Mthfr

Summary

Gene Symbol: Mthfr
Description: methylenetetrahydrofolate reductase
Alias: methylenetetrahydrofolate reductase, 5,10-methylenetetrahydrofolate reductase (NADPH), methylenetetrahydrofolate reductase (NAD(P)H)
Species: rat

Top Publications

  1. ncbi Polymorphisms of 5,10-methylenetetrahydrofolate reductase (MTHFR C677T) and thymidylate synthase enhancer region (TSER) as a risk factor of cholangiocarcinoma in a Korean population
    Kwang Hyun Ko
    Department of Internal Medicine, College of Medicine, Pochon CHA University, Seongnam, South Korea
    Anticancer Res 26:4229-33. 2006
  2. ncbi Sudden hearing loss and MTHFR 677C>T/1298A>C gene polymorphisms
    P Capaccio
    Clinica Otorinolaringoiatrica, Azienda Ospedaliera L Sacco Polo Universitario Vialba, Ospedale Maggiore IRCCS, Milan, Italy
    Genet Med 7:206-8. 2005
  3. ncbi C677T variant in the methylentetrahydrofolate reductase gene is a genetic risk factor for primary open-angle glaucoma
    Anselm G M Jünemann
    Department of Ophthalmology, Friedrich Alexander University of Erlangen Nuremberg, Erlangen, Germany
    Am J Ophthalmol 139:721-3. 2005
  4. ncbi MTHFR C677T and A1298C polymorphisms are risk factors for Down's syndrome in Indian mothers
    Amit Kumar Rai
    Cytogenetics Laboratory, Department of Zoology, Banaras Hindu University, 221005, Varanasi, India
    J Hum Genet 51:278-83. 2006
  5. ncbi MTHFR C677T and A1298C gene polymorphisms and hyperhomocysteinemia as risk factors of diabetic nephropathy in type 2 diabetes patients
    Nabil Mtiraoui
    Research Unit of Haematological and Autoimmune Diseases, Faculty of Pharmacy, Monastir, Center University, Tunisia
    Diabetes Res Clin Pract 75:99-106. 2007
  6. ncbi Methylenetetrahydrofolate reductase genetic polymorphisms in patients with primary open-angle glaucoma
    Madeleine Zetterberg
    Institute of Neuroscience and Physiology, Department of Clinical Neuroscience and Rehabilitation, Section of Ophthalmology, The Sahlgrenska Academy at Goteborg University, Molndal, Sweden
    Ophthalmic Genet 28:47-50. 2007
  7. doi MTHFR gene polymorphism is susceptible to diabetic retinopathy but not to diabetic nephropathy in Japanese type 2 diabetic patients
    Makiko Maeda
    Department of Clinical Evaluation of Medicines and Therapeutics, Graduate School of Pharmaceutical Sciences, Osaka University, Osaka, Japan
    J Diabetes Complications 22:119-25. 2008
  8. doi Effect of the MTHFR C677T and A1298C polymorphisms on survival in patients with advanced CKD and ESRD: a prospective study
    Rex L Jamison
    Veterans Affairs Palo Alto Health Care System, Palo Alto, CA 94304, USA
    Am J Kidney Dis 53:779-89. 2009
  9. ncbi The C677T methylenetetrahydrofolate reductase gene mutation and nephropathy in type 2 diabetes mellitus
    Piotr Ksiazek
    Laboratory for Molecular Diagnostics of Multifactorial Diseases, Department of Nephrology, University Medical School, Jaczewskiego 8, 20 954 Lublin, Poland
    Med Sci Monit 10:BR47-51. 2004
  10. ncbi Synergistic effects of prothrombotic polymorphisms and atherogenic factors on the risk of myocardial infarction in young males
    A Inbal
    Institute of Thrombosis and Hemostasis, Department of Hematology, Chaim Sheba Medical Center, Tel Hashomer, Israel
    Blood 93:2186-90. 1999

Research Grants

  1. FASEB Summer Conference: Folate, B12 and 1C Metabolism
    PATRICK STOVER; Fiscal Year: 2004
  2. REGULATION OF FOLATE CATABOLISM
    PATRICK STOVER; Fiscal Year: 2007
  3. Folate-Genome Interactions in Colorectal Cancer
    PATRICK STOVER; Fiscal Year: 2007
  4. Homeostatic Regulation of Folate Metabolism
    Patrick J Stover; Fiscal Year: 2010
  5. ETIOLOGY OF STROKE IN CHILDREN WITH SICKLE CELL DISEASE
    Sherri Zimmerman; Fiscal Year: 2004
  6. Timing of Rectal Cancer Response to Chemoradiation
    Julio Garcia Aguilar; Fiscal Year: 2009
  7. 14th International Congress on Flavins and Flavoproteins
    ROWENA MATTHEWS; Fiscal Year: 2002
  8. REGULATION OF FOLATE METABOLISM
    ROWENA MATTHEWS; Fiscal Year: 2008

Scientific Experts

Detail Information

Publications102 found, 100 shown here

  1. ncbi Polymorphisms of 5,10-methylenetetrahydrofolate reductase (MTHFR C677T) and thymidylate synthase enhancer region (TSER) as a risk factor of cholangiocarcinoma in a Korean population
    Kwang Hyun Ko
    Department of Internal Medicine, College of Medicine, Pochon CHA University, Seongnam, South Korea
    Anticancer Res 26:4229-33. 2006
    5,10-Methylenetetrahydrofolate reductase (MTHFR), a key enzyme in folate metabolism, plays a major role in the provision of methyl groups for DNA methylation; thymidylate synthase (TS) is a rate-limiting enzyme in the synthesis of dTMP ..
  2. ncbi Sudden hearing loss and MTHFR 677C>T/1298A>C gene polymorphisms
    P Capaccio
    Clinica Otorinolaringoiatrica, Azienda Ospedaliera L Sacco Polo Universitario Vialba, Ospedale Maggiore IRCCS, Milan, Italy
    Genet Med 7:206-8. 2005
    ..We aimed to investigate the relationship between SHL and MTHFR 677 and 1298 gene polymorphisms.
  3. ncbi C677T variant in the methylentetrahydrofolate reductase gene is a genetic risk factor for primary open-angle glaucoma
    Anselm G M Jünemann
    Department of Ophthalmology, Friedrich Alexander University of Erlangen Nuremberg, Erlangen, Germany
    Am J Ophthalmol 139:721-3. 2005
    To estimate the prevalence of C677T single nucleotide polymorphism in the 5,10-methylentetrahydrofolate reductase (MTHFR) gene in primary open-angle glaucoma (POAG) and pseudoexfoliation open-angle glaucoma (PEXG).
  4. ncbi MTHFR C677T and A1298C polymorphisms are risk factors for Down's syndrome in Indian mothers
    Amit Kumar Rai
    Cytogenetics Laboratory, Department of Zoology, Banaras Hindu University, 221005, Varanasi, India
    J Hum Genet 51:278-83. 2006
    ..Two common polymorphisms (SNPs), C677T and A1298C, in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene involved in folate metabolism, are known to lower the activity of this enzyme...
  5. ncbi MTHFR C677T and A1298C gene polymorphisms and hyperhomocysteinemia as risk factors of diabetic nephropathy in type 2 diabetes patients
    Nabil Mtiraoui
    Research Unit of Haematological and Autoimmune Diseases, Faculty of Pharmacy, Monastir, Center University, Tunisia
    Diabetes Res Clin Pract 75:99-106. 2007
    Point mutations in methylenetetrahydrofolate reductase (MTHFR) and hyperhomocysteinemia were implicated in the pathogenesis of diabetic nephropathy (DN) in many ethnic groups...
  6. ncbi Methylenetetrahydrofolate reductase genetic polymorphisms in patients with primary open-angle glaucoma
    Madeleine Zetterberg
    Institute of Neuroscience and Physiology, Department of Clinical Neuroscience and Rehabilitation, Section of Ophthalmology, The Sahlgrenska Academy at Goteborg University, Molndal, Sweden
    Ophthalmic Genet 28:47-50. 2007
    ..The purpose of the present study was to determine if hyperhomocysteinemia-associated polymorphisms of the methylenetetrahydrofolate reductase gene (MTHFR) are overrepresented in primary open-angle glaucoma.
  7. doi MTHFR gene polymorphism is susceptible to diabetic retinopathy but not to diabetic nephropathy in Japanese type 2 diabetic patients
    Makiko Maeda
    Department of Clinical Evaluation of Medicines and Therapeutics, Graduate School of Pharmaceutical Sciences, Osaka University, Osaka, Japan
    J Diabetes Complications 22:119-25. 2008
    Previously, we have proposed that methylenetetrahydrofolate reductase (MTHFR) gene polymorphism (C677T) could be a risk factor for diabetic retinopathy...
  8. doi Effect of the MTHFR C677T and A1298C polymorphisms on survival in patients with advanced CKD and ESRD: a prospective study
    Rex L Jamison
    Veterans Affairs Palo Alto Health Care System, Palo Alto, CA 94304, USA
    Am J Kidney Dis 53:779-89. 2009
    Abnormalities in the gene regulating methylenetetrahydrofolate reductase (MTHFR) are associated with increased homocysteine levels and increased mortality in normal and chronic kidney disease (CKD) populations.
  9. ncbi The C677T methylenetetrahydrofolate reductase gene mutation and nephropathy in type 2 diabetes mellitus
    Piotr Ksiazek
    Laboratory for Molecular Diagnostics of Multifactorial Diseases, Department of Nephrology, University Medical School, Jaczewskiego 8, 20 954 Lublin, Poland
    Med Sci Monit 10:BR47-51. 2004
    ..Mutations of the methylenetetrahydrofolate reductase (MTHFR) gene have been shown to be associated with a predisposition to diabetic nephropathy in some ..
  10. ncbi Synergistic effects of prothrombotic polymorphisms and atherogenic factors on the risk of myocardial infarction in young males
    A Inbal
    Institute of Thrombosis and Hemostasis, Department of Hematology, Chaim Sheba Medical Center, Tel Hashomer, Israel
    Blood 93:2186-90. 1999
    Several recent studies evaluated a possible effect of the prothrombotic polymorphisms such as 5,10 methylenetetrahydrofolate reductase (MTHFR) nt 677C --> T, factor V (F V) nt 1691G --> A (F V Leiden), and factor II (F II) nt 20210 ..
  11. ncbi C677T substitution in the methylenetetrahydrofolate reductase gene as a risk factor for venous thrombosis and arterial disease in selected patients
    D Gemmati
    Center for the Study of Hemostasis and Thrombosis, University of Ferrara, C so Giovecca 203, 44100 Ferrara, Italy
    Haematologica 84:824-8. 1999
    ..Individuals with the thermolabile variant of methylenetetrahydrofolate reductase (MTHFR), due to homozygous C677T MTHFR gene mutation, have significantly raised plasma levels of ..
  12. ncbi Association between 5,10-methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and conotruncal heart defects
    Simona Storti
    Molecular Cardiology Laboratory, IFC CNR G Pasquinucci Hospital, Massa, Italy
    Clin Chem Lab Med 41:276-80. 2003
    Reports related some polymorphisms of the 5,10-methylenetetrahydrofolate reductase (MTHFR) to folate-dependent neural tube defects...
  13. ncbi Homocysteine, methylenetetrahydrofolate reductase and risk of schizophrenia: a meta-analysis
    J W Muntjewerff
    GGz Nijmegen, Mental Health Institute Nijmegen, Nijmegen, and Department of Psychiatry, University Medical Center, Utrecht, The Netherlands
    Mol Psychiatry 11:143-9. 2006
    ..studied genetic variant in the homocysteine metabolism is the 677C>T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene, resulting in reduced enzyme activity and, subsequently, in elevated homocysteine...
  14. ncbi Methylenetetrahydrofolate reductase polymorphism and minor increase of risk for oral cancer
    E Vairaktaris
    Department of Maxillofacial Surgery, University of Athens Medical School, Athens, Greece
    J Cancer Res Clin Oncol 132:219-22. 2006
    We investigated whether the mutant methylenetetrahydrofolate reductase (MTHFR) increases risk for oral cancer...
  15. ncbi MTHFR 677CC/1298CC genotypes are highly associated with chronic myelogenous leukemia: a case-control study in Korea
    Hee Won Moon
    Department of Laboratory Medicine, Ewha Womans University College of Medicine, Seoul, South Korea
    Leuk Res 31:1213-7. 2007
    b>Methylenetetrahydrofolate reductase (MTHFR) is an enzyme involved in folate metabolism and DNA methylation...
  16. ncbi Low vitamin B6, and not plasma homocysteine concentration, as risk factor for abdominal aortic aneurysm: a retrospective case-control study
    Anita C Peeters
    Department of Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Vasc Surg 45:701-5. 2007
    ....
  17. doi Thrombophilic risk factors in the pathogenesis of non-arteritic anterior ischemic optic neuropathy patients
    Taxiarchis Felekis
    University Eye Clinic of Ioannina, Kosti Palama 1, Anatoli, Ioannina, 45500, Greece
    Graefes Arch Clin Exp Ophthalmol 248:877-84. 2010
    ..Thrombophilia is the tendency/predisposition to vascular thromboses of arteries and veins, and the existence of thrombophilic risk factors leads to blood hypercoagulability and potentially increased risk for thromboses...
  18. doi Analysis of thrombophilic genetic mutations in patients with Sheehan's syndrome: is thrombophilia responsible for the pathogenesis of Sheehan's syndrome?
    Deniz Gokalp
    Department of Endocrinology, Dicle University School of Medicine, Diyarbakir, Turkey
    Pituitary 14:168-73. 2011
    The gene mutations of Factor V R506Q (FV-Leiden), prothrombin (FII G20210A), methylene tetrahydrofolate reductase (MTHFR) C677T and A1298C and PAI-1 4G/5G are well-established risk factors for thrombosis...
  19. doi The thermolabile variant of 5,10-methylenetetrahydrofolate reductase is a possible risk factor for amyotrophic lateral sclerosis
    Peter Kühnlein
    Department of Neurology, University of Ulm, Germany
    Amyotroph Lateral Scler 12:136-9. 2011
    ..205) and gender (χ(2) = 2.48, p = 0.115) using binary regression analysis. Results showed that the variant MTHFR c.677C>T was significantly associated with ALS, i.e. the T-allele was more frequent among patients...
  20. doi Methylenetetrahydrofolate reductase (MTHFR) gene C677T, A1298C and G1793A polymorphisms: association with risk for clear cell renal cell carcinoma and tumour behaviour in men
    M R Safarinejad
    Private Practice of Urology and Andrology, Tehran, Iran
    Clin Oncol (R Coll Radiol) 24:269-81. 2012
    b>Methylenetetrahydrofolate reductase (MTHFR) plays a crucial role in regulating folate metabolism, which affects DNA synthesis and methylation...
  21. doi Methylenetetrahydrofolate reductase gene polymorphisms in Turkish children with attention-deficit/hyperactivity disorder
    Emel Ergul
    Department of Medical Biology and Genetics, Faculty of Medicine, University of Kocaeli, Umuttepe, Kocaeli, Turkey
    Genet Test Mol Biomarkers 16:67-9. 2012
    ..The aim of the present study was to evaluate a possible association between 5,10-methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and ADHD...
  22. pmc Methylenetetrahydrofolate reductase gene polymorphisms in children with attention deficit hyperactivity disorder
    Cem Gokcen
    Department of Child and Adolescent Psychiatry, Medicine Faculty of Gaziantep University, Gaziantep, Turkey
    Int J Med Sci 8:523-8. 2011
    The purpose of this study was to evaluate the relationship between 5,10- methylenetetrahydrofolate reductase (MTHFR) polymorphisms and Attention Deficit Hyperactivity Disorder (ADHD) in a sample of Turkish children.
  23. doi The role of MTHFR and RFC1 polymorphisms on toxicity and outcome of adult patients with hematological malignancies treated with high-dose methotrexate followed by leucovorin rescue
    Patrizia Chiusolo
    Department of Hematology, Universita Cattolica del Sacro Cuore, Largo A Gemelli 8, 00168, Rome, Italy
    Cancer Chemother Pharmacol 69:691-6. 2012
    ..This study aims to evaluate the role of MTHFR C677T and A1298C polymorphisms and G80A reduced folate carrier gene (RFC1) in a cohort of adult patients with ..
  24. pmc Trafficking of intracellular folates
    Patrick J Stover
    Cornell University, Division of Nutritional Sciences, Ithaca, NY 14850, USA
    Adv Nutr 2:325-31. 2011
    ....
  25. doi Effect of prothrombotic mutations on factor consumption in children with hemophilia
    Hamit Tüten
    Pediatric Intensive Care Unit, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey
    Clin Appl Thromb Hemost 19:445-8. 2013
    ..In hemophilia A, factor activity usually correlates with clinical severity; however, there are patients with severe hemophilia who have bleeding less than expected...
  26. doi Methylenetetrahydrofolate reductase C677T and reduced folate carrier 80 G>A polymorphisms are associated with an increased risk of conotruncal heart defects
    Dingxu Gong
    State Key Laboratory of Cardiovascular Disease, Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Science, Peking Union Medical College, Beijing, PR China
    Clin Chem Lab Med 50:1455-61. 2012
    ..Folic acid has an important role during embryologic development, particularly the development of the cardiovascular system...
  27. doi Plasminogen activator inhibitor 1 and methylenetetrahydrofolate reductase gene mutations in iranian women with polycystic ovary syndrome
    Farah Idali
    Reproductive Immunology Research Center, Avicenna Research Institute, Tehran, Iran
    Am J Reprod Immunol 68:400-7. 2012
    ..Mutations in genes related to thrombophilia and hypofibrinolysis have been associated with recurrent pregnancy loss (RPL) and polycystic ovary syndrome (PCOS)...
  28. doi Genetic polymorphisms associated with retinal vein occlusion: a Greek case-control study and meta-analysis
    Georgia G Yioti
    Department of Ophthalmology, University of Ioannina School of Medicine, Ioannina, Greece
    Ophthalmic Genet 34:130-9. 2013
    ..In the current study, we aimed to replicate polymorphisms related to thrombophilia/hypofibrinolysis in a Greek population and also systematically summarize current evidence available on the topic...
  29. ncbi [Relationship between the methylenetetrahydrofolate reductase gene polymorphism and adverse reactions of high-dose methotrexate in children with acute lymphocytic leukemia]
    Miao miao Zheng
    Shenzhen Children s Hospital, Zunyi Medical College, Shenzhen, Guangdong, China
    Zhongguo Dang Dai Er Ke Za Zhi 15:201-6. 2013
    To study the association between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and toxicities after high-dose methotrexate (HD-MTX) infusion in children with acute lymphocytic leukemia (ALL).
  30. pmc Methylenetetrahydrofolate reductase C677T mutation and risk of retinal vein thrombosis
    Mohammad Soleiman Soltanpour
    Department of Laboratory Sciences, School of Paramedical Sciences, Zanjan University of Medical Sciences, Zanjan, Iran
    J Res Med Sci 18:487-91. 2013
    ..Homozygosity for the methylenetetrahydrofolate reductase (MTHFR) C677T mutation has been associated with elevated plasma Hcy concentration and may ..
  31. ncbi Retinal vein occlusion associated with methylenetetrahydrofolate reductase mutation
    A Loewenstein
    Department of Ophthalmology, Tel Aviv Sourasky Medical Center, Israel
    Ophthalmology 106:1817-20. 1999
    To report on the occurrence of methylenetetrahydrofolate reductase (MTHFR) deficiency in patients with retinal vein occlusion (RVO).
  32. pmc 5,10-Methylenetetrahydrofolate reductase C677T gene polymorphism in Behcet's patients with or without ocular involvement
    Y Ozkul
    Sivas Cad Cebeci Apt A Blok, 175 15, TR 38020, Kayseri, Turkey
    Br J Ophthalmol 89:1634-7. 2005
    ..Indeed, a mutation in the 5,10-methylenetetrahydrofolate reductase (MTHFR C677T) gene influences Hcy metabolism and, therefore, MTHFR C677T polymorphism provokes ..
  33. ncbi Methylenetetrahydrofolate reductase genetic polymorphisms in patients with cataract
    Madeleine Zetterberg
    Institute of Clinical Neuroscience, Section of Ophthalmology, Sahlgrenska University Hospital, Goteborg University, Molndal, Sweden
    Am J Ophthalmol 140:932-4. 2005
    Hyperhomocysteinemia is commonly associated with polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene. The level of homocysteine can be lowered by dietary intake of folate...
  34. ncbi MTHFR C677T mutation in central retinal vein occlusion: a case-control study in Chinese population
    Wei Gao
    Department of Ophthalmology, Xijing Hospital, Fourth Military Medical University, Xi an, 710032, China
    Thromb Res 121:699-703. 2008
    ..The aim of this study is to determine whether MTHFR C677T mutation is an independent risk factor for CRVO in the Chinese population...
  35. doi Complete deficiency of methylenetetrahydrofolate reductase in mice is associated with impaired retinal function and variable mortality, hematological profiles, and reproductive outcomes
    Andrea K Lawrance
    Departments of Human Genetics, Pediatrics, and Biology, McGill University Montreal Children s Hospital Research Institute, Montreal, H3Z 2Z3, Canada
    J Inherit Metab Dis 34:147-57. 2011
    Severe deficiency of methylenetetrahydrofolate reductase (MTHFR) with homocystinuria can result in early demise or later-onset neurological impairment, including developmental delay, motor dysfunction, and seizures...
  36. doi Association study between methylenetetrahydrofolate reductase gene polymorphisms and Graves' disease
    Renfang Mao
    Harbin Medical University, Harbin, China
    Cell Biochem Funct 28:585-90. 2010
    5,10-Methylenetetrahydrofolate reductase (MTHFR) catalyzes the metabolism of folate and nucleotides, which are essential for DNA synthesis and methylation...
  37. pmc Hearing impairment risk and interaction of folate metabolism related gene polymorphisms in an aging study
    Yasue Uchida
    Department of Otorhinolaryngology, National Center for Geriatrics and Gerontology, 35 Gengo, Morioka, Obu City, Aichi Prefecture 474 8511, Japan
    BMC Med Genet 12:35. 2011
    ..The aim of this study is to investigate the effects of the methionine synthase (MTR) A2756G and methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphisms on the risk of hearing impairment in middle-aged and elderly ..
  38. pmc Methylenetetrahydrofolate reductase gene variant (MTHFR C677T) and migraine: a case control study and meta-analysis
    Zainab Samaan
    Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, ON, Canada
    BMC Neurol 11:66. 2011
    ..While a functional polymorphism in methyleneterahydrofolate reductase gene (MTHFR C677T) has been implicated in depression; the evidence to support an association of MTHFR with migraine has been ..
  39. pmc Analysis of candidate genes for age-related macular degeneration subtypes in the Japanese population
    Koji Tanaka
    Department of Ophthalmology, Nihon University School of Medicine, Tokyo, Japan
    Mol Vis 17:2751-8. 2011
    ..We aimed to investigate the relationships between single nucleotide polymorphisms (SNPs) in candidate genes and subtypes of AMD in the Japanese population...
  40. doi Association between polymorphisms in genes encoding methylenetetrahydrofolate reductase and the risk of Ménière's disease
    Yang Huang
    Department of Otorhinolaryngology, Nagoya University Graduate School of Medicine, Nagoya 466 8550, Japan
    J Neurogenet 27:5-10. 2013
    ..The aim of this study was to investigate the effect of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms (C677T and A1298C) on the risk of MD in a Japanese population...
  41. doi IL-4 and MTHFR gene polymorphism in rheumatoid arthritis and their effects
    Ahmet Inanir
    Department of Physical Therapy and Rehabilitation, Faculty of Medicine, Gaziosmanpasa University, Tokat, 60100, Turkey
    Immunol Lett 152:104-8. 2013
    ..Polymorphic variations of the cytokine genes and MTHFR gene have received attention as potential markers of susceptibility, severity, and/or protection in RA...
  42. ncbi Folate-mediated incorporation of ring-2-carbon of histidine into nucleic acids: influence of thyroid hormone
    C P Nair
    Radiation Biology and Biochemistry Division, Bhabha Atomic Research Centre, Bombay, India
    Metabolism 43:1575-8. 1994
    ..5,10-Methylenetetrahydrofolate reductase levels are elevated in hyperthyroidism and decreased in hypothyroidism, whereas methionine synthase ..
  43. ncbi Effects of streptozotocin-induced diabetes and of insulin treatment on homocysteine metabolism in the rat
    R L Jacobs
    Department of Biochemistry, Memorial University of Newfoundland, St John s, Canada
    Diabetes 47:1967-70. 1998
    ..These results suggest that insulin is involved in the regulation of plasma homocysteine concentrations by affecting the hepatic transsulfuration pathway, which is involved in the catabolism of homocysteine...
  44. ncbi Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria
    S Sibani
    Department of Pediatrics, McGill University Health Centre, Montreal, Canada
    Hum Mutat 15:280-7. 2000
    Severe deficiency of methylenetetrahydrofolate reductase (MTHFR) is the most common inborn error of folate metabolism...
  45. ncbi 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review
    L D Botto
    Birth Defects and Pediatric Genetics Branch, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
    Am J Epidemiol 151:862-77. 2000
    The enzyme 5,10-methylenetetrahydrofolate reductase (MTHFR) is involved in folate metabolism. The MTHFR gene is located on chromosome 1 (1p36...
  46. ncbi The G1691 --> A mutation of factor V, but not the G20210 --> A mutation of factor II or the C677 --> T mutation of methylenetetrahydrofolate reductase genes, is associated with venous thrombosis in patients with lupus anticoagulants
    M Galli
    Divisione di Ematologia, Ospedali Riuniti di Bergamo Angelo Bianchi Bonomi Haemophilia and Thrombosis Centre, Institute of Internal Medicine and IRCCS, Maggiore Hospital, Milano, Italy
    Br J Haematol 108:865-70. 2000
    ..V, the G20210 --> A mutation in the prothrombin gene and the C677 --> T mutation in the methylenetetrahydrofolate reductase gene in 152 patients with lupus anticoagulants...
  47. ncbi MTHFR 677C-->T polymorphism and risk of coronary heart disease: a meta-analysis
    Mariska Klerk
    Division of Human Nutrition and Epidemiology, Wageningen University, PO Box 8129, 6700 EV Wageningen, The Netherlands
    JAMA 288:2023-31. 2002
    ..The MTHFR 677C-->T polymorphism is a genetic alteration in an enzyme involved in folate metabolism that causes elevated ..
  48. ncbi Cigarette smoke increases intimal hyperplasia and homocysteine in a rat carotid endarterectomy
    Joseph A Davis
    University of Arkansas for Medical Sciences, Central Arkansas Veterans Healthcare System, 4300 West 7th Street, Little Rock, AR 72205, USA
    J Surg Res 121:69-75. 2004
    ..Folic acid (FA) and the homocysteine metabolic enzymes MTHFR and CBS were used to test for the significance of homocysteine elevation.
  49. ncbi Homocysteine and stroke: evidence on a causal link from mendelian randomisation
    Juan P Casas
    Centre for Clinical Pharmacology, Department of Medicine, British Heart Foundation Laboratories, Royal Free and University College Medical School, University College London, Rayne Building, 5 University Street, London WC1E 6 JJ, UK
    Lancet 365:224-32. 2005
    Individuals homozygous for the T allele of the MTHFR C677T polymorphism have higher plasma homocysteine concentrations (the phenotype) than those with the CC genotype, which, if pathogenetic, should put them at increased risk of stroke...
  50. ncbi Mild neonatal hypoxia exacerbates the effects of vitamin-deficient diet on homocysteine metabolism in rats
    Sébastien Blaise
    INSERM U 724, Université H Poincaré, 54505 Vandoeuvre les Nancy, France
    Pediatr Res 57:777-82. 2005
    ..It could therefore potentiate the well-known adverse effects of hyperhomocysteinemia...
  51. pmc Methylenetetrahydrofolate reductase polymorphism 677C>T is associated with peripheral arterial disease in type 2 diabetes
    Rebecca L Pollex
    Robarts Research Institute, London, Ontario, Canada
    Cardiovasc Diabetol 4:17. 2005
    ..One putative determinant of PAD is the 677C>T polymorphism in the gene encoding methylenetetrahydrofolate reductase (MTHFR), which has previously been found to associate with various diabetic complications including ..
  52. ncbi Polymorphisms in one-carbon metabolism and trans-sulfuration pathway genes and susceptibility to bladder cancer
    Lee E Moore
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Rockville, MD, USA
    Int J Cancer 120:2452-8. 2007
    ..associations between bladder cancer risk and 33 single nucleotide polymorphisms (SNPs) in 8 genes (CBS, CTH, MTHFR, MTR, MTRR, SHMT1, SLC19A1 and TYMS) and interactions with dietary variables involved in this pathway...
  53. ncbi Association of methylenetetrahydrofolate reductase polymorphism and the risk of squamous cell carcinoma in renal transplant patients
    Mary E Laing
    Department of Dermatology, Beaumont Hospital, Dublin, Ireland
    Transplantation 84:113-6. 2007
    ..any skin cancer) were genotyped for key polymorphisms in the folate pathway (methylene tetrahydrofolate reductase; MTHFR:C677T), and the vitamin D pathway (vitamin D receptor: Intron8G/T;)...
  54. ncbi Genetic polymorphisms of methylenetetrahydrofolate reductase and promoter methylation of MGMT and FHIT genes in diffuse large B cell lymphoma risk in Middle East
    Abdul K Siraj
    Department of Human Cancer Genomic Research Centre, King Fahad National Center for Children s Cancer and Research, Riyadh, Saudi Arabia
    Ann Hematol 86:887-95. 2007
    Diffuse large B cell lymphoma (DLBCL) is one of the most common non-Hodgkin's lymphoma types. Methylenetetrahydrofolate reductase (MTHFR) balances the pool of folate coenzymes in one carbon metabolism of deoxyribonucleic acid (DNA) ..
  55. ncbi Folate metabolism genes, vegetable intake and renal cancer risk in central Europe
    Lee E Moore
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA
    Int J Cancer 122:1710-5. 2008
    ..metabolism genes (CBS: Ex9+33C > T (rs234706), Ex13 +41C > T (rs1801181), Ex18 -391 G > A (rs12613); MTHFR: A222V Ex5+79C > T (rs1801133), Ex8-62A > C (rs1801131); MTR: Ex26 20A > G (rs1805087), MTRR: Ex5+136 T &..
  56. doi Methylenetetrahydrofolate reductase and methionine synthase reductase gene polymorphisms and protection from microvascular complications in adolescents with type 1 diabetes
    Esko J Wiltshire
    Department of Paediatrics and Child Health, University of Otago Wellington, Wellington South, New Zealand
    Pediatr Diabetes 9:348-53. 2008
    ..We aimed to determine whether polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) genes are risk factors for early microvascular ..
  57. doi Association of drug metabolism gene polymorphisms with toxicities, graft-versus-host disease and survival after HLA-identical sibling hematopoietic stem cell transplantation for patients with leukemia
    V Rocha
    Department of Hematology and Bone Marrow Transplant Unit, University of Paris 7, Hopital Saint Louis, Paris, France
    Leukemia 23:545-56. 2009
    ..P450 cytochrome family (CYP2B6), glutathione-S-transferase family (GST), multidrug-resistance gene, methylenetetrahydrofolate reductase (MTHFR) and vitamin D receptor (VDR)...
  58. doi Methotrexate in pediatric osteosarcoma: response and toxicity in relation to genetic polymorphisms and dihydrofolate reductase and reduced folate carrier 1 expression
    Ana Patino-Garcia
    Laboratory of Pediatrics, University of Navarra University Clinic, Pamplona, Spain
    J Pediatr 154:688-93. 2009
    ..To determine the influence of the genotype and the level of expression of different enzymes involved in folate metabolism on the response to and toxicity of high-dose methotrexate treatment in pediatric osteosarcomas...
  59. doi The TT genotype of the C677T polymorphism in the methylentetrahydrofolate reductase as a risk factor in thrombotic microangiopathies: results from a pilot study
    Christoph Sucker
    Department of Hemostasis and Transfusion Medicine, Heinrich Heine University Medical Center, Dusseldorf, Germany
    Clin Appl Thromb Hemost 15:283-8. 2009
    In this study, we assessed the potential role of the TT genotype of the gene of the methylenetetrahydrofolate reductase for the manifestation of thrombotic microangiopathies, enrolling 40 affected patients (mean age [+/- standard ..
  60. doi Analysis of polymorphism in renin angiotensin system and other related genes in South Indian chronic kidney disease patients
    Kolandaswamy Anbazhagan
    Department of Biochemistry, School of Biological Sciences, Madurai Kamaraj University, Madurai, Tamil Nadu, India
    Clin Chim Acta 406:108-12. 2009
    ..In Indian population, studies in RAS and other renal specific gene polymorphisms in Chronic Kidney Disease (CKD) patients are scanty...
  61. doi Role of thrombotic risk factors in end-stage renal disease
    Gaurav Tripathi
    Department of Urology, CSSMU, Lucknow, Uttar Pradesh, India
    Clin Appl Thromb Hemost 16:132-40. 2010
    ..among factors of the coagulation cascade are factor V leiden mutation (FVL), prothrombin (PT), and methylenetetrahydrofolate reductase (MTHFR), reported for thrombotic complications...
  62. doi Polymorphisms in one-carbon metabolism pathway genes and risk for bladder cancer in a Tunisian population
    Kamel Rouissi
    Laboratory of Genetics, Immunology and Human Pathology, Faculty of Sciences of Tunis, El Mannar I, 2092 Tunis, Tunisia
    Cancer Genet Cytogenet 195:43-53. 2009
    ..We conducted a case-control study to examine the relationship between the methylenetetrahydrofolate reductase (MTHFR C677 T and MTHFR A1298C), methionine synthase (5-methyltetrahydrofolate-homocysteine ..
  63. doi Plasma total homocysteine levels and methylenetetrahydrofolate reductase gene polymorphism in patients with type 2 diabetes mellitus
    Anna L Soares
    Faculty of Pharmacy, Federal University of Minas Gerais, Belo Horizonte, Brazil
    Pathophysiol Haemost Thromb 36:275-81. 2008
    ..homocysteine levels may occur due to a number of factors including inherited gene polymorphism of methylenetetrahydrofolate reductase (MTHFR) C677T...
  64. doi Gender-specific association of methylenetetrahydrofolate reductase genotype and haplotype with the aggressiveness and prognosis of clear cell renal cell carcinoma in Japanese patients
    Shigeru Sakano
    Department of Urology, Graduate School of Medicine, Yamaguchi University, Ube, Japan
    BJU Int 106:424-30. 2010
    To determine if the two common polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene, C677T and A1298C, affect tumour aggressiveness or prognosis of clear cell renal cell carcinoma (CCRCC) in Japanese patients.
  65. ncbi Genetic polymorphisms of MTHFR and aberrant promoter hypermethylation of the RASSF1A gene in bladder cancer risk in a Chinese population
    D W Cai
    Department of Urology, Shengjing Hospital of China Medical University, Shenyang City, Liaoning Province, China
    J Int Med Res 37:1882-9. 2009
    ..b>Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in folate metabolism...
  66. pmc Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects
    Henk J Blom
    Metabolic Unit, Department of Clinical Chemistry, Institute for Cardiovascular Research ICaR VU, VU University Medical Centre, Amsterdam, The Netherlands
    J Inherit Metab Dis 34:75-81. 2011
    ..Finally, common diseases associated with elevated homocysteine are discussed with the focus on cardiovascular disease and neural tube defects...
  67. doi Genetic susceptibility of methylenetetrahydrofolate reductase (MTHFR) gene C677T, A1298C, and G1793A polymorphisms with risk for bladder transitional cell carcinoma in men
    Mohammad Reza Safarinejad
    Private Practice of Urology and Andrology, PO Box 19395 1849, Tehran, Iran
    Med Oncol 28:S398-412. 2011
    ..transitional cell carcinoma (TCC) cases and 316 controls to investigate the association between methylenetetrahydrofolate reductase (MTHFR) C677T, A1298G, and G1793A polymorphisms and bladder cancer susceptibility by polymerase ..
  68. doi Association of methylene tetrahydrofolate reductase C677T genotype with type 2 diabetes mellitus patients with and without renal complications
    Sireesha Movva
    Department of Genetics, Bhagwan Mahavir Hospital and Research Centre, Hyderabad, India
    Genet Test Mol Biomarkers 15:257-61. 2011
    ..of the world have given controversial results regarding the association of methylene tetrahydrofolate reductase (MTHFR) gene variation with T2DM and diabetic nephropathy (DN)...
  69. pmc Methylenetetrahydrofolate reductase (MTHFR) polymorphism A1298C (Glu429Ala) predicts decline in renal function over time in the African-American Study of Kidney Disease and Hypertension (AASK) Trial and Veterans Affairs Hypertension Cohort (VAHC)
    Maple M Fung
    Department of Medicine, University of California, San Diego, La Jolla, CA 92093, USA
    Nephrol Dial Transplant 27:197-205. 2012
    ..Mutations in the human methylenetetrahydrofolate reductase (MTHFR) gene have been associated with increased homocysteine levels and risks of CVD in various ..
  70. pmc Identification of a biomarker profile associated with resistance to neoadjuvant chemoradiation therapy in rectal cancer
    Julio Garcia-Aguilar
    Department of Surgery, City of Hope, Duarte, CA 91010, USA
    Ann Surg 254:486-92; discussion 492-3. 2011
    ..To identify a biomarker profile associated with tumor response to chemoradiation (CRT) in locally advanced rectal cancer...
  71. doi Update and new concepts in vitamin responsive disorders of folate transport and metabolism
    David Watkins
    The Hess B and Diane Finestone Laboratory in Memory of Jacob and Jenny Finestone, and Department of Human Genetics, McGill University Health Centre, 1650 Cedar Avenue, Room L3 319, Montreal, QC, Canada
    J Inherit Metab Dis 35:665-70. 2012
    ..SLC46A1); glutamate formiminotransferase deficiency, caused by mutations in the FTCD gene; methylenetetrahydrofolate reductase deficiency, caused by mutations in the MTHFR gene; and functional methionine synthase deficiency, ..
  72. doi Genetic polymorphisms and the risk of progressive renal failure in elderly Hungarian patients
    Marianna Zsom
    Szent Rókus Kórház Nephrológia Ambulancia, Baja, Hungary
    Hemodial Int 15:501-8. 2011
    ..function: endothelial constitutive nitric oxide synthase (ecNOS) T-786C, endothelin-1 G5727T, methylenetetrahydrofolate reductase (MTHFR) C677T, paraoxonase-1 Q192R and M55L, angiotensinogen M235T, angiotensin-converting enzyme (..
  73. ncbi MTHFR gene polymorphisms in bladder cancer in the Turkish population
    Muzeyyen Izmirli
    Department of Medical Biology, Faculty of Medicine, Bezmialem Vakif University, Istanbul, Turkey
    Asian Pac J Cancer Prev 12:1833-5. 2011
    ..The methylene tethrahydrofolate reductase (MTHFR) enzyme is folate related and association of bladder cancer and MTHFR gene...
  74. pmc Polymorphisms in 1-carbon metabolism, epigenetics and folate-related pathologies
    Patrick J Stover
    Division of Nutritional Sciences, Cornell University, Ithaca, NY 14853, USA
    J Nutrigenet Nutrigenomics 4:293-305. 2011
    ..This review focuses on the relationships among folate-mediated 1-carbon metabolism, chromatin methylation and human disease, and the role of gene-nutrient interactions in modifying epigenetic processes...
  75. doi MTHFR C677T, A1298C and ACE I/D polymorphisms as risk factors for diabetic nephropathy among type 2 diabetic patients
    Rizk El-Baz
    Genetics Unit, Mansoura University, Mansoura, Egypt
    J Renin Angiotensin Aldosterone Syst 13:472-7. 2012
    ..Genetic variations have been proposed to play a role in the susceptibility to diabetic nephropathy...
  76. pmc Genetic risk factors for thrombosis in systemic lupus erythematosus
    Rachel Kaiser
    UCSF Division of Rheumatology, San Francisco, CA 94143, USA
    J Rheumatol 39:1603-10. 2012
    ..Thrombosis is a serious complication of systemic lupus erythematosus (SLE). We investigated whether genetic variants implicated in thrombosis pathways are associated with thrombosis among 2 ethnically diverse SLE cohorts...
  77. doi MTHFR, MTR and MTRR polymorphisms and risk of chronic kidney disease in Japanese: cross-sectional data from the J-MICC Study
    Asahi Hishida
    Department of Preventive Medicine, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya, 466 8550, Japan
    Int Urol Nephrol 45:1613-20. 2013
    ..To clarify the associations of MTHFR, MTR, and MTRR polymorphisms with the risk of CKD in Japanese, we examined this association among Japanese ..
  78. ncbi The effect of riboflavin deficiency on methylenetetrahydrofolate reductase (NADPH) (EC 1.5.1.20) and folate metabolism in the rat
    C J Bates
    Dunn Nutritional Laboratory, Cambridge
    Br J Nutr 55:455-64. 1986
    ..or were pair-fed with the deficient animals. 2. The hepatic flavoenzyme, methylenetetrahydrofolate reductase (NADPH) (EC 1.5.1...
  79. ncbi Neural tube defects, vitamins and homocysteine
    T K Eskes
    Department of Obstetrics and Gynaecology, University Hospital Nijmegen, The Netherlands
    Eur J Pediatr 157:S139-41. 1998
    ..A subset of these women have hyperhomocysteinaemia and a mutation of the gene for thermolabile methylenetetrahydrofolate reductase (MTHFR)...
  80. ncbi Prevalence of methylenetetrahydrofolate reductase C677T and its association with arterial and venous thrombosis in the Chinese population
    Y Z Zheng
    Central Laboratory, Department of Neurology and Department of Cardiology, Xiang Ya Hospital, Hunan Medical University, Changsha 410008, PR China
    Br J Haematol 109:870-4. 2000
    ..A main genetic defect related to MHH is a C to T substitution at nucleotide 677 of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene...
  81. ncbi Assays of methylenetetrahydrofolate reductase and methionine synthase activities by monitoring 5-methyltetrahydrofolate and tetrahydrofolate using high-performance liquid chromatography with fluorescence detection
    L Huang
    Department of Food Science, Faculty of Agriculture, Gifu University, 1 1 Yanagido, Gifu 501 1193, Japan
    Anal Biochem 299:253-9. 2001
    We developed a method for assays of methylenetetrahydrofolate reductase and methionine synthase activities by monitoring their products of 5-methyltetrahydrofolate (5-CH(3)-H(4)folate) and tetrahydrofolate (H(4)folate) directly, using ..
  82. ncbi Methylenetetrahydrofolate reductase: a common human polymorphism and its biochemical implications
    Rowena G Matthews
    Biophysics Research Division, The University of Michigan, 930 N University Avenue, Ann Arbor, Michigan 48109 1055, USA
    Chem Rec 2:4-12. 2002
    ..This review presents biochemical studies of a human polymorphism in methylenetetrahydrofolate reductase, which catalyzes the reaction shown below...
  83. ncbi The common mutations C677T and A1298C in the human methylenetetrahydrofolate reductase gene are associated with hyperhomocysteinemia and cardiovascular disease in hemodialysis patients
    Y S Haviv
    Department of Nephrology and Hypertension, Hebrew University Hadassah Medical Center, Jerusalem, Israel
    Nephron 92:120-6. 2002
    ..While both renal failure and mutations of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene may result in hyperhomocysteinemia and CVD, the distinct roles of the thermolabile ..
  84. ncbi C677T mutation of methylenetetrahydrofolate reductase gene and serum homocysteine levels in Turkish patients with coronary artery disease
    Hulya Yilmaz
    Institute of Experimental Medical Research, Department of Molecular Medicine, Istanbul University, Istanbul, Turkey
    Cell Biochem Funct 24:87-90. 2006
    ..Elevated levels of homocysteine is a risk factor for coronary artery disease. The C677T transition in methylenetetrahydrofolate reductase (MTHFR) is associated with increased homocysteine levels in the general population...
  85. ncbi Thrombophilic risk factors in patients with severe carotid atherosclerosis
    R Marcucci
    Thrombosis Center, University of Florence, Dipartimento del Cuore e dei Vasi, Center for the Study at Molecular and Clinical Level of Chronic, Degenerative and Neoplastic Diseases to Develop Novel Therapies, Firenze, Italy
    J Thromb Haemost 3:502-7. 2005
    ..stenosis by evaluating a number of genetic and metabolic risk factors [factor (F)II G20210A, factor V Leiden, MTHFR C677T polymorphisms, anticardiolipin antibodies (aCL), lipoprotein(a) (Lp(a)), and homocysteine (Hcy)]...
  86. ncbi Hyperhomocysteinemia and the MTHFR C677T polymorphism promote steatosis and fibrosis in chronic hepatitis C patients
    Luigi E Adinolfi
    Division of Internal Medicine and Hepatology, Second University of Naples, Faculty of Medicine, Naples, Italy
    Hepatology 41:995-1003. 2005
    ..Hyperhomocysteinemia causes steatosis, and the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism induces hyperhomocysteinemia...
  87. ncbi [Study on the relations between genetic polymorphisms in methylenetetrahydrofolate reductase, methionine synthase and the risk of pancreatic cancer]
    Li Wang
    Department of Epidemiology, School of Basic Medicine, Peking Union Medical College, Beijing 100005, China
    Zhonghua Liu Xing Bing Xue Za Zhi 27:50-4. 2006
    To determine whether genetic polymorphisms in methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), methionine synthase (MS A2756G) were associated with the risks of pancreatic cancer.
  88. ncbi Endothelial cell dysfunction in women with cardiac syndrome X and MTHFR C677T mutation
    Sharon Alroy
    Department of Cardiovascular Medicine, Lady Davis Carmel Medical Center, Haifa, Israel
    Isr Med Assoc J 9:321-5. 2007
    ..Multiple factors are implicated in the pathophysiology, including elevated levels of homocysteine in the blood. Mutations in the MTHFR gene are associated with elevated levels of homocysteine.
  89. pmc Prognostic significance of folate metabolism polymorphisms for lung cancer
    A Matakidou
    Section of Cancer Genetics, Institute of Cancer Research, Brookes Lawley Building, Sutton, Surrey SM2 5NG, UK
    Br J Cancer 97:247-52. 2007
    ..influence lung cancer survival, we genotyped 14 nsSNPs mapping to methylene-tetrahydrofolate reductase (MTHFR), methionine synthase (MTR), methionine synthase reductase (MTRR); DNA methyltransferase (DNMT2), ..
  90. doi Cloning and expression of 5, 10-Methylenetetrahydrofolate reductase (MTHFR) gene
    G Chen
    Institute of Cardiovascular Research, Beijing Medical University, China
    Sci China C Life Sci 41:636-43. 1998
    ..One of the important factors causing hyperhomocysteinemia is decrease of 5,10-Methylenetetrahydrofolate reductase. Human and rat MTHFR cDNAs with RT-PCR were isolated, a prokaryodytic expression vector containing ..
  91. doi Alcohol drinking and one-carbon metabolism-related gene polymorphisms on pancreatic cancer risk
    Takeshi Suzuki
    Division of Epidemiology and Prevention, Aichi Cancer Center Research Institute, 1 1 Kanokoden, Chikusa ku, Nagoya 464 8681, Japan
    Cancer Epidemiol Biomarkers Prev 17:2742-7. 2008
    ..of alcohol on pancreatic cancer in conjunction with polymorphisms in one-carbon metabolism enzymes, methylenetetrahydrofolate reductase (MTHFR C677T), methionine synthase (MTR A2756G), methionine synthase reductase (MTRR A66G), and ..
  92. pmc Association of congenital cardiovascular malformations with 33 single nucleotide polymorphisms of selected cardiovascular disease-related genes
    Karen Kuehl
    Children s National Heart Institute, Washington, DC 20010, USA
    Birth Defects Res A Clin Mol Teratol 88:101-10. 2010
    ..Our hypothesis is that CCVMs may relate to genes that affect blood coagulation or flow. We studied whether polymorphisms of such genes are related to CCVMs; previous association of these SNPs to conotruncal CCVMs is described...

Research Grants8

  1. FASEB Summer Conference: Folate, B12 and 1C Metabolism
    PATRICK STOVER; Fiscal Year: 2004
    ..Similarly, the poster sessions also highlight the activities and needs of the younger participants. ..
  2. REGULATION OF FOLATE CATABOLISM
    PATRICK STOVER; Fiscal Year: 2007
    ..2). to determine the risk that folate catabolism contributes to folate-associated pathologies. (3). to establish relationships between catecholamines and folate metabolism. ..
  3. Folate-Genome Interactions in Colorectal Cancer
    PATRICK STOVER; Fiscal Year: 2007
    ..The long-term goal of this project is: (1). to determine the mechanism whereby alterations in folate metabolism influence cancer risk. ..
  4. Homeostatic Regulation of Folate Metabolism
    Patrick J Stover; Fiscal Year: 2010
    ..5. regulation of cSHMT by folate/choline preserves dTMP pools at the expense of AdoMet synthesis. The long-term goals of this project are: 1. to define homeostatic mechanisms used bv cells to regulate folate metabolism. ..
  5. ETIOLOGY OF STROKE IN CHILDREN WITH SICKLE CELL DISEASE
    Sherri Zimmerman; Fiscal Year: 2004
    ..presence of specific inherited thrombotic mutations, including mutations in the genes for Factor V, Factor VII, MTHFR, GPIIa, prothrombin and fibrinogen, using DNA analysis...
  6. Timing of Rectal Cancer Response to Chemoradiation
    Julio Garcia Aguilar; Fiscal Year: 2009
    ..This information will help develop molecular assays to diagnose pathologic complete response in transrectal biopsies of the tumor bed before removing the rectum. ..
  7. 14th International Congress on Flavins and Flavoproteins
    ROWENA MATTHEWS; Fiscal Year: 2002
    ..Tea will be served at each poster session. Presentations were selected by an International Organizing Committee with an eye to a diverse representation of speakers at the meeting. ..
  8. REGULATION OF FOLATE METABOLISM
    ROWENA MATTHEWS; Fiscal Year: 2008
    ..The third enzyme we will study is human methylenetetrahydrofolate reductase (MTHFR), which catalyzes the formation of methyltetrahydrofolate...