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A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase
TLDR
This work has identified a common mutation in MTHFR which alters a highly-conserved amino acid; the substitution occurs at a frequency of approximately 38% of unselected chromosomes and may represent an important genetic risk factor in vascular disease.
Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR)
TLDR
The isolation and characterization of the human and mouse genes for MTHFR are reported, finding the exon sizes, locations of intronic boundaries, and intron sizes are quite similar between the two species.
Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida
TLDR
The mutation was associated with decreased MTHFR activity, low plasma folate, and high plasma homocysteine and red-cell folate concentrations and should be regarded as a genetic risk factor for spina bifida.
Tpr is localized within the nuclear basket of the pore complex and has a role in nuclear protein export
TLDR
It is determined that mammalian Tpr is concentrated within the nuclear basket of the pore complex in a distribution similar to Nup153 and Nup98 and is a nucleoporin of thenuclear basket with a role in nuclear protein export.
Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.
TLDR
It is concluded that heterozygosity for CBS deficiency does not appear to be involved in premature cardiovascular disease, however, a frequent homozygous mutation in the MTHFR gene is associated with a threefold increase in risk for prematurely cardiovascular disease.
Methylenetetrahydrofolate reductase polymorphism, plasma folate, homocysteine, and risk of myocardial infarction in US physicians.
TLDR
In this population of myocardial infarction patients, MTHFR polymorphism was associated with higher homocysteine levels but not with risk of MI, suggesting a gene-environment interaction might increase the risk by elevating tHCY, especially when folate intake is low.
Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.
TLDR
Seven novel mutations in this gene are characterized: six missense mutations and a 5' splice-site defect that activates a cryptic splice site in the coding sequence that is associated with extremely low activity and onset of symptoms within the 1st year of age.
Correlation of a common mutation in the methylenetetrahydrofolate reductase gene with plasma homocysteine in patients with premature coronary artery disease.
TLDR
Individuals with the homozygous mutant genotype had higher plasma homocysteine, particularly when plasma folate was below the median value, and this genetic-environmental interaction is proposed to be a risk factor for CAD.
Karyopherin binding interactions and nuclear import mechanism of nuclear pore complex protein Tpr
TLDR
It is proposed that Tpr is imported into the nucleus by the importin α/β heterodimer and can serve as a nucleoporin binding site for importin β during import of Importin β cargo complexes and/or importinβ recycling.
Carrier testing for spinal muscular atrophy
TLDR
It is concluded that pan-ethnic carrier screening for spinal muscular atrophy is technically feasible and that the specific study of implementing a spinal muscularatrophy carrier screening program raises broader issues about determining the scope and specifics of carrier screening in general.
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