Polymorphism Mthfr C677t
Mostrando 13-24 de 36 artigos, teses e dissertações.
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13. Prevalence of the polymorphism MTHFR a1298C and not MTHFR C677T is related to chromosomal aneuploidy in brazilian Turner Syndrome Patients: errata
Arquivos Brasileiros de Endocrinologia & Metabologia. Publicado em: 2009-02
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14. Estudo do polimorfismo C677T do gene da metilenotetrahidrofolato redutase (MTHFR) em pacientes com mucosite de trato gastrointestinal após transplante alogênico de medula óssea / Analysis of single nucleotide polymorphisms C677T of methylenetetrahidrofolate reductase (MTHFR) on the development of oral mucositis in allogeneic hematopoietic stem cell transplantation
A mucosite oral, também chamada recentemente de mucosite do trato gastrointestinal, continua sendo um importante efeito colateral que pode comprometer o resultado do transplante de células tronco hematopoéticas. Ela pode ocorrer em 100% dos pacientes submetidos ao transplante alogênico de células-tronco e a maior incidência neste pode ser atribuída à
Publicado em: 2009
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15. Prevenção primária da síndrome de Down e da doença de Alzheimer: Investigação de polimorfismos gênicos acentuadores da deposição cerebral de beta amilóide
O desenvolvimento de mudanças neuropatológicas características da doença de Alzheimer (DA) nos portadores de síndrome de Down (SD) a partir dos 40 anos de idade e a alta taxa de indivíduos com SD em famílias nas quais a DA está presente sugerem uma susceptibilidade comum entre as duas doenças. Além disso, mulheres jovens (<35 anos na concepção) q
Publicado em: 2009
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16. Avaliação hemostática e molecular em mulheres com câncer de mama receptor hormonal negativo
The breast cancer is the most common cause of death in women by malignant disease. The mechanisms related to recurrence are unclear, especially the hemostatic alterations that occur during the development of the disease and seem to be related to its aggressiveness. The study had as aim to assess in women with hormone negative receptor breast cancer, in a 24
Publicado em: 2009
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17. MTHFR , prothrombin and Factor V gene variants in Turkish patients with coronary artery stenosis
Many epidemiological studies have reported an association between hemostatic factors and risk of both coronary and peripheral artery diseases. Using polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis, we investigated the association between coronary artery disease and polymorphisms in the methylenetetrahydrofolate red
Genetics and Molecular Biology. Publicado em: 19/11/2008
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18. Methylenetetrahydrofolate reductase polymorphisms in myeloid leukemia patients from Northeastern Brazil
Methylenetetrahydrofolate reductase (MTHFR: EC 1.5.1.20) polymorphisms are associated to acute lymphoid leukemia in different populations. We used the polymerase chain reaction and the restriction fragment length polymorphism method (PCR-RFLP) to investigate MTHFR C677T and A1298C polymorphism frequencies in 67 patients with chronic myeloid leukemia (CML), 2
Genetics and Molecular Biology. Publicado em: 2008
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19. The MTR A2756G polymorphism is associated with an increase of plasma homocysteine concentration in Brazilian individuals with Down syndrome
Individuals with Down syndrome (DS) present decreased homocysteine (Hcy) concentration, reflecting a functional folate deficiency secondary to overexpression of the cystathionine ß-synthase gene. Since plasma Hcy may be influenced by genetic polymorphisms, we evaluated the influence of C677T and A1298C polymorphisms in the methylenetetrahydrofolate reductas
Brazilian Journal of Medical and Biological Research. Publicado em: 17/12/2007
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20. Cobalamin and folate intake by pregnant women: its relationship to homocysteine metabolism and to polymorphism in methionine synthase, methylenetetrahydrofolate reductase and methionine synthase reductase genes / Consumo de cobalamina e folato por gestantes: relação com o metabolismo da homocisteína e com os polimorfismos nos genes da metionina sintase, metilenotetraidrofolato redutase e metionina sintase redutase
Os consumos inadequados de cobalamina (Cbl) e de folato associados aos polimorfismos em genes de enzimas chaves do metabolismo da homocisteína podem agravar as comorbidades relacionadas a deficiências destas vitaminas. Os objetivos deste estudo foram avaliar o consumo de cobalamina, de folato e de vitamina 86 por gestantes através de três inquéritos rec
Publicado em: 2007
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21. The clinical impact of MTHFR polymorphism on the vascular complications of sickle cell disease
Sickle cell disease (SCD) is one of the most common inherited diseases in the world and the patients present notorious clinical heterogeneity. It is known that patients with SCD present activation of the blood coagulation and fibrinolytic systems, especially during vaso-occlusive crises, but also during the steady state of the disease. We determined if the p
Brazilian Journal of Medical and Biological Research. Publicado em: 09/08/2006
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22. Hyperhomocystinemia in patients with coronary artery disease
Hyperhomocystinemia has been related to an increased risk of cardiovascular disease in several studies. The C677T polymorphism for the gene that encodes the methylenetetrahydrofolate reductase enzyme (MTHFR) and low plasma folate levels are common causes of hyperhomocystinemia. Due to differences in nutritional patterns and genetic background among different
Brazilian Journal of Medical and Biological Research. Publicado em: 2006-04
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23. Transmission analysis of candidate genes for nonsyndromic oral clefts in Brazilian parent-child triads with recurrence
Cleft lip and/or palate (CL/P) is a major congenital defect with complex etiology, including multiple genetic and environmental factors. Approximately two thirds of the cases are not accompanied by other anomalies and are called nonsyndromic (NS). In the present study, we performed transmission distortion analysis of the MSX1-CA, TGFB3-CA and MTHFR-C677T pol
Genetics and Molecular Biology. Publicado em: 2006
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24. Polimorfismos dos genes MTHFR (metilenotetrahidrofolato redutase) e ECA (enzima conversora da angiotensina) em pacientes submetidos a transplante renal.
A disfunção crônica do transplante (DCTx) constitui aproximadamente 60% das causas de perda do transplante. Entre os possíveis fatores envolvidos estão o aumento do nível da homocisteína (Hcy) no plasma e a variabilidade genética no sistema angiotensina renina. Objetivos: investigar as freqüências do polimorfismo de deleção do gene ECA (enzima co
Publicado em: 2006