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Mostrando 1-12 de 2358 artigos, teses e dissertações.
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1. Toward a phylogenetic reclassification of the subfamily Ambavioideae (Annonaceae): establishment of a new subfamily and a new tribe
ABSTRACT A molecular phylogeny of the subfamily Ambavioideae (Annonaceae) was reconstructed using up to eight plastid DNA regions (matK, ndhF, and rbcL exons; trnL intron; atpB-rbcL, psbA-trnH, trnL-trnF, and trnS-trnG intergenic spacers). The results indicate that the subfamily is not monophyletic, with the monotypic genus Meiocarpidium resolved as the seco
Acta Bot. Bras.. Publicado em: 2020-09
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2. Mcewan, Ian. Enclausurado. Tradução de Jorio Dauster. São Paulo: Companhia das Letras, 2016, 200 p.
RESUMO OBJETIVO Investigar a presença das mutações no gene Angiopoietina (ANGPT1) e gene Plasminogênio (PLG) em pacientes com Angioedema Hereditário (AEH) com inibidor C1 esterase (C1-INH) normal e negativos para mutação do gene F12. MÉTODOS Foram avaliados pacientes com diagnóstico clínico de AEH sem deficiência ou disfunção de C1-INH e neg
Cad. Trad.. Publicado em: 2020-04
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3. Study of angiopoietin and plasminogen genes in hereditary angioedema
RESUMO OBJETIVO Investigar a presença das mutações no gene Angiopoietina (ANGPT1) e gene Plasminogênio (PLG) em pacientes com Angioedema Hereditário (AEH) com inibidor C1 esterase (C1-INH) normal e negativos para mutação do gene F12. MÉTODOS Foram avaliados pacientes com diagnóstico clínico de AEH sem deficiência ou disfunção de C1-INH e neg
Rev. Assoc. Med. Bras.. Publicado em: 2020-04
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4. 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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5. Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart
Abstract Mucopolysaccharidosis (MPS) are a group of rare genetic disorders caused by deficiency in the activity of specific lysosomal enzymes required for the degradation of glycosaminoglycans (GAGs). A defect in the activity of these enzymes will result in the abnormal accumulation of GAGs inside the lysosomes of most cells, inducing progressive cellular da
Genet. Mol. Biol.. Publicado em: 11/04/2019
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6. Evaluation of Dietary Supplement Intake (Yeast Tablets) on Pregnant Albino Rats and Their Fetuses (Implications of Yeast Tablets on Rats & Fetuses)
ABSTRACT Histopathological studies in placenta, liver, kidney, apoptotic DNA damage and p53 mutation estimation of pregnant rats and their offspring exposed to dietary supplement yeast tablets, were carried out. Pregnant female albino rats were orally administrated yeast tablets at concentration 41.1 mg/kg during gestation period. Hematoxylin and eosin stain
Braz. arch. biol. technol.. Publicado em: 14/11/2018
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7. Genome-wide characterization of the NRAMP gene family in Phaseolus vulgaris provides insights into functional implications during common bean development
Abstract Transporter proteins play an essential role in the uptake, trafficking and storage of metals in plant tissues. The Natural Resistance-Associated Macrophage Protein (NRAMP) family plays an essential role in divalent metal transport. We conducted bioinformatics approaches to identify seven NRAMP genes in the Phaseolus vulgaris genome, investigated the
Genet. Mol. Biol.. Publicado em: 11/10/2018
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8. MUTAÇÕES DO GENE DO RECEPTOR DE VITAMINA D E NÍVEIS SÉRICOS DE VITAMINA D EM CRIANÇAS COM ASMA
RESUMO Objetivo: Verificar a relação dos polimorfismos do gene do receptor de vitamina D (RVD) com sinais clínicos e níveis de vitamina D (VD) em asmáticos. Métodos: Estudo transversal com 77 crianças de 7 a 14 anos de um ambulatório especializado, divididas em 3 grupos: asmáticos, em uso de corticoide inalatório (ICS) por mais de um ano; asmá
Rev. paul. pediatr.. Publicado em: 26/07/2018
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9. Investigation of PRL-RsaI and HaeIII gene polymorphisms in Anatolian water buffaloes bred by using PCR-RFLP method
ABSTRACT The objective of this study was to investigate polymorphisms both in exons 1 and 3 of prolactin (PRL) gene for milk productivity of Anatolian water buffalo breed in Sivas province in Turkey. Blood samples were collected from 129 male and female water buffaloes and DNA was isolated by using phenol/chloroform method. Samples of DNA were amplified and
R. Bras. Zootec.. Publicado em: 05/03/2018
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10. 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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11. Investigação de polimorfismos no gene MEFV (G138G e A165A) em pacientes adultos com febre mediterrânica familiar
Resumo Objetivo: Identificaram-se mutações no gene da febre mediterrânica (MEFV) relatadas como responsáveis pela febre mediterrânica familiar (FMF). Este estudo teve como objetivo determinar a frequência de mutações no MEFV na região sul do mar de Mármara e investigar o impacto dos polimorfismos genéticos G138G (rs224224, c.414A > G) e A165A (rs
Rev. Bras. Reumatol.. Publicado em: 2017-12
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12. Diagnóstico genético pré-implantacional associado à distrofia muscular de Duchenne
RESUMO A distrofia muscular de Duchenne é a doença muscular mais comum observadas em crianças do sexo masculino. Atualmente, não há terapia eficaz disponível para distrofia muscular de Duchenne, portanto, é essencial o diagnóstico pré-natal e o aconselhamento genético para reduzir o nascimento desses meninos. Relatamos um caso de diagnóstico gené
Einstein (São Paulo). Publicado em: 21/09/2017