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analysis
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natural polymorphism I225V results in an unusual melting curve peak at 53.4°C instead of 51.6°C or 60.4°C in melting curve analysis after real-time polymerase chain reaction. Potential ability of melting analysis to identify new sequence variants
medicine
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mutation in gene for methylenetetrahydrofolate reductase is a cause of moderate homocysteinaemia, which is a risk factor for arteriosclerosis and thrombosis, patients with MTHFR deficiency have low methionine concentrations in plasma
medicine
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methylenetetrahydrofolate reductase deficiency causes homocystinuria
medicine
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deficiency and thermolability of enzyme as cause of mild homocysteinemia with premature vascular disease
medicine
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methylenetetrahydrofolate reductase deficiency as cause of homocysteinuria
medicine
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C677T mution of MTHRF gene is the most frequent genetic cause of mild hyperhomocysteinemia, a risk factor for cardiovascular disease
medicine
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association of A222V genotype with the Gc2 polymorphism of the vitamin D-binding protein. A222V mutant individuals additionally show a quantitative reduction of apolipoprotein A-I
medicine
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MTHFR deficiency in mice is accompanied with hyperhomocysteinemia and decreased hematocrit, hemoglobin, and red blood cell numbers, increased nephrotoxicity und hepatotoxicity compared to wild type animals
medicine
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MTHFR inhibition may be a novel anticancer approach
medicine
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MTHFR is important for postnatal growth and vitality and 5-methyltetrahydrofolate deficiency contributes to the high postnatal mortality, Mefolinate may be a good candidate drug for treatment of severe MTHFR deficiency
medicine
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the consequences of a deficient MTHFR genotype are probably dependent on the folate intake status, there is no clear conclusion regarding the influence of MTHFR polymorphisms on 5-fluorouracil-based treatment in colorectal cancer
medicine
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homozygosity for the C677T natural polymorphism presents a 3fold increased risk of colorectal cancer. Low intake of methyl-donor nutrients is associated with an increased risk of colorectal cancer in homozygous participants for the C677T polymorphism
medicine
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in Parkinson patients, plasma homocysteine elevation may be caused by levodopa administration, and further promoted by MTHFR C677T heterozygotes and homozygote C677T/C677T, but not by A1298C genotypes. The promoting elevation in 1298A homozygotes is attributed to combining the 677T allele. Neither C677T nor A1298C genotypes contribute to elevating plasma homocysteine in Parkinson patients without levodopa treatment
medicine
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maternal MTHFR and dietary folate deficiencies in Mthfr +/- mice result in increased developmental delays and smaller embryos. Folate-deficient mice also have increased embryonic losses and severe placental defects, including placental abruption and disturbed patterning of placental layers. Folate-deficient placentae have decreased ApoA-I expression, and there is a trend toward a negative correlation between ApoA-I expression with maternal homocysteine concentrations
medicine
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meta-analysis of Mthfr polymorphisms affecting methotrexate toxicity. Polymorphism C677T is associated with increased toxicity of methotrexate,while polymorphism A1298C is not
medicine
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mice carrying a mutation in the adenomatous polyposis coli gene Apc, a model for intestinal polyposis, fed with high folate diets from weaning develop more adenomas than those fed the folic acid deficient diet or the control diet. Mthfr deficiency does not affect adenoma number. When the folic acid deficient diet and control diet are administered to dams prior to conception, throughout pregnancy and continued in offspring post-weaning, Apc -/+ offspring fed folic acid deficient diet develop fewer adenomas than those fed control diet. Mthfr+/- genotype of the mother or of the offspring also reduces adenoma numbers in the Apc -/+ offspring. Adenoma number is inversely correlated with plasma homocysteine, intestinal dUTP/dTTP ratios, and levels of intestinal apoptosis
medicine
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MTHFR mutant C677T homozygotes who are also carriers of cystathione beta-synthase 844ins68 polymorphism have homocysteine and folate concentrations similar to those of individuals with the MTHFR heterozygous C677C/C677T and wild-type genotypes. Homocysteine levels in MTHFR double mutant subjects carrying the cystathione beta-synthase 844ins68 allele are 24.1% lower than in non-carriers, and serum folate levels are 27.7% higher. These suggests that the cystathione beta-synthase 844ins68 allele normalizes homocysteine and folate levels in MTHFR C677T/C677T individuals
medicine
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mutations in the MTHFR gene decrease the onset risk of acute lymphoblastic leukemia with relapse in the setting of no folate supplementation in pregnancy, but not of relapse-free acute lymphoblastic leukemia
medicine
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No significant difference is found in either Mthfr allele frequencies or genotype distribution between patients with bipolar disorder and controls in an association study in the Chinese population. The meta-analysis result shows no significant association between Mthfr C677T and bipolar disorder
medicine
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no significant differences in plasma homocysteine levels and MTHFR genotypes are found in patients with systemic sclerosis compared to controls or in systemic sclerosis patients with limited cutaneous compared to diffuse disease. Seventy-one percent of patients with macrovascular disorders have MTHFR polymorphism C677T. In addition, 45% of patients with hyperhomocysteinemia have pulmonary hypertension. The presence of MTHFR C677T mutation influences the incidence of macrovascular abnormalities in SSc patients
medicine
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plasma homocysteine levels are significantly elevated in patients lacking Mthfr activity or cystathione beta-synthase activity
medicine
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study on association of factor V-Leiden and methylenetetrahydrofolate reductase C677T and A1298C mutations with stroke. MTHFR C677T/C677T and A1298C/A1298C, but not factor V-Leiden, genotypes are associated with stroke. The C677T but not A1298C MTHFR mutation is associated with elevated homocysteine levels in patients and control subjects. In addition to hypertension, the significant predictors for stroke are MTHFR C677T and C677T/C677T and A1298C/A1298C genotypes, together with hyperhomocysteinemia, indicating a synergistic effect of MTHFR mutations with elevated homocysteine and other risk factors in pathogenesis of stroke
medicine
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MTHFR variant allele C677T has a protective effect on colorectal cancer development, whereas the variant allele of the A1298C does not produce any effect on disease risk. Both MTHFR polymorphisms are relevant and independent factors of patient outcome after 5-fluorouracil-based treatment of colorectal cancer
medicine
obese women without comorbidities and carrying the T variant of the 677C>T (p.A222V) polymorphism of gene MTHFR exhibit benefits with simvastatin treatment, mainly in terms of increased NO levels
nutrition
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homozygosity for the C677T natural polymorphism presents a 3fold increased risk of colorectal cancer. Low intake of methyl-donor nutrients is associated with an increased risk of colorectal cancer in homozygous participants for the C677T polymorphism
nutrition
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mice carrying a mutation in the adenomatous polyposis coli gene Apc, a model for intestinal polyposis, fed with high folate diets from weaning develop more adenomas than those fed the folic acid deficient diet or the control diet. Mthfr deficiency does not affect adenoma number. When the folic acid deficient diet and control diet are administered to dams prior to conception, throughout pregnancy and continued in offspring post-weaning, Apc -/+ offspring fed folic acid deficient diet develop fewer adenomas than those fed control diet. Mthfr+/- genotype of the mother or of the offspring also reduces adenoma numbers in the Apc -/+ offspring. Adenoma number is inversely correlated with plasma homocysteine, intestinal dUTP/dTTP ratios, and levels of intestinal apoptosis