Allelic Variants
Mostrando 1-12 de 234 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. Influence of Neuropeptide Y and Neuropeptide Y 2 Receptor Variants in Acute Coronary Syndrome
Abstract Background The neuropeptide Y (NPY) is one of the most abundant neurotransmitters in the nervous system. NPY acts as a potent stimulator of angiogenesis, inflammation, and adipogenesis, through the NPY 2 receptor (NPY2R). Changes in the NPY signaling pathway have been linked to Acute Coronary Syndrome (ACS). Objectives The purpose of this study
International Journal of Cardiovascular Sciences. Publicado em: 2022
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3. Targeted massively parallel sequencing for congenital generalized lipodystrophy
ABSTRACT Objective: Our aim is to establish genetic diagnosis of congenital generalized lipodystrophy (CGL) using targeted massively parallel sequencing (MPS), also known as next-generation sequencing (NGS). Subjects and methods: Nine unrelated individuals with a clinical diagnosis of CGL were recruited. We used a customized panel to capture genes related
Arch. Endocrinol. Metab.. Publicado em: 2020-10
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4. HLA-DRB1 GENE POLYMORPHISMS IN PEDIATRIC PATIENTS WITH TYPE 1 AUTOIMMUNE HEPATITIS AND TYPE 1 AUTOIMMUNE HEPATITIS OVERLAP SYNDROME WITH AUTOIMMUNE CHOLANGITIS
RESUMO CONTEXTO: Hepatite autoimune (HAI) é uma doença hepática inflamatória crônica, rara, associada à perda da tolerância imunológica aos auto-antígenos. A susceptibilidade à HAI é parcialmente determinada pela presença de genes relacionados ao antígeno leucocitário humano (HLA), principalmente variantes alélicas do DRB1. OBJETIVO: O obj
Arq. Gastroenterol.. Publicado em: 26/08/2019
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5. Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery
ABSTRACT The first description of patients with combined pituitary hormone deficiencies (CPHD) caused by PROP1 mutations was made 20 years ago. Here we updated the clinical and genetic characteristics of patients with PROP1 mutations and summarized the phenotypes of 14 patients with 7 different pathogenic PROP1 mutations followed at the Hospital das Clínica
Arch. Endocrinol. Metab.. Publicado em: 13/05/2019
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6. Effects of polymorphisms in APOB, APOE, HSD11β1, PLIN4, and ADIPOQ genes on lipid profile and anthropometric variables related to obesity in children and adolescents
Abstract Genes can influence lipid profile and anthropometric variables related to obesity. The present study aimed to verify if variants of the APOE, APOB, ADIPOQ, HSD11β1, and PLIN4 genes are associated with lipid levels or anthropometric variables in a sample comprised of 393 Euro-Brazilian children and adolescents. DNA was genotyped by TaqMan allelic di
Genet. Mol. Biol.. Publicado em: 23/11/2018
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7. Novel mutations associated with pyruvate kinase deficiency in Brazil
Abstract Background: Pyruvate kinase deficiency is a hereditary disease that affects the glycolytic pathway of the red blood cell, causing nonspherocytic hemolytic anemia. The disease is transmitted as an autosomal recessive trait and shows a marked variability in clinical expression. This study reports on the molecular characterization of ten Brazilian pyr
Hematol., Transfus. Cell Ther.. Publicado em: 2018-03
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8. Androgen insensitivity syndrome: a review
ABSTRACT Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically under 3 phenotypes: complete (CAIS), partial (PAIS) or mild (MAIS). The androgen receptor gene has 8
Arch. Endocrinol. Metab.. Publicado em: 2018-03
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9. Dyslexia risk variant rs600753 is linked with dyslexia-specific differential allelic expression of DYX1C1
Abstract An increasing number of genetic variants involved in dyslexia development were discovered during the last years, yet little is known about the molecular functional mechanisms of these SNPs. In this study we investigated whether dyslexia candidate SNPs have a direct, disease-specific effect on local expression levels of the assumed target gene by usi
Genet. Mol. Biol.. Publicado em: 19/02/2018
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10. Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect
ABSTRACT Homozygous STAT5B mutations causing growth hormone insensitivity with immune dysfunction were described in 10 patients since 2003, including two Brazilian brothers from the south of Brazil. Our objectives were to evaluate the prevalence of their STAT5B mutation in this region and to analyze the presence of a founder effect. We obtained DNA samples f
Genet. Mol. Biol.. Publicado em: 05/06/2017
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11. Molecular typing of human platelet antigens in immune thrombocytopenia patients in northern Brazil
ABSTRACT Background: Immune thrombocytopenia is an immune disease characterized by thrombocytopenia and bleeding due to platelet antibodies against platelet membrane glycoproteins. Human platelet antigens are derived from polymorphisms of these glycoproteins. The aim of this study was to investigate human platelet antigen frequencies in immune thrombocytope
Rev. Bras. Hematol. Hemoter.. Publicado em: 2017-06
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12. Prevalence of the rs1801282 single nucleotide polymorphism of the PPARG gene in patients with metabolic syndrome
Objective This study aimed to get the genotypic and allelic frequencies of rs1801282 in 179 volunteer donors and 154 patients with Metabolic syndrome (MetS) in Brasilia, Brazil and also examine the association with anthropometric, biochemical and hemodynamic variables in the latter group. MetS comprises a group of diseases resulting from insulin resistance,
Arch. Endocrinol. Metab.. Publicado em: 2015-08