Single Nucleotide Polymorphism Snp
Mostrando 1-12 de 228 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. 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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3. 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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4. 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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5. 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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6. 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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7. 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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8. 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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9. Genetic linkage map and mapping of the locus of biological nitrogen fixation inefficiency in cowpea
ABSTRACT. The objectives of the present study were to construct a cowpea genetic map using the F2 population resulting from the cross IC-1 x BRS Marataoã, based on single nucleotide polymorphism (SNP) markers, and to map the cpi gene, with additional reference to introgression with the consensus map of species, aiming to identify markers for assisted select
Acta Sci., Agron.. Publicado em: 23/09/2019
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10. Effects of melanocortin 1 receptor (MC1R) gene polymorphisms on plumage color in mule ducks
ABSTRACT The objective of the present study was to investigate the effect of single nucleotide polymorphism (SNP) of the melanocortin 1 receptor (MC1R) gene on plumage coloration in mule ducks. PCR-high-resolution melting analysis (PCR-HRM) and DNA sequencing were used to identify the SNP variability of the MC1R gene in white common ducks. Three non-synonymo
R. Bras. Zootec.. Publicado em: 22/07/2019
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11. Identification of duplicates in cassava germplasm banks based on single-nucleotide polymorphisms (SNPs)
ABSTRACT: Genetic redundancy in cassava (Manihot esculenta Crantz) presents a challenge to efficient management of genetic resources. This study aimed to identify and define the genetic structure of duplicates in cassava germplasm from various Embrapa research units, using single-nucleotide polymorphism (SNP) markers. We evaluated 2,371 accessions with 20,71
Sci. agric. (Piracicaba, Braz.). Publicado em: 2019-07
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12. 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