Candidate Gene
Mostrando 1-12 de 1590 artigos, teses e dissertações.
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1. 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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2. Biomarker potential of hsa-miR-145-5p in peripheral whole blood of manic bipolar I patients
Objective: Bipolar I disorder (BD-I) is a type of bipolar spectrum disorder characterized by manic or mixed episodes. Detecting microRNA regulations as epigenetic actors in BD-I is important to elucidate the pathogenesis of the disease and reveal the potential of microRNAs (miRNAs) as biomarkers. Methods: We evaluated the expression profile of six candidate
Brazilian Journal of Psychiatry. Publicado em: 2022
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3. Ditching candidate gene association studies: lessons from psychiatric genetics
Objective: Longitudinal measurement invariance analyses are an important way to assess a test’s ability to estimate the underlying construct over time, ensuring that cognitive scores across visits represent a similar underlying construct, and that changes in test performance are attributable to individual change in cognitive abilities. We aimed to evaluat
Braz. J. Psychiatry. Publicado em: 2021-06
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4. Expression Analysis of Pyrenophora teres f. maculata-Responsive Loci in Hordeum vulgare
Abstract Pyrenophora teres f. maculata is the causal agent of barley spot form net blotch (SFNB), a major stubble-borne disease in many barley-growing areas worldwide. In plants, the Nucleotide-Binding Site-Leucine-Rich Repeat (NBS-LRR) gene family functions in immunity against a variety of pathogens and pests. From a pre-established set of NBS-type resistan
Braz. arch. biol. technol.. Publicado em: 20/12/2019
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5. Detection of Snps in the Melanocortin 1-Receptor (MC1R) and Its Association with Shank Color Trait in Hs Chicken
ABSTRACT The melanocortin 1 receptor (MC1R) gene plays a key role in controlling the deposition of melanin. In mammals, the MC1Rgene is regarded as a major candidate gene in the control of melanin formation. In domestic animals, the MC1R gene mainly controls the expression of coat, skin, and plumage color in mammals and birds. In order to breed chickens with
Braz. J. Poult. Sci.. Publicado em: 25/11/2019
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6. The morphological study and gene expression analysis in citrus hybrid with a short juvenile period
Abstract Citrus plants have a long juvenile period, which has hampered the breeding progress of these species. In this sense, research focused on reducing the juvenile phase is needed to accelerate the breeding process. In this study, the morphology of the hybrid {[(‘Rangpur’ lime) x YMCT (‘Yuma’ citrange) - 005] x (Microcitrus papuana) - 001} (H011
Crop Breed. Appl. Biotechnol.. Publicado em: 31/10/2019
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7. Effect of LCORL gene polymorphism on body size traits in horse populations
ABSTRACT. The aim of this study was to determine polymorphism of LCORL gene in horse breeds and its association with body size. PCR-RFLP technique was performed using AluI for genotyping of 306 horses. Results showed that C is the rare allele in Iranian Breeds, because these horses have been used since ancient times as a courier and for war and archery, henc
Acta Sci., Anim. Sci.. Publicado em: 24/10/2019
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8. [PROVISIONAL] -866G/A and Ins/Del polymorphisms in the UCP2 gene and diabetic kidney disease: case-control study and meta-analysis
Abstract Uncoupling protein 2 (UCP2) decreases reactive oxygen species (ROS) formation by mitochondria. ROS overproduction is a key contributor to the pathogenesis of diabetic kidney disease (DKD). Thus, UCP2 polymorphisms are candidate risk factors for DKD; however, their associations with this complication are still inconclusive. Here, we describe a case-c
Genet. Mol. Biol.. Publicado em: 02/09/2019
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9. Whole-exome sequencing in familial keratoconus: the challenges of a genetically complex disorder
RESUMO Objetivos: As causas genéticas subjacentes do ceratocone são essencialmente desconhecidas. Aqui, realizamos o sequenciamento de todo exoma de duas famílias brasileiras com ceratocone. Métodos: O sequenciamento total do exoma foi realizado em 6 indivíduos com ceratocone de duas famílias distintas do sul do Brasil. Variantes patogênicas foram i
Arq. Bras. Oftalmol.. Publicado em: 29/08/2019
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10. A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome)
Abstract A consanguineous Qatari family having an autosomal recessive disorder characterized by severe mental retardation, cerebellar vermis hypoplasia, retinal degeneration, optic nerve atrophy, ataxic gait, and seizures was studied for identification of the offending gene and mutation. Homozygosity mapping identified an 11.4 Mb critical interval at 4q12 to
J. inborn errors metab. screen.. Publicado em: 15/07/2019
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11. De novo transcriptome analysis of Tibetan medicinal plant Dysphania schraderiana
Abstract Dysphania schraderiana is widely distributed in Lhasa (Tibet, China) and used as a traditional medicine. However, the lack of genetic information hinders the understanding of its physiological processes, such as the biosynthesis of secondary metabolites. Herein, we used Illumina Hiseq4000 platform to sequence the transcriptome of flower and leaf tis
Genet. Mol. Biol.. Publicado em: 13/06/2019
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12. Adipokine gene variability and plasma levels in patients with chronic periodontitis -a case-control study
Abstract: Specific variants in genes that encode adipokines and their mRNA and protein expression were previously studied in type 2 diabetes mellitus (T2DM) and obesity, and similar studies have been performed for chronic periodontitis (CP). The aim of this case–control study was to investigate the possible impacts of adiponectin (ADIPOQ), leptin (LEP) and
Braz. oral res.. Publicado em: 25/04/2019