Gene Frequency
Mostrando 1-12 de 3699 artigos, teses e dissertações.
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1. Hereditary hemochromatosis beyond hyperferritinemia: Clinical and laboratory investigation of the patient’s profile submitted to phlebotomy in two reference centers in southern Brazil
Abstract Hereditary Hemochromatosis is a disorder characterized by iron deposition in several organs and hyperferritinemia. The most studied variants are linked to the HFE gene. In Brazil, surveys that characterize this population are scarce, with no sampling in the state of Rio Grande do Sul. Our objective is to carry out a data collection focusing on the p
Genetics and Molecular Biology. Publicado em: 2023
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2. 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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3. Association of FAAH p.Pro129Thr and COMT p.Ala72Ser with schizophrenia and comorbid substance use through next-generation sequencing: an exploratory analysis
Objective: Individuals with schizophrenia and substance use disorders have a poor prognosis and increased psychiatric symptoms. The present study aimed to explore the association of 106 genes in individuals with schizophrenia and comorbid substance use through a next-generation sequencing (NGS) analysis and different in silico algorithms. Methods: We includ
Brazilian Journal of Psychiatry. Publicado em: 2022
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4. 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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5. Association between FY*02N.01 and the severity of COVID-19: initial observations
ABSTRACT Introduction The pro-inflammatory immune response underlies severe cases of COVID-19. Antigens of the Duffy blood group systems are receptors for pro-inflammation chemokines. The ACKR1 c.-67T>C gene variation silences the expression of Duffy antigens on erythrocytes and individuals presenting this variant in homozygosity have impaired inflammatory
Hematology, Transfusion and Cell Therapy. Publicado em: 2022
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6. Urethral reconstruction and genitoplasty highlighted in International Brazilian Journal of Urology
ABSTRACT Objective: Interstitial cystitis (IC)/bladder pain syndrome (BPS) is a chronic inflammatory disease that can cause bladder pain and accompanying symptoms, such as long-term urinary frequency and urgency. IC/BPS can be ulcerative or non-ulcerative. The aim of this study was to explore the core genes involved in the pathogenesis of ulcerative IC, and
Int. braz j urol.. Publicado em: 2021-08
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7. Exploration of the core genes in ulcerative interstitial cystitis/bladder pain syndrome
ABSTRACT Objective: Interstitial cystitis (IC)/bladder pain syndrome (BPS) is a chronic inflammatory disease that can cause bladder pain and accompanying symptoms, such as long-term urinary frequency and urgency. IC/BPS can be ulcerative or non-ulcerative. The aim of this study was to explore the core genes involved in the pathogenesis of ulcerative IC, and
Int. braz j urol.. Publicado em: 2021-08
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8. T3 therapy for hypothyroidism: choosing wisely still requires careful bench to bedside translation
ABSTRACT Objective: To study the association of SLC16A11 gene variants with obesity and metabolic markers in nondiabetic Chilean adults. Materials and methods: This cross-sectional study included 263 non-diabetic adults. The genotype of the rs75493593 polymorphism of SLC16A11 gene was performed by real-time PCR. It's association with adiposity markers (bod
Arch. Endocrinol. Metab.. Publicado em: 2021-06
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9. Genetic variants in the SLC16A11 gene are associated with increased BMI and insulin levels in nondiabetic Chilean population
ABSTRACT Objective: To study the association of SLC16A11 gene variants with obesity and metabolic markers in nondiabetic Chilean adults. Materials and methods: This cross-sectional study included 263 non-diabetic adults. The genotype of the rs75493593 polymorphism of SLC16A11 gene was performed by real-time PCR. It's association with adiposity markers (bod
Arch. Endocrinol. Metab.. Publicado em: 2021-06
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10. DRD4 genotyping may differentiate symptoms of attention-deficit/hyperactivity disorder and sluggish cognitive tempo
Objective: Studies to reduce the heterogeneity of attention-deficit/hyperactivity disorder (ADHD) have increased interest in the concept of sluggish cognitive tempo (SCT). The aim of this study was to investigate if the prevalence of two variable-number tandem repeats (VNTRs) located within the 3′-untranslated region of the DAT1 gene and in exon 3 of the
Braz. J. Psychiatry. Publicado em: 2020-12
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11. The heterogeneic distribution of Helicobacter pylori cag pathogenicity island reflects different pathologies in multiracial Malaysian population
ABSTRACT Background: Helicobacter pylori harbouring cag-pathogenicity island (cagPAI) which encodes type IV secretion system (T4SS) and cagA virulence gene are involved in inflammation of the gastric mucosa. We examined all the 27 cagPAI genes in 88 H. pylori isolates from patients of different ethnicities and examined the association of the intactness of c
Braz J Infect Dis. Publicado em: 2020-12
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12. Clinical and molecular profile of a Brazilian cohort of patients with classical BCR-ABL1-negative myeloproliferative neoplasms
ABSTRACT Background: The classical BCR-ABL1-negative myeloproliferative neoplasms (MPNs) are Polycythemia Vera (PV), Essential Thrombocythemia (ET) and Primary Myelofibrosis (PMF). In developing countries, there are few reports that truly reveal the clinical setting of these patients. Therefore, we aimed to characterize a single center MPN population with a
Hematol., Transfus. Cell Ther.. Publicado em: 2020-09