نتایج جستجو برای: a1298c mutation

تعداد نتایج: 291881  

Journal: :Cancer Epidemiology Biomarkers & Prevention 2004

2009
Lucia Maria Procopciuc Gelu Osian Liviu Vlad Ileana Olteanu

Background: One of the mutated genes associated with a lower level of 5MTHF necessary for DNA methylation and possibly implicated in the carcinogenesis of sporadic colorectal cancer (CRC) is the gene encoding the methylenetetrahydrofolate reductase enzyme (MTHFR). Objectives: to investigate the frequency of the C667T and A1298C MTHFR variants in patients with sporadic CRC and controls; to estab...

2013
Sylene Coutinho Rampche de Carvalho Maria Tereza Cartaxo Muniz Maria Deozete Vieira Siqueira Erika Rabelo Forte Siqueira Adriana Vieira Gomes Karina Alves Silva Laís Carvalho Luma Bezerra Vânia D’Almeida Claudia Pinto Marques Souza de Oliveira Leila Maria M Beltrão Pereira

BACKGROUND Non-alcoholic fatty liver disease (NAFLD) is a chronic liver disease, which includes a spectrum of hepatic pathology such as simple steatosis, steatohepatitis, fibrosis and cirrhosis. The increased serum levels of homocysteine (Hcy) may be associated with hepatic fat accumulation. Genetic mutations in the folate route may only mildly impair Hcy metabolism. The aim of this study was t...

2001
Hongbing Shen Margaret R. Spitz Li-E Wang Waun K. Hong Qingyi Wei

Previous studies have suggested that low folate intake is associated with increased risk of lung cancer. Methylenetetrahydrofolate reductase (MTHFR) is one of the enzymes involved in folate metabolism and is thought to influence DNA methylation and nucleotide synthesis. MTHFR is highly polymorphic, and the variant genotypes result in decreased MTHFR enzyme activity and lower plasma folate level...

Journal: :Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2001
H Shen M R Spitz L E Wang W K Hong Q Wei

Previous studies have suggested that low folate intake is associated with increased risk of lung cancer. Methylene-tetrahydrofolate reductase (MTHFR) is one of the enzymes involved in folate metabolism and is thought to influence DNA methylation and nucleotide synthesis. MTHFR is highly polymorphic, and the variant genotypes result in decreased MTHFR enzyme activity and lower plasma folate leve...

2013
Xue Qin Qiliu Peng Zhiping Chen Yan Deng Shan Huang Juanjuan Xu Haiwei Li Shan Li Jinmin Zhao

BACKGROUND The association between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and hepatocellular carcinoma (HCC) risk was inconsistent and underpowered. To clarify the effects of MTHFR gene polymorphisms on the risk of HCC, a meta-analysis of all available studies relating C677T and/or A1298C polymorphisms of MTHFR gene to the risk of HCC was conducted. METHODS The authors...

Journal: :Clinical chemistry 2004
Cathal McCarthy Fergus Ryan Joseph Vaughan

To the Editor: We would like to thank Drs. Allen and Chiafari for their comments. They reiterate many of the points we made in our report (1 ). We are glad that they also had similar findings. However, they suggest that we differ in the detection of polymorphisms. In the Discussion section of our report (1 ), we speculated that our cutoff score might be too high because we observed that a polym...

2013
Kiran Turaka Matthew C. Ziemianski J. Shepard

C entral retinal vein occlusion (CRVO) in the young is also known as papillophlebitis and is a rare presentation.1 Retinal vein occlusion has been known to be associated with many systemic conditions.1,2 Association of hyperhomocysteinemia with retinal vein occlusion was reported in the literature.2-4 There was controversy, however, over whether there was correlation between methylenetetrahydro...

ژورنال: :مجله سازمان نظام پزشکی جمهوری اسلامی ایران 0

زمینه: یکی از فاکتورهای مطرح در ایجاد ترومبوفیلی در زنان مبتلابه سقط مکرر، پلی مورفیسم های a1298c و c677t در ژن mthfr است. هدف از این تحقیق بررسی ارتباط این دو پلی مورفیسم باسندرم سقط مکرر به عنوان یکی از ریسک فاکتورهای ژنتیکی برای این سندرم بود.روش کار: 30 زن با سابقه سقط مکرر خودبه خودی باعلت نامشخص به عنوان گروه بیماران و 10 زن بدون سابقه سقط مکرر و دارای حداقل دو باروری موفق، به عنوان گروه ...

Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 2004
Kim Robien Cornelia M Ulrich Jeannette Bigler Yutaka Yasui Ted Gooley Barbara Bruemmer John D Potter Jerald P Radich

PURPOSE Methylenetetrahydrofolate reductase (MTHFR) directs intracellular folate toward homocysteine metabolism and away from nucleotide synthesis. Two common MTHFR polymorphisms, C677T and A1298C, are associated with reduced enzyme activity. We evaluated the association of these polymorphisms with risk of relapse and bcr-abl mRNA transcript detection among 336 Caucasian patients who underwent ...

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