نتایج جستجو برای: a1298c mutation

تعداد نتایج: 291881  

2017
Maitane Umerez Ángela Gutierrez-Camino Carmen Muñoz-Maldonado Idoia Martin-Guerrero Africa Garcia-Orad

Methotrexate (MTX) is an important component in the therapy used to treat childhood acute lymphoblastic leukemia (ALL). Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme for MTX pharmacokinetics. Two single-nucleotide polymorphisms in MTHFR gene, C677T and A1298C, affecting MTHFR activity, have been widely studied as potential markers of MTX toxicity and/or outcome in pediatric ALL. I...

Journal: :Journal of the Neurological Sciences 2021

Ethnicity variation is one of the main factors that may affect drug response in clinical practice. As MTHFR gene affects different transcriptome and proteome which drugs. Purpose current study was to observe possible variations plasma levels carbamazepine monotherapy seizures' control Pakhtun population Khyber Pakhtunkhwa (KP) context (C677T A1298C) polymorphisms.

Journal: :Konuralp Tip Dergisi 2021

Objective: Down Syndrome (DS) is defined as chromosome 21 trisomy and associated with cardiovascular system diseases. We aimed to study inherited thrombophilia genes (MTHFR A1298C, MTHFR C677T, Factor II G20210A, V Leiden G1691A, Cambridge G1091C, XIII, APOB, ITGB3, FVHR2, FGB, PAI-1 ACE) in patients DS. Materials Methods: A total of 53 DS (32 male female) were included the study. Demographical...

Journal: :Genetics and molecular research : GMR 2014
Z G Wang W Cui L F Yang Y Q Zhu W H Wei

We conducted a hospital-based case-control study to investigate the associations of dietary intake of folate and MTHFR C677T and A1298C polymorphisms with breast cancer in a Chinese population. A 1:1-matched case-control study was conducted. Two hundred and thirty patients who were newly diagnosed and histologically confirmed breast cancer and 230 controls were enrolled from Xinxiang Central Ho...

2011
Cem Gokcen Nadir Kocak Ahmet Pekgor

OBJECTIVE The purpose of this study was to evaluate the relationship between 5,10- methylenetetrahydrofolate reductase (MTHFR) polymorphisms and Attention Deficit Hyperactivity Disorder (ADHD) in a sample of Turkish children. STUDY DESIGN MTHFR gene polymorphisms were assessed in 40 patients with ADHD and 30 healty controls. Two mutations in the MTHFR gene were investigated using polymerase c...

Journal: :iranian journal of neonatology 0
amin khaleghparast m.sc. of biology - genetics, science and research branch of islamic azad university, tehran, iran sharif khaleghparast b. eng. of industrial engineering, iran university of science and technology (iust), tehran, iran hossein khaleghparast ph.d. in public law, science and research branch of islamic azad university, tehran, iran

introduction: a factor known to cause thrombophilia in women with recurrent pregnancy loss (rpl) is the a1298c polymorphism of methylenetetrahydrofolate reductase gene (mthfr). this study aimed to determine the association between rpl and this polymorphism in iranian patients. methods: in this case-control study, 30 patients with a previous history of two or more consecutive unexplained abortio...

Journal: :Anticancer research 2012
Rita de Cássia Carvalho Barbosa Débora Menezes da Costa Denise Ellen Francelino Cordeiro Ana Patricia Freitas Vieira Silvia Helena Barem Rabenhorst

Polymorphisms in genes encoding enzymes of folate metabolism are a focus of breast cancer risk studies due of the role of these enzymes in DNA methylation, synthesis, and repair. MTHFR, encoding for 5,10-methylenetetrahydrofolate reductase, is one of the most studied genes in this regard, but findings are controversial, and the majority of studies have analyzed polymorphisms individually. In th...

Journal: :Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie 2011
D Arsene Gisela Găină Carmen Bălescu Carmen Ardeleanu

BACKGROUND Ischemic stroke is a major health problem. Data regarding the possible association between ischemic stroke and the polymorphism of methylenetetrahydropholate reductase (MTHFR) C677T and A1298C are still conflictual. AIM The study tried to assess the association of the two MTHFR polymorphisms with ischemic stroke in a series of patients from a unique hospital center. MATERIALS AND...

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