Single Nucleotide
Mostrando 1-12 de 4269 artigos, teses e dissertações.
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1. Investigation of allele frequencies of polymorphic variants in genes that are related to polycystic ovary syndrome
SUMMARY OBJECTIVE: Polycystic ovary syndrome is a hormonal disorder that normally affects women of reproductive age in the range of 18–44 years. This study aimed to investigate the allelic frequencies of two polymorphisms, IRS rs18012781 and INSR rs1799817, which are suspected to be involved in polycystic ovary syndrome. METHODS: The samples were obtaine
Revista da Associação Médica Brasileira. Publicado em: 2022
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2. Link between obsessive-compulsive disorder and polymorphisms in HDAC genes
Objective: Recently, epigenetic mechanisms related to histone modifications including histone deacetylation (HDAC) have been emphasized in psychiatric diseases. Few studies have investigated the relationship of HDAC gene variations to psychiatric diseases, but these gene variations have never been studied in obsessive-compulsive disorder (OCD). The present c
Brazilian Journal of Psychiatry. Publicado em: 2022
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3. Association of FOXO3 polymorphism (rs3800231) and clinical subphenotypes of beta thalassemic individuals
Abstract Introduction Studies have shown that the loss of the FOXO3 transcriptional function is involved in the pathophysiology of some chronic erythroid disorders, including beta-thalassemia (β-thal). Therefore, the single nucleotide polymorphism (SNP) rs3800231 (35-2764A > G) could contribute to alterations in its transcriptional activity, acting as a mo
Hematology, Transfusion and Cell Therapy. Publicado em: 2022
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4. The impact of the genetic background in a patient with papillary thyroid cancer and familial adenomatous polyposis
SUMMARY Thyroid cancer is the most common endocrine malignancy, and papillary thyroid carcinoma (PTC) is the main subtype. The cribriform morular variant is a histological phenotype of PTC characterized by its relationship with familial adenomatous polyposis (FAP). Description of the case: We report the genetic assessment of a 20-year-old female patient diag
Archives of Endocrinology and Metabolism. Publicado em: 2022
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5. 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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6. Investigation of maternal polymorphisms in genes related to glucose homeostasis and the influence on birth weight: a cohort study
Abstract Objectives: To contribute to a better understanding of the maternal genetic mechanisms that influence obstetric outcomes and that are involved in maternal and child health, this study aimed to evaluate the association between maternal genetic variants and the offspring birth weight by analyzing single-nucleotide polymorphisms (SNPs) in genes relate
Jornal de Pediatria. Publicado em: 2022
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7. Interleukin-17A in Egyptian leprosy patients: a clinical, genetic, and biochemical study
Abstract Background: Leprosy represents a long-term communicable disease resulting from Mycobacterium leprae infection. IL-17A is one of the pro-inflammatory cytokines that protects humans against many fungal and bacterial pathogens. Objective: To investigate IL-17A (rs2275913) gene polymorphism and its circulating level in leprosy patients, and to correla
Anais Brasileiros de Dermatologia. Publicado em: 2022
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8. 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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9. Possible association between a polymorphism of EPAS1 gene and persistent pulmonary hypertension of the newborn: a case-control study
Abstract Objective: To explore possible genes related to the development of persistent pulmonary hypertension of the newborn (PPHN). Methods: The authors identified 285 single nucleotide polymorphisms (SNPs) of 11 candidate genes (BMPR2, EPAS1, PDE3A, VEGFA, ENG, NOTCH3, SOD3, CPS1, ABCA3, ACVRL1, and SMAD9), using an Illumina Asian Screening Array-24 v1.0
Jornal de Pediatria. Publicado em: 2022
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10. Polymorphisms rs2010963 and rs833061 of the VEGF gene in polycystic ovary syndrome
SUMMARY OBJECTIVE: The polycystic ovary syndrome is the most common endocrine disorder, characterized by the dysregulation of ovarian angiogenesis. This alteration can be related to changes in the activities of the vascular endothelial growth factor (VEGF) gene. Single-nucleotide polymorphisms have been observed in the promoter, intronic, and untranslated r
Revista da Associação Médica Brasileira. Publicado em: 2022
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11. Associação do Genótipo e Fenótipo da Paraoxonase-1 com Angiografia Positiva para Doença Arterial Coronariana
Resumo Fundamento Tem sido demonstrado que um aumento dos níveis séricos de PON1 é protetor contra vários distúrbios. Foi relatado que vários polimorfismos de nucleotídeo único (SNPs, single nucleotide polymorphisms ) do gene PON1 estão associados a níveis e atividade de proteínas enzimáticas séricas. Objetivos Investigar a associação de S
Arquivos Brasileiros de Cardiologia. Publicado em: 2022
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12. Polymorphisms in the heme oxygenase-1 and bone morphogenetic protein receptor type 1b genes and estimated glomerular filtration rate in Brazilian sickle cell anemia patients
ABSTRACT Introduction Mutations affecting genes involved in oxidative and signaling pathways may be associated with kidney disease in sickle cell anemia. We determined the allele and genotype frequencies of some polymorphisms in the promoter regions of the Heme Oxygenase-1 (HMOX1) [rs2071746 (A > T) and (GT)n repeats, short (S) and long (L) alleles] and Bon
Hematol., Transfus. Cell Ther.. Publicado em: 2021-06