نتایج جستجو برای: a1298c mutation

تعداد نتایج: 291881  

Journal: :Anticancer research 2011
Chia-Wen Tsai Chia-Fang Hsu Ming-Hsui Tsai Yung-An Tsou Chun-Hung Hua Wen-Shin Chang Cheng-Chieh Lin Da-Tian Bau

The aim of this study was to evaluate the association and interaction of genotypic polymorphism in methylenetetrahydrofolate reductase (MTHFR) with smoking habits and oral cancer in Taiwan. Two well-known polymorphic variants of MTHFR, C677T (rs1801133) and A1298C (rs1801131), were analyzed in association with oral cancer risk, and their joint effects with individual smoking habits on oral canc...

2012
Dayse Maria Vasconcelos de Deus Elker Lene Santos de Lima Rafaela Maria Seabra Silva Edinalva Pereira Leite Maria Tereza Cartaxo Muniz

The influence of genic polymorphisms involved in metabolism of chemotherapeutic agents as the methotrexate (MTX) has been studied mainly in acute lymphoblastic leukemia (ALL) of childhood. Advances in treatment may be attributed to identification of prognostic factors added to chemotherapy protocol. The aim of this study was to analyze the association of the C677T, A1298C, and G80A polymorphism...

2017
Ewelina Maria Kałużna Ewa Strauss Bogna Świątek-Kościelna Olga Zając-Spychała Ewelina Gowin Jerzy S. Nowak Jolanta Rembowska Danuta Januszkiewicz-Lewandowska

The etiology of acute lymphoblastic leukemia (ALL) is complex, linked with both environmental exposures and genetic factors. Functional variants of the methylenetetrahydrofolate reductase (MTHFR) gene result in disturbance in folate metabolism and may affect susceptibility to cancer. The study was performed to evaluate whether MTHFR C677T and A1298C polymorphisms, analyzed separately and togeth...

2014
Halit Diri Elif Funda Sener Fahri Bayram Nazife Tascioglu Yasin Simsek Munis Dundar

Sheehan's Syndrome (SS) is defined as pituitary hormone deficiency due to ischemic infarction of the pituitary gland as a result of massive postpartum uterine hemorrhage. Herein, we aimed to investigate the roles of Factor II (G20210A), Factor V (G1691A), MTHFR (C677T and A1298C), PAI-1 4G/5G, and TNF- α (-308  G > A) gene polymorphisms in the etiopathogenesis of SS. Venous blood samples were o...

2006
Simon Gilbody Sarah Lewis Tracy Lightfoot

The authors performed a meta-analysis of studies examining the association between polymorphisms in the 5,10methylenetetrahydrofolate reductase (MTHFR) gene, including MTHFR C677T and A1298C, and common psychiatric disorders, including unipolar depression, anxiety disorders, bipolar disorder, and schizophrenia. The primary comparison was between homozygote variants and the wild type for MTHFR C...

2015
Ali Mohammad Foroughmand Hamid Galehdari Atefeh Pooryasin Tahereh Ajam Seyed Reza Kazemi-Nezhad

Schizophrenia is a complex disorder with polygenic inheritance. The MTHFR gene (OMIM: 607093) plays an important role in the folate metabolism. It has been suggested that C677T (rs1801133) and A1298C (rs1801131) genetic polymorphisms in the MTHFR gene lead to the decreased activity of the methylenetetrahydrofolate reductase enzyme which may have significant effect on developing schizophrenia. W...

2007
Larciprete Giovanni Angelucci Piero Antonio Celleno Danilo Gioia Stefano Deaibess Therese Romanini Maria Elisabetta Brienza Letizia Cirese Elio Arduini Domenico

Inherited thrombophilia is believed to be a multiple gene disease with more than one defect. We wanted to determine the association between single thrombophilic patterns and a variety of pregnancy diseases. 301 pregnant women were recruited for the present case-control study and were divided into two groups: A group (176 controls) and B group (125 cases). Patients belonging to the B group had o...

2015
Fatih Azık Dilek Gürlek Gökçebay Betül Tavil Pamir Işık Bahattin Tunç Duygu Uçkan

INTRODUCTION Venous thromboembolism (VTE) in children who undergo hematopoietic stem cell transplantation (HSCT) has high morbidity. The aim of this study is to assess the incidence of VTE in allogeneic pediatric HSCT recipients and the contribution of pretransplant prothrombotic risk factors to thrombosis. 
 METHODS We retrospectively evaluated 92 patients between April 2010 and November 201...

2010

A. 510(k) Number: k093974 B. Purpose for Submission: New Device C. Measurand: Factor II (FII) (Prothrombin) Factor V (FV) Leiden 5, 10 methylenetetrahydrofolate reductase (MTHFR) D. Type of Test: Qualitative genotyping test for single nucleotide polymorphism detection E. Applicant: Osmetech Molecular Diagnostics F. Proprietary and Established Names: eSensor® Thrombophilia Risk Test eSensor® FII...

Journal: :Romanian journal of ophthalmology 2015
Andreea Dana Fişuş Doina Suzana Pop Monica Blanka Rusu Florina Vultur Karin Ursula Horvath

Retinal vein occlusion (RVO) is the second most common retinal vein disease with significant visual loss via thrombus or compression of vein wall. Thrombophilia is the predisposition to vascular thrombosis with the existence of genetic defect that leads to blood hypercoagulability. This report describes the case of a 55 year old male patient, with an active life who presented himself at the eme...

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