Skip to search form
Skip to main content
Skip to account menu
Semantic Scholar
Semantic Scholar's Logo
Search 218,376,792 papers from all fields of science
Search
Sign In
Create Free Account
MTHFR gene
Known as:
methylenetetrahydrofolate reductase gene
, 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE
, MTHFR
Expand
This gene is involved in folate metabolism and methionine biosynthesis.
National Institutes of Health
Create Alert
Alert
Related topics
Related topics
5 relations
5,10-Methylenetetrahydrofolate Reductase (FADH2)
Methylenetetrahydrofolate reductase (NADPH)
Oxidation-Reduction
folic acid metabolism
Broader (1)
Genes
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2005
Review
2005
Gene-nutrient interactions in one-carbon metabolism.
S. Friso
,
Sang-Woon Choi
Current drug metabolism
2005
Corpus ID: 28300218
Advances in molecular biology greatly contributed, in the past decades, to a deeper understanding of the role of gene function in…
Expand
Highly Cited
2005
Highly Cited
2005
Late-onset thrombocytic microangiopathy caused by cblC disease: association with a factor H mutation.
V. Guigonis
,
V. Frémeaux-Bacchi
,
+6 authors
G. Deschênes
American Journal of Kidney Diseases
2005
Corpus ID: 10700378
BACKGROUND cblC disease is a cause of hemolytic uremic syndrome (HUS), which has been primarily described in neonates and infants…
Expand
Highly Cited
2004
Highly Cited
2004
Association of MTHFR Gene Variants with Autism
M. Boris
,
A. Goldblatt
,
J. Galanko
,
S. James
2004
Corpus ID: 51825986
Autism is a complex neurodevelopment disorder with numerous possible genetic and environmental influences. We retrospectively…
Expand
Highly Cited
1999
Highly Cited
1999
Methylenetetrahydrofolate Reductase Polymorphism, Folate, and Susceptibility to Preeclampsia
R. Powers
,
Leslie A. Minish
,
D. Lykins
,
R. Ness
,
W. Crombleholme
,
J. Roberts
Journal of the Society for Gynecologic…
1999
Corpus ID: 21756203
Objectives: To test the hypothesis that the common missense mutation of 5,10-methylenetetrahydrofolate reductase (MTHFR) (677 C…
Expand
Highly Cited
1999
Highly Cited
1999
A common mutation in the methylenetetrahydrofolate reductase gene is a determinant of hyperhomocysteinemia in epileptic patients receiving anticonvulsants.
Jun-Hyun Yoo
,
S. Hong
Metabolism: Clinical and Experimental
1999
Corpus ID: 23537495
Highly Cited
1999
Highly Cited
1999
Mortality risk in men is associated with a common mutation in the methylenetetrahydrofolate reductase gene (MTHFR)
B. Heijmans
,
J. Gussekloo
,
+5 authors
E. Slagboom
European Journal of Human Genetics
1999
Corpus ID: 3194242
An elevated level of homocysteine in plasma is associated with the occurrence of cardiovascular disease. A common ala-to-val…
Expand
Review
1997
Review
1997
The VITA Project: C677T mutation in the methylene‐tetrahydrofolate reductase gene and risk of venous thromboembolism
A. Tosetto
,
E. Missiaglia
,
M. Frezzato
,
F. Rodeghiero
British Journal of Haematology
1997
Corpus ID: 7461218
We evaluated the hypothesis that a common polymorphism of the methylenetetrahydrofolate reductase gene (C677T), which results in…
Expand
Highly Cited
1997
Highly Cited
1997
A common mutation in methylenetetrahydrofolate reductase gene is not a major risk of coronary artery disease or myocardial infarction.
Ramon Brugada
,
A. J. Marian
Atherosclerosis
1997
Corpus ID: 20128047
Highly Cited
1997
Highly Cited
1997
Association between plasma total homocysteine and parental history of cardiovascular disease in children with familial hypercholesterolemia.
Serena Tonstad
,
H. Refsum
,
P. Ueland
Circulation
1997
Corpus ID: 21970807
BACKGROUND Recently, we reported a relation between plasma total homocysteine (tHcy) in children and cardiovascular disease (CVD…
Expand
Highly Cited
1976
Highly Cited
1976
Morphologic Studies in a Patient with Homocystinuria due to 5,10-Methylenetetrahydrofolate Reductase Deficiency
Y. Kanwar
,
J. Manaligod
,
P. Wong
Pediatric Research
1976
Corpus ID: 7684814
Extract: Biochemical and morphologic studies on a patient with homocystinuria due to a deficiency of 5,10…
Expand
By clicking accept or continuing to use the site, you agree to the terms outlined in our
Privacy Policy
(opens in a new tab)
,
Terms of Service
(opens in a new tab)
, and
Dataset License
(opens in a new tab)
ACCEPT & CONTINUE