Single Nucleotide Polymorphism
Mostrando 1-12 de 563 artigos, teses e dissertações.
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1. 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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2. 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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3. 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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4. 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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5. 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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6. Gene variants and serum levels of synaptic vesicle and presynaptic plasma membrane proteins in alcohol dependence and their relationship with impulsivity and temperament
ABSTRACT Background: Exocytosis-related gene variants have been suggested to be associated with externalizing behaviors. Objective: This study aimed to examine VAMP2 26 bp Ins\Del, synaptotagmin XI (Syt11) rs3820594 and 33-bp promoter, Syntaxin 1A (Syn-1A) rs1569061 and SNAP-25 rs1051312 and rs3746544 polymorphisms, their serum levels and their relationshi
Arch. Clin. Psychiatry (São Paulo). Publicado em: 2021-04
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7. Clinical utility of TGFB1 and its receptors (TGFBR1 and TGFBR2) in thyroid nodules: evaluation based on single nucleotide polymorphisms and mRNA analysis
ABSTRACT Objective: Abnormalities involving the TGFB1 gene and its receptors are common in several types of cancer and often related to tumor progression. We investigated the role of single nucleotide polymorphisms (SNP) in the susceptibility to cancer, their impact on its features, as well as the role of mRNA expression of these genes in thyroid malignancy
Arch. Endocrinol. Metab.. Publicado em: 2021-04
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8. Is serum PSA a predictor of male hypogonadism?
ABSTRACT Objective: Abnormalities involving the TGFB1 gene and its receptors are common in several types of cancer and often related to tumor progression. We investigated the role of single nucleotide polymorphisms (SNP) in the susceptibility to cancer, their impact on its features, as well as the role of mRNA expression of these genes in thyroid malignancy
Arch. Endocrinol. Metab.. Publicado em: 2021-04
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9. A fragilidade dos marcadores culturais nas comunidades acadêmicas: distanciamento físico e ofuscação dos referentes grupais
ABSTRACT Objective: Abnormalities involving the TGFB1 gene and its receptors are common in several types of cancer and often related to tumor progression. We investigated the role of single nucleotide polymorphisms (SNP) in the susceptibility to cancer, their impact on its features, as well as the role of mRNA expression of these genes in thyroid malignancy
Rev. contab. finanç.. Publicado em: 2021-04
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10. 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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11. The rs11755527 polymorphism in the BACH2 gene and type 1 diabetes mellitus: case control study in a Brazilian population
ABSTRACT Objective Type 1 diabetes mellitus (T1DM) is an autoimmune disorder caused by a complex interaction between environmental and genetic risk factors. BTB domain and CNC homolog 2 (BACH2) gene encodes a transcription factor that acts on the differentiation and formation of B and T lymphocytes. BACH2 is also involved in the suppression of apoptosis an
Arch. Endocrinol. Metab.. Publicado em: 2020-04
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12. 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