Enzyme Polymorphism
Mostrando 1-12 de 502 artigos, teses e dissertações.
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1. The A allele of the rs759853 single nucleotide polymorphism in the AKR1B1 gene confers risk for diabetic kidney disease in patients with type 2 diabetes from a Brazilian population
ABSTRACT Objective: The AKR1B1 gene encodes an enzyme that catalyzes the reduction of glucose into sorbitol. Chronic hyperglycemia in patients with diabetes mellitus (DM) leads to increased AKR1B1 affinity for glucose and, consequently, sorbitol accumulation. Elevated sorbitol increases oxidative stress, which is one of the main pathways related to chronic
Archives of Endocrinology and Metabolism. Publicado em: 2022
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2. The Relationship Between Serum Concentration of Interleukin-35 and FoxP3 Polymorphism in Patients Undergoing Coronary Artery Bypass Graft Surgery
Abstract Objective: To investigate the association between interleukin-35 (IL-35) levels and single nucleotide polymorphisms (rs3761548, rs3761547) of the FoxP3 gene in coronary artery bypass grafting (CABG) patients. Methods: We conducted a prospective study including 140 patients, who were scheduled for elective isolated on-pump CABG with cardiopulmonary
Braz. J. Cardiovasc. Surg.. Publicado em: 2020-10
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3. Polymorphism of Serotonin Transporter SLC6A4 (5-HTTLPR) Gene in Cheilitis Angularis Patients
Abstract Objective: To determine the relationship between the Serotonin transporter SLC6A4 (5-HTTLPR) gene polymorphism in cheilitis angularis patients. Material and Methods: We conducted a descriptive analysis of 100 DNA samples extracted from the blood serum of 50 patients with cheilitis angularis and 50 patients without cheilitis angularis. Analysis of
Pesqui. Bras. Odontopediatria Clín. Integr.. Publicado em: 13/01/2020
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4. Alternative methodologies for genotyping polymorphisms in the CAST and CAPN1 genes in beef cattle
ABSTRACT The objectives of this study were to genotype single nucleotide polymorphisms (SNP) AF159246:g.2959A>G (CAST/DdeI) and AF248054.2:g.6545C>T (CAPN4751) in beef cattle by PCR-RFLP (Polymerase Chain Reaction - Restriction Fragment Length Polymorphism), using the restriction enzyme DdeI for both SNP, and describe the use of these genotyping methodologie
R. Bras. Zootec.. Publicado em: 28/11/2019
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5. Assessment of Polymorphismof the VDR Gene and Serum Vitamin D Values in Gestational Diabetes Mellitus
Resumo Objetivo Avaliar a relação entre o polimorfismo do gene receptor da vitamina D (VDR) (FokI [rs10735810]) e a concentração sérica de vitamina D no diabetes mellitus gestacional (DMG). Métodos Estudo prospectivo tipo caso-controle que recrutou gestantes saudáveis (grupo controle) (n = 78) e com DMG (grupo DMG) (n = 79), sem outras comorbidade
Rev. Bras. Ginecol. Obstet.. Publicado em: 15/08/2019
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6. A meta-analysis on the association of genetic polymorphism of the angiotensin-converting enzyme and coronary artery disease in the chinese population
RESUMO OBJETIVO: Investigar a associação entre o polimorfismo de inserção ou deleção do genótipo do gene da enzima conversora da angiotensina (ACE) e a susceptibilidade da etnia Han chinesa para a doença arterial coronariana (DAC). Métodos: Foi realizada uma pesquisa abrangente para o valor de OR (Odds Ratio) de contraste entre o grupo de polimorf
Rev. Assoc. Med. Bras.. Publicado em: 22/07/2019
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7. Association of S100B polymorphisms and serum S100B with risk of systemic lupus erythematous in a Chinese population
Abstract The aim of this study was to investigate whether the S100B polymorphisms are associated with systemic lupus erythematous (SLE) in a Chinese population. A total of 313 SLE patients and 396 control subjects were enrolled in the present study. The genotypes of three SNPs (rs9722, rs881827 and rs1051169) in S100B gene were detected by single base extens
Genet. Mol. Biol.. Publicado em: 01/07/2019
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8. Folate and Cancer: Is There Any Association?
Abstract Folate plays a central role in DNA synthesis and methylation, which are essential for DNA integrity maintenance and gene expression. Folate deficiency may lead to the incorporation of uracil into DNA and chromosome breaks, increasing the risk of cancer. However, conflicting evidence has been observed depending on the type of epidemiological study, d
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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9. Association between col1a2 Polymorphism and the Occurrence of Pelvic Organ Prolapse in Brazilian Women
Resumo Objetivo Avaliar o polimorfismo rs42524 do gene pró-colágeno tipo I alfa (α) 2 (COL1A2) como fator relacionado ao desenvolvimento de prolapso de órgãos pélvicos (POP) em mulheres brasileiras. Métodos O estudo envolveu 112 mulheres com POP nos estádios III e IV (grupo caso) e 180 mulheres com POP nos estádios zero e I (grupo controle). Out
Rev. Bras. Ginecol. Obstet.. Publicado em: 15/04/2019
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10. Influence of ACE Polymorphism on Echocardiographic Data of Patients with Heart Failure
Abstract Background: Angiotensin converting enzyme (ACE) polymorphism has been associated with different clinical and echocardiographic parameters in patients with heart failure (HF). However, no studies have been investigated such association with HF caused by Chagas disease. Objectives: To perform a genetic study to evaluate the frequency of ACE polymorp
Int. J. Cardiovasc. Sci.. Publicado em: 2019-02
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11. Prevalence of G6PD deficiency and molecular characterization of G202A, A376G and C563T polymorphisms in newborns in Southeastern Brazil
RESUMO Objetivo Avaliar a prevalência da deficiência de G6PD e caracterizar, por ensaios moleculares, os polimorfismos G202A, A376G e C563T em recém-nascidos. Métodos Foram testadas mil amostras por meio da análise quantitativa da atividade enzimática, detectando 25 portadores de deficiência de G6PD. Os pacientes identificados como deficientes foram
Einstein (São Paulo). Publicado em: 21/01/2019
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12. Influence of ACE Polymorphism on Echocardiographic Data of Patients with Heart Failure
Abstract Background: Angiotensin converting enzyme (ACE) polymorphism has been associated with different clinical and echocardiographic parameters in patients with heart failure (HF). However, no studies have been investigated such association with HF caused by Chagas disease. Objectives: To perform a genetic study to evaluate the frequency of ACE polymorp
Int. J. Cardiovasc. Sci.. Publicado em: 22/10/2018