Methylenetetrahydrofolate reductase deficiency
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Methylenetetrahydrofolate reductase deficiency
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
Methylenetetrahydrofolate reductase deficiency
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Methylenetetrahydrofolate reductase deficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A common variant in methylenetetrahydrofolate reductase (MTHFR 677C→T) causes mild MTHFR deficiency with lower 5-methyltetrahydrofolate for methylation reactions.
|
30408316 |
2019 |
Methylenetetrahydrofolate reductase deficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Five patients suspected of having non-classical homocystinuria due to MTHFR deficiency were examined with respect to their symptoms, MTHFR enzyme activity and genotypes of the MTHFR gene.
|
20236116 |
2010 |
Methylenetetrahydrofolate reductase deficiency
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.
|
27743313 |
2017 |
Methylenetetrahydrofolate reductase deficiency
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification.
|
7920641 |
1994 |
Methylenetetrahydrofolate reductase deficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In earlier work, we isolated the human cDNA for MTHFR, and reported 14 mutations in severe MTHFR deficiency, as well as a common 677C-->T missense mutation (Ala-->Val) that encodes the thermolabile MTHFR.
|
10923034 |
2000 |
Methylenetetrahydrofolate reductase deficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
In the latter group, remethylation disorders of homocysteine to methionine (chiefly CblC defect and 5,10-methylenetetrahydrofolate reductase [MTHFR] deficiency) are by far the most frequently encountered situations.
|
23124942 |
2012 |
Methylenetetrahydrofolate reductase deficiency
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.
|
25736335 |
2015 |
Methylenetetrahydrofolate reductase deficiency
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: characterization of two novel mutations in compound heterozygous patients.
|
20356773 |
2010 |
Methylenetetrahydrofolate reductase deficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Rare mutations in the MTHFR gene have been associated with autosomal recessive MTHFR deficiency leading to homocystinuria.
|
27130656 |
2016 |
Methylenetetrahydrofolate reductase deficiency
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Rare mutations in the MTHFR gene have been associated with autosomal recessive MTHFR deficiency leading to homocystinuria.
|
27130656 |
2016 |
Methylenetetrahydrofolate reductase deficiency
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency.
|
12733064 |
2003 |
Methylenetetrahydrofolate reductase deficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.
|
7726158 |
1995 |
Methylenetetrahydrofolate reductase deficiency
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Testicular MTHFR protein levels decreased significantly in wild-type mice on the 20× diet but not in those on the 10× diet, suggesting a possible role for MTHFR deficiency in sperm DNA hypomethylation.
|
29360980 |
2018 |
Methylenetetrahydrofolate reductase deficiency
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
The biochemical features in these four subjects are distinguishable from subjects homozygous for the thermolabile MTHFR, whose specific activity is approximately 50% of the normal mean, and from heterozygotes for severe MTHFR deficiency, in whom the enzyme is thermostable and has a specific activity of about 50% of the normal mean.
|
1998340 |
1991 |
Methylenetetrahydrofolate reductase deficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The diagnosis of MTHFR deficiency was confirmed based on extremely reduced fibroblast MTHFR activity (0.3 nmol CHO/mg prot/hr) as well as mutation analysis that revealed two variants in the MTHFR gene, a splice site mutation p (IVS5-1G>A), as well as a missense mutation (c.155 G>A; p. Arg52Gln).
|
25079578 |
2014 |
Methylenetetrahydrofolate reductase deficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The ongoing identification and characterisation of mutations in the MTHFR gene will provide further insight into the heterogeneity of the clinical phenotype in severe MTHFR deficiency.
|
9781030 |
1998 |
Methylenetetrahydrofolate reductase deficiency
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
These results underscore the importance of folate interconversion in VPA-induced teratogenicity, since VPA increases MTHFR expression and has lower teratogenic potential in MTHFR deficiency.
|
18615588 |
2008 |
Methylenetetrahydrofolate reductase deficiency
|
0.700 |
Biomarker
|
disease |
CLINGEN |
To investigate the in vivo pathogenetic mechanisms of MTHFR deficiency, we generated mice with a knockout of MTHFR: Plasma total homocysteine levels in heterozygous and homozygous knockout mice are 1.6- and 10-fold higher than those in wild-type littermates, respectively.
|
11181567 |
2001 |
Methylenetetrahydrofolate reductase deficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
We conclude that thermolabile MTHFR is a variant(s) of MTHFR deficiency which is inherited as an autosomal recessive trait.
|
1998339 |
1991 |