Methylenetetrahydrofolate Reductase
Mostrando 1-12 de 70 artigos, teses e dissertações.
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1. Association of methylenetetrahydrofolate reductase ( MTHFR ) gene polymorphisms (C677T and A1298C) with thyroid dysfunction: A meta-analysis and trial sequential analysis
ABSTRACT Recent studies have shown that two common methylenetetrahydrofolate reductase ( MTHFR ) gene polymorphisms (C677T and A1298C) might correlate with thyroid dysfunction, but the results remain inconsistent. We carried out a meta-analysis aiming to assess the relationship of both polymorphisms with thyroid dysfunction. The PubMed, EMBASE, CNKI (China N
Archives of Endocrinology and Metabolism. Publicado em: 2022
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2. Prevalence of thrombophilia-associated genetic risk factors in blood donors of a regional hospital in southern Brazil
ABSTRACT Introduction: Thromboembolic events occur due to an imbalance in the hemostasis and some factors associated with this condition can be inherited. In order to evaluate the frequency of genotypes considered to be common hereditary risk factors for thrombophilia associated with venous thrombosis (g.1691G>A and g.20210G>A) and hyperhomocysteinemia (g.6
Hematology, Transfusion and Cell Therapy. Publicado em: 2022
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3. Three Main Causes of Homocystinuria: CBS, cblC and MTHFR Deficiency. What do they Have in Common?
Abstract Genetic homocystinurias are a group of inborn errors of metabolism that result in the massive excretion of homocysteine (Hcy) in the urine due to Hcy accumulation in the body, usually causing neurological and cardiovascular complications. The three most frequent causes are classical homocystinuria [deficiency of cystathionine beta-synthase (CBS)], m
J. inborn errors metab. screen.. Publicado em: 05/12/2019
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4. Differential effects of the methylenetetrahydrofolate reductase polymorphisms (C677T and A1298C) on hematological malignancies among Latinos: a meta-analysis
Abstract Our objective was to determine the association between the methylenetetrahydrofolate reductase polymorphisms (C677T and A1298C) and the risk of developing acute lymphoblastic leukemia (ALL), chronic myeloid leukemia (CML), acute myeloid leukemia (AML), and multiple myelomas (MM) in Latinos. PubMed, SCOPUS, EBSCO, LILACS, and other Latin-specific dat
Genet. Mol. Biol.. Publicado em: 14/11/2019
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5. Impact of CPS1 Gene rs7422339 Polymorphism in Argentine Patients With Hyperhomocysteinemia
Abstract Carbamoyl phosphate synthetase 1 (CPS1) is a key gene in the first step of urea cycle and has been correlated with nitric oxide level and vascular smooth muscle activity. A functional single-nucleotide polymorphism C/A at position 4217 in CPS1 (National Center for Biotechnology Information SNP database no. rs7422339, T1405N) was reported to be assoc
J. inborn errors metab. screen.. Publicado em: 19/06/2019
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6. Isolated and Combined Remethylation Disorders: Biochemical and Genetic Diagnosis and Pathophysiology
Abstract Genetic defects affecting the remethylation pathway cause hyperhomocysteinemia. Isolated remethylation defects are caused by mutations of the 5, 10-methylenetetrahydrofolate reductase (MTHFR), methionine synthase reductase(MTRR), methionine synthase(MTR), and MMADHC genes, and combined remethylation defects are the result of mutations in genes invol
J. inborn errors metab. screen.. Publicado em: 16/05/2019
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7. MTHFR gene polymorphisms in hypothyroidism and hyperthyroidism among Jordanian females
ABSTRACT Objective Methylenetetrahydrofolate reductase (MTHFR) is involved in DNA methylation that is associated with autoimmune pathology. We investigated the association between MTHFR genetic polymorphisms at g.677C>T and g.1298A>C and their haplotypes, and the risk of thyroid dysfunction among Jordanian females. Subjects and methods A case-control stu
Arch. Endocrinol. Metab.. Publicado em: 02/05/2019
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8. The relationship between of ACE I/D and the MTHFR C677T polymorphisms in the pathophysiology of type 2 diabetes mellitus in a population of Brazilian obese patients
ABSTRACT Objectives This study aimed to evaluate the frequencies of the angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) and methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphisms in obese patients with and without type 2 diabetes mellitus (T2DM). Subjects and methods These polymorphisms were analyzed by polymerase chain reac
Arch. Endocrinol. Metab.. Publicado em: 2018-02
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9. Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in psoriasis in southern Turkey
Abstract: Background: Psoriasis is a multigenic and multifactorial dermatological disease linked to cardiovascular diseases. Increased levels of homocysteine in patients with psoriasis have been demonstrated in many studies. The most frequently investigated genetic defect that plays a role in homocysteine metabolism is single point substitution (C to T) loc
An. Bras. Dermatol.. Publicado em: 2016-10
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10. Age-related Changes in DNA Methylation Status of hTERT Gene Promoter of Oral Epithelial Cells
The purpose of this study was to investigate the effect of aging on the DNA methylation status of two genes involved in tumorigenesis (telomerase gene hTERT and DNA repair gene- MLH1) and one in metabolism (methylenetetrahydrofolate reductase gene- MTHFR) in oral epithelial cells. DNA methylation analysis was performed by Methylation Sensitive Restriction En
Braz. arch. biol. technol.. Publicado em: 01/08/2014
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11. The MTHFR C677T polymorphism and global DNA methylation in oral epithelial cells
DNA methylation is mediated by DNA methyltransferases (DNMTs) that add a methyl group to the 5'-carbon of cytosine. The enzyme methylenetetrahydrofolate reductase (MTHFR) catalyzes the reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate in the rate-limiting step of the cycle involving the methyl donor S-adenosyl-L-methionine (SAM). The MT
Genet. Mol. Biol.. Publicado em: 03/09/2013
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12. Avaliação do polimorfismo C677T (ALA222VAL) do gene da metilenotetrahidrofolato redutose (MTHFR) da hemocisteína e-493G/T do gene da proteína microssomal transportadora de triglicerídeos (MTP) em pacientes com hepatite C crônica do Nordeste do Brasil / Methylenetetrahydrofolate reductase (MTHFR) C677T (ALA222VAL) polimorphysm and microsomal triglyceride transfer protein (MTP) -493G/T polymorphism in chronic hepatitis C patients from Northeast of Brazil
Introdução: A infecção crônica pelo vírus da hepatite C (VHC) está associada à presença da resistência insulínica e da esteatose hepática, independentemente dos fatores metabólicos do hospedeiro. A alteração na enzima MTHFR resulta em hiperhomocisteinemia, que altera o metabolismo intracelular dos lipídios e pode estar relacionada à esteatos
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 12/09/2011