Methylenetetrahydrofolate reductase (MTHFR) 677C>T polymorphism and risk of pediatric non-Hodgkin lymphoma in a German study population.
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چکیده
1. Yao DC, Tolan DR, Murray MF, et al. Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for the erythrocyte/muscle isozyme of aldolase, ALDOA (Arg303X/Cys338Tyr). Blood. 2004;103:2401-2403. 2. Kishi H, Mukai T, Hirono A, et al. Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation. Proc Natl Acad Sci U S A. 1987;84:8623-8627. 3. Kreuder J, Borkhardt A, Repp R, et al. Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A. New Engl J Med. 1996; 334:1100-1104. 4. Esposito G, Vitagliano L, Costanzo P, et al. Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function. Biochem J. 2004;380:51-56. 5. Esposito G, Vitagliano L, Santamaria R, et al. Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance. FEBS Lett. 2002;531:152-156. 6. Takahashi I, Takasaki Y, Hori K. Site-directed mutagenesis of human aldolase isozymes: the role of Cys-72 and Cys-338 residues of aldolase A and of the carboxy-terminal Tyr residues of aldolases A and B. J Biochem. 1989;105:281286. 7. Steinmann B, Gitzelmann R, Van den Berghe G. Disorders of fructose metabolism. In: Scriver CS, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 2001: 1489-1520. 8. Esposito G, Santamaria R, Vitagliano L, et al. Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene. Hum Mutat. 2004;24:534-541.
منابع مشابه
Methylenetetrahydrofolate reductase polymorphism 677C>T is associated with peripheral arterial disease in type 2 diabetes
BACKGROUND Individuals with diabetes are twice as likely to develop peripheral arterial disease (PAD), the manifestation of extensive atherosclerosis throughout the lower extremities. One putative determinant of PAD is the 677C>T polymorphism in the gene encoding methylenetetrahydrofolate reductase (MTHFR), which has previously been found to associate with various diabetic complications includi...
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AIMS To shed light on the conflicting findings of the association between the methylenetetrahydrofolate reductase gene (MTHFR) 677C/T polymorphism and the risk of diabetic retinopathy (DR), a meta-analysis was conducted. METHODS A predefined search was performed on 1747 DR cases and 3146 controls from 18 published studies by searching electronic databases and reference lists of relevant artic...
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The methylenetetrahydrofolate reductase (MTHFR) gene codes for the MTHFR enzyme which plays a key role in the pathway of folate and methionine metabolism. Polymorphisms of genes in this pathway affect its regulation and have been linked to lymphoma. In this study we examined whether we could detect an association between two common non-synonymous MTHFR polymorphisms, 677C > T (rs1801133) and 12...
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Maternal folic acid intake in the periconceptional period is strongly related to reduction in recurrence and occurrence of birth defects involving the neural tube. Among the single nucleotide polymorphisms (SNPs) influencing the folate metabolism, the methylenetetrahydrofolate reductase (MTHFR) gene has been the one most exclusively studied. Many studies have reported significant association be...
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It has been proposed that folate and polymorphisms of the enzyme methylenetetrahydrofolate reductase (MTHFR), which regulates influx of folate from DNA synthesis and repair to methylation reactions, are involved in the aetiology of cancer. To relate the MTHFR 677C-->T and 1298A-->C polymorphisms to the risk of prostate cancer, taking into consideration prospective plasma levels of folate, vitam...
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ورودعنوان ژورنال:
- Blood
دوره 105 2 شماره
صفحات -
تاریخ انتشار 2005