메뉴 건너뛰기




Volumn 13, Issue 1, 2000, Pages 20-33

Molecular biology of 5,10-methylenetetrahydrofolate reductase

Author keywords

Biochemistry; Disease causing mutations; Folate; Genetics; Homocysteine; Methylenetetrahydrofolate reductase; Polymorphisms

Indexed keywords

5 METHYLTETRAHYDROFOLIC ACID; FOLIC ACID; HOMOCYSTEINE; METHIONINE; METHYLENETETRAHYDROFOLATE DEHYDROGENASE;

EID: 1642586763     PISSN: 11218428     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (178)

References (111)
  • 1
    • 0015228022 scopus 로고
    • Mammalian methylenetetrahydrofolate reductase. Partial purification, properties, and inhibition by S-adenosylmethionine
    • Kutzbach C, Stokstad EL. Mammalian methylenetetrahydrofolate reductase. Partial purification, properties, and inhibition by S-adenosylmethionine. Biochim Biophys Acta 1971; 250: 459-77.
    • (1971) Biochim Biophys Acta , vol.250 , pp. 459-477
    • Kutzbach, C.1    Stokstad, E.L.2
  • 2
    • 0013454162 scopus 로고
    • Isolation of a cDNa for human methylenetetrahydrofolate reductase (MTHFR) and identification of mutations in MTHFR-deficient patients
    • abstract
    • Goyette P, Sumner J, Milos R, Duncan A, Rosenblatt D, Matthews R, Rozen R. Isolation of a cDNA for human methylenetetrahydrofolate reductase (MTHFR) and identification of mutations in MTHFR-deficient patients. Am J Hum Genet 1993; 53: A153 (abstract).
    • (1993) Am J Hum Genet , vol.53
    • Goyette, P.1    Sumner, J.2    Milos, R.3    Duncan, A.4    Rosenblatt, D.5    Matthews, R.6    Rozen, R.7
  • 3
    • 0020478526 scopus 로고
    • Purification and properties of methylenetetrahydrofolate reductase from pig liver
    • Daubner SC, Matthews RG. Purification and properties of methylenetetrahydrofolate reductase from pig liver. J Biol Chem 1982; 257: 140-5.
    • (1982) J Biol Chem , vol.257 , pp. 140-145
    • Daubner, S.C.1    Matthews, R.G.2
  • 4
    • 0012215988 scopus 로고
    • Hematopoietic agents: Growth factors, minerals, and vitamins
    • Goodman Gilman A, Rall TW, Nies AS, Taylor P, eds. Goodman and Gilman's. New York; Pergamon Press
    • Hillman RS. Hematopoietic agents: growth factors, minerals, and vitamins. In: Goodman Gilman A, Rall TW, Nies AS, Taylor P, eds. The pharmacological basis of therapeutics. Goodman and Gilman's. New York; Pergamon Press 1990; 1277-310.
    • (1990) The Pharmacological Basis of Therapeutics , pp. 1277-1310
    • Hillman, R.S.1
  • 5
    • 13144282730 scopus 로고    scopus 로고
    • Cloning and mapping of a cDNa for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria
    • Leclerc D, Wilson A, Dumas R, et al. Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. Proc Natl Acad Sci USA 1998; 95: 3059-64.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 3059-3064
    • Leclerc, D.1    Wilson, A.2    Dumas, R.3
  • 7
    • 0029049553 scopus 로고
    • A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase
    • Frosst P, Blom HJ, Milos R, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995; 10:111-3.
    • (1995) Nat Genet , vol.10 , pp. 111-113
    • Frosst, P.1    Blom, H.J.2    Milos, R.3
  • 8
    • 0031904465 scopus 로고    scopus 로고
    • Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR)
    • Goyette P, Pai A, Milos R, et al. Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR). Mammalian Genome 1998; 9: 652-6.
    • (1998) Mammalian Genome , vol.9 , pp. 652-656
    • Goyette, P.1    Pai, A.2    Milos, R.3
  • 9
    • 1542526985 scopus 로고    scopus 로고
    • Cloning and expression of 5,10 methylenetetrahydrofolate reductase (MTHFR) gene
    • Chen GH, Zhang CH, Zhang XY, et al. Cloning and expression of 5,10 methylenetetrahydrofolate reductase (MTHFR) gene. Science China Series C Life Science 1998; 41: 636-43 .
    • (1998) Science China Series C Life Science , vol.41 , pp. 636-643
    • Chen, G.H.1    Zhang, C.H.2    Zhang, X.Y.3
  • 10
    • 0032573077 scopus 로고    scopus 로고
    • A common mutation in the methylenetetrahydrofolate reductase gene is associated with an accumulation of formylated tetrahydrofolates in red blood cells
    • Bagley PJ, Selhub J. A common mutation in the methylenetetrahydrofolate reductase gene is associated with an accumulation of formylated tetrahydrofolates in red blood cells. Proc Natl Acad Sci USA 1998; 95: 13217-20.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 13217-13220
    • Bagley, P.J.1    Selhub, J.2
  • 11
    • 0030955502 scopus 로고    scopus 로고
    • Thermolabile variant of 5,10 methylenetetrahydrofolate reductase associated with low red-cell folates: Implications for folate intake recommendations
    • Molloy AM, Daly S, Mills JL, et al. Thermolabile variant of 5,10 methylenetetrahydrofolate reductase associated with low red-cell folates: implications for folate intake recommendations. Lancet 1997; 349: 1591-3.
    • (1997) Lancet , vol.349 , pp. 1591-1593
    • Molloy, A.M.1    Daly, S.2    Mills, J.L.3
  • 12
    • 0031971515 scopus 로고    scopus 로고
    • A second common mutation in the methylenetetrahydrofolate reductase gene: An additional risk factor for neural tube defects?
    • van der Put NM, Gabreels F, Stevens EM, et al. A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural tube defects? Am J Hum Genet 1998; 62: 1044-51.
    • (1998) Am J Hum Genet , vol.62 , pp. 1044-1051
    • Van Der Put, N.M.1    Gabreels, F.2    Stevens, E.M.3
  • 13
    • 0031611631 scopus 로고    scopus 로고
    • Whole blood folate values in subjects with different methylenetetrahydrofolate reductase genotypes: Differences between the radioassay and micriobiological assays
    • Molloy AM, Mills JL, Kirke PN, Whitehead AS, Weir DG, Scott JM. Whole blood folate values in subjects with different methylenetetrahydrofolate reductase genotypes: differences between the radioassay and micriobiological assays. Clin Chem 1998; 44: 186-8.
    • (1998) Clin Chem , vol.44 , pp. 186-188
    • Molloy, A.M.1    Mills, J.L.2    Kirke, P.N.3    Whitehead, A.S.4    Weir, D.G.5    Scott, J.M.6
  • 14
    • 0030993597 scopus 로고    scopus 로고
    • Loss of heterozygosity at the 5,10 methylenetetrahydrofolate reductase locus in human ovarian carcinomas
    • Viel A, Dall'Agnese L, Simone F, et al. Loss of heterozygosity at the 5,10 methylenetetrahydrofolate reductase locus in human ovarian carcinomas. Br J Cancer 1997; 75: 1105-10.
    • (1997) Br J Cancer , vol.75 , pp. 1105-1110
    • Viel, A.1    Dall'Agnese, L.2    Simone, F.3
  • 15
    • 0031687887 scopus 로고    scopus 로고
    • A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity
    • Weisberg I, Tran P, Christensen B, Sibani S, Rozen R. A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol Genet Metab 1998; 64: 169-72.
    • (1998) Mol Genet Metab , vol.64 , pp. 169-172
    • Weisberg, I.1    Tran, P.2    Christensen, B.3    Sibani, S.4    Rozen, R.5
  • 16
    • 0031961002 scopus 로고    scopus 로고
    • Worldwide distribution of a common methylenetetrahydrofolate reductase mutation
    • Schneider JA, Rees DC, Liu YT, Clegg JB. Worldwide distribution of a common methylenetetrahydrofolate reductase mutation. Am J Hum Genet 1998; 62: 1258-60.
    • (1998) Am J Hum Genet , vol.62 , pp. 1258-1260
    • Schneider, J.A.1    Rees, D.C.2    Liu, Y.T.3    Clegg, J.B.4
  • 17
    • 0005775025 scopus 로고    scopus 로고
    • The incidence of the gene for thermolabile methylenetetrahydrofolate reductase in African Americans
    • McAndrew PE, Brandt JT, Pearl DK, Prior TW. The incidence of the gene for thermolabile methylenetetrahydrofolate reductase in African Americans. Thromb Res 1996; 83: 195-8.
    • (1996) Thromb Res , vol.83 , pp. 195-198
    • McAndrew, P.E.1    Brandt, J.T.2    Pearl, D.K.3    Prior, T.W.4
  • 18
    • 0031989552 scopus 로고    scopus 로고
    • Methylenetetrahydrofolate reductase gene, dietary folate, NIDDM, and atherosclerosis in Canadian Oji-Cree
    • Hegele RA, Wolever TM, Hanley AJ, Harris SB, Zinman B. Methylenetetrahydrofolate reductase gene, dietary folate, NIDDM, and atherosclerosis in Canadian Oji-Cree. Diabetes Care 1998; 21: 322-3.
    • (1998) Diabetes Care , vol.21 , pp. 322-323
    • Hegele, R.A.1    Wolever, T.M.2    Hanley, A.J.3    Harris, S.B.4    Zinman, B.5
  • 19
    • 2642701740 scopus 로고    scopus 로고
    • Analysis of the 677C→T mutation of the methylenetetrahydrofolate reductase gene in different ethnic groups
    • Franco RF, Araujo AG, Guerreiro JF, Elion J, Zago MA. Analysis of the 677C→T mutation of the methylenetetrahydrofolate reductase gene in different ethnic groups. Thromb Haemost 1998; 79: 119-21.
    • (1998) Thromb Haemost , vol.79 , pp. 119-121
    • Franco, R.F.1    Araujo, A.G.2    Guerreiro, J.F.3    Elion, J.4    Zago, M.A.5
  • 20
    • 0032005443 scopus 로고    scopus 로고
    • C677T (thermolabile alanine/valine) polymorphism in methylenetetrahydrofolate reductase (MTHFR): Its frequency and impact on plasma homocysteine concentration in different European populations
    • Gudnason V, Stansbie D, Scott J, Bowron A, Nicaud V, Humphries S. C677T (thermolabile alanine/valine) polymorphism in methylenetetrahydrofolate reductase (MTHFR): its frequency and impact on plasma homocysteine concentration in different European populations. Atherosclerosis 1998; 136: 347-54.
    • (1998) Atherosclerosis , vol.136 , pp. 347-354
    • Gudnason, V.1    Stansbie, D.2    Scott, J.3    Bowron, A.4    Nicaud, V.5    Humphries, S.6
  • 21
    • 0031778194 scopus 로고    scopus 로고
    • Mutated 5,10-methylenetetrahydrofolate reductase and moderate hyperhomocysteinaemia
    • Blom HJ. Mutated 5,10-methylenetetrahydrofolate reductase and moderate hyperhomocysteinaemia. Eur J Pediatr 1998; 157 (suppl 2): S131-4.
    • (1998) Eur J Pediatr , vol.157 , Issue.2 SUPPL.
    • Blom, H.J.1
  • 23
    • 0029855024 scopus 로고    scopus 로고
    • A methylenetetrahydrofolate reductase polymorphism and the risk of colorectal cancer
    • Chen J, Giovannucci E, Kelsey K, et al. A methylenetetrahydrofolate reductase polymorphism and the risk of colorectal cancer. Cancer Res 1996; 56: 4862-4.
    • (1996) Cancer Res , vol.56 , pp. 4862-4864
    • Chen, J.1    Giovannucci, E.2    Kelsey, K.3
  • 24
    • 0032497941 scopus 로고    scopus 로고
    • Common methylenetetrahydrofolate reductase gene mutation laeds to hyperhomocysteinemia but not to vascular disease. the results of a meta-analysis
    • Brattstrom L, Wilcken DEL, Ohrvik J, Brudin L. Common methylenetetrahydrofolate reductase gene mutation laeds to hyperhomocysteinemia but not to vascular disease. The results of a meta-analysis. Circulation 1998; 98: 2520-6.
    • (1998) Circulation , vol.98 , pp. 2520-2526
    • Brattstrom, L.1    Del, W.2    Ohrvik, J.3    Brudin, L.4
  • 25
    • 0032555167 scopus 로고    scopus 로고
    • Prospective study of coronary artery disease incidence in relation to fasting homocysteine, related genetic polymorphisms, and B vitamins. the Atherosclerosis Risk in Communities (ARIC) Study
    • Folsom AR, Nieto FJ, McGovern PG, et al. Prospective study of coronary artery disease incidence in relation to fasting homocysteine, related genetic polymorphisms, and B vitamins. The Atherosclerosis Risk in Communities (ARIC) Study. Circulation 1998; 98: 204-10.
    • (1998) Circulation , vol.98 , pp. 204-210
    • Folsom, A.R.1    Nieto, F.J.2    McGovern, P.G.3
  • 26
    • 0032420184 scopus 로고    scopus 로고
    • Recent data are not in conflict with homocysteine as a cardiovascular risk factor
    • Refsum H, Ueland PM. Recent data are not in conflict with homocysteine as a cardiovascular risk factor. Curr Opin Lipidol 1998: 9: 533-9.
    • (1998) Curr Opin Lipidol , vol.9 , pp. 533-539
    • Refsum, H.1    Ueland, P.M.2
  • 27
    • 0029066299 scopus 로고
    • A quantitative assessment of plasma homocysteine as a risk factor for vascular disease. Probable benefits of increasing folic acid intakes
    • Boushey CJ, Beresford SA, Omenn GS, Motulsky AG. A quantitative assessment of plasma homocysteine as a risk factor for vascular disease. Probable benefits of increasing folic acid intakes. J Am Med Assoc 1995; 274: 1049-57.
    • (1995) J Am Med Assoc , vol.274 , pp. 1049-1057
    • Boushey, C.J.1    Beresford, S.A.2    Omenn, G.S.3    Motulsky, A.G.4
  • 28
    • 0028845307 scopus 로고
    • Prospective study of serum total homocysteine concentration and risk of stroke in middle-aged British men
    • Perry IJ, Refsum H, Morris RW, Ebrahim SB, Ueland PM, Shaper AG. Prospective study of serum total homocysteine concentration and risk of stroke in middle-aged British men. Lancet 1995; 346: 1395-8.
    • (1995) Lancet , vol.346 , pp. 1395-1398
    • Perry, I.J.1    Refsum, H.2    Morris, R.W.3    Ebrahim, S.B.4    Ueland, P.M.5    Shaper, A.G.6
  • 29
    • 0030880665 scopus 로고    scopus 로고
    • A common polymorphism in the methylenetetrahydrofolate reductase gene, homocysteine, and ischemic cerebrovascular disease
    • Markus HS, Ali N, Swaminathan R, Sankaralingam A, Molloy J, Powell J. A common polymorphism in the methylenetetrahydrofolate reductase gene, homocysteine, and ischemic cerebrovascular disease. Stroke 1997; 28: 1739-13.
    • (1997) Stroke , vol.28 , pp. 1739-1813
    • Markus, H.S.1    Ali, N.2    Swaminathan, R.3    Sankaralingam, A.4    Molloy, J.5    Powell, J.6
  • 31
    • 0033005234 scopus 로고    scopus 로고
    • Genetic analysis of the thermolabile variant of 5,10-methylenetetrahydrofolate reductase as a risk factor for ischemic stroke
    • Harmon DL, Doyle RM, Meleady R, et al. Genetic analysis of the thermolabile variant of 5,10-methylenetetrahydrofolate reductase as a risk factor for ischemic stroke. Arterioscler Thromb Vasc Biol 1999; 19: 208-11.
    • (1999) Arterioscler Thromb Vasc Biol , vol.19 , pp. 208-211
    • Harmon, D.L.1    Doyle, R.M.2    Meleady, R.3
  • 32
    • 0031922606 scopus 로고    scopus 로고
    • Homozygous C677T. mutation of the 5,10 methylenetetrahydrofolate reductase gene and hyperhomocysteinemia in Italian patients with a history of early-onset ischemic stroke
    • letter
    • Soriente L, Coppola A, Madonna P, et al. Homozygous C677T. mutation of the 5,10 methylenetetrahydrofolate reductase gene and hyperhomocysteinemia in Italian patients with a history of early-onset ischemic stroke. Stroke 1998; 29: 869-71. (letter)
    • (1998) Stroke , vol.29 , pp. 869-871
    • Soriente, L.1    Coppola, A.2    Madonna, P.3
  • 33
    • 17344372005 scopus 로고    scopus 로고
    • Methylenetetrahydrofolate reductase gene polymorphism and ischemic stroke in Japanese
    • Monta H, Kurihara H, Tsubaki S, et al. Methylenetetrahydrofolate reductase gene polymorphism and ischemic stroke in Japanese. Arterioscler Thromb Vasc Biol 1998; 18: 1465-9.
    • (1998) Arterioscler Thromb Vasc Biol , vol.18 , pp. 1465-1469
    • Monta, H.1    Kurihara, H.2    Tsubaki, S.3
  • 34
    • 0033556517 scopus 로고    scopus 로고
    • C677T MTHFR mutation and factor V Leiden mutation in patients wth TIa / minor stroke: A case-control study
    • Lalouschek W, Aull S, Series W, et al. C677T MTHFR mutation and factor V Leiden mutation in patients wth TIA / minor stroke: a case-control study. Thromb Res 1999; 93: 61-9.
    • (1999) Thromb Res , vol.93 , pp. 61-69
    • Lalouschek, W.1    Aull, S.2    Series, W.3
  • 35
    • 0031648056 scopus 로고    scopus 로고
    • Opposite effects of plasma homocysteine and the methylenetetrahydrofolate reductase C677T mutation on carotid artery geometry in asymptomatic adults
    • Demuth K, Moatti N, Hanon O, Benoit MO, Safar M, Girerd X. Opposite effects of plasma homocysteine and the methylenetetrahydrofolate reductase C677T mutation on carotid artery geometry in asymptomatic adults. Arterioscler Thromb Vasc Biol 1998; 18: 1838-43.
    • (1998) Arterioscler Thromb Vasc Biol , vol.18 , pp. 1838-1843
    • Demuth, K.1    Moatti, N.2    Hanon, O.3    Benoit, M.O.4    Safar, M.5    Girerd, X.6
  • 36
    • 0022552919 scopus 로고
    • Endothelial cell injury due to copper-catalyzed hydrogen peroxide generation from homocysteine
    • Starkebaum G, Harlan JM. Endothelial cell injury due to copper-catalyzed hydrogen peroxide generation from homocysteine. J Clin Invest 1986; 77: 1370-6.
    • (1986) J Clin Invest , vol.77 , pp. 1370-1376
    • Starkebaum, G.1    Harlan, J.M.2
  • 37
    • 0030610589 scopus 로고    scopus 로고
    • Inhibition of growth and methylation in vascular endothelial cells by homocysteine but not cysteine
    • Wang H, Yoshizumi M, Lai K, et al. Inhibition of growth and methylation in vascular endothelial cells by homocysteine but not cysteine. J Biol Chem 1997; 272: 25380-5.
    • (1997) J Biol Chem , vol.272 , pp. 25380-25385
    • Wang, H.1    Yoshizumi, M.2    Lai, K.3
  • 38
    • 0031035742 scopus 로고    scopus 로고
    • Metabolism of homocysteine thiolactone in human cell cultures: Possible mechanism for pathological consequences of elevated homocysteine levels
    • Jakubowski H. Metabolism of homocysteine thiolactone in human cell cultures: Possible mechanism for pathological consequences of elevated homocysteine levels.J Biol Chem 1997; 272: 1935-42.
    • (1997) J Biol Chem , vol.272 , pp. 1935-1942
    • Jakubowski, H.1
  • 39
    • 0016390789 scopus 로고
    • Homocystinemia: Vascular injury and arterial thrombosis
    • Harker LA, Slichter SJ, Scott CR, Ross R. Homocystinemia: vascular injury and arterial thrombosis. N Engl J Med 1974; 291: 537-43.
    • (1974) N Engl J Med , vol.291 , pp. 537-543
    • Harker, L.A.1    Slichter, S.J.2    Scott, C.R.3    Ross, R.4
  • 40
    • 0017197285 scopus 로고
    • Homocystine-induced arteriosclerosis: The role of endothelial cell injury and platelet response in its genesis
    • Harker LA, Ross R, Slichter SJ, Scott CR. Homocystine-induced arteriosclerosis: the role of endothelial cell injury and platelet response in its genesis. J Clin Invest 1976; 58: 731-41.
    • (1976) J Clin Invest , vol.58 , pp. 731-741
    • Harker, L.A.1    Ross, R.2    Slichter, S.J.3    Scott, C.R.4
  • 41
    • 0030797307 scopus 로고    scopus 로고
    • Hyperhomocysteinemia as a risk factor for arterial and venous disease. a review of evidence and relevance
    • Boers GH. Hyperhomocysteinemia as a risk factor for arterial and venous disease. A review of evidence and relevance. Thromb Haemost 1997; 78: 520-2.
    • (1997) Thromb Haemost , vol.78 , pp. 520-522
    • Boers, G.H.1
  • 42
    • 0032569645 scopus 로고    scopus 로고
    • Meta-analysis of hyperhomocysteinemia as a risk factor for venous thromboembolic disease
    • Ray JG. Meta-analysis of hyperhomocysteinemia as a risk factor for venous thromboembolic disease. Arch Intern Med 1998; 158: 2101-6.
    • (1998) Arch Intern Med , vol.158 , pp. 2101-2106
    • Ray, J.G.1
  • 43
    • 18344398980 scopus 로고    scopus 로고
    • The methylenetetrahydrofolate reductase TT677 genotype is associated with venous thrombosis independently of the coexistence of the FV Leiden and the prothrombin A20210 mutation
    • Margaglione M, D'Andrea G, d'Addedda M, et al. The methylenetetrahydrofolate reductase TT677 genotype is associated with venous thrombosis independently of the coexistence of the FV Leiden and the prothrombin A20210 mutation. Thromb Haemost 1998; 79: 907-11.
    • (1998) Thromb Haemost , vol.79 , pp. 907-911
    • Margaglione, M.1    D'Andrea, G.2    D'Addedda, M.3
  • 44
    • 0033017739 scopus 로고    scopus 로고
    • Single and combined prothrombotic factors in patients with idiopathic venous thromboembolism: Prevalence and risk assessment
    • Salomon O, Steinberg DM, Zivelin A, et al. Single and combined prothrombotic factors in patients with idiopathic venous thromboembolism: prevalence and risk assessment. Arteriosler Thromb Vasc Biol 1999; 19: 511-8.
    • (1999) Arteriosler Thromb Vasc Biol , vol.19 , pp. 511-518
    • Salomon, O.1    Steinberg, D.M.2    Zivelin, A.3
  • 45
    • 0030723480 scopus 로고    scopus 로고
    • The C677T MTHFR variant and the risk of venous thrombosis
    • letter
    • Salden A, Keeney S, Hay CR, Cumming AM. The C677T MTHFR variant and the risk of venous thrombosis. Br J Haematol 1997; 99: 472 (letter).
    • (1997) Br J Haematol , vol.99 , pp. 472
    • Salden, A.1    Keeney, S.2    Hay, C.R.3    Cumming, A.M.4
  • 46
    • 0030844717 scopus 로고    scopus 로고
    • The VITA project: C677T mutation in the methylenetetrahydrofolate reductase gene and risk of venous thromboembolism
    • Tosetto A, Missiaglia E, Frezzato M, Rodeghiero F. The VITA project: C677T mutation in the methylenetetrahydrofolate reductase gene and risk of venous thromboembolism. Br J Haematol 1997; 97: 804-6.
    • (1997) Br J Haematol , vol.97 , pp. 804-806
    • Tosetto, A.1    Missiaglia, E.2    Frezzato, M.3    Rodeghiero, F.4
  • 47
    • 0030760946 scopus 로고    scopus 로고
    • A common mutation in the methylenetetrahydrofolate reductase gene (C677T) increases the risk for deep-vein thrombosis in patients with mutant factor V (factor V: Q506)
    • Cattaneo M, Tsai MY, Bucciarelli P, et al. A common mutation in the methylenetetrahydrofolate reductase gene (C677T) increases the risk for deep-vein thrombosis in patients with mutant factor V (factor V: Q506). Arterioscler Thromb Vasc Biol 1997; 17: 1662-6.
    • (1997) Arterioscler Thromb Vasc Biol , vol.17 , pp. 1662-1666
    • Cattaneo, M.1    Tsai, M.Y.2    Bucciarelli, P.3
  • 49
    • 0032521543 scopus 로고    scopus 로고
    • Homozygous cystathionine beta-synthase deficiency, combined with factor V Leiden or thermolabile methylenetetrahydrofolate reductase in the risk of venous thrombosis
    • Kluijtmans LA, Boers GH, Verbruggen B, Trijbles FJ, Novakova IR, Blom HJ. Homozygous cystathionine beta-synthase deficiency, combined with factor V Leiden or thermolabile methylenetetrahydrofolate reductase in the risk of venous thrombosis. Blood 1998; 91: 2015-8.
    • (1998) Blood , vol.91 , pp. 2015-2018
    • Kluijtmans, L.A.1    Boers, G.H.2    Verbruggen, B.3    Trijbles, F.J.4    Novakova, I.R.5    Blom, H.J.6
  • 50
    • 17344369482 scopus 로고    scopus 로고
    • Hyperhomocyst(e)inemia and a common methylenetetrahydrofolate reductase mutation (MTHFR) in patients with inherited thrombophilic coagulation defects
    • Legnani C, Palareti G, Grauso F, et al. Hyperhomocyst(e)inemia and a common methylenetetrahydrofolate reductase mutation (MTHFR) in patients with inherited thrombophilic coagulation defects. Arterioscler Thromb Vasc Biol 1997; 17: 2924-9.
    • (1997) Arterioscler Thromb Vasc Biol , vol.17 , pp. 2924-2929
    • Legnani, C.1    Palareti, G.2    Grauso, F.3
  • 51
    • 0032946114 scopus 로고    scopus 로고
    • Venous thromboembolic disease and the prothrombin, methylene tetrahydrofolate reductase and factor V genes
    • Alhenc-Gelas M, Arnaud E, Nicaud V, et al. Venous thromboembolic disease and the prothrombin, methylene tetrahydrofolate reductase and factor V genes. Thromb Haemost 1999; 81: 506-10.
    • (1999) Thromb Haemost , vol.81 , pp. 506-510
    • Alhenc-Gelas, M.1    Arnaud, E.2    Nicaud, V.3
  • 52
    • 0032997449 scopus 로고    scopus 로고
    • Low folate levels and thermolabile methylenetetrahydrofolate reductase as primary determinant of mild hyperhomocysteinemia in normal and thromboembolic subjects
    • Gemmati D, Previati M, Serino ML, et al. Low folate levels and thermolabile methylenetetrahydrofolate reductase as primary determinant of mild hyperhomocysteinemia in normal and thromboembolic subjects. Arterioscl Thromb Vasc Biol 1999; 19: 1761-7.
    • (1999) Arterioscl Thromb Vasc Biol , vol.19 , pp. 1761-1767
    • Gemmati, D.1    Previati, M.2    Serino, M.L.3
  • 53
    • 0030779711 scopus 로고    scopus 로고
    • Factor V Leiden and thermolabile methylenetetrahydrofolate reductase in extreme old age
    • Rees DC, Liu YT, Cox MJ, Elliott P, Wainscoat JS. Factor V Leiden and thermolabile methylenetetrahydrofolate reductase in extreme old age. Thromb Haemost 1997; 78: 1357-9.
    • (1997) Thromb Haemost , vol.78 , pp. 1357-1359
    • Rees, D.C.1    Liu, Y.T.2    Cox, M.J.3    Elliott, P.4    Wainscoat, J.S.5
  • 54
    • 0030985690 scopus 로고    scopus 로고
    • Analysis of the apo e / apo C-I, angiotensin converting enzyme and methylenetetrahydrofolate reductase genes as candidates affecting human longevity
    • Galinsky D, Tysoe C, Brayne CE, et al. Analysis of the apo E / apo C-I, angiotensin converting enzyme and methylenetetrahydrofolate reductase genes as candidates affecting human longevity. Atherosclerosis 1997; 129: 177-83.
    • (1997) Atherosclerosis , vol.129 , pp. 177-183
    • Galinsky, D.1    Tysoe, C.2    Brayne, C.E.3
  • 55
    • 0030964910 scopus 로고    scopus 로고
    • MTHFR thermolabile genotype frequencies and longevity in Northern Ireland
    • letter
    • Harmon DL, McMaster D, Shields DC, Whitehead AS, Rea IM. MTHFR thermolabile genotype frequencies and longevity in Northern Ireland. Atheroslerosis 1997; 131: 137-8 (letter).
    • (1997) Atheroslerosis , vol.131 , pp. 137-138
    • Harmon, D.L.1    McMaster, D.2    Shields, D.C.3    Whitehead, A.S.4    Rea, I.M.5
  • 56
    • 0032401552 scopus 로고    scopus 로고
    • A common methylenetetrahydrofolate reductase gene mutation and longevity
    • Brattstrom L, Zhang Y, Hurtig M, et al. A common methylenetetrahydrofolate reductase gene mutation and longevity. Atherosclerosis 1998; 141: 315-9.
    • (1998) Atherosclerosis , vol.141 , pp. 315-319
    • Brattstrom, L.1    Zhang, Y.2    Hurtig, M.3
  • 57
    • 0031458361 scopus 로고    scopus 로고
    • The frequency of the methylenetetrahydrofolate reductase-gene mutation varies with age in the normal population
    • Matsushita S, Muramatsu T, Arai H, Matsui T, Higuchi S. The frequency of the methylenetetrahydrofolate reductase-gene mutation varies with age in the normal population. Am J Hum Genet 1997; 61: 1459-60.
    • (1997) Am J Hum Genet , vol.61 , pp. 1459-1460
    • Matsushita, S.1    Muramatsu, T.2    Arai, H.3    Matsui, T.4    Higuchi, S.5
  • 58
    • 0032987508 scopus 로고    scopus 로고
    • Mortality risk in men is associated with a common mutation in the methylene-tetrahydrofolate reductase gene (MTHFR)
    • Heijmans BT, Gussekloo J, Kluft C, et al. Mortality risk in men is associated with a common mutation in the methylene-tetrahydrofolate reductase gene (MTHFR). Eur J Hum Genet 1999; 7: 197-204.
    • (1999) Eur J Hum Genet , vol.7 , pp. 197-204
    • Heijmans, B.T.1    Gussekloo, J.2    Kluft, C.3
  • 59
    • 0030911897 scopus 로고    scopus 로고
    • Methylenetetrahydrofolate reductase thermolabile variant and human longevity
    • Faure-Delanef L, Quéré I, Chassé JF, et al. Methylenetetrahydrofolate reductase thermolabile variant and human longevity. Am J Hum Genet 1997; 60: 999-1001.
    • (1997) Am J Hum Genet , vol.60 , pp. 999-1001
    • Faure-Delanef, L.1    Quéré, I.2    Chassé, J.F.3
  • 60
    • 0028844492 scopus 로고
    • Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida
    • van der Put NM, Steegers-Theunissen RP, Frosst P, et al. Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet 1995; 346: 1070-1.
    • (1995) Lancet , vol.346 , pp. 1070-1071
    • Van Der Put, N.M.1    Steegers-Theunissen, R.P.2    Frosst, P.3
  • 62
    • 0031017820 scopus 로고    scopus 로고
    • Differences in methylenetetrahydrofolate reductase genotype frequencies, between whites and blacks
    • letter
    • Stevenson RE, Schwartz CE, Du YZ, Adams MJ. Differences in methylenetetrahydrofolate reductase genotype frequencies, between whites and blacks. Am J Hum Genet 1997; 60: 229-30 (letter).
    • (1997) Am J Hum Genet , vol.60 , pp. 229-230
    • Stevenson, R.E.1    Schwartz, C.E.2    Du, Y.Z.3    Adams, M.J.4
  • 63
    • 0031066138 scopus 로고    scopus 로고
    • Is the common 677C→T mutation in the methylenetetrahydrofolate reductase gene a risk factor for neural tube defects? a meta-analysis
    • van der Put NM, Eskes TK, Blom HJ. Is the common 677C→T mutation in the methylenetetrahydrofolate reductase gene a risk factor for neural tube defects? A meta-analysis. Q J Med 1997; 90: 111-5.
    • (1997) Q J Med , vol.90 , pp. 111-115
    • Van Der Put, N.M.1    Eskes, T.K.2    Blom, H.J.3
  • 64
    • 0030018760 scopus 로고    scopus 로고
    • 5,10 methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects
    • Ou CY, Stevenson RE, Brown VK, et al. 5,10 methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. Am J Med Genet 1996; 63: 6104.
    • (1996) Am J Med Genet , vol.63 , pp. 6104
    • Ou, C.Y.1    Stevenson, R.E.2    Brown, V.K.3
  • 65
    • 0030611076 scopus 로고    scopus 로고
    • MTHFR 677C→T mutation, folate intake, neural-tube defect, and risk of cardiovascular disease
    • commentary
    • Wilcken DE. MTHFR 677C→T mutation, folate intake, neural-tube defect, and risk of cardiovascular disease. Lancet 1997; 350: 603 (commentary).
    • (1997) Lancet , vol.350 , pp. 603
    • Wilcken, D.E.1
  • 66
    • 0032581051 scopus 로고    scopus 로고
    • Low blood folates in NTD pregnancies are only partly explained by thermolabile 5,10-methylenetetrahydrofolate reductase: Low folate status alone may be the critical factor
    • Molloy AM, Mills JL, Kirke PN, et al. Low blood folates in NTD pregnancies are only partly explained by thermolabile 5,10-methylenetetrahydrofolate reductase: low folate status alone may be the critical factor. Am J Med Genet 1998; 78: 155-9.
    • (1998) Am J Med Genet , vol.78 , pp. 155-159
    • Molloy, A.M.1    Mills, J.L.2    Kirke, P.N.3
  • 67
    • 0032937206 scopus 로고    scopus 로고
    • Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects
    • Christensen B, Arbour L, Tran B, et al. Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects. Am J Med Genet 1999; 84: 151-7.
    • (1999) Am J Med Genet , vol.84 , pp. 151-157
    • Christensen, B.1    Arbour, L.2    Tran, B.3
  • 68
  • 71
    • 0030743692 scopus 로고    scopus 로고
    • Factor V Leiden, MTHFR polymorphism and genetic susceptibility to preeclampsia
    • Grandone E, Margaglione M, Colaizzo D, et al. Factor V Leiden, MTHFR polymorphism and genetic susceptibility to preeclampsia. Thromb Haemost 1997; 77: 1052-1.
    • (1997) Thromb Haemost , vol.77 , pp. 1052-1061
    • Grandone, E.1    Margaglione, M.2    Colaizzo, D.3
  • 72
    • 0033531184 scopus 로고    scopus 로고
    • Increased frequency of genetic thrombophilia in women with complications of pregnancy
    • Kupferminc MJ, Eldor A, Steinman N, et al. Increased frequency of genetic thrombophilia in women with complications of pregnancy. N Engl J Med 1999; 340: 9.
    • (1999) N Engl J Med , vol.340 , pp. 9
    • Kupferminc, M.J.1    Eldor, A.2    Steinman, N.3
  • 73
    • 0343471524 scopus 로고    scopus 로고
    • Genetic risk factor for unexplained recurrent early pregnancy loss
    • letter
    • Nelen WL, Steegers EA, Eskes TK, Blom HJ. Genetic risk factor for unexplained recurrent early pregnancy loss. Lancet 1997; 350: 861 (letter).
    • (1997) Lancet , vol.350 , pp. 861
    • Nelen, W.L.1    Steegers, E.A.2    Eskes, T.K.3    Blom, H.J.4
  • 74
    • 0031978235 scopus 로고    scopus 로고
    • Methylene tetrahydrofolate reductase (MTHFK) 677 mutation and unexplained early pregnancy loss
    • Grandone E, Margaglione M, Colaizzo D, et al. Methylene tetrahydrofolate reductase (MTHFK) 677 mutation and unexplained early pregnancy loss. Thromb Haemostas 1998; 79: 1056-7.
    • (1998) Thromb Haemostas , vol.79 , pp. 1056-1057
    • Grandone, E.1    Margaglione, M.2    Colaizzo, D.3
  • 75
    • 0031785528 scopus 로고    scopus 로고
    • Infant C677T mutation in MTHFR, maternal periconceptional vitamin use, and cleft lip
    • Shaw GM, Rozen R, Finnell RH, Todoroff K, Lammer EJ. Infant C677T mutation in MTHFR, maternal periconceptional vitamin use, and cleft lip. Am J Med Genet 1998; 80: 196-8.
    • (1998) Am J Med Genet , vol.80 , pp. 196-198
    • Shaw, G.M.1    Rozen, R.2    Finnell, R.H.3    Todoroff, K.4    Lammer, E.J.5
  • 76
    • 0032972632 scopus 로고    scopus 로고
    • Prothrombotic genetic risk factors and the occurence of gestational hypertension with or without proteinuria
    • Grandone E, Margaglione M, Colaizzo D, et al. Prothrombotic genetic risk factors and the occurence of gestational hypertension with or without proteinuria. Thromb Haemost 1999; 81: 349-52.
    • (1999) Thromb Haemost , vol.81 , pp. 349-352
    • Grandone, E.1    Margaglione, M.2    Colaizzo, D.3
  • 77
    • 0031828880 scopus 로고    scopus 로고
    • Methylenetetrahydrofolate reductase polymorphism affects the change in homocysteine and folate concentrations resulting from low dose folic acid supplementation in women with unexplained recurrent miscarriages
    • Nelen WL, Blom HJ, Thomas CM, Steegers EA, Boers GH, Eskes TK. Methylenetetrahydrofolate reductase polymorphism affects the change in homocysteine and folate concentrations resulting from low dose folic acid supplementation in women with unexplained recurrent miscarriages. J Nutrition 1998; 128: 1336-41.
    • (1998) J Nutrition , vol.128 , pp. 1336-1341
    • Nelen, W.L.1    Blom, H.J.2    Thomas, C.M.3    Steegers, E.A.4    Boers, G.H.5    Eskes, T.K.6
  • 78
    • 0032497143 scopus 로고    scopus 로고
    • Methylenetetrahydrofolate reductase gene polymorphism as a risk factor for diabetic nephropathy in NIDDM patients
    • letter
    • Neugebauer S, Baba T, Watanabe T. Methylenetetrahydrofolate reductase gene polymorphism as a risk factor for diabetic nephropathy in NIDDM patients. Lancet 1998; 352: 454 (letter).
    • (1998) Lancet , vol.352 , pp. 454
    • Neugebauer, S.1    Baba, T.2    Watanabe, T.3
  • 79
    • 0030728742 scopus 로고    scopus 로고
    • Association of methylenetetrahydrofolate reductase gene polymorphism with carotid arterial wall thickening and myocardial infarction risk in NIDDM
    • Arai K, Yamasaki Y, Kajimoto Y, et al. Association of methylenetetrahydrofolate reductase gene polymorphism with carotid arterial wall thickening and myocardial infarction risk in NIDDM. Diabetes 1997; 46: 2102-4.
    • (1997) Diabetes , vol.46 , pp. 2102-2104
    • Arai, K.1    Yamasaki, Y.2    Kajimoto, Y.3
  • 80
    • 0033519008 scopus 로고    scopus 로고
    • MTHFR gene polymorphism and diabetic nephropathy in type 1 diabetes
    • Smyth JS, Savage DA, Maxwell AP. MTHFR gene polymorphism and diabetic nephropathy in type 1 diabetes. Lancet 1999; 353: 1156-7.
    • (1999) Lancet , vol.353 , pp. 1156-1157
    • Smyth, J.S.1    Savage, D.A.2    Maxwell, A.P.3
  • 81
    • 18244416187 scopus 로고    scopus 로고
    • Association of methylenetetrahydrofolate reductase gene polymorphism and diabetic nephropathy in type 2 diabetes?
    • Bluthner M, Bruntgens A, Schmidt S, Strojek K, Grzeszczak W, Ritz E. Association of methylenetetrahydrofolate reductase gene polymorphism and diabetic nephropathy in type 2 diabetes? Nephrol Dial Transplant 1999; 14: 56-7.
    • (1999) Nephrol Dial Transplant , vol.14 , pp. 56-57
    • Bluthner, M.1    Bruntgens, A.2    Schmidt, S.3    Strojek, K.4    Grzeszczak, W.5    Ritz, E.6
  • 83
    • 7144226583 scopus 로고    scopus 로고
    • Major determinants of hyperhomocysteinemia in peritoneal dialysis patients
    • Vychytil A, Fodinger M, Wolfl G, et al. Major determinants of hyperhomocysteinemia in peritoneal dialysis patients. Kidney Int 1998; 53: 1775-82.
    • (1998) Kidney Int , vol.53 , pp. 1775-1782
    • Vychytil, A.1    Fodinger, M.2    Wolfl, G.3
  • 84
    • 0030851289 scopus 로고    scopus 로고
    • Mutation (677 C to T) in the methylenetetrahydrofolate reductase gene aggravates hyperhomocysteinemia in hemodialysis patients
    • Födinger M, Mannhalter C, Wolfl G, et al. Mutation (677 C to T) in the methylenetetrahydrofolate reductase gene aggravates hyperhomocysteinemia in hemodialysis patients. Kidney Int 1997: 52: 517-23.
    • (1997) Kidney Int , vol.52 , pp. 517-523
    • Födinger, M.1    Mannhalter, C.2    Wolfl, G.3
  • 85
    • 0031029698 scopus 로고    scopus 로고
    • The (Ala Val) Mutation of methylenetetrahydrofolate reductase as a genetic risk factor for vascular disease in non-insulin-dependent diabetic patients
    • Brulhart MC, Dussoix P, Ruiz J, Passa P, Froguel PH, James RW. The (Ala Val) Mutation of methylenetetrahydrofolate reductase as a genetic risk factor for vascular disease in non-insulin-dependent diabetic patients Am J Hum Genet 1997; 60: 228-9.
    • (1997) Am J Hum Genet , vol.60 , pp. 228-229
    • Brulhart, M.C.1    Dussoix, P.2    Ruiz, J.3    Passa, P.4    Froguel, P.H.5    James, R.W.6
  • 86
    • 0031866088 scopus 로고    scopus 로고
    • A methylenetetrahydrofolate reductase polymorphism is associated with expression of p 16 in human lung cancer
    • Kamiya H, Kawakami K, Miyanaga T, et al. A methylenetetrahydrofolate reductase polymorphism is associated with expression of p 16 in human lung cancer. Oncol Rep 1998; 5: 911-4.
    • (1998) Oncol Rep , vol.5 , pp. 911-914
    • Kamiya, H.1    Kawakami, K.2    Miyanaga, T.3
  • 87
    • 0030615085 scopus 로고    scopus 로고
    • Methylenetetrahydrofolate reductase polymorphism, dietary interactions, and risk of colorectal cancer
    • Ma J, Stampfer MJ, Giovannucci E, et al. Methylenetetrahydrofolate reductase polymorphism, dietary interactions, and risk of colorectal cancer. Cancer Res 1997; 57: 1098-102.
    • (1997) Cancer Res , vol.57 , pp. 1098-1102
    • Ma, J.1    Stampfer, M.J.2    Giovannucci, E.3
  • 89
    • 0031431662 scopus 로고    scopus 로고
    • Germ line polymorphisms in cytochrome-P450 1A1 and methylenetetrahydrofolate reductase (MTHFR) genes and endometrial cancer susceptibility
    • Esteller M, Garcia A, Martinez-Palones JM, Xercavins J, Reventos J. Germ line polymorphisms in cytochrome-P450 1A1 and methylenetetrahydrofolate reductase (MTHFR) genes and endometrial cancer susceptibility. Carcinogenesis 1997; 18: 2307-11.
    • (1997) Carcinogenesis , vol.18 , pp. 2307-2311
    • Esteller, M.1    Garcia, A.2    Martinez-Palones, J.M.3    Xercavins, J.4    Reventos, J.5
  • 90
    • 0016134820 scopus 로고
    • N-5,10-methylenetetrahydrofolate reductase deficiency and schizophrenia: A working hypothesis
    • Mudd SH, Freeman JM. N-5,10-methylenetetrahydrofolate reductase deficiency and schizophrenia: a working hypothesis. J Psychiatr Res 1974; 11: 259-62.
    • (1974) J Psychiatr Res , vol.11 , pp. 259-262
    • Mudd, S.H.1    Freeman, J.M.2
  • 91
    • 0016670730 scopus 로고
    • Folate-responsive homocystinuria and "schizophrenia". a defect in methylation due to a deficient 5,10 methylenetetrahydrofolate reductase activity
    • Freeman JM, Finkelstein JD, Mudd SH. Folate-responsive homocystinuria and "schizophrenia". A defect in methylation due to a deficient 5,10 methylenetetrahydrofolate reductase activity. N Engl J Med 1975; 292: 491-6.
    • (1975) N Engl J Med , vol.292 , pp. 491-496
    • Freeman, J.M.1    Finkelstein, J.D.2    Mudd, S.H.3
  • 94
    • 0031665509 scopus 로고    scopus 로고
    • C677T polymorphism in methylenetetrahydrofolate reductase gene and psychoses
    • Kunugi H, Fukuda R, Hattori M, et al. C677T polymorphism in methylenetetrahydrofolate reductase gene and psychoses. Mol Psychiatr 1998; 3: 435-7.
    • (1998) Mol Psychiatr , vol.3 , pp. 435-437
    • Kunugi, H.1    Fukuda, R.2    Hattori, M.3
  • 95
    • 0032909627 scopus 로고    scopus 로고
    • Allelic association of the MTHFR gene with schizophrenia
    • Wei J, Hammings GP. Allelic association of the MTHFR gene with schizophrenia. Mol Psychiatr 1999; 4: 115-6.
    • (1999) Mol Psychiatr , vol.4 , pp. 115-116
    • Wei, J.1    Hammings, G.P.2
  • 96
    • 10544252271 scopus 로고    scopus 로고
    • Hyperhomocysteinemia confers an independent increased risk of atherosclerosis in end-stage renal disease and is closely linked to plasma folate and pyridoxine concentrations
    • Robinson K, Gupta A, Dennis V, et al. Hyperhomocysteinemia confers an independent increased risk of atherosclerosis in end-stage renal disease and is closely linked to plasma folate and pyridoxine concentrations. Circulation 1996; 94: 74.
    • (1996) Circulation , vol.94 , pp. 74
    • Robinson, K.1    Gupta, A.2    Dennis, V.3
  • 97
    • 0005601318 scopus 로고    scopus 로고
    • Effect of MTHFR 677G→T on plasma total homocysteine levels in renal graft recipients
    • Fodinger M, Wolfl G, Fischer G, et al. Effect of MTHFR 677G→T on plasma total homocysteine levels in renal graft recipients. Kidney Int 1999; 1072-80.
    • (1999) Kidney Int , pp. 1072-1080
    • Fodinger, M.1    Wolfl, G.2    Fischer, G.3
  • 99
    • 18144447640 scopus 로고    scopus 로고
    • The effect of a common methylenetetrahydrofolate reductase mutation on levels of homocysteine, folate, vitamin B12 and on the risk of premature atherosclerosis
    • Verhoeff BJ, Trip MD, Prins MH, Kastelein JJP, Reitsma PH. The effect of a common methylenetetrahydrofolate reductase mutation on levels of homocysteine, folate, vitamin B12 and on the risk of premature atherosclerosis. Atherosclerosis 1998; 141: 161-6.
    • (1998) Atherosclerosis , vol.141 , pp. 161-166
    • Verhoeff, B.J.1    Trip, M.D.2    Prins, M.H.3    Kastelein, J.J.P.4    Reitsma, P.H.5
  • 100
    • 0030975769 scopus 로고    scopus 로고
    • The effects of folic acid supplementation on plasma total homocysteine are modulated by multivitamin use and methylenetetrahydrofolate reductase genotypes
    • Malinow MR, Nieto FJ, Kruger WD, et al. The effects of folic acid supplementation on plasma total homocysteine are modulated by multivitamin use and methylenetetrahydrofolate reductase genotypes. Arterioscler Thromb Vasc Biol 1997; 17: 1157-62.
    • (1997) Arterioscler Thromb Vasc Biol , vol.17 , pp. 1157-1162
    • Malinow, M.R.1    Nieto, F.J.2    Kruger, W.D.3
  • 101
    • 0033551352 scopus 로고    scopus 로고
    • Rosenberg IH. the effect of folic acid fortification on plasma folate and total homocysteine concentrations
    • Jacques PF, Selhub J, Bostom AG, Wilson PWF, Rosenberg IH. The effect of folic acid fortification on plasma folate and total homocysteine concentrations. N Engl J Med 1999; 340: 1449-54.
    • (1999) N Engl J Med , vol.340 , pp. 1449-1454
    • Jacques, P.F.1    Selhub, J.2    Bostom, A.G.3    Wilson, P.W.F.4
  • 102
    • 0000443712 scopus 로고
    • Inherited disorders of folate transport and metabolism
    • Scriver CR, Beaudet AL, Sly WS, Velle D, eds. New York: McGraw-Hill
    • Rosenblatt DS. Inherited disorders of folate transport and metabolism. In: Scriver CR, Beaudet AL, Sly WS, Velle D, eds. The metabolic basis of inherited disease. New York: McGraw-Hill 1989; 2049-64.
    • (1989) The Metabolic Basis of Inherited Disease , pp. 2049-2064
    • Rosenblatt, D.S.1
  • 103
    • 0009572838 scopus 로고
    • A new form of homocystinuria due to 5, 10-methylenetetrahydrofolate reductase deficiency
    • abstract.
    • Shih VE, Salam MZ, Mudd SH, Uhlendorf BW, Adams RD. A new form of homocystinuria due to 5, 10-methylenetetrahydrofolate reductase deficiency. Pediatr Res 1972; 6: 135 (abstract).
    • (1972) Pediatr Res , vol.6 , pp. 135
    • Shih, V.E.1    Salam, M.Z.2    Mudd, S.H.3    Uhlendorf, B.W.4    Adams, R.D.5
  • 104
    • 0017195445 scopus 로고
    • Morphologic studies in a patient with homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency
    • Kanwar YS, Manaligod JR, Wong PW. Morphologic studies in a patient with homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency. Pediatr Res 1976; 10: 598-609.
    • (1976) Pediatr Res , vol.10 , pp. 598-609
    • Kanwar, Y.S.1    Manaligod, J.R.2    Wong, P.W.3
  • 105
    • 0031779446 scopus 로고    scopus 로고
    • Remethylation defects: Guidelines for clinical diagnosis and treatment
    • de Baulny HO, Gerard M, Saudubray JM, Zittoun J. Remethylation defects: guidelines for clinical diagnosis and treatment. Eur J Pediatr 1998; 157 (suppl 2): S77-83.
    • (1998) Eur J Pediatr , vol.157 , Issue.2 SUPPL.
    • De Baulny, H.O.1    Gerard, M.2    Saudubray, J.M.3    Zittoun, J.4
  • 106
    • 0017749386 scopus 로고
    • Methylenetetrahydrofolate reductase in cultured human cells. II. Genetic and biochemical studies of methylenetetrahydrofolate reductase deficiency
    • Rosenblatt DS, Erbe RW. Methylenetetrahydrofolate reductase in cultured human cells. II. Genetic and biochemical studies of methylenetetrahydrofolate reductase deficiency. Pediatr Res 1977; 11: 1141-3.
    • (1977) Pediatr Res , vol.11 , pp. 1141-1143
    • Rosenblatt, D.S.1    Erbe, R.W.2
  • 107
    • 0028905178 scopus 로고
    • Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency
    • Goyette P, Frosst P, Rosenblatt DS, Rozen R. Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency. Am J Hum Genet 1995; 56: 1052-9.
    • (1995) Am J Hum Genet , vol.56 , pp. 1052-1059
    • Goyette, P.1    Frosst, P.2    Rosenblatt, D.S.3    Rozen, R.4
  • 108
    • 0029847109 scopus 로고    scopus 로고
    • Severe and mild mutations in eis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR
    • Goyette P, Christensen B, Rosenblatt DS, Rozen R. Severe and mild mutations in eis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR. Am J Hum Genet 1996; 59: 1268-75.
    • (1996) Am J Hum Genet , vol.59 , pp. 1268-1275
    • Goyette, P.1    Christensen, B.2    Rosenblatt, D.S.3    Rozen, R.4
  • 109
    • 0029816188 scopus 로고    scopus 로고
    • Molecular genetics of methylenetetrahydrofolate reductase deficiency
    • Rozen R. Molecular genetics of methylenetetrahydrofolate reductase deficiency. J Inherit Metab Dis 1996; 19: 589-94.
    • (1996) J Inherit Metab Dis , vol.19 , pp. 589-594
    • Rozen, R.1
  • 111
    • 1642594081 scopus 로고    scopus 로고
    • Pathophysiology and clinical importance of hyperhomocysteinemia: Clinical intervention studies
    • in press
    • Sunder-Plassmann G, Födinger M. Pathophysiology and clinical importance of hyperhomocysteinemia: Clinical intervention studies. Mineral Elect Metab, (in press).
    • Mineral Elect Metab
    • Sunder-Plassmann, G.1    Födinger, M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.