Rima Rozen | Academic Influence

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Rima Rozen

Biology

#4182

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#6274

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Genetics

#618

World Rank

#701

Historical Rank

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Biology

Rima Rozen's Degrees

PhD Genetics McGill University
Bachelors Biology McGill University

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Why Is Rima Rozen Influential?

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According to Wikipedia, Rima Rozen is a Canadian geneticist who is a professor at McGill University. Her current research focuses on genetic and nutritional deficiencies in folate metabolism and their impact on complex traits.

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Rima Rozen's Published Works

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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase (1995) (5862)
Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. (1996) (1456)
A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. (1998) (1336)
Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification (1994) (912)
Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida (1995) (896)
Methylenetetrahydrofolate reductase polymorphism, dietary interactions, and risk of colorectal cancer. (1997) (838)
Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. (1996) (689)
Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition. (2001) (579)
Methylenetetrahydrofolate reductase polymorphism, plasma folate, homocysteine, and risk of myocardial infarction in US physicians. (1996) (532)
A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida. (1999) (445)
The structure and properties of methylenetetrahydrofolate reductase from Escherichia coli suggest how folate ameliorates human hyperhomocysteinemia (1999) (418)
A rapid procedure for extracting genomic DNA from leukocytes. (1991) (404)
Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders. (1996) (403)
Effects of common polymorphisms on the properties of recombinant human methylenetetrahydrofolate reductase (2001) (403)
The 1298A-->C polymorphism in methylenetetrahydrofolate reductase (MTHFR): in vitro expression and association with homocysteine. (2001) (393)
Socio-economic disparities in preterm birth: causal pathways and mechanisms. (2001) (364)
Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome. (2000) (358)
Genetic Predisposition to Hyperhomocysteinemia: Deficiency of Methylenetetrahydrofolate Reductase (MTHFR) (1997) (350)
Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR) (1998) (350)
Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects. (1999) (311)
Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency. (1995) (280)
A polymorphism of the methionine synthase gene: association with plasma folate, vitamin B12, homocyst(e)ine, and colorectal cancer risk. (1999) (266)
Homocysteine and risk of premature coronary heart disease. Evidence for a common gene mutation. (1996) (254)
Correlation of a common mutation in the methylenetetrahydrofolate reductase gene with plasma homocysteine in patients with premature coronary artery disease. (1997) (241)
5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. (1996) (223)
Methylenetetrahydrofolate reductase polymorphism in advanced colorectal cancer: a novel genomic predictor of clinical response to fluoropyrimidine-based chemotherapy. (2003) (189)
Elevated Homocysteine Reduces Apolipoprotein A-I Expression in Hyperhomocysteinemic Mice and in Males With Coronary Artery Disease (2006) (166)
Maternal vitamin use, genetic variation of infant methylenetetrahydrofolate reductase, and risk for spina bifida. (1998) (161)
Homocysteine‐betaine interactions in a murine model of 5,10‐methylenetetrahydrofolate reductase deficiency (2003) (161)
Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR. (1996) (150)
Glycine N-methyltransferase deficiency: A novel inborn error causing persistent isolated hypermethioninaemia (2001) (142)
Polymorphisms in the methylenetetrahydrofolate reductase gene: clinical consequences. (2001) (133)
Infant C677T mutation in MTHFR, maternal periconceptional vitamin use, and cleft lip. (1998) (128)
Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus (1985) (121)
Folate status is the major determinant of fasting total plasma homocysteine levels in maintenance dialysis patients. (1996) (119)
Infertility in 5,10-Methylenetetrahydrofolate Reductase (MTHFR)-Deficient Male Mice Is Partially Alleviated by Lifetime Dietary Betaine Supplementation1 (2005) (116)
High folic acid consumption leads to pseudo-MTHFR deficiency, altered lipid metabolism, and liver injury in mice12345 (2015) (113)
Primary structure of a human trifunctional enzyme. Isolation of a cDNA encoding methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase. (1988) (113)
Effect of Mthfr genotype on diet-induced hyperhomocysteinemia and vascular function in mice. (2004) (110)
Studies of methionine cycle intermediates (SAM, SAH), DNA methylation and the impact of folate deficiency on tumor numbers in Min mice. (2002) (108)
Effects of polymorphisms of methionine synthase and methionine synthase reductase on total plasma homocysteine in the NHLBI Family Heart Study. (2003) (106)
Polymorphisms in the Methylenetetrahydrofolate Reductase Gene (2001) (105)
High intake of folic acid disrupts embryonic development in mice. (2011) (103)
Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria (2000) (98)
Maternal methylenetetrahydrofolate reductase deficiency and low dietary folate lead to adverse reproductive outcomes and congenital heart defects in mice. (2005) (97)
Metabolic derangement of methionine and folate metabolism in mice deficient in methionine synthase reductase. (2007) (97)
Annotation Molecular genetics of methylenetetrahydrofolate reductase deficiency (1996) (96)
Association between the methylenetetrahydrofolate reductase 677C→T missense mutation and schizophrenia (2000) (92)
The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects (2009) (92)
Genetic modulation of homocysteinemia. (2000) (91)
Steatosis in mice is associated with gender, folate intake, and expression of genes of one-carbon metabolism. (2010) (90)
Investigations of a common genetic variant in betaine-homocysteine methyltransferase (BHMT) in coronary artery disease. (2003) (87)
Molecular genetics of methylenetetrahydrofolate reductase deficiency. (1996) (86)
Effect of Hyperhomocystinemia and Hypertension on Endothelial Function in Methylenetetrahydrofolate Reductase–Deficient Mice (2003) (85)
Cystinuria subtype and the risk of nephrolithiasis. (1998) (84)
MTHFR deficiency or reduced intake of folate or choline in pregnant mice results in impaired short-term memory and increased apoptosis in the hippocampus of wild-type offspring (2015) (81)
Molecular genetics of cystinuria: mutation analysis of SLC3A1 and evidence for another gene in type I (silent) phenotype. (1998) (79)
A Common Polymorphism in Methionine Synthase Reductase Increases Risk of Premature Coronary Artery Disease (2000) (79)
Inherited thrombophilia and preeclampsia within a multicenter cohort: the Montreal Preeclampsia Study. (2009) (79)
Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis. (1992) (78)
Epigenome-wide association of liver methylation patterns and complex metabolic traits in mice. (2015) (78)
Evaluation of genetic variants in the reduced folate carrier and in glutamate carboxypeptidase II for spina bifida risk. (2003) (78)
Dietary and genetic compromise in folate availability reduces acetylcholine, cognitive performance and increases aggression: Critical role of S-adenosyl methionine (2008) (77)
Influence of methylenetetrahydrofolate reductase genotype, age, vitamin B-12, and folate status on plasma homocysteine in children. (2000) (74)
Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency. (2004) (74)
Moderately high intake of folic acid has a negative impact on mouse embryonic development. (2013) (73)
Impact of Dnmt1 deficiency, with and without low folate diets, on tumor numbers and DNA methylation in Min mice. (2003) (71)
Common variant in betaine‐homocysteine methyltransferase (BHMT) and risk for spina bifida (2003) (70)
Oncogenic role of PDK4 in human colon cancer cells (2017) (67)
Fenofibrate raises plasma homocysteine levels in the fasted and fed states. (2001) (66)
Vasculopathic and thrombophilic risk factors for spontaneous preterm birth. (2009) (64)
Methylenetetrahydrofolate reductase 677 C --> T polymorphism, plasma folate, vitamin B(12) concentrations, and risk of preeclampsia among black African women from Zimbabwe. (2000) (63)
Isolation and expression of a cDNA encoding the precursor for a novel member (ACADSB) of the acyl-CoA dehydrogenase gene family. (1994) (62)
Methylenetetrahydrofolate reductase deficiency and low dietary folate increase embryonic delay and placental abnormalities in mice. (2009) (62)
Multiple transcription start sites and alternative splicing in the methylenetetrahydrofolate reductase gene result in two enzyme isoforms (2002) (61)
Molecular cloning, expression and physical mapping of the human methionine synthase reductase gene. (1999) (61)
Molecular genetic aspects of hyperhomocysteinemia and its relation to folic acid. (1996) (60)
Translational control of ornithine aminotransferase. Modulation by initiation factor eIF-4E. (1991) (60)
Polymorphisms in methionine synthase reductase and betaine-homocysteine S-methyltransferase genes: risk of placental abruption. (2007) (59)
Methylenetetrahydrofolate 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 acid. (2003) (59)
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 (2010) (58)
Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations. (1990) (57)
Severe methylenetetrahydrofolate reductase deficiency in mice results in behavioral anomalies with morphological and biochemical changes in hippocampus. (2012) (56)
Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD‐responsive mutation (2003) (56)
Taurine transport in renal brush-border-membrane vesicles. (1979) (55)
Postnatal cerebellar defects in mice deficient in methylenetetrahydrofolate reductase (2005) (54)
High 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 (2017) (53)
Molecular Biology of Methylenetetrahydrofolate Reductase (MTHFR) and Overview of Mutations/Polymorphisms (2013) (52)
Renal transport of taurine adapts to perturbed taurine homeostasis. (1982) (52)
Strain differences in mice highlight the role of DNA damage in neoplasia induced by low dietary folate. (2008) (50)
Low dietary choline and low dietary riboflavin during pregnancy influence reproductive outcomes and heart development in mice. (2010) (50)
Mice deficient in methylenetetrahydrofolate reductase exhibit tissue-specific distribution of folates. (2004) (50)
Low dietary folate initiates intestinal tumors in mice, with altered expression of G2-M checkpoint regulators polo-like kinase 1 and cell division cycle 25c. (2006) (49)
Small artery mechanics in hyperhomocysteinemic mice: effects of angiotensin II (2004) (48)
SLC7A9 mutations in all three cystinuria subtypes. (2002) (48)
Plasma homocysteine concentration in children with chronic renal failure (2001) (47)
Renal tubular cells are potential targets for epidermal growth factor. (1988) (47)
The thermolabile variant 677C→T can further reduce activity when expressed in CIS with severe mutations for human methylenetetrahydrofolate reductase (2000) (47)
Strain-specific defects in testicular development and sperm epigenetic patterns in 5,10-methylenetetrahydrofolate reductase-deficient mice. (2010) (46)
ApcMin/+ mouse model of colon cancer: Gene expression profiling in tumors (2004) (46)
Methylenetetrahydrofolate reductase deficiency and low dietary folate reduce tumorigenesis in Apcmin/+ mice (2009) (45)
Betaine supplementation improves the atherogenic risk factor profile in a transgenic mouse model of hyperhomocysteinemia. (2007) (44)
Molecular genetics of cystinuria in French Canadians: identification of four novel mutations in type I patients. (1996) (42)
Methionine synthase reductase deficiency results in adverse reproductive outcomes and congenital heart defects in mice. (2008) (42)
Maternal vitamin use, infant C677T mutation in MTHFR, and isolated cleft palate risk. (1999) (42)
Novel PKU mutation on haplotype 2 in French-Canadians. (1989) (41)
Age dependence of the influence of methylenetetrahydrofolate reductase genotype on plasma homocysteine level. (2003) (40)
Maternal folate deficiency affects proliferation, but not apoptosis, in embryonic mouse heart. (2006) (40)
Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene (1992) (39)
Valproic acid increases expression of methylenetetrahydrofolate reductase (MTHFR) and induces lower teratogenicity in MTHFR deficiency (2008) (37)
A novel mouse model for genetic variation in 10-formyltetrahydrofolate synthetase exhibits disturbed purine synthesis with impacts on pregnancy and embryonic development. (2013) (37)
Haplotype identity between individuals who share a CFTR mutation allele “identical by descent”: demonstration of the usefulness of the haplotype-sharing concept for gene mapping in real populations (1996) (36)
Assignment of the gene for cystinuria (SLC3A1) to human chromosome 2p21 by fluorescence in situ hybridization. (1994) (34)
Complete deficiency of methylenetetrahydrofolate reductase in mice is associated with impaired retinal function and variable mortality, hematological profiles, and reproductive outcomes (2011) (34)
Folate and Genetics (2004) (33)
Prenatal diagnosis of ornithine transcarbamylase deficiency with use of DNA polymorphisms. (1986) (33)
Deficiency of complex III of the mitochondrial respiratory chain in a patient with facioscapulohumeral disease. (1991) (32)
Associations between 2 polymorphisms in the methylenetetrahydrofolate reductase gene and placental abruption. (2007) (32)
In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus (1992) (31)
Infant methionine synthase variants and risk for spina bifida (1999) (31)
Antisense Inhibition of Methylenetetrahydrofolate Reductase Reduces Cancer Cell Survival In vitro and Tumor Growth In vivo (2005) (31)
Cloning of a cDNA for short/branched chain acyl-Coenzyme A dehydrogenase from rat and characterization of its tissue expression and substrate specificity. (1996) (31)
Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia. (2014) (31)
Cystic fibrosis mutations in North American populations of French ancestry: analysis of Quebec French-Canadian and Louisiana Acadian families. (1990) (30)
Regulation and expression of carbamyl phosphate synthetase I mRNA in developing rat liver and Morris hepatoma 5123D. (1984) (30)
Methotrexate-induced apoptosis is enhanced by altered expression of methylenetetrahydrofolate reductase (2009) (29)
Hyperhomocysteinemia is associated with hypertriglyceridemia in mice with methylenetetrahydrofolate reductase deficiency. (2009) (29)
Transient neonatal cystinuria. (2005) (29)
Mouse model for deficiency of methionine synthase reductase exhibits short-term memory impairment and disturbances in brain choline metabolism. (2014) (28)
β,β-carotene 15,15'-monooxygenase and its substrate β-carotene modulate migration and invasion in colorectal carcinoma cells. (2013) (27)
Inherited Thrombophilia and Preeclampsia Within a Multicenter Cohort: The Montreal Preeclampsia Study (2009) (27)
Impact of methylenetetrahydrofolate reductase deficiency and low dietary folate on the development of neural tube defects in splotch mice. (2006) (26)
Risk of congenital heart defects is influenced by genetic variation in folate metabolism (2012) (26)
Testicular MTHFR deficiency may explain sperm DNA hypomethylation associated with high dose folic acid supplementation (2018) (26)
Antioxidant Vitamins, Long-Chain Fatty Acids, and Spontaneous Preterm Birth (2009) (26)
Dietary intake of S-(alpha-carboxybutyl)-DL-homocysteine induces hyperhomocysteinemia in rats. (2010) (25)
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 methylation. (2010) (25)
The Molecular Basis of Cystinuria: An Update (2000) (25)
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. (2013) (25)
Genes with Aberrant Expression in Murine Preneoplastic Intestine Show Epigenetic and Expression Changes in Normal Mucosa of Colon Cancer Patients (2013) (25)
Effects of betaine in a murine model of mild cystathionine-β-synthase deficiency (2004) (24)
Reduced folate carrier 80A→G polymorphism, plasma folate, and risk of placental abruption (2008) (24)
Decreased proportion of female newborn infants homozygous for the 677 C-->T mutation in methylenetetrahydrofolate reductase. (1999) (24)
Endoplasmic Reticulum Stress Increases the Expression of Methylenetetrahydrofolate Reductase through the IRE1 Transducer* (2008) (24)
Erratum: Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification (1994) (24)
Methylenetetrahydrofolate reductase (MTHFR): a novel target for cancer therapy. (2008) (23)
Genetic Variation: Effect on Folate Metabolism and Health (2009) (23)
Retinal Ganglion Cell Loss and Mild Vasculopathy in Methylene Tetrahydrofolate Reductase (Mthfr)-Deficient Mice: A Model of Mild Hyperhomocysteinemia. (2015) (23)
Homocysteine modulates the effect of simvastatin on expression of ApoA-I and NF-kappaB/iNOS. (2008) (22)
Disturbed one-carbon metabolism causing adverse reproductive outcomes in mice is associated with altered expression of apolipoprotein AI and inflammatory mediators PPARα, interferon-γ, and interleukin-10. (2012) (22)
L206W mutation of the cystic fibrosis gene, relatively frequent in French Canadians, is associated with atypical presentations of cystic fibrosis. (1995) (22)
Mutation profiles of phenylketonuria in Quebec populations: evidence of stratification and novel mutations. (1994) (21)
Differential gene expression and methylation in the retinoid/PPARA pathway and of tumor suppressors may modify intestinal tumorigenesis induced by low folate in mice. (2013) (21)
Is the SLC7A10 gene on chromosome 19 a candidate locus for cystinuria? (2001) (21)
Microarray analysis of brain RNA in mice with methylenetetrahydrofolate reductase deficiency and hyperhomocysteinemia. (2002) (20)
Susceptibility to intestinal tumorigenesis in folate-deficient mice may be influenced by variation in one-carbon metabolism and DNA repair. (2011) (20)
Shifting landscapes of human MTHFR missense-variant effects (2021) (20)
Intestinal neoplasia induced by low dietary folate is associated with altered tumor expression profiles and decreased apoptosis in mouse normal intestine. (2009) (20)
Moderate folic acid supplementation and MTHFD1-synthetase deficiency in mice, a model for the R653Q variant, result in embryonic defects and abnormal placental development. (2016) (19)
Increased Resistance to Malaria in Mice with Methylenetetrahydrofolate Reductase (Mthfr) Deficiency Suggests a Mechanism for Selection of the MTHFR 677C>T (c.665C>T) Variant (2014) (19)
Altered expression of methylenetetrahydrofolate reductase modifies response to methotrexate in mice (2008) (19)
Genetic and nutritional deficiencies in folate metabolism influence tumorigenicity in Apcmin/+ mice. (2007) (18)
Associations between populations, phenylketonuria mutations and RFLP haplotypes at the phenylalanine hydroxylase locus: an overview (1993) (18)
Loss of heterozygosity of methylenetetrahydrofolate reductase in colon carcinomas. (1999) (18)
Methylenetetrahydrofolate reductase (MTHFR) deficiency enhances resistance against cytomegalovirus infection (2009) (17)
A gamma-aminobutyric acid-specific transport mechanism in mammalian kidney. (1985) (17)
Regulatory studies of murine methylenetetrahydrofolate reductase reveal two major promoters and NF-kappaB sensitivity. (2005) (16)
[Molecular genetics of MTHFR: polymorphisms are not all benign]. (2007) (15)
Newborn screening for sickle cell and other hemoglobinopathies: a Canadian pilot study. (1992) (15)
Chromosomal localization of the gene for the human trifunctional enzyme, methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase. (1989) (15)
Mefolinate (5-methyltetrahydrofolate), but not folic acid, decreases mortality in an animal model of severe methylenetetrahydrofolate reductase deficiency (2008) (15)
Methylenetetrahydrofolate reductase: a link between folate and riboflavin? (2002) (15)
High Dietary Folate in Mice Alters Immune Response and Reduces Survival after Malarial Infection (2015) (15)
Assignment of the gene for the core protein II (UQCRC2) subunit of the mitochondrial cytochrome bc1 complex to human chromosome 16p12. (1993) (15)
Studies of urinary cystine precipitation in vitro: ontogeny of cystine nephrolithiasis and identification of meso-2,3-dimercaptosuccinic acid as a potential therapy for cystinuria. (2003) (15)
Effects of betaine in a murine model of mild cystathionine-beta-synthase deficiency. (2004) (15)
Mild Methylenetetrahydrofolate Reductase Deficiency Alters Inflammatory and Lipid Pathways in Liver (2018) (14)
Purification and characterization of methylenetetrahydrofolate reductase from human cadaver liver. (1990) (14)
Clinical application of DNA analysis in a family with OTC deficiency. (1986) (14)
Early Manifestations of Brain Aging in Mice Due to Low Dietary Folate and Mild MTHFR Deficiency (2018) (14)
Moderate Folic Acid Supplementation in Pregnant Mice Results in Behavioral Alterations in Offspring with Sex-Specific Changes in Methyl Metabolism (2020) (14)
Antisense inhibition of methylenetetrahydrofolate reductase reduces survival of methionine-dependent tumour lines (2002) (13)
The curly-tail (ct) mouse, an animal model of neural tube defects, displays altered homocysteine metabolism without folate responsiveness or a defect in Mthfr. (2002) (13)
Spina bifida, folate metabolism, and dietary folate intake in a Northern Canadian aboriginal population (2002) (13)
Hypertaurinuria in the C57BL/6J mouse: altered transport at the renal basolateral membrane. (1983) (12)
Translational control of ornithine-δ-aminotransferase (OAT) by estrogen (1993) (11)
Prenatal diagnosis for severe methylenetetrahydrofolate reductase deficiency by linkage analysis and enzymatic assay. (2005) (11)
[38] Synthesis and intracellular transport of mitochondrial matrix proteins in rat liver: studies in vivo and in vitro (1983) (11)
Localization of short/branched chain acyl-CoA dehydrogenase (ACADSB) to human chromosome 10. (1995) (11)
Evidence for different clinical subtypes of type 1 diabetes mellitus: a prospective study. (1994) (11)
Regulation of ornithine aminotransferase in retinoblastomas. (1989) (10)
The methylenetetrahydrofolate reductase (Mthfr) gene maps to distal mouse Chromosome 4 (1996) (10)
A pseudogene on the X chromosome for the human trifunctional enzyme MTHFD (methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase). (1991) (10)
Targeted insertion of two Mthfr promoters in mice reveals temporal- and tissue-specific regulation (2011) (10)
Effects of glucagon on biosynthesis of the mitochondrial enzyme, carbamoyl-phosphate synthase I, in primary hepatocytes and Morris hepatoma 5123D. (1983) (10)
MTHFD1 formyltetrahydrofolate synthetase deficiency, a model for the MTHFD1 R653Q variant, leads to congenital heart defects in mice. (2015) (10)
Plasma homocysteine concentration changes after renal transplantation in children (2002) (9)
Mthfr as a modifier of the retinal phenotype of Crb1(rd8/rd8) mice. (2016) (9)
Evaluation of metabolic pathway activity in cultured skin fibroblasts and blood leukocytes. (1977) (9)
Assignment of the gene (UQCRFS1) for the Rieske iron-sulfur protein subunit of the mitochondrial cytochrome bc1 complex to the 22q13 and 19q12-q13.1 regions of the human genome. (1994) (8)
Five mutations at the PAH locus account for almost 90% of PKU mutations in French‐Canadians from eastern Quebec (1992) (8)
Congenital deficiency of a 20-kDa subunit of mitochondrial complex I in fibroblasts. (1991) (7)
Quantitative proteomics reveals differentially expressed proteins in murine preneoplastic intestine in a model of intestinal tumorigenesis induced by low dietary folate and MTHFR deficiency (2014) (7)
The MTHFD1 1958G>A variant is associated with elevated C-reactive protein and body mass index in Canadian women from a premature birth cohort. (2014) (7)
Characterization of a pseudogene for murine methylenetetrahydrofolate reductase (2003) (6)
Moderate Folic Acid Supplementation in Pregnant Mice Results in Altered Methyl Metabolism and in Sex-specific Placental Transcription Changes. (2021) (6)
High folic acid intake increases methylation-dependent expression of Lsr and dysregulates hepatic cholesterol homeostasis. (2020) (6)
DNA analysis for ornithine transcarbamylase deficiency (1986) (6)
DNA methyltransferase 1 (Dnmt1) mutation affects Snrpn imprinting in the mouse male germ line. (2012) (6)
ESCHERICHIA COLI METHYLENETETRAHYDROFOLATE REDUCTASE (1999) (6)
Low Dietary Folate Interacts with MTHFD1 Synthetase Deficiency in Mice, a Model for the R653Q Variant, to Increase Incidence of Developmental Delays and Defects. (2018) (6)
Assignment of the gene for the cytochrome c1 subunit of the mitochondrial cytochrome bc1 complex (CYC1) to human chromosome 8q24.3. (1994) (5)
Genetic analysis and pancreatic function in cystic fibrosis (1990) (5)
Molecular Biology of Methylenetetrahydrofolate Reductase (MTHFR): Interrelationships with Folic Acid, Homocysteine and Vascular Disease (2000) (4)
Moderate Folic Acid Supplementation in Pregnant Mice Results in Altered Sex-Specific Gene Expression in Brain of Young Mice and Embryos (2022) (4)
Murine diet/tissue and human brain tumorigenesis alter Mthfr/MTHFR 5′-end methylation (2016) (4)
Murine MTHFD1‐synthetase deficiency, a model for the human MTHFD1 R653Q polymorphism, decreases growth of colorectal tumors (2017) (4)
b-Carotene 15 , 15 #-monooxygenase 1 and its substrate b-carotene modulate migration and invasion in colorectal carcinoma cells 1 – 4 (2013) (3)
Dietary intake of S -( α -carboxybutyl)- DL -homocysteine induces hyperhomocysteinemia in rats (2010) (3)
GABA and Taurine What Are Metabolites Like This Doing in Places Like That (1982) (3)
Methionine Synthase Reductase (2002) (3)
P4-357 Dietary and genetic compromise in folate availability reduces acetylcholine and cognitive performance: Critical role of S-adenosyl methionine (2006) (3)
Genetics of Mammalian 5,10-Methylenetetrahydrofolate Reductase (1997) (3)
Homocystinuria (methylenetetrahydrofolate reductase deficiency) and mutation of factor V gene (1998) (3)
Antisense inhibition of methylenetetrahydrofolate reductase results in neural tube defects in cultured mouse embryos (1997) (3)
820 ADDITIONAL RESTRICTION FRAGMENT LENGTH POLYMORPHISMS (RFLS)FOR DETECTION OF ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY (1985) (2)
ENDOPLASMIC RETICULUM STRESS INCREASES THE EXPRESSION OF METHYLENETETRAHYDROFOLATE REDUCTASE THROUGH THE IRE 1 TRANSDUCER * (2007) (2)
Methylenetetrahydrofolate Reductase Polymorphisms: Pharmacogenetic Effects (2013) (2)
The 677C > T variant in methylenetetrahydrofolate reductase causes morphological and functional cerebrovascular deficits in mice (2021) (2)
GENE DELETION AND RESTRICTION FRAGMENT LENGTH POLYMORPHISM (RFLP) AT THE HUMAN ORNITHINE TRANSCARBAMYLASE (OTC) LOCUS (1984) (2)
Frequency and phenotypic consequences of the 3199del6 CFTR mutation in French Canadians (2005) (2)
Genetic Variation in Folate Metabolism (2002) (2)
Deficient synthesis of MTHFD, a trifunctional folate-dependent enzyme, in the CHO Ade−E mutant (1991) (2)
Design and rationale of a genetic cohort study on congenital cardiac disease: experiences from a multi-institutional platform in Quebec (2011) (2)
Cerebral vascular complication and hyperhomocysteinemia in a cystinotic uremic child (1999) (1)
A common risk variant in the MTHFR gene contributes to age‐related cerebrovascular dysfunction in VCID (2020) (1)
CHROMOSOMAL ASSIGNMENT OF THE HUMAN GENE FOR THE TRIFUNCTIONAL FOLATE-DEPENDENT ENZYME: EVIDENCE FOR MULTIPLE LOCI (1987) (1)
Genetic variation in folate metabolism - impact on development. (2002) (1)
Biochemistry and genetics of folate metabolism (2010) (1)
Vitamin B9 - folate (2011) (1)
GENETIC DISORDERS - DEVELOPMENT SLC7A9 mutations in all three cystinuria subtypes (2002) (1)
Translational control of ornithine-delta-aminotransferase (OAT) by estrogen. (1993) (1)
Risk of placental abruption in relation to variants in betaine-homocysteine S-Methyltransferase and methionine synthase reductase genes: The New Jersey-Placental Abruption Study (2006) (1)
Mild Choline Deficiency and MTHFD1 Synthetase Deficiency Interact to Increase Incidence of Developmental Delays and Defects in Mice (2021) (1)
Synthesis and intracellular transport of mitochondrial matrix proteins in rat liver: studies in vivo and in vitro. (1983) (1)
Studies of a mutation in methylenetetrahydrofolate reductase. A risk factor for cardiovascular disease and neural tube defects (1997) (1)
Folate and Epigenetics: Colorectal Cancer Risk and Detection (2017) (1)
Inherited thrombophilia and preeclampsia: Results of the montreal preeclampsia study (2006) (1)
A common mutation in the 5,10-methylene tetrahydrofolate reductase (MTHFR) gen as a risk factor for neural tube defects (1995) (1)
A common mutation in the 5,10-methylene tetra hydrofolate reductase as a risk factor for spina bifida (1996) (1)
Renal function, homocysteine, and other plasma thiol concentrations during the postrenal transplant period. (2002) (1)
Interview with Rima Rozen. (2008) (0)
In vitro synthesis of the trifunctional protein, methylenetetrahydrofolate dehydrogenase--methenyltetrahydrofolate cyclohydrolase--formyltetrahydrofolate synthetase, in normal and transformed cells. (1985) (0)
Mapping and sequencing the human genome. Prepared by the Committee on Mapping and Sequencing the Human Genome, board of basic biology, commission on life sciences, National Research Council. X + 116 pp. Washington, D.C. National Academy Press: 1988, $14.95 (1989) (0)
Polymorphisms of the methylenetetrahydrofolate reductase gene and placental abruption: The New Jersey-Placental Abruption Study (2006) (0)
NEW MUTATION IDENTIFIED IN FOUR UNRELATED PATIENTS WITH METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY. † 843 (1996) (0)
Abstract 3750: Endothelial NO Synthase Uncoupling Impairs Formation and Induces Senescence of Endothelial Progenitor Cells in Mild Hyperhomocysteinemic Mice (2008) (0)
Disturbances in Folate Metabolism and Their Impact on Development (2017) (0)
10.14 Peroxisome Proliferator-Activated Receptors Activator, Rosiglitazone, Improves Vascular Structure and Reduces Lipid Deposition in Atherosclerotic Mthfr Knock-Out Mice (2007) (0)
630 RENAL RESPONSE TO ESSENTIAL AMINO ACID DEPRIVATION: ADAPTATION OF TAURINE (TAU) TRANSPORT (1981) (0)
Is the Heat Labile Variant of Methylene Tetrahydrofolate Reductase (MTHFR-HL) Associated with Elevated Plasma Total Homocysteine (tHcy) and Premature Coronary Artery Disease (CAD)? (2001) (0)
PO2-37 HYPERHO MOCYSTEINEMIA REDUCES APOLIPOPROTEIN A-I EXPRESSION (2007) (0)
vascular function in mice Effect of Mthfr genotype on diet-induced hyperhomocysteinemia and (2013) (0)
Comprehensive characterization of retinal phenotypic changes in methylene tetrahydrofolate reductase (MTHFR) deficient mice: a model of hyperhomocysteinemia (HHcy) (2014) (0)
Murine diet/tissue and human brain tumorigenesis alter Mthfr/MTHFR 5′-end methylation (2016) (0)
16th All Ireland social medicine meeting (1998) (0)
Association Between Two Mutations of the 5,10-Methylenetetrahydrofolate Reductase Gene and Preterm Birth. (2006) (0)
Molecular analysis of a woman with late onset cystic fibrosis. (1990) (0)
Post-transcriptional regulation of ornithine-?-aminotransferase (OAT) IN retinoblastomas (1990) (0)
Early Manifestations of Brain Aging in Mice Due to Low Dietary Folate and Mild MTHFR Deficiency (2018) (0)
Methylenetetrahydrofolate Reductase: Comparison of the Enzyme from Mammalian and Bacterial Sources (1997) (0)
Genetic or nutritional disturbances in folate‐related pathways and epigenetic interactions (2017) (0)
The structure and properties of methylenetetrahydrofolate reductasefrom Escherichia coli suggest how folate ameliorates humanhyperhomocysteinemia (2019) (0)
Mild hyperhomocysteinemia (Hhcy) leads to modest retinal ganglion cell (RGC) dysfunction and focal vascular leakiness in rd8-free methylenetetrahydrofolate reductase (Mthfr) deficient mice. (2015) (0)
The methionine synthase (Mtr) gene maps to proximal mouse Chromosome 13 (1997) (0)
Royal academy of medicine in Ireland international conference on homocysteine metabolism from basic science to clinical medicine (1995) (0)
Antisense inhibition of methylenetetrahydrofolate reductase (MTHFR) reduces survival of cancer cells in vitro and in vivo. (2004) (0)
Seven novel mutations at the 5,10-methylenetetrahydrofolate reductase locus (1994) (0)
Folate Deficiency and Supplementation Result in DNA Methylation Defects in Sperm. (2010) (0)
Mapping our genes. Genome projects: How big, how fast? office of technology assessment, Congress of the United States. 218 pp. Baltimore: Johns Hopkins Press. 1988, $10.00 (1989) (0)
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