EC Number   |
Application |
Reference |
|---|
    1.5.1.20 | analysis |
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 |
698118 |
| 1.5.1.20 | medicine |
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 |
677069 |
| 1.5.1.20 | medicine |
C677T mution of MTHRF gene is the most frequent genetic cause of mild hyperhomocysteinemia, a risk factor for cardiovascular disease |
437725 |
| 1.5.1.20 | medicine |
deficiency and thermolability of enzyme as cause of mild homocysteinemia with premature vascular disease |
437721 |
| 1.5.1.20 | medicine |
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 |
695436 |
| 1.5.1.20 | medicine |
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 |
699676 |
| 1.5.1.20 | medicine |
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 |
696920 |
| 1.5.1.20 | medicine |
meta-analysis of Mthfr polymorphisms affecting methotrexate toxicity. Polymorphism C677T is associated with increased toxicity of methotrexate,while polymorphism A1298C is not |
699836 |
| 1.5.1.20 | medicine |
methylenetetrahydrofolate reductase deficiency as cause of homocysteinuria |
437723 |
| 1.5.1.20 | medicine |
methylenetetrahydrofolate reductase deficiency causes homocystinuria |
437722 |
