نتایج جستجو برای: a1298c mutation

تعداد نتایج: 291881  

Fatemeh Keify, Mohammad Reza Abbaszadegan, Mohsen Azimi-Nezhad, Mojila Nasseri, Narges Zhiyan-abed,

Background: Thrombophilia is a main predisposition to thrombosis due to a procoagulant state. Several point mutations play key roles in blood-clotting disorders, which are grouped under the term thrombophilia. These thrombophilic mutations are methylenetetrahydrofolate reductase (MTHFR, C677T, and A1298C), factor V Leiden (G1691A), prothrombin gene mutation (factor II, G20210A), and plasminogen...

Journal: :Cell biochemistry and function 2008
Ali Sazci Emel Ergul Cem Aygun Gurler Akpinar Omer Senturk Sadettin Hulagu

Nonalcoholic fatty liver disease (NAFLD) is the most common cause of abnormal hepatic steatosis in the absence of a history of alcohol use. Nonalcoholic steatohepatitis (NASH) is the progressive form of NAFLD. Hyperhomocysteinemia causes steatosis, and the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms result in hyperhomocysteinemia. To examine whether the C677T and ...

2017
Meral Ekim Hasan Ekim

Objectives. Coronary artery disease (CAD) is the leading cause of mortality in the world. It is a complex disorder resulting from the interaction between environmental risk factors and hereditary predisposition. The role of the factor V Leiden (FVL), protrombin gene (PT G20210A) and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms in the development of CAD is controversial. In th...

Journal: :Allergologia et immunopathologia 2015
M Dogru H Aydin A Aktas A A Cırık

BACKGROUND Methylenetetrahydrofolate Reductase (MTHFR) polymorphisms by impairing folate metabolism may influence the development of allergic diseases. The results of studies evaluating the relationship between MTHFR polymorphisms and atopic disease are controversial. The aim of this study was to investigate the association between the polymorphisms of C677T and A1298C for MTHFR gene and allerg...

2014
V Rai

Methylenetetrahydrofolate reductase (MTHFR) enzyme is essential for DNA synthesis and DNA methylation, and its gene polymorphisms have been implicated as risk factors for birth defects, neurological disorders, and different types of cancers. Several studies have investigated the association between the MTHFR A1298C polymorphism and breast cancer (BC) risk, but the results were inconclusive. To ...

2016
Guanghui Xu Xingcheng Dong Zhenhuan Li Jian Zhang Xiaodong Liu Lianshun Jia

Purpose: This study was aimed to detect the association between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms (C677T and A1298C) and ankylosing spondylitis (AS) risk. Methods: With matched age and gender, 113 AS patients and 120 healthy controls were recruited in this case-control study. Polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) were adopted...

2014
Jing He Xiao-Yu Liao Jin-Hong Zhu Wen-Qiong Xue Guo-Ping Shen Shao-Yi Huang Wei Chen Wei-Hua Jia

Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme involved in folate metabolism and DNA synthesis. A number of studies have examined the association of MTHFR C677T and A1298C polymorphisms with non-Hodgkin lymphoma (NHL) susceptibility; however, the conclusions were contradictory. We searched available publications assessing the polymorphisms of MTHFR and NHL susceptibility fro...

Journal: :Genetics and molecular research : GMR 2015
Q-Q Lv J Lu H Sun J-S Zhang

The association between the MTHFR genetic polymorphism and ischemic stroke has been reported by a number of investigators. However, the results have been controversial and conflicting. The aim of this study was to explore the association between the MTHFR variants C677T and A1298C and the risk of ischemic stroke in an Eastern Chinese Han population. A total of 199 patients with ischemic stroke ...

Journal: :Journal of medicine and palliative care 2022

Aim: To compare the D-Dimer levels in patients with mild COVID-19 disease and without hereditary thrombophilia.
 Material Method: Factor V Leiden (G1691A) mutation, methylene tetrahydrofolate gene mutation (C677T, A1298C), PAI-1 (4G-5G) FXIII (V34L) mutations were examined all included study for various reasons such as recurrent miscarriage venous embolism. Patients any thrombophilia group...

Journal: :American journal of medical genetics. Part A 2004
Ana Claudia M Aléssio Joyce M Annichino-Bizzacchi Sergio P Bydlowski Marcos N Eberlin Adriana P Vellasco Nelci Fenalti Höehr

Hyperhomocysteinemia is a risk factor for thrombosis, and methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) polymorphisms, folate, and B12 levels could contribute to plasma homocysteine (Hcy) variation. Although well established in adults, few studies have been performed in childhood. In this study, we investigated association of polymorphisms C677T and A1298C...

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