نتایج جستجو برای: موتاسیون c677t

تعداد نتایج: 2294  

حق نژاددوشانلو فریبا, , خسروی پور گلاره, , دیفئو آنالیزا, , رضوانی حمید, , فراهانی کبری, , مارتیگتی جان, , پوپک بهزاد, , یحیوی سیدحسین, ,

آنومالی May-Hegglin یک اختلال نادر اتوزومال غالب است که با تریاد کاهش پلاکت، پلاکت های بزرگ و اجسام شبیه دوهل در گرانولوسیتها مشخص می گردد. .هدف از این بررسی گزارش اولین مورد نارسایی در ایران و تعیین نوع موتاسیون مربوطه است. در این بررسی آزمایش CBC و گستره خون محیطی دو بیمار از یک خانواده (پدر و پسر) که به ترتیب 51 و 15 ساله بودند با دو ضدانعقاد EDTA و سیترات تری سدیم با شمارنده خودکار و بررس...

2016
Nurten Dinç Selda Bereket Yücel Fatma Taneli Metin Vehbi Sayın

This study investigated athletic performance and homocysteine (Hcy) levels in relation to the methylenetetrahydrofolate reductase (MTHFR) C677T mutation and explored the relationship between this mutation and other cardiac risk factors in soccer players and sedentary individuals. The study groups consisted of randomly selected soccer players (n=48) from the Turkish Super and Major League and se...

Journal: :Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2006
Tiago Veiga Pereira Martina Rudnicki Alexandre Costa Pereira Maria S Pombo-de-Oliveira Rendrik França Franco

There is evidence supporting a role for 5-10 methylenetetrahydrofolate reductase (MTHFR) gene variants in acute lymphoblastic leukemia (ALL). To provide a more robust estimate of the effect of MTHFR polymorphisms on the risk of ALL, we did a meta-analysis to reevaluate the association between the two most commonly studied MTHFR polymorphisms (C677T and A1298C) and ALL risk. All case-control stu...

Journal: :Reproductive biology and endocrinology : RB&E 2004
Natalie K Björklund Jane A Evans Cheryl R Greenberg Lorne E Seargeant Carol E Schneider Bernard N Chodirker

INTRODUCTION The C677T MTHFR variant has been associated with the same third trimester pregnancy complications as seen in women who have elevations of maternal serum alpha-fetoprotein (MSAFP). We hypothesized that these women with third trimester pregnancy complications and MSAFP elevations would have an increased frequency of the variant compared to an abnormal study control group (women with ...

Journal: :Genetics and molecular research : GMR 2013
K H Chen L L Chen W G Li Y Fang G Y Huang

Numerous studies have evaluated the association between the maternal C677T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene and congenital heart defect (CHD) risk in the Chinese Han population. However, the specific association is still controversial. Six separate studies with 1089 subjects in the Chinese Han population on the relationship between the C677T polymorphism and ...

Journal: :Nanoscale 2016
Wenli Hui Sinong Zhang Chao Zhang Yinsheng Wan Juanli Zhu Gang Zhao Songdi Wu Dujuan Xi Qinlu Zhang Ningning Li Yali Cui

Current techniques for single nucleotide polymorphism (SNP) detection require tedious experimental procedures and expensive and sophisticated instruments. In this study, a visual genotyping method has been successfully established via combining ARMS-PCR with gold magnetic nanoparticle (GoldMag)-based lateral flow assay (LFA) and applied to the genotyping of methylenetetrahydrofolate reductase (...

2013
Yang Shujuan Zhang Jianxing Chen Xin-yue

OBJECTIVES Genetic factors and environmental factors play a role in pathogenesis of esophageal squamous cell carcinoma (ESCC). Previous studies regarding the association of folate intake and Methylenetetrahydrofolate reductase C677T polymorphism with ESCC was conflicting. We conducted a meta-analysis to investigate the association of MTHFR C677T and folate intake with esophageal cancer risk. ...

2012
Aniel Jessica Leticia Brambila-Tapia Jorge Durán-González Lucila Sandoval-Ramírez Juan Pablo Mena Mario Salazar-Páramo Jorge Iván Gámez-Nava Laura González-López Brissia Lazalde-Medina B Nory Omayra Dávalos Valeria Peralta-Leal Mónica Vázquez del Mercado Claudia Patricia Beltrán-Miranda Ingrid Patricia Dávalos

MTHFR polymorphisms C677T and A1298C are associated with reduced MTHFR enzyme activity and hyperhomocysteinemia, which has been associated with osteoporosis. The A163G polymorphism in osteoprotegerin (OPG) has been studied in osteoporosis with controversial results. The objective of the present study was to investigate the association(s) among MTHFR C677T, MTHFR A1298C, and OPG A163G polymorphi...

2017
Błażej Misiak Łukasz Łaczmański Natalia Kinga Słoka Elżbieta Szmida Ryszard Ślęzak Patryk Piotrowski Andrzej Kiejna Dorota Frydecka

Background In this study, we aimed to investigate the effects of polymorphisms in genes encoding 1-carbon metabolism enzymes on differential development of metabolic parameters during 12 weeks of treatment with second-generation antipsychotics in first-episode schizophrenia patients. Methods The following polymorphisms in 1-carbon metabolism genes were genotyped: MTHFR (C677T and A1298C), MTH...

Journal: :Human reproduction 2000
Z J Foka A F Lambropoulos H Saravelos G B Karas A Karavida T Agorastos V Zournatzi P E Makris J Bontis A Kotsis

The aim of this study was to investigate the relationship between recurrent miscarriages and factor V Leiden, prothrombin G20210A and C677T methylenetetrahydrofolate reductase (MTHFR) mutations. In this case-control study the prevalence of factor V Leiden, prothrombin G20210A and C677T methylenetetrahydrofolate reductase mutations was determined in a consecutive series of 80 recurrent miscarria...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید