Results 131 to 140 of about 13,481 (184)

Dynamic inter-domain transformations mediate the allosteric regulation of human 5, 10-methylenetetrahydrofolate reductase. [PDF]

Nat Commun
Blomgren LKM, Huber M, Mackinnon SR, Bürer C, Baslé A, Yue WW, Froese DS, McCorvie TJ.   +7 more
europepmc   +1 more source

Co-Occurring Methylenetetrahydrofolate Reductase (MTHFR) rs1801133 and rs1801131 Genotypes as Associative Genetic Modifiers of Clinical Severity in Rett Syndrome. [PDF]

Brain Sci
Singh J, Wilkins G, Goodman-Vincent E, Chishti S, Bonilla Guerrero R, McFadden L, Zahavi Z, Santosh P.   +7 more
europepmc   +1 more source

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Methylenetetrahydrofolate reductase and neural tube defects

The Lancet, 1996
C, Papapetrou, S A, Lynch, J, Burn, Y H, Edwards   +3 more
openaire   +4 more sources

Methylenetetrahydrofolate Reductase Deficiency

, 2012
Dean L.
openaire   +2 more sources

Adult-onset methylenetetrahydrofolate reductase deficiency

BMJ Case Reports, 2020
Severe hyperhomocysteinemia (>100 µmol/L) is often associated with inborn errors of homocysteine metabolism. It manifests typically in neonatal period with developmental delay, hypotonia, feeding problems or failure to thrive. Adult-onset forms are rare and include less severe manifestations. Early diagnosis is crucial because effective treatment is
Daniela, Vieira, Cristina, Florindo, Isabel, Tavares de Almeida, Maria Carmo, Macário   +3 more
openaire   +2 more sources

Polymorphisms in the Methylenetetrahydrofolate Reductase Gene

American Journal of PharmacoGenomics, 2001
5,10-Methylenetetrahydrofolate reductase (MTHFR) plays a key role in folate metabolism by channeling one-carbon units between nucleotide synthesis and methylation reactions. Severe enzyme deficiency leads to hyperhomocysteinemia and homocystinuria, with altered folate distribution and a phenotype that is characterized by damage to the nervous and ...
B, Schwahn, R, Rozen
openaire   +2 more sources

Methylenetetrahydrofolate reductase C677T genotype and PD

Annals of Neurology, 2005
AbstractIn a prospective, population‐based cohort study among 5,920 participants aged 55 years or older, we observed that the TT variant of the methylenetetrahydrofolate reductase C677T polymorphism is associated with an increased risk for Parkinson's disease in smokers.
Lau, Lonneke, Koudstaal, Peter, van Meurs, Joyce, Uitterlinden, André, Hofman, Bert, Breteler, Monique   +5 more
openaire   +3 more sources

Methylenetetrahydrofolate reductase polymorphism in Kawasaki disease

Pediatrics International, 2000
Abstract Background: A genetic aberration in the 5,10‐methylenetetrahydrofolate reductase (MTHFR) gene (677 C to T substitution) has been shown to result in reduced enzyme activity. The hypothesis tested in the present study was that a higher proportion of Kawasaki disease (KD) patients with coronary artery lesions (CAL) would have the T677 allele ...
H, Tsukahara, M, Hiraoka, M, Saito, K, Nishida, R, Kobata, S, Tsuchida, M, Toyooka, H, Kimura, F, Gejyo, M, Mayumi   +9 more
openaire   +2 more sources

Methylenetetrahydrofolate Reductase C677T

World Journal for Pediatric and Congenital Heart Surgery, 2015
The incidence of congenital heart defects is higher in infants with mutation of methylenetetrahydrofolate reductase ( MTHFR) gene. The MTHFR C677T gene decreases the bioavailability of folate and increases plasma homocysteine, a risk factor for thrombosis.
Kimberly J, Spronk, Anthony D, Olivero, Marcus P, Haw, Joseph J, Vettukattil   +3 more
openaire   +2 more sources

Thermolabile Methylenetetrahydrofolate Reductase

1997
Thermolabile methylenetetrahydrofolate reductase (MTHFR) is a homozygous genetic defect that is defined by its in vitro heat sensitivity. Similar to heterozygotes for severe MTHFR deficiency, specific enzyme activity of thermolabile MTHFR is 50% of the normal mean. Population analysis of the inheritance pattern follows an autosomal recessive trait, and
Soo-Sang Kang, Edward L. Passen, Myunghee H. Kim, Neal Ruggie   +3 more
openaire   +1 more source