Works by ROZEN, Rima
Results: 61
Increased Resistance to Malaria in Mice with Methylenetetrahydrofolate Reductase ( Mthfr) Deficiency Suggests a Mechanism for Selection of the MTHFR 677 C> T (c.665 C> T) Variant.
- Published in:
- Human Mutation, 2014, v. 35, n. 5, p. 594, doi. 10.1002/humu.22533
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- Publication type:
- Article
Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus.
- Published in:
- Nature, 1985, v. 313, n. 6005, p. 815, doi. 10.1038/313815a0
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- Publication type:
- Article
The structure and properties of methylenetetrahydrofolate reductase from Escherichia coli suggest how folate ameliorates human hyperhomocysteinemia.
- Published in:
- Nature Structural Biology, 1999, v. 6, n. 4, p. 359
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- Publication type:
- Article
Homocysteine‐betaine interactions in a murine model of 5,10‐methylenetetrahydrofolate reductase deficiency.
- Published in:
- FASEB Journal, 2003, v. 17, n. 3, p. 1, doi. 10.1096/fj.02-0456fje
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- Publication type:
- Article
Valproic acid increases expression of methylenetetrahydrofolate reductase (MTHFR) and induces lower teratogenicity in MTHFR deficiency.
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- Journal of Cellular Biochemistry, 2008, v. 105, n. 2, p. 467, doi. 10.1002/jcb.21847
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- Article
ApcMin/+ mouse model of colon cancer: Gene expression profiling in tumors.
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- Journal of Cellular Biochemistry, 2004, v. 93, n. 6, p. 1242, doi. 10.1002/jcb.20236
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- Article
Reduced folate carrier 80A→G polymorphism, plasma folate, and risk of placental abruption.
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- Human Genetics, 2008, v. 124, n. 2, p. 137, doi. 10.1007/s00439-008-0531-7
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- Article
Studies of methionine cycle intermediates (SAM, SAH), DNA methylation and the impact of folate deficiency on tumor numbers in Min mice.
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- Carcinogenesis, 2002, v. 23, n. 1, p. 61, doi. 10.1093/carcin/23.1.61
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- Article
The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects.
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- Human Mutation, 2009, v. 30, n. 2, p. 212, doi. 10.1002/humu.20830
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- Publication type:
- Article
Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD‐responsive mutationCommunicated by Jan P. Kraus.
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- Human Mutation, 2003, v. 21, n. 5, p. 509, doi. 10.1002/humu.10193
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- Article
The thermolabile variant 677C→T can further reduce activity when expressed in CIS with severe mutations for human methylenetetrahydrofolate reductase.
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- Human Mutation, 2000, v. 16, n. 2, p. 132, doi. 10.1002/1098-1004(200008)16:2<132::AID-HUMU5>3.0.CO;2-T
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- Article
Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria.
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- Human Mutation, 2000, v. 15, n. 3, p. 280, doi. 10.1002/(SICI)1098-1004(200003)15:3<280::AID-HUMU9>3.0.CO;2-I
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- Publication type:
- Article
In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus.
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- Human Mutation, 1992, v. 1, n. 2, p. 147, doi. 10.1002/humu.1380010210
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- Publication type:
- Article
SLC7A9 mutations in all three cystinuria subtypes.
- Published in:
- Kidney International, 2002, v. 62, n. 5, p. 1550, doi. 10.1046/j.1523-1755.2002.00602.x
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- Article
Cystinuria subtype and the risk of nephrolithiasis.
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- Kidney International, 1998, v. 54, n. 1, p. 56, doi. 10.1046/j.1523-1755.1998.00957.x
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- Publication type:
- Article
Molecular genetics of cystinuria: Mutation analysis of SLC3A1 and evidence for another gene in the Type I (silent) phenotype.
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- Kidney International, 1998, v. 54, n. 1, p. 48, doi. 10.1046/j.1523-1755.1998.00956.x
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- Publication type:
- Article
Molecular genetics of cystinuria in French Canadians: identification of four novel mutations in type I patients.
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- 1996
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- Publication type:
- journal article
Quantitative proteomics reveals differentially expressed proteins in murine preneoplastic intestine in a model of intestinal tumorigenesis induced by low dietary folate and MTHFR deficiency.
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- Proteomics, 2014, v. 14, n. 21/22, p. 2558, doi. 10.1002/pmic.201400280
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- Publication type:
- Article
Mouse model for deficiency of methionine synthase reductase exhibits short-term memory impairment and disturbances in brain choline metabolism.
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- Biochemical Journal, 2014, v. 461, n. 2, p. 205, doi. 10.1042/BJ20131568
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- Article
Folate and Genetics.
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- Journal of Food Science (Wiley-Blackwell), 2004, v. 69, n. 1, p. SNQ65, doi. 10.1111/j.1365-2621.2004.tb17890.x
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- Publication type:
- Article
High Dietary Folate in Mice Alters Immune Response and Reduces Survival after Malarial Infection.
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- PLoS ONE, 2015, v. 10, n. 11, p. 1, doi. 10.1371/journal.pone.0143738
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- Publication type:
- Article
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
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- American Journal of Human Biology, 1989, v. 1, n. 4, p. 496, doi. 10.1002/ajhb.1310010415
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- Publication type:
- Article
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.
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- American Journal of Human Biology, 1989, v. 1, n. 4, p. 496, doi. 10.1002/ajhb.1310010416
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- Publication type:
- Article
P4-357: Dietary and genetic compromise in folate availability reduces acetylcholine and cognitive performance: Critical role of S-adenosyl methionine
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- 2006
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- Publication type:
- Abstract
P4-357: Dietary and genetic compromise in folate availability reduces acetylcholine and cognitive performance: Critical role of S-adenosyl methionine
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- 2006
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- Publication type:
- Abstract
Severe Methylenetetrahydrofolate Reductase Deficiency Clinical Clues to a Potentially Treatable Cause of Adult-Onset Hereditary Spastic Paraplegia.
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- JAMA Neurology, 2014, v. 71, n. 7, p. 901, doi. 10.1001/jamaneurol.2014.116
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- Publication type:
- Article
Risk of congenital heart defects is influenced by genetic variation in folate metabolism.
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- Cardiology in the Young, 2013, v. 23, n. 1, p. 89, doi. 10.1017/S1047951112000431
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- Publication type:
- Article
Design and rationale of a genetic cohort study on congenital cardiac disease: experiences from a multi-institutional platform in Quebec.
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- Cardiology in the Young, 2011, v. 21, n. 6, p. 654, doi. 10.1017/S1047951111000813
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- Publication type:
- Article
Early Manifestations of Brain Aging in Mice Due to Low Dietary Folate and Mild MTHFR Deficiency.
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- Molecular Neurobiology, 2019, v. 56, n. 6, p. 4175, doi. 10.1007/s12035-018-1375-3
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- Article
Postnatal cerebellar defects in mice deficient in methylenetetrahydrofolate reductase
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- International Journal of Developmental Neuroscience, 2005, v. 23, n. 5, p. 465, doi. 10.1016/j.ijdevneu.2005.05.007
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- Article
Plasma homocysteine concentration changes after renal transplantation in children.
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- Pediatric Nephrology, 2002, v. 17, n. 7, p. 520, doi. 10.1007/s00467-002-0868-4
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- Article
Plasma homocysteine concentration in children with chronic renal failure.
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- Pediatric Nephrology, 2001, v. 16, n. 10, p. 805, doi. 10.1007/s004670100648
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- Article
Vasculopathic and thrombophilic risk factors for spontaneous preterm birth.
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- International Journal of Epidemiology, 2009, v. 38, n. 3, p. 715, doi. 10.1093/ije/dyp167
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- Article
Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 5, p. 433, doi. 10.1093/hmg/10.5.433
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- Publication type:
- Article
Age Dependence of the Influence of Methylenetetrahydrofolate Reductase Genotype on Plasma Homocysteine Level.
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- American Journal of Epidemiology, 2003, v. 158, n. 9, p. 871, doi. 10.1093/aje/kwg234
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- Article
Maternal Vitamin Use, Genetic Variation of Infant Methylenetetrahydrofolate Reducatase, and Risk for spina Bifida.
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- American Journal of Epidemiology, 1998, v. 148, n. 1, p. 30, doi. 10.1093/oxfordjournals.aje.a009555
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- Article
Biochemistry and genetics of folate metabolism.
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- 2010
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- Abstract
Socio-economic disparities in preterm birth: causal pathways and mechanisms.
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- Paediatric & Perinatal Epidemiology, 2001, v. 15, p. 104, doi. 10.1046/j.1365-3016.2001.00012.x
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- Publication type:
- Article
Impact of Dnmt1 deficiency, with and without low folate diets, on tumor numbers and DNA methylation in Min mice.
- Published in:
- Carcinogenesis, 2003, v. 24, n. 1, p. 39, doi. 10.1093/carcin/24.1.39
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- Publication type:
- Article
Moderate Folic Acid Supplementation in Pregnant Mice Results in Behavioral Alterations in Offspring with Sex-Specific Changes in Methyl Metabolism.
- Published in:
- Nutrients, 2020, v. 12, n. 6, p. 1716, doi. 10.3390/nu12061716
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- Article
Transient neonatal cystinuria.
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- 2005
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- Publication type:
- journal article
Complete deficiency of methylenetetrahydrofolate reductase in mice is associated with impaired retinal function and variable mortality, hematological profiles, and reproductive outcomes.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 147, doi. 10.1007/s10545-010-9127-1
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- Publication type:
- Article
Testicular MTHFR deficiency may explain sperm DNA hypomethylation associated with high dose folic acid supplementation.
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- Human Molecular Genetics, 2018, v. 27, n. 7, p. 1123, doi. 10.1093/hmg/ddy021
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- Publication type:
- Article
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.
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- Human Molecular Genetics, 2017, v. 26, n. 5, p. 888, doi. 10.1093/hmg/ddx004
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- Article
THE AUTHORS REPLY.
- Published in:
- American Journal of Epidemiology, 2009, v. 150, n. 3, p. 324
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- Publication type:
- Article
The 677C > T variant in methylenetetrahydrofolate reductase causes morphological and functional cerebrovascular deficits in mice.
- Published in:
- Journal of Cerebral Blood Flow & Metabolism, 2022, v. 42, n. 12, p. 2333, doi. 10.1177/0271678X221122644
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- Publication type:
- Article
Murine diet/tissue and human brain tumorigenesis alter Mthfr/MTHFR 5′-end methylation.
- Published in:
- Mammalian Genome, 2016, v. 27, n. 3/4, p. 122, doi. 10.1007/s00335-016-9624-0
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- Publication type:
- Article
Targeted insertion of two Mthfr promoters in mice reveals temporal- and tissue-specific regulation.
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- Mammalian Genome, 2011, v. 22, n. 11/12, p. 635, doi. 10.1007/s00335-011-9351-5
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- Publication type:
- Article
Multiple transcription start sites and alternative splicing in the methylenetetrahydrofolate reductase gene result in two enzyme isoforms.
- Published in:
- Mammalian Genome, 2002, v. 13, n. 9, p. 483, doi. 10.1007/s00335-002-2167-6
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- Publication type:
- Article
Folic Acid and Methyltetrahydrofolate Supplementation in the Mthfr 677C>T Mouse Model with Hepatic Steatosis.
- Published in:
- Nutrients, 2025, v. 17, n. 1, p. 82, doi. 10.3390/nu17010082
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- Publication type:
- Article