Gene Mthfr
Mostrando 1-12 de 80 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. Can the genetic polymorphisms of the folate metabolism have an influence in the polycystic ovary syndrome?
ABSTRACT Objective To investigate the association of the genetic variants of the folate metabolism genes (MTHFR C677T; MTHFR A1298C; MTR A2756G; MTRR A66G and RFC-1 A80G) with the development of polycystic ovary syndrome (PCOS). Subjects and methods This study included 203 women (99 women with PCOS and 104 controls). The genotyping was performed by PCR-R
Arch. Endocrinol. Metab.. Publicado em: 02/09/2019
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4. 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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5. 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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6. 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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7. 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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8. Prevalência da mutação MTHFR C677T em mulheres férteis e inférteis
Resumo Introdução A importância da mutação C677T no gene da metilenotetrahidrofolato redutase (MTHFR) em mulheres com infertilidade permanece controversa. Objetivo Avaliar se a mutação MTHFR C677Témais frequente em mulheres inférteis, e se pode ser associada com a ocorrência de infertilidade na população brasileira. Métodos Estudo de caso-
Rev. Bras. Ginecol. Obstet.. Publicado em: 2017-12
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9. Global and gene-specific DNA methylation and hydroxymethylation in human skin exposed and not exposed to sun radiation
Abstract: Background: epigenomes can be influenced by environmental factors leading to the development of diseases. Objective: To investigate the influence of sun exposure on global DNA methylation and hydroxymethylation status and at specific sites of the miR-9-1, miR-9-3 and MTHFR genes in skin samples of subjects with no history of skin diseases. Metho
An. Bras. Dermatol.. Publicado em: 2017-12
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10. 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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11. Metabolismo e polimorfismos gênicos da via do folato em mulheres brasileiras com história de aborto recorrente
OBJETIVO: Investigar a associação entre polimorfismos nos genes que codificam enzimas envolvidas no metabolismo da homocisteína dependente de folato e vitamina B12 e aborto espontâneo recorrente.MÉTODOS: Investigamos os polimorfismos C677T e A1298C no gene methilenotetrahidrofalato redutase (MTHFR); o polimorfismo A2756G no gene metionina sintase (MS) e
Rev. Bras. Ginecol. Obstet.. Publicado em: 2015-02
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12. 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