نتایج جستجو برای: rfc1

تعداد نتایج: 133  

2012
Hyery Kim Hyoung Jin Kang Hyo Jeong Kim Mi Kyung Jang Nam Hee Kim Yongtaek Oh Byoung-Don Han Ji-Yeob Choi Chul Woo Kim Ji Won Lee Kyung Duk Park Hee Young Shin Hyo Seop Ahn

Genetic polymorphisms are important factors in the effects and toxicity of chemotherapeutics. To analyze the pharmacogenetic and ethnic differences in chemotherapeutics, major genes implicated in the treatment of acute lymphoblastic leukemia (ALL) were analyzed. Eighteen loci of 16 genes in 100 patients with ALL were analyzed. The distribution of variant alleles were CYP3A4*1B (0%), CYP3A5*3 (0...

Journal: :Genetic epidemiology 2010
Adam E Locke Kenneth J Dooley Stuart W Tinker Soo Yeon Cheong Eleanor Feingold Emily G Allen Sallie B Freeman Claudine P Torfs Clifford L Cua Michael P Epstein Michael C Wu Xihong Lin George Capone Stephanie L Sherman Lora J H Bean

Cardiac abnormalities are one of the most common congenital defects observed in individuals with Down syndrome. Considerable research has implicated both folate deficiency and genetic variation in folate pathway genes with birth defects, including both congenital heart defects (CHD) and Down syndrome (DS). Here, we test variation in folate pathway genes for a role in the major DS-associated CHD...

2017
Trine Strandgaard Solveig Foder Anders Heuck Erik Ernst Morten S. Nielsen Karin Lykke-Hartmann

Folates have been shown to play a crucial role for proper development of the embryo as folate deficiency has been associated with reduced developmental capacity such as increased risk of fetal neural tube defects and spontanous abortion. Transcripts encoding the reduced folate carrier RFC1 (SLC19A1 protein) and the high-affinity folate receptor FOLR1 are expressed in oocytes and preimplantation...

Journal: :Molecular and cellular biology 2003
Richard Pelletier Maria M Krasilnikova George M Samadashwily Robert Lahue Sergei M Mirkin

The mechanisms of trinucleotide repeat expansions, underlying more than a dozen hereditary neurological disorders, are yet to be understood. Here we looked at the replication of (CGG)(n) x (CCG)(n) and (CAG)(n) x (CTG)(n) repeats and their propensity to expand in Saccharomyces cerevisiae. Using electrophoretic analysis of replication intermediates, we found that (CGG)(n) x (CCG)(n) repeats sign...

2014
Shuang Liang Yuanpeng Zhou Huijun Wang Yanyan Qian Duan Ma Weidong Tian Vishwani Persaud-Sharma Chen Yu Yunyun Ren Shufeng Zhou Xiaotian Li

OBJECTIVE To investigate the joint effects of the single nucleotide polymorphisms (SNPs) of genes in the folic acid pathway on homocysteine (Hcy) metabolism. METHODS Four hundred women with normal pregnancies were enrolled in this study. SNPs were identified by MassARRAY. Serum folic acid and Hcy concentration were measured. Analysis of variance (ANOVA) and support vector machine (SVM) regres...

2011
Yogita Ghodke Arvind Chopra Pooja Shintre Amrutesh Puranik Kalpana Joshi Bhushan Patwardhan

BACKGROUND & OBJECTIVES Many pharmacologically-relevant polymorphisms show variability among different populations. Though limited, data from Caucasian subjects have reported several single nucleotide polymorphism (SNPs) in folate biosynthetic pathway. These SNPs may be subjected to racial and ethnic differences. We carried out a study to determine the allelic frequencies of these SNPs in an In...

2017
Mirna Gisel González-Mercado Fernando Rivas M. Patricia Gallegos-Arreola M. Cristina Morán-Moguel Mario Salazar-Páramo Laura González-López J. Iván Gámez-Nava J. Francisco Muñoz-Valle Ricardo Medina-Coss y León Anahí González-Mercado Mario A. Aceves Nory O. Dávalos Agustín Macías-Chumacera Ingrid P. Dávalos

AIM To investigate the relationships of polymorphisms in genes whose protein products are related in the metabolic pathway of folic acid, particularly MTRR A66G, RFC1 G80A, and MTHFR C677T and A1298C, and disease activity in Mexican patients with rheumatoid arthritis (RA) treated with methotrexate (MTX). MATERIALS AND METHODS Sixty-eight patients with RA were included in the study who were be...

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