نتایج جستجو برای: methylenetetrahydrofolate reductase deficiency

تعداد نتایج: 180150  

1998
D. E. L. Wilcken Anatoly Langer Karin B. Michels Bernard A. Rosner JoAnn E. Manson Meir J. Stampfer Alexander M. Walker Walter C. Willett Charles H. Hennekens

authors and five references. They should not have tables or figures and should relate solely to an article published in Circulation within the preceding 12 weeks. Only some letters will be published. Authors of those selected for publication will receive prepublication proofs, and authors of the article cited in the letter will be invited to reply. Replies must be signed by all authors listed i...

Journal: :Journal of bacteriology 1998
J Blanco J J Coque J F Martin

In enterobacteria, the methyl group of methionine is donated by 5-methyltetrahydrofolate that is synthesized from N5,10-methylenetetrahydrofolate by the 5,10-methylenetetrahydrofolate reductase. The Streptomyces lividans metF gene, which encodes 5,10-methylenetetrahydrofolate reductase, has been cloned. It encodes a protein of 307 amino acids with a deduced molecular mass of 33,271 Da. S1 exonu...

Journal: :Circulation 1996
R Narang G Callaghan A W Haider G J Davies E G Tuddenham

authors and five references. They should not have tables or figures and should relate solely to an article published in Circulation within the preceding 12 weeks. Only some letters will be published. Authors of those selected for publication will receive prepublication proofs, and authors of the article cited in the letter will be invited to reply. Replies must be signed by all authors listed i...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2005
Kazuhiro Yamada John R Strahler Philip C Andrews Rowena G Matthews

Methylenetetrahydrofolate reductase (MTHFR) catalyzes the reduction of methylenetetrahydrofolate to methyltetrahydrofolate, the methyl donor for the conversion of homocysteine to methionine. Regulation of MTHFR activity is crucial for maintaining cellular concentrations of methionine and S-adenosylmethionine (AdoMet). Purified recombinant human MTHFR expressed in insect cells is multiply phosph...

Journal: :iranian journal of pediatric hematology and oncology 0
shima kazemzadeh department of laboratory hematology and blood banking, faculty of allied medicine, kerman university of medical sciences rezvan mohammadi pathology and stem cell research center, kerman university of medical sciences, kerman, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی کرمان (kerman university of medical sciences) fatemeh shadkam farokhi pathology and stem cell research center, kerman university of medical sciences, kerman, iranسازمان اصلی تایید شده: دانشگاه علوم پزشکی کرمان (kerman university of medical sciences) alireza shafiian school of veterinary medicine, shahid bahonar university of kerman, kerman, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی کرمان (kerman university of medical sciences) mohammad faranoush pediatric growth and development research center, endocrinology institute, iran university of medical science, tehran,سازمان اصلی تایید شده: دانشگاه علوم پزشکی کرمان (kerman university of medical sciences) alireza farsinejad pathology and stem cell research center, kerman university of medical sciences, kerman, iranسازمان اصلی تایید شده: دانشگاه علوم پزشکی ایران (iran university of medical sciences)

background: the most common polymorphisms identified in the methylenetetrahydrofolate reductase (mthfr) gene, c677t and a1298c lead to defective activity of this enzyme and increase the risk of venous and arterial thrombosis. there are limited investigations regarding the effects of thrombogenic polymorphisms on the clinical phenotypes of rare hereditary hemorrhagic disorders like glanzmann's t...

2015
M Cascella M Arcamone E Morelli D Viscardi V Russo S De Franciscis A Belli R Accardo D Caliendo E De Luca B Di Caprio F Di Sauro G Giannoni C Iermano M Maciariello M Marracino A Cuomo

The original version of this article [1] unfortunately contained a mistake. The presentation of the author names is incorrectly marked up and therefore it is presented incorrectly in the HTML version of this article. The corrected author list is given below: Cascella M, Arcamone M, Morelli E, Viscardi D, Russo V, De Franciscis S, Belli A, Accardo R, Caliendo D, De Luca E, Di Caprio B, Di Sauro ...

Journal: :Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2001
J W Crott S T Mashiyama B N Ames M Fenech

We performed a comprehensive study on the genotoxic and cytotoxic effects of in vitro folic acid deficiency on primary human lymphocytes. Lymphocytes were cultured in medium containing 12-120 nM folic acid for 9 days in a novel cytokinesis-block micronucleus (CBMN) assay system (n = 20). Besides identifying optimal folic acid concentrations for in vitro genomic stability, we tested the hypothes...

Journal: :American journal of human genetics 1996
L A Kluijtmans L P van den Heuvel G H Boers P Frosst E M Stevens B A van Oost M den Heijer F J Trijbels R Rozen H J Blom

Mild hyperhomocysteinemia is an established risk factor for cardiovascular disease. Genetic aberrations in the cystathionine beta-synthase (CBS) and methylenetetrahydrofolate reductase (MTHFR) genes may account for reduced enzyme activities and elevated plasma homocysteine levels. In 15 unrelated Dutch patients with homozygous CBS deficiency, we observed the 833T-->C (I278T) mutation in 50% of ...

2013
Susanne H. Kirsch Markus Herrmann

Folate deficiency has been linked to diverse clinical manifestations and despite the importance of accurate assessment of folate status, the best test for routine use is uncertain. Both serum and red cell folate assays are widely available in clinical laboratories; however, red cell folate is the more time-consuming and costly test. This review sought to evaluate whether the red cell assay demo...

Journal: :Clinical chemistry and laboratory medicine 2013
Christopher-John L Farrell Susanne H Kirsch Markus Herrmann

Folate deficiency has been linked to diverse clinical manifestations and despite the importance of accurate assessment of folate status, the best test for routine use is uncertain. Both serum and red cell folate assays are widely available in clinical laboratories; however, red cell folate is the more time-consuming and costly test. This review sought to evaluate whether the red cell assay demo...

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