Heterozygote
Mostrando 1-12 de 383 artigos, teses e dissertações.
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1. Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia
ABSTRACT Objective: CYP21A2 mutation heterozygote carriers seem to have an increased risk of hyperandrogenism. However, the clinical relevance of the heterozygote carrier status and the reliability of hormonal testing in discriminating a carrier from a non-carrier are puzzling questions. We aimed to characterize a population of Portuguese females suspected
Archives of Endocrinology and Metabolism. Publicado em: 2022
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2. The liver injury following ischemia and reperfusion is worse in experimental knockout heterozygote mouse model for expression of connexin 43
Abstract Purpose: To evaluate that Connexin (Cx43) plays a role in lesions after hepatic ischemia/reperfusion (IR) injury. Methods: We use Cx43 deficient model (heterozygotes mice) and compared to a wild group. The groups underwent 1 hour ischemia and 24 hours reperfusion. The heterozygote genotype was confirmed by PCR. We analyzed the hepatic enzymes (AST
Acta Cir. Bras.. Publicado em: 13/12/2019
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3. Genetic diversity of eight wild populations of Pampus argenteus along the coast of China inferred from fifteen polymorphic microsatellite markers
Abstract Pampus argenteus (Perciformes: Stromateidae) is widely distributed along the coast of China, Indian Ocean, Arabian Gulf and North Sea. Due to overfishing and environmental degradation, its resources reduced year after year. Thus, new management strategies are urgently needed for the sustainable growth and utilization of this species. Characterizatio
Braz. j. oceanogr.. Publicado em: 02/12/2019
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4. ASSOCIATION OF RS2435357 AND RS1800858 POLYMORPHISMS IN RET PROTO-ONCOGENE WITH HIRSCHSPRUNG DISEASE: SYSTEMATIC REVIEW AND META-ANALYSIS
RESUMO Introdução: Muitos estudos publicados estimaram a associação dos polimorfismos rs2435357 e rs1800858 do proto-oncogene rearranjado durante a transfecção (RET) com o risco de doença por Hirschsprung (HSCR). No entanto, os resultados permanecem inconsistentes e controversos. Objetivo: Realizar metanálise para obter estimativa mais precisa da a
ABCD, arq. bras. cir. dig.. Publicado em: 21/10/2019
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5. A Turkish Patient With Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Mimicking Diabetic Ketoacidosis
Abstract Succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency is an autosomal recessive disorder of ketone body utilization that is clinically characterized with intermittent ketoacidosis crises. We report here the second Turkish case with SCOT deficiency. She experienced 3 ketoacidotic episodes: The first ketoacidotic crisis mimicked diabetic ketoacidos
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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6. Identification of novel mutations of Insulin Receptor Substrate 1 (IRS1) in tumor samples of non-small cell lung cancer (NSCLC): Implications for aberrant insulin signaling in development of cancer
Abstract Lung cancer is the leading cause of cancer-related death, and NSCLC constitutes nearly 85%–90% of all cases. The IRS proteins function as adaptors and transmit signals from multiple receptors. Upon binding of insulin to the insulin receptor (IR), IRS1 is phosphorylated at several YXXM motifs creating docking sites for the binding of PI3Kp85, which
Genet. Mol. Biol.. Publicado em: 25/02/2019
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7. Frequency of GJB2 mutations in patients with nonsyndromic hearing loss from an ethnically characterized Brazilian population
Resumo Introdução: Em diferentes partes do mundo, mutações do gene GJB2 estão associadas a perda auditiva não sindrômica e a mutação homozigótica 35delG (p.Gly12Valfs*2) é uma das principais causas de perda auditiva hereditária. No entanto, a mutação 35delG não é igualmente prevalente em todas as etnias, faz com que seja importante estudar o
Braz. j. otorhinolaryngol.. Publicado em: 2019-02
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8. ASSOCIATION OF INTERLEUKIN-10 -592A>C AND -819T>C POLYMORPHISMS WITH GASTRIC CANCER RISK: A SYSTEMATIC REVIEW AND META-ANALYSIS OF 44 CASE-CONTROL STUDIES
RESUMO Introdução: Uma série de estudos avaliou a associação entre os polimorfismos -592A>C e -819T>C nas regiões promotoras do risco de interleucina-10 (IL-10) e câncer gástrico (GC). No entanto, os resultados permanecem inconclusivos. Objetivo: Para entender melhor a associação dos polimorfismos com o risco de GC, realizamos uma meta-análise a
ABCD, arq. bras. cir. dig.. Publicado em: 07/01/2019
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9. Compound heterozygote of Hb DIran [HBB: c.67G>C, β 22(B4) Glu>Gln] with β0-thalassemia [cds 41/42 (-CTTT)] from Eastern India
Hematol., Transfus. Cell Ther.. Publicado em: 2018-03
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10. Association between multidrug resistance-1 C3435T gene polymorphism and right ventricular dysfunction in patients with chronic obstructive pulmonary disease: cross-sectional study
ABSTRACT BACKGROUND: Right ventricular (RV) dysfunction may develop over the course of chronic obstructive pulmonary disease (COPD) and is an important predictor of morbidity and mortality. Polymorphism of the multidrug resistance-1 (MDR-1) gene has been correlated with worse clinical findings among patients with COPD. Our aim here was to investigate the re
Sao Paulo Med. J.. Publicado em: 2018-03
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11. Association between the RAGE (receptor for advanced glycation end-products) -374T/A gene polymorphism and diabetic retinopathy in T2DM
Summary Objective: Interaction between advanced glycation end-products (AGEs) and receptor for AGEs (RAGE) in cells could affect both extracellular and intracellular structure and function, which plays a pivotal role in diabetic microvascular complications. The results from previous epidemiological studies on the association between RAGE gene -374T/A polymo
Rev. Assoc. Med. Bras.. Publicado em: 2017-11
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12. A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome
Loss of function of mutated solute carrier family 12 member 3 (SLC12A3) gene is the most frequent etiology for Gitelman syndrome (GS), which is mainly manifested by hypokalemia, hypomagnesemia and hypocalciuria. We report the genetic characteristics of one suspicious Chinese GS pedigree by gene sequencing. Complete sequencing analysis of the SLC12A3 gene rev
Braz J Med Biol Res. Publicado em: 24/10/2016