Mthfr
Mostrando 1-12 de 120 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. 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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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. Associação de Múltiplas Variantes Genéticas com a Extensão e Gravidade da Doença Coronária
Resumo Fundamento: A síndrome metabólica (SM) é condição que, associada à doença coronária e a eventos cardiovasculares, pode ser influenciada por variantes genéticas, determinando maior gravidade da aterosclerose coronária. Objetivos: Avaliar a contribuição de polimorfismos genéticos para a extensão da doença coronária em indivíduos com S
Arq. Bras. Cardiol.. Publicado em: 01/02/2018
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9. 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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10. 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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11. 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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12. Polimorfismos em metilenotetrahidrofolato redutase, cistationina beta-sintase no câncer de boca - um estudo de caso-controle no Sudeste brasileiro
Resumo Introdução: O carcinoma espinocelular oral (CECO) trata-se de um importante problema de saúde pública, devido à elevada taxa de mortalidade e incidência crescente em todo o mundo. A susceptibilidade ao CECO é mediada por interações entre fatores genéticos e ambientais. Estudos sugerem que as variantes genéticas que codificam as enzimas env
Braz. j. otorhinolaryngol.. Publicado em: 2016-10