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Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutationMetabolic derangement of methionine and folate metabolism in mice deficient in methionine synthase reductaseMethylenetetrahydrofolate reductase (MTHFR) 677C>T and methionine synthase reductase (MTRR) 66A>G polymorphisms: association with serum homocysteine and angiographic coronary artery disease in the era of flour products fortified with folic acidBetaine rescue of an animal model with methylenetetrahydrofolate reductase deficiencyEffects of betaine in a murine model of mild cystathionine-beta-synthase deficiencyEpigenome-wide association of liver methylation patterns and complex metabolic traits in miceHigh dietary folate in pregnant mice leads to pseudo-MTHFR deficiency and altered methyl metabolism, with embryonic growth delay and short-term memory impairment in offspring.Complete deficiency of methylenetetrahydrofolate reductase in mice is associated with impaired retinal function and variable mortality, hematological profiles, and reproductive outcomes.Multiple transcription start sites and alternative splicing in the methylenetetrahydrofolate reductase gene result in two enzyme isoforms.Postnatal cerebellar defects in mice deficient in methylenetetrahydrofolate reductase.[Molecular genetics of MTHFR: polymorphisms are not all benign].Methionine synthase reductase deficiency results in adverse reproductive outcomes and congenital heart defects in mice.High folic acid consumption leads to pseudo-MTHFR deficiency, altered lipid metabolism, and liver injury in mice.Retinal Ganglion Cell Loss and Mild Vasculopathy in Methylene Tetrahydrofolate Reductase (Mthfr)-Deficient Mice: A Model of Mild Hyperhomocysteinemia.High Dietary Folate in Mice Alters Immune Response and Reduces Survival after Malarial Infection.Associations between 2 polymorphisms in the methylenetetrahydrofolate reductase gene and placental abruption.Neural tube defects induced by folate deficiency in mutant curly tail (Grhl3) embryos are associated with alteration in folate one-carbon metabolism but are unlikely to result from diminished methylationMthfr as a modifier of the retinal phenotype of Crb1(rd8/rd8) mice.Valproic acid increases expression of methylenetetrahydrofolate reductase (MTHFR) and induces lower teratogenicity in MTHFR deficiencyMurine diet/tissue and human brain tumorigenesis alter Mthfr/MTHFR 5'-end methylation.β,β-carotene 15,15'-monooxygenase and its substrate β-carotene modulate migration and invasion in colorectal carcinoma cells.Homocysteine modulates the effect of simvastatin on expression of ApoA-I and NF-kappaB/iNOS.Endoplasmic reticulum stress increases the expression of methylenetetrahydrofolate reductase through the IRE1 transducer.Dietary intake of S-(alpha-carboxybutyl)-DL-homocysteine induces hyperhomocysteinemia in rats.A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment.Regulatory studies of murine methylenetetrahydrofolate reductase reveal two major promoters and NF-kappaB sensitivity.Strain-specific defects in testicular development and sperm epigenetic patterns in 5,10-methylenetetrahydrofolate reductase-deficient mice.Studies of methionine cycle intermediates (SAM, SAH), DNA methylation and the impact of folate deficiency on tumor numbers in Min mice.Low dietary folate and methylenetetrahydrofolate reductase deficiency may lead to pregnancy complications through modulation of ApoAI and IFN-γ in spleen and placenta, and through reduction of methylation potential.Antioxidant vitamins, long-chain fatty acids, and spontaneous preterm birth.Plasma homocysteine concentration changes after renal transplantation in children.The curly-tail (ct) mouse, an animal model of neural tube defects, displays altered homocysteine metabolism without folate responsiveness or a defect in Mthfr.SLC7A9 mutations in all three cystinuria subtypes.Effects of polymorphisms of methionine synthase and methionine synthase reductase on total plasma homocysteine in the NHLBI Family Heart Study.Impact of Dnmt1 deficiency, with and without low folate diets, on tumor numbers and DNA methylation in Min mice.Spina bifida, folate metabolism, and dietary folate intake in a Northern Canadian aboriginal population.Homocysteine-betaine interactions in a murine model of 5,10-methylenetetrahydrofolate reductase deficiency.Methylenetetrahydrofolate reductase polymorphism in advanced colorectal cancer: a novel genomic predictor of clinical response to fluoropyrimidine-based chemotherapy.Investigations of a common genetic variant in betaine-homocysteine methyltransferase (BHMT) in coronary artery disease.Effect of hyperhomocystinemia and hypertension on endothelial function in methylenetetrahydrofolate reductase-deficient mice.
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ahli biologi
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généticienne canadienne
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kanadische Biologin und Genetikerin
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عالمة وراثة كندية
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Rima Rozen
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Rima Rozen
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Rima Rozen
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Rima Rozen
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