نتایج جستجو برای: c677t mutation

تعداد نتایج: 292722  

Background: Factor V Leiden, Prothrombin gene (G20210A) and MTHFR (C677T) polymorphism are the main biomarkers for evaluation of tendency for venous thromboembolism. We aimed to investigate the frequency of mutations in factor V Leiden, Prothrombin G20210A and MTHFR C677T and identify the genetic status for these mutations in patients with venous thrombosis. Methods: This study was carried out...

Journal: :iranian journal of otorhinolaryngology 0
shahin abdollahi-fakhim department of pediatric otorhinolaryngology, children’s hospital, tabriz university of medical sciences, tabriz, iran. mehrdad asghari estiar department of medical genetics, school of medicine, tehran university of medical sciences, tehran, iran. parizad varghaei faculty of medicine, tabriz university of medical sciences, tabriz, iran mahdi alizadeh sharafi tabriz genetic analysis center (tgac), tabriz university of medical sciences, tabriz, iran. masoud sakhinia faculty of medicine, university of liverpool, liverpool, united kingdom. ebrahim sakhinia tuberculosis and lung disease research center, tabriz university of medical sciences, tabriz, iran.

introduction: cleft lips and cleft palates are common congenital abnormalities in children. various chromosomal loci have been suggested to be responsible the development of these abnormalities. the present study was carried out to investigate the association between the suspected genes (methylenetetrahydrofolate reductase [mthfr] a1298c and c677t) that might contribute into the etiology of the...

2017
Lili Lu Wei Wang Li Li Xunlei Pang Sujuan Fei

It has been demonstrated that inflammatory bowel disease (IBD) patients had a higher risk of thromboembolism, numerous observational studies have reported the prevalence of MTHFR C677T mutation and G20210A prothrombin mutation in patients with IBD. Whereas the magnitude of association between these two inherited thrombophilic abnormalities and IBD remains unknown. We conduct a meta-analysis to ...

2013
Serbulent Yigit Nevin Karakus Ahmet Inanir

PURPOSE Diabetic peripheral neuropathy (DPN) is one of the most common diabetic chronic complications. Methylenetetrahydrofolate reductase (MTHFR) gene variants have been associated with vasculopathy that has been linked to diabetic neuropathy. The aim of the present study was to investigate the possible association between MTHFR gene C677T mutation and DPN and evaluate if there is an associati...

Introduction: Cleft lips and cleft palates are common congenital abnormalities in children. Various chromosomal loci have been suggested to be responsible the development of these abnormalities. The present study was carried out to investigate the association between the suspected genes (methylenetetrahydrofolate reductase [MTHFR] A1298C and C677T) that might contribute into the etiology of the...

Journal: :American journal of physiology. Heart and circulatory physiology 2007
E Zittan M Preis I Asmir A Cassel N Lindenfeld S Alroy D A Halon B S Lewis A Shiran J E Schliamser M Y Flugelman

The aim of this study was to examine the association of homozygosity for the methylenetetrahydrofolate reductase (MTHFR) C677T mutation and vitamin B12 deficiency in 360 asymptomatic individuals and to investigate forearm endothelial function in C677T homozygotes. MTHFR C677T mutation and levels of vitamin B12, folic acid, and homocysteine were measured in study participants. Frequency of homoz...

2012
Nevin Karakus Serbulent Yigit Goknur Kalkan Aydin Rustemoglu Ahmet Inanir Ulker Gul Gunseli Sefika Pancar Songul Akkanet Omer Ates

PURPOSE Behcet's disease (BD) is a multisystemic immunoinflammatory disorder characterized by mucocutaneous, ocular, vascular, and central nervous system manifestations. The common methylene tetrahydrofolate reductase (MTHFR) gene C677T mutation is a known risk factor for thrombosis. The aim of this study was to investigate the MTHFR gene C677 mutation in patients with BD and evaluate if there ...

Journal: :American journal of obstetrics and gynecology 2001
K D Wenstrom G L Johanning K E Johnston M DuBard

OBJECTIVE The aim of this study was determine whether the cytosine-to-thymine mutation at base 677 of the gene for methylenetetrahydrofolate reductase (C677T MTHFR ), which has been associated with neural tube defects, is also associated with congenital cardiac malformations. STUDY DESIGN Amniotic fluid homocysteine levels were measured and the presence or absence of the C677T MTHFR mutation ...

Journal: :The British journal of ophthalmology 2001
M Weger O Stanger H Deutschmann M Simon W Renner O Schmut J Semmelrock A Haas

BACKGROUND/AIMS Hyperhomocyst(e)inaemia has been identified as a strong risk factor for stroke, myocardial infarction, and deep vein thrombosis. A point mutation of methylene tetrahydrofolate reductase (MTHFR C677T) has been associated with increased plasma homocyst(e)ine levels. To investigate whether hyperhomocyst(e)inaemia and/or MTHFR C677T mutation are associated with non-arteritic ischaem...

Journal: :Genetika 2022

Introduction: Recurrent pregnancy loss (RPL) is defined as two or more consecutive which occurs before the 20th weeks of pregnancies for last menstrual period. Hereditary cause thrombophilic gene mutations and polymorphism may play an essential role in RPLs. Material Method: 291 women with a history abortions study group 61 without miscarriages control were included study. In this we analysed e...

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