HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation.
|
12673793 |
2003 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.
|
25736335 |
2015 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Rare mutations in the MTHFR gene have been associated with autosomal recessive MTHFR deficiency leading to homocystinuria.
|
27130656 |
2016 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency.
|
12733064 |
2003 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
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 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR.
|
8940272 |
1996 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency.
|
20236116 |
2010 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
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 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.
|
7726158 |
1995 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.
|
27743313 |
2017 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Functional characterization of human methylenetetrahydrofolate reductase in Saccharomyces cerevisiae.
|
10551815 |
1999 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.
|
25856670 |
2016 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Association between methylenetetrahydrofolate reductase C677T polymorphism and epilepsy susceptibility: a meta-analysis.
|
24556013 |
2014 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
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 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
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 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes.
|
29391032 |
2018 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
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 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.
|
27743313 |
2017 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR.
|
8940272 |
1996 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
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 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
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 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.
|
26872964 |
2016 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification.
|
7920641 |
1994 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.
|
7726158 |
1995 |