    • (1999) Hum Mol Genet , vol.8 , pp. 1893-1900
    • Frischmeyer, P.A.1    Dietz, H.C.2
  • 46
    • 16644372812 scopus 로고    scopus 로고
    • RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1
    • Sharp A, Pichert G, Lucassen A, Eccles D: RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1. Hum Mutat 2004, 24:272
    • (2004) Hum Mutat , vol.24 , pp. 272
    • Sharp, A.1    Pichert, G.2    Lucassen, A.3    Eccles, D.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.