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Volumn 51, Issue 2, 2006, Pages 98-103

Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk

Author keywords

Folate metabolism; MTHFD1; Neural tube defects; Single nucleotide polymorphism

Indexed keywords

METHYLENETETRAHYDROFOLATE DEHYDROGENASE;

EID: 31544464705     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-005-0329-6     Document Type: Article
Times cited : (68)

References (24)
  • 1
    • 0034190659 scopus 로고    scopus 로고
    • 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: A HuGE review
    • Botto LD, Yang Q (2000) 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Am J Epidemiol 151:862-877
    • (2000) Am J Epidemiol , vol.151 , pp. 862-877
    • Botto, L.D.1    Yang, Q.2
  • 2
    • 18644379774 scopus 로고    scopus 로고
    • A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyl-tetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects. Report of the Birth Defects Research Group
    • Brody LC, Conley M, Cox C, Kirke PN, McKeever MP, Mills JL, Molloy AM, O'Leary VB, Parle-McDernott A, Scott JM, Swanson DA (2002) A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyl-tetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects. Report of the Birth Defects Research Group. Am J Hum Genet 71:1207-1215
    • (2002) Am J Hum Genet , vol.71 , pp. 1207-1215
    • Brody, L.C.1    Conley, M.2    Cox, C.3    Kirke, P.N.4    McKeever, M.P.5    Mills, J.L.6    Molloy, A.M.7    O'Leary, V.B.8    Parle-McDernott, A.9    Scott, J.M.10    Swanson, D.A.11
  • 3
    • 0027080461 scopus 로고
    • Prevention of the first occurence of neural-tube defects by periconceptional vitamin supplementation
    • Czeizel A, Dudas I (1992) Prevention of the first occurence of neural-tube defects by periconceptional vitamin supplementation. N Engl J Med 327:1832-1835
    • (1992) N Engl J Med , vol.327 , pp. 1832-1835
    • Czeizel, A.1    Dudas, I.2
  • 5
    • 0031969348 scopus 로고    scopus 로고
    • Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyl-tetrahydrofolate synthetase) in patients with neural tube defects
    • Hol FA, van der Put NM, Geurds MP, Heil SG, Trijbels FJ, Harnel BC, Mariman EC, Blom HJ (1998) Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate dehydrogenase- methenyltetrahydrofolate cyclohydrolase-formyl-tetrahydrofolate synthetase) in patients with neural tube defects. Clin Genet 53:119-125
    • (1998) Clin Genet , vol.53 , pp. 119-125
    • Hol, F.A.1    Van Der Put, N.M.2    Geurds, M.P.3    Heil, S.G.4    Trijbels, F.J.5    Harnel, B.C.6    Mariman, E.C.7    Blom, H.J.8
  • 6
    • 0023787347 scopus 로고
    • Primary structure of a human trifunctional enzyme. Isolation of a cDNA encoding methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyl-tetrahydrofolate synthetase
    • Hum DW, Bell AW, Rozen R, Mackenzie RE (1988) Primary structure of a human trifunctional enzyme. Isolation of a cDNA encoding methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyl-tetrahydrofolate synthetase. J Biol Chem 263:15946-15950
    • (1988) J Biol Chem , vol.263 , pp. 15946-15950
    • Hum, D.W.1    Bell, A.W.2    Rozen, R.3    Mackenzie, R.E.4
  • 7
    • 0033808685 scopus 로고    scopus 로고
    • Folic acid: Nutritional biochemistry, molecular biology, and role in disease processes
    • Lucock M (2000) Folic acid: nutritional biochemistry, molecular biology, and role in disease processes. Mol Genet Metab 71:121-138
    • (2000) Mol Genet Metab , vol.71 , pp. 121-138
    • Lucock, M.1
  • 8
    • 0026223590 scopus 로고
    • The descriptive epidemiology of congenital defects at birth in Italy
    • Mastroiacovo PP, Bianchi F (1991) The descriptive epidemiology of congenital defects at birth in Italy. Epidemiol Prev 13:94-103
    • (1991) Epidemiol Prev , vol.13 , pp. 94-103
    • Mastroiacovo, P.P.1    Bianchi, F.2
  • 9
    • 0022378021 scopus 로고
    • NAD-dependent methylenetetrahydrofolate dehydrogenase is expressed by mortal cells
    • Mejia NR, Mackenzie RE (1985) NAD-dependent methylenetetrahydrofolate dehydrogenase is expressed by mortal cells. J Biol Chem 260:14616-14620
    • (1985) J Biol Chem , vol.260 , pp. 14616-14620
    • Mejia, N.R.1    Mackenzie, R.E.2
  • 11
    • 0016288477 scopus 로고
    • Proportion of disease caused or prevented by a given exposure, trait or intervention
    • Miettinen OS (1974) Proportion of disease caused or prevented by a given exposure, trait or intervention. Am J Epidemiol 99:325-332
    • (1974) Am J Epidemiol , vol.99 , pp. 325-332
    • Miettinen, O.S.1
  • 12
    • 0030938599 scopus 로고    scopus 로고
    • Differentiating between fetal and maternal genotypic effects, using the transmission test for linkage disequilibrium
    • Mithchell LE (1997) Differentiating between fetal and maternal genotypic effects, using the transmission test for linkage disequilibrium. Am J Hum Genet 60:1006-1007
    • (1997) Am J Hum Genet , vol.60 , pp. 1006-1007
    • Mithchell, L.E.1
  • 14
    • 0031429097 scopus 로고    scopus 로고
    • Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects
    • Mornet E, Muller F, Lenvoisè-Furet A, Delezoide AL, Col JY, Simon-Bouy B, Serre JL (1997) Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects. Hum Genet 100:512-514
    • (1997) Hum Genet , vol.100 , pp. 512-514
    • Mornet, E.1    Muller, F.2    Lenvoisè-Furet, A.3    Delezoide, A.L.4    Col, J.Y.5    Simon-Bouy, B.6    Serre, J.L.7
  • 15
    • 0000188340 scopus 로고
    • Prevention of neural tube defects. Results of the MRC Vitamin Study
    • MRC Vitamin Study Research Group (1991) Prevention of neural tube defects. Results of the MRC Vitamin Study. Lancet 2:131-137
    • (1991) Lancet , vol.2 , pp. 131-137
  • 16
    • 0029886679 scopus 로고    scopus 로고
    • Methylenetetrahydrofolate reductase and neural tube defects
    • Papapetrou C, Linch SA, Burn J, Edwards YH (1996) Methylenetetrahydrofolate reductase and neural tube defects. Lancet 348:58
    • (1996) Lancet , vol.348 , pp. 58
    • Papapetrou, C.1    Linch, S.A.2    Burn, J.3    Edwards, Y.H.4
  • 17
    • 0242353316 scopus 로고    scopus 로고
    • Human mitochondrial C1-tetrahydrofolate synthase: Gene structure, tissue distribution of the mRNA, and immunolocalization in Chinese hamster ovary cells
    • Prasannan P, Pike S, Peng K, Shane B, Appling D (2003) Human mitochondrial C1-tetrahydrofolate synthase: gene structure, tissue distribution of the mRNA, and immunolocalization in Chinese hamster ovary cells. J Biol Chem 278:43178-43187
    • (2003) J Biol Chem , vol.278 , pp. 43178-43187
    • Prasannan, P.1    Pike, S.2    Peng, K.3    Shane, B.4    Appling, D.5
  • 18
    • 0034054165 scopus 로고    scopus 로고
    • A unified approach to adjusting association tests for population admixture with arbitrary pedigree structure and arbitrary missing marker information
    • Rabinowitz D, Laird N (2000) A unified approach to adjusting association tests for population admixture with arbitrary pedigree structure and arbitrary missing marker information. Hum Heredity 50:211-223
    • (2000) Hum Heredity , vol.50 , pp. 211-223
    • Rabinowitz, D.1    Laird, N.2
  • 19
    • 0024327033 scopus 로고
    • Chromosomal localization of the gene for the human trifunctional enzyme, methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyl-tetrahydrofolate synthetase
    • Rozen R, Barton D, Du J, Hum DW, MacKenzie RE, Francke U (1989) Chromosomal localization of the gene for the human trifunctional enzyme, methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyl-tetrahydrofolate synthetase. Am J Hum Genet 44:781-786
    • (1989) Am J Hum Genet , vol.44 , pp. 781-786
    • Rozen, R.1    Barton, D.2    Du, J.3    Hum, D.W.4    MacKenzie, R.E.5    Francke, U.6
  • 20
    • 0141893992 scopus 로고    scopus 로고
    • Genotype frequencies and linkage disequilibrium in the CEPH human diversity panel for variants in folate pathway genes MTHFR, MTHFD, MTRR, RFC1, and GCP2
    • Shi M, Caprau D, Romitti P, Christensen K, Murray JC (2003) Genotype frequencies and linkage disequilibrium in the CEPH human diversity panel for variants in folate pathway genes MTHFR, MTHFD, MTRR, RFC1, and GCP2. Birth Defects Res A 67:545-549
    • (2003) Birth Defects Res A , vol.67 , pp. 545-549
    • Shi, M.1    Caprau, D.2    Romitti, P.3    Christensen, K.4    Murray, J.C.5
  • 21
    • 0031215455 scopus 로고    scopus 로고
    • The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians
    • Speer MC, Worley G, Mackey JF, Melvin E, Oakes WJ, George TM (1997) The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians. Neurogenetics 1:149-150
    • (1997) Neurogenetics , vol.1 , pp. 149-150
    • Speer, M.C.1    Worley, G.2    Mackey, J.F.3    Melvin, E.4    Oakes, W.J.5    George, T.M.6
  • 22
    • 0027377799 scopus 로고
    • Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus (IDDM)
    • Spielman RS, McGinnis RE, Ewens WJ (1993) Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 52:506-516
    • (1993) Am J Hum Genet , vol.52 , pp. 506-516
    • Spielman, R.S.1    McGinnis, R.E.2    Ewens, W.J.3
  • 23
    • 0033168224 scopus 로고    scopus 로고
    • Transmission disequilibrium test (TDT) when only one parent is available: The 1-TDT
    • Sun F, Flanders WD, Yang Q, Khoury MJ (1999) Transmission disequilibrium test (TDT) when only one parent is available: the 1-TDT. Am J Epidemiol 150:97-104
    • (1999) Am J Epidemiol , vol.150 , pp. 97-104
    • Sun, F.1    Flanders, W.D.2    Yang, Q.3    Khoury, M.J.4
  • 24
    • 0017576548 scopus 로고    scopus 로고
    • Methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyl-tetrahydrofolate synthetase; a multifunctional protein from porcine liver
    • Tan LU, Drury EJ, Mackenzie RE (1997) Methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyl-tetrahydrofolate synthetase; a multifunctional protein from porcine liver. J Biol Chem 252:1117-1122
    • (1997) J Biol Chem , vol.252 , pp. 1117-1122
    • Tan, L.U.1    Drury, E.J.2    Mackenzie, R.E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.