نتایج جستجو برای: methylenetetrahydrofolate

تعداد نتایج: 3961  

Journal: :Molecular human reproduction 2005
Anne Parle-McDermott Faith Pangilinan James L Mills Caroline C Signore Anne M Molloy Amanda Cotter Mary Conley Christopher Cox Peadar N Kirke John M Scott Lawrence C Brody

Low maternal folate or vitamin B12 status has been implicated in numerous pregnancy complications including spontaneous abortion. The primary aim of this study was to test a polymorphism within the trifunctional folate enzyme MTHFD1 (5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase, 10-formyltetrahydrofolate synthetase) for an association with a mother'...

2012
Siaw C Liew Esha Das-Gupta Shew F Wong Nagarajah Lee Najeeb Safdar Adawiyah Jamil

BACKGROUND The methylenetetrahydrofolate reductase (MTHFR) enzyme catalyzes the reduction of 5, 10-methylenetetrahydrofolate to 5-methyltetrahydrofolate and methyl donors. The methyl donors are required for the conversion of homocysteine to methionine. Mutation of MTHFR 677 C > T disrupts its thermostability therefore leads to defective enzyme activities and dysregulation of homocysteine levels...

Journal: :Annals of oncology : official journal of the European Society for Medical Oncology 2002
P Chiusolo G Reddiconto I Casorelli L Laurenti F Sorà L Mele L Annino G Leone S Sica

BACKGROUND Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism, a common mutation of the gene encoding the enzyme that catalyzes reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a carbon donor in the metabolism of folate, determines a striking reduction in the enzyme activity in carriers of mutation at homozygous status. PATIENTS AND METHODS We retrospective...

Journal: :The European respiratory journal 2003
E Nizankowska-Mogilnicka L Adamek P Grzanka T B Domagala M Sanak M Krzanowski A Szczeklik

Frequently an inherited predisposition to thrombosis remains clinically silent until an additional environmental factor intervenes. The present study aimed to assess distribution of inherited risk factors of venous thrombosis in patients with venous thromboembolism (VTE). The prevalences of factor V Leiden (FV Leiden), prothrombin factor II G20210A (FII G20210A), C677T and A1298C of methylenete...

Journal: :The Biochemical journal 1976
E A Cossins P Y Chan G Combepine

1. The concentrations of folate-dependent enzymes in Neurospora crassa Lindegren A wild type (FGSC no. 853), Ser-l mutant, strain H605a (FGSC no. 118), and for mutant, strain C-24 (FGSC no. 9), were compared during exponential growth on defined minimal media. Both mutants were partially lacking in serine hydroxymethyltransferase, but contained higher concentrations of 10-formyltetrahydrofolate ...

2012
Henry Cardona Serguei A. Castañeda Wálter Cardona Maya Leonor Alvarez Joaquín Gómez Jorge Gómez José Torres Luis Tobón Gabriel Bedoya Ángela P. Cadavid

Studies have shown an association between recurrent pregnancy loss and inherited thrombophilia in Caucasian populations, but there is insufficient knowledge concerning triethnic populations such as the Colombian. The aim of this study was to evaluate whether inherited thrombophilia is associated with recurrent pregnancy loss. Methods. We conducted a case-control study of 93 patients with recurr...

Journal: :Annals of the Academy of Medicine, Singapore 2011
Elsa Haniffah Mejia Mohamed Kay Sin Tan Johari Mohd Ali Zahurin Mohamed

INTRODUCTION The functional point mutation C677T in the methylenetetrahydrofolate reductase (MTHFR) gene, has been reported to contribute to hyperhomocysteinaemia which is a risk factor for atherothrombotic ischaemic strokes. This study evaluated the prevalence of the C677T polymorphism of the gene in Malaysian ischaemic stroke subjects of Malay, Chinese and Indian ethnicities, and its associat...

2005
Gert-Jan J Kaspers Godefridus J Peters Yaddanapudi Ravindranath Rob Pieters Robert de Jonge Jan H Hooijberg Bertrand D van Zelst Gerrit Jansen Christina H van Zantwijk R. de Jonge J. H. Hooijberg B. D. van Zelst G. Jansen C. H. van Zantwijk G.J.L Kaspers G. J. Peters Y. Ravindranath R. Pieters J. Lindemans

We studied whether common polymorphisms in genes involved in folate metabolism affect MTX sensitivity. Ex-vivo MTX sensitivity of lymphoblasts obtained from pediatric ALL patients (n=157) was determined by the in-situ thymidylate synthase inhibition assay after either continuous (21-h; TSI50,cont) or short-term (3-h; TSI50,short) MTX exposure. DNA was isolated from lymphoblasts obtained from cy...

2013
Desirée E.C. Smith Yvo M. Smulders An S. De Vriese Henk J. Blom

Objective Elevated plasma homocysteine (Hcy) concentrations have been correlated to a higher incidence of a wide range of disorders such as neural tube defects and cardiovascular disease. Whether plasma Hcy concentration (and changes therein) are an accurate reflection of intracellular concentrations (and changes) in organs like the liver is unknown. Methods Wistar rats were fed Hcy-increasing ...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2001
K Yamada Z Chen R Rozen R G Matthews

Methylenetetrahydrofolate reductase (MTHFR) catalyzes the conversion of methylenetetrahydrofolate to methyltetrahydrofolate, the major methyl donor for the conversion of homocysteine to methionine. Two common polymorphisms of the human enzyme have been identified: 677C>T, which leads to the substitution of Ala-222 by valine, and 1298A>C, which leads to the replacement of Glu-429 by alanine; the...

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