نتایج جستجو برای: a1298c

تعداد نتایج: 565  

2017
Runyin Zou Xiangling He Yanpeng Wu Xin Tian Yalan You Mincui Zheng Wanli Li Hui Zou Hua Liu Xiujuan Zhu Chengguang Zhu

BACKGROUND Acute lymphocytic leukemia (ALL) in children is a clonal disease of bone marrow hematopoietic stem cells. This study aimed to explore the associations between MTHFR or TS genetic polymorphisms and susceptibility to acute lymphocytic leukemia (ALL) in children. MATERIAL AND METHODS This case-control study included 79 ALL patients (case group) and 102 non-ALL patients (control group). ...

Journal: :Human reproduction 2007
G Callejón A Mayor-Olea A J Jiménez M J Gaitán A R Palomares F Martínez M Ruiz Armando Reyes-Engel

BACKGROUND Polymorphisms C677T and A1298C of the MTHFR gene have been implicated in fetal viability. In this study, we determined the allele and genotype frequencies of these polymorphisms in different populations, including spontaneous abortion (SA) fetal tissues, with the objective of evaluating their impact on fetal viability. METHODS 342 samples of fetal tissues, selected from SA occurring ...

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: :Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2004
Matthew F Rudd Gabrielle S Sellick Ruth Allinson Estella Matutes Daniel Catovsky Richard S Houlston

Folate availability is critical for DNA integrity, required for the transfer of methyl groups in the biosynthesis of thymidilate. Reduction of 5,10-methylenetetrahydrofolate, a donor for methylating dUMP to dTMP in DNA synthesis, to 5-methyltetrahydrofolate, the primary methyl donor for methionine synthesis, is catalyzed by 5,10-methylenetetrahydrofolate reductase (MTHFR). The MTHFR polymorphis...

2017
Kevin Cho Zubair M Amin Jie An Kerry Anne Rambaran Tyler B Johnson Saeed K Alzghari

Major depressive disorder (MDD) is a disorder that carries significant psychosocial and economic implications. Research efforts have focused on identifying biomarkers that can aid in the prediction, diagnosis, and efficacious treatment of MDD. Most of this focus has been placed on a polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene, C677T. MTHFR C677T is screened during MDD d...

2016
Angie M.S. Tosson Khalda S. Amr Mohamed B. Taher

Objectives: Down syndrome (DS) may be associated with congenital heart defects (CHD). Folate-metabolizing genes have been suspected as risk factors in DS and in CHD. We investigated the role of methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms and methionine synthase (MTR) A2756G polymorphism as risk factors for CHD in DS offspring. Material and Methods: This study incl...

Journal: :Haematologica 2004
Patrizia Chiusolo Giovanni Reddiconto Giuseppe Cimino Simona Sica Alessia Fiorini Giuliana Farina Antonella Vitale Federica Sorà Luca Laurenti Francesco Bartolozzi Paola Fazi Franco Mandelli Giuseppe Leone

BACKGROUND AND OBJECTIVES Methylenetetrahydrofolate reductase (MTHFR) is one of the enzymes involved in folate metabolism and DNA methylation and synthesis. Some genotypes of this highly polymorphic enzyme are associated with decreased activity. Previous studies have suggested that individuals with the MTHFR 677TT, 1298AC and 1298CC have a lower risk of adult acute lymphoblastic leukemia (ALL)....

2012
Abdelmajid Eloualid Omar Abidi Majida Charif Brahim El houate Houda Benrahma Noureddine Louanjli Elbakkay Chadli Maria Ajjemami Abdelhamid Barakat Anu Bashamboo Ken McElreavey Houria Rhaissi Hassan Rouba

The methylenetetrahydrofolate reductase (MTHFR) gene is one of the main regulatory enzymes involved in folate metabolism, DNA synthesis and remethylation reactions. The influence of MTHFR variants on male infertility is not completely understood. The objective of this study was to analyze the distribution of the MTHFR C677T and A1298C variants using PCR-Restriction Fragment Length Polymorphism ...

2017
Kyu Ri Hwang Young Min Choi Jin Ju Kim Sung Ki Lee Kwang Moon Yang Eun Chan Paik Hyeon Jeong Jeong Jong Kwan Jun Sang Ho Yoon Min A Hong

The balance between coagulation and fibrinolysis is an essential part in early pregnancy. Mutations in methylenetetrahydrofolate reductase (MTHFR) gene lead to decreased activity of the enzyme and hyperhomocysteinemia, which then induces platelet aggregation by promoting endothelial oxidative damage, possibly resulting in adverse effect on maintenance of pregnancy. We investigated the role of M...

2012
Ali Sazci Mavi Deniz Ozel Ergul Emel Halil Atilla Idrisoglu

Studies have revealed that elevated homocysteine levels can cause damage to motor neurons through multiple neurotoxic mechanisms, thus leading to the pathogenesis of amyotrophic lateral sclerosis (ALS). One way by which homocysteine levels are increased in the body is the consequence of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms. Therefore, to address this question, we studi...

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