The 1298A→C polymorphism in methylenetetrahydrofolate reductase (MTHFR): in vitro expression and association with homocysteine
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Clarke, 1991, Hyperhomocysteinemia: an independent risk factor for vascular disease, N. Engl. J. Med., 324, 1149, 10.1056/NEJM199104253241701
Refsum, 1998, Homocysteine and vascular disease, Ann. Rev. Med., 48, 31, 10.1146/annurev.med.49.1.31
Boushey, 1995, A quantitative assessment of plasma homocysteine as a risk factor for vascular disease. Probable benefits of increasing folic acid intakes, JAMA, 274, 1049, 10.1001/jama.274.13.1049
Selhub, 1995, Association between plasma homocysteine concentrations and extra-cranial carotid artery stenosis, N. Engl. J. Med., 332, 286, 10.1056/NEJM199502023320502
Kang, 1991, Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease, Am. J. Hum. Genet., 48, 536
Goyette, 1994, Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification, Nat. Genet., 7, 195, 10.1038/ng0694-195
Frosst, 1995, A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase, Nat. Genet., 10, 111, 10.1038/ng0595-111
Christensen, 1997, Correlation of a common mutation in the methylenetetrahydrofolate reductase gene with plasma homocysteine in patients with premature coronary artery disease, Arterio. Thromb. Vasc. Biol., 17, 569, 10.1161/01.ATV.17.3.569
Jacques, 1996, Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations, Circulation, 93, 7, 10.1161/01.CIR.93.1.7
Guenther, 1999, The structure and properties of methylenetetrahydrofolate reductase from Escherichia coli: a model for the role of folate in ameliorating hyperhomocysteinemia in humans, Nat. Struct. Biol., 6, 359, 10.1038/7594
van der Put, 1995, Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida, Lancet, 346, 1070, 10.1016/S0140-6736(95)91743-8
Whitehead, 1988, A genetic defect in 5,10 methylenetetrahydrofolate reductase in neural tube defects, Q. J. Med., 88, 763
Kluitjmans, 1996, Molecular genetic analysis in mild hyperhomocysteinemia: A common mutation in methylenetetrahydrofolate reductase gene is a risk factor for cardiovascular disease, Am. J. Hum. Genet., 58, 35
Morita, 1997, Genetic polymorphism of 5,10 methylenetetrahydrofolate reductase (MTHFR) as a risk factor for coronary artery disease, Circulation, 95, 2032, 10.1161/01.CIR.95.8.2032
Fletcher, 1998, MTHFR association with arteriosclerotic vascular disease?, Hum. Genet., 103, 11, 10.1007/s004390050776
Weisberg, 1998, A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity, Mol. Gen. Metab., 64, 169, 10.1006/mgme.1998.2714
van der Put, 1998, A second common mutation in the methylenetetra-hydrofolate reductase gene: An additional risk factor for neural-tube defects?, Am. J. Hum. Genet., 62, 1044, 10.1086/301825
Cormack B. Directed mutagenesis using the polymerase chain reaction, Current Protocols in Molecular Biology 1997;8.5.1–8.5.10.
Higgins, 1996, NHLBI family heart study: objectives and design, Am. J. Epidemiol., 143, 1219, 10.1093/oxfordjournals.aje.a008709
Araki, 1987, Determination of free and total homocysteine in human plasma by high-performance liquid chromatography with fluorescence detection, J. Chromatogr., 422, 43, 10.1016/0378-4347(87)80438-3
Shin-Buehring, 1981, A new enzymatic method for pyridoxal-5′-phosphate determination, J. Inherit. Metab. Disorders, 4, 123, 10.1007/BF02263621
NHLBI Family Heart Study: manuals of procedure. St. Louis, MO: Washington University, 1993.
SAS User's Guide. 6th Edition. Cary, NC: SAS Institute, 1989.
Goyette, 1996, Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR, Am. J. Hum. Genet., 59, 1268