نتایج جستجو برای: methylenetetrahydrofolate reductase deficiency

تعداد نتایج: 180150  

Journal: :The Biochemical journal 1976
H A Krebs R Hems B Tyler

1. The isolated perfused rat liver and suspensions of isolated rat hepatocytes fail to form glucose from histidine, in contrast with the liver in vivo. Both rat liver preparations readily metabolize histidine. The main end product is N-formiminoglutamate. In this respect the liver preparations behave like the liver of cobalamin- or folate-deficient mammals. 2. Additions of L-methionine in physi...

2013
Shang Gao Li-Hong Ding Jian-Wei Wang Cun-Bao Li Zhao-Yang Wang

Gastric cancer is one of the most common malignant diseases worldwide, which is a disease of multiple etiologic factors involving infectious, dietary, environmental and genetic factors (IRAC, 2008). Helicobacter pylori (H. pylori) infection has been proved to be associated with gastric cancer and duodenal ulcer (Taylor and Blaser, 1991; Munoz, 1994). Folate is a water-soluble vitamin naturally ...

Journal: :American journal of epidemiology 2003
Kim Robien Cornelia M Ulrich

Leukemias commonly arise as a result of DNA translocations, inversions, or deletions in genes regulating blood cell development or homeostasis. Folate deficiency has been associated with uracil misincorporation into DNA and DNA double strand breaks during uracil excision repair, thus increasing the risk of chromosomal aberrations. Methylenetetrahydrofolate reductase (MTHFR) directs 5,10-methyle...

Journal: :JAMA neurology 2014
Eugene F Diekman Tom J de Koning Nanda M Verhoeven-Duif Maroeska M Rovers Peter M van Hasselt

IMPORTANCE The impact of betaine treatment on outcome in patients with severe methylenetetrahydrofolate reductase (MTHFR) deficiency is presently unclear. OBJECTIVE To investigate the effect of betaine treatment on development and survival in patients with severe MTHFR deficiency. DATA SOURCES MEDLINE, EMBASE, and Cochrane databases between January 1960 and December 2012. STUDY SELECTION ...

2017
Roya S. Nazarian Angela J. Lamb

DHFR: dihydrofolate reductase MTHFR: methylenetetrahydrofolate reductase INTRODUCTION Psoriasis is a chronic disease that causes erythematous patches with silver plaques and scales, often drastically affecting the quality of life of those afflicted by this disease. Psoriasis is a hyperproliferative disease, which is thought to be the result of a dysregulated immune system, specifically overacti...

Journal: :Saudi medical journal 2006
S Cansun Demir Cuneyt Evruke Tuncay Ozgunen Oktay Kadayifci Umit Altintas Sehim Kokangul

OBJECTIVE To investigate the relationship between some thrombophilic parameters and pregnancy induced hypertension (PIH). METHODS The study took place at the Department of Obstetrics and Gynecology, Perinatology Unit, Faculty of Medicine, Cukurova University, Turkey, between January 2002 and December 2002. We evaluated 202 patients. Patients were divided into 2 groups: control group comprised...

Journal: :Journal of medical genetics 1997
S Sohda T Arinami H Hamada N Yamada H Hamaguchi T Kubo

A common missense mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, a C to T substitution at nucleotide 677, is responsible for reduced MTHFR activity and associated with modestly increased plasma homocysteine concentrations. Since underlying maternal vascular disease increases the risk of pre-eclampsia, we had the working hypothesis that pre-eclampsia patients would have an inc...

Journal: :Clinica chimica acta; international journal of clinical chemistry 2005
Jacques Simpore Andrea Angius Ivana Persico Alessandro Sassu Dionigio Antonio Prodi Salvatore Musumeci

In Burkina Faso, the levels of plasma homocysteine (Hcy) are lower and the methionine loading tests suggest a more effective Hcy metabolism [1,2]. We found a relevant difference in the allele frequencies of C677T: T 7.7% in the young and 3.3% in old subjects respectively (see Table 1). Frequencies of C677T genotypes in old and young individuals were in Hardy Weinberg equilibrium (HWE). The diff...

Journal: :Circulation 1997
F M van Bockxmeer C D Mamotte S D Vasikaran R R Taylor

BACKGROUND Hypermocysteinemia has been substantiated as a risk factor for occlusive vascular disease. A common mutation (nucleotide 677 C-->T) has been described recently in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, which results in a valine for alanine substitution, a thermolabile enzyme, and a tendency to elevate plasma homocysteine levels and which has been proposed to contr...

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