نتایج جستجو برای: mtrr
تعداد نتایج: 307 فیلتر نتایج به سال:
OBJECTIVES Reduced susceptibility to extended-spectrum cephalosporins in Neisseria gonorrhoeae has, to date, been associated with three alterations: a mosaic penA allele encoding the penicillin-binding protein 2 (PBP2); A-del-mtrR, an adenine deletion in the mtrR promoter; and penB, comprising mutated alleles of PorBIb. In this study, we examined an association between reduced susceptibility to...
PURPOSE Various genetic variants have been reported to be linked to an increased risk of meningioma. However, no confirmed conclusion has been obtained. The purpose of the study was to investigate potential meningioma-associated gene polymorphisms, based on published evidence. MATERIALS AND METHODS An updated meta-analysis was performed in September 2016. After electronic database searching a...
We studied whether common polymorphisms in genes involved in folate metabolism affect methotrexate (MTX) sensitivity. Ex vivo MTX sensitivity of lymphoblasts obtained from pediatric patients with acute lymphoblastic leukemia (ALL; n = 157) was determined by the in situ thymidylate synthase inhibition assay after either continuous (21 hours; TSI(50, cont)) or short-term (3 hours; TSI(50, short))...
BACKGROUND The risk of colorectal cancer (CRC) and breast cancer (BC) is influenced by polymorphisms located in the genes encoding enzymes of the folate pathway. The aim of this study was to evaluate if A66G MTRR (rs1801394) polymorphism is involved in predisposition for colorectal and breast carcinogenesis in Romanian patients. MATERIALS AND METHODS In the present case-control study, 300 ind...
AIM To elucidate the association of MTHFR, MTRR, and RAD54L gene variations with meningioma in Turkish cohort. MATERIAL AND METHODS DNAs were isolated from 87 retrospective samples. The hotspot regions amplified specific primers via polymerase chain reaction (PCR), next-generation sequencing (NGS) was performed. All detected single-nucleotide polymorphisms (SNPs) listed compared healthy control...
OBJECTIVES To assess the ciprofloxacin resistance of Neisseria meningitidis isolated from 1999 through 2006 in Spain, susceptibility testing was conducted on 5300 isolates. METHODS Ten isolates showed MICs of ciprofloxacin ranging between 0.06 and 0.25 mg/L, and they were characterized by analysis for mutations within the quinolone resistance determining regions (QRDRs) in the gyrA, gyrB, par...
نوروپاتی ارثی عصب بینایی لبر (lhon) بیماری ارثی با ضعف بینایی چشمها و فقدان دید مرکزی می باشد. علت اولیه فقدان دید، جهش در dna میتوکندریایی است. اگر چه تأثیر فاکتورهای ژنتیکی و یا اپی ژنتیکی ثانویه ناشناخته ای نیز در نوروپاتی آن پیشنهاد می شود. این مطالعه برای اولین بار پلی مورفیسم ژنهای فولات و ریسک فاکتور ژنتیکی ثانویه lhon را در صورت وجود مورد بررسی قرار می دهد. پلی مورفیسمهای معمول ژنهای مت...
Downov sindrom najčešća je aneuploidija kromosoma 21. Neurorazvojni poremećaji i tipične kraniofacijalne dismorfije prisutne su u različitom stupnju svih osoba. Prirođene srčane greške kongenitalna anomalija, s prevalencijom 40-55 %. Najčešće prirođene osoba Downovim sindromom jesu septalni defekti. Uzrok prirođenih srčanih grešaka do danas nije potpunosti razjašnjen. Pretpostavka da polimorfiz...
Background: The 5, 10-methyleneterahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) are two essential enzymes involved in folate metabolism. The relationship between genetic polymorphisms and congenital heart defects (CHDs) is inconsistent. Our aim was to investigate the association between two well-known polymorphisms of MTHFR and MTRR genes, C677T and A66G, respectively,...
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