Genes Cyp21a2
Mostrando 13-24 de 25 artigos, teses e dissertações.
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13. Correlação entre a genotipagem dos alelos mais comuns do gene MDR1 e a farmacocinetica da droga dextromethorphan em voluntarios sadios / Influence of MDR1 polymorphisms on dextromethorphan pharmacokinetics in health Brazilian subjects
A farmacogenômica utiliza informações genéticas para orientar a escolha da terapia farmacológica em uma base individual, pressupondo que se podem prever diferenças na resposta a agentes terapêuticos entre indivíduos, a partir de sua constituição genética. Os estudos atuais de farmacogenômica objetivam otimizar a eficácia de uma droga e diminuir
Publicado em: 2007
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14. "Análise do gene PROP1 em pacientes com hipopituitarismo: estudo em DNA de células de mucosa oral e sangue periférico extraído com NaCI" / Analysis of PROP1 gene in patients with hypopituitarism: study in DNA from blood and oral cells extracted with NaCl.
As mutações no gene PROP1 são a causa genética mais comum da deficiência combinada de hormônios hipofisários. Até o momento, diversas mutações missense e pequenas deleções foram descritas sendo a mutação 301-302 delAG a mais freqüente. Nosso objetivo foi estudar as mutações em DNA de pacientes com hipopituitarismo e padronizar a extração d
Publicado em: 2005
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15. Estudo multicêntrico de pacientes brasileiros com deficiência da 21-hidroxilase: correlação do genótipo com o fenótipo
Analisamos as características clínicas e moleculares de 205 pacientes portadores das diferentes formas clínicas da deficiência da 21-hidroxilase, com diagnóstico hormonal e molecular definidos. As mutações mais freqüentes foram a I2 splice na forma perdedora de sal, a I172N na forma virilizante simples e a V281L na forma não clássica, com freqüên
Arquivos Brasileiros de Endocrinologia & Metabologia. Publicado em: 2004-10
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16. Bases Moleculares da Hiperplasia Adrenal Congênita
Hiperplasia adrenal congênita (HAC) é uma doença autossômica recessiva decorrente da alteração de enzimas que participam da síntese do cortisol. As manifestações podem ser causadas pela deficiência do cortisol e, em alguns casos, aldosterona e pelo acúmulo de precursores. O objetivo desta revisão é apresentar os mecanismos moleculares dos princi
Arquivos Brasileiros de Endocrinologia & Metabologia. Publicado em: 2002-08
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17. Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism.
Steroid 21-hydroxylase deficiency is a major cause of congenital adrenal hyperplasia and is caused by genetic impairment of this enzyme. Since approximately 80% of cases are caused by point mutations of the CYP21B (CYP21A2) gene, whereas the remaining 20% are due to deletion of this gene, we used the polymerase chain reaction single strand conformation polym
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18. Characterization of frequent deletions causing steroid 21-hydroxylase deficiency.
Steroid 21-hydroxylase deficiency is caused by mutations in the CYP21B gene. This gene and a highly homologous pseudogene, CYP21A, alternate with the C4A and C4B genes encoding the fourth component of complement. Classical deficiency alleles are frequently caused by deletions of CYP21B or by gene conversions that transfer deleterious mutations from the CYP21
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19. Enhanced Heterologous Expression of Two Streptomyces griseolus Cytochrome P450s and Streptomyces coelicolor Ferredoxin Reductase as Potentially Efficient Hydroxylation Catalysts
The herbicide-inducible, soluble cytochrome P450s CYP105A1 and CYP105B1 and their adjacent ferredoxins, Fd1 and Fd2, of Streptomyces griseolus were expressed in Escherichia coli to high levels. Conditions for high-level expression of active enzyme able to catalyze hydroxylation have been developed. Analysis of the expression levels of the P450 proteins in se
American Society for Microbiology.
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20. Genetic Sophistication of Human Complement Components C4A and C4B and RP-C4-CYP21-TNX (RCCX) Modules in the Major Histocompatibility Complex
Human populations are endowed with a sophisticated genetic diversity of complement C4 and its flanking genes RP, CYP21, and TNX in the RCCX modules of the major histocompatibility complex class III region. We applied definitive techniques to elucidate (a) the complement C4 polymorphisms in gene sizes, gene numbers, and protein isotypes and (b) their gene ord
The American Society of Human Genetics.
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21. The Potassium-Dependent Transcriptome of Arabidopsis Reveals a Prominent Role of Jasmonic Acid in Nutrient Signaling1[w]
Full genome microarrays were used to assess transcriptional responses of Arabidopsis seedlings to changing external supply of the essential macronutrient potassium (K+). Rank product statistics and iterative group analysis were employed to identify differentially regulated genes and statistically significant coregulated sets of functionally related genes. Th
American Society of Plant Biologists.
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22. Degradation of the thiocarbamate herbicide EPTC (S-ethyl dipropylcarbamothioate) and biosafening by Rhodococcus sp. strain NI86/21 involve an inducible cytochrome P-450 system and aldehyde dehydrogenase.
Determination of the N-terminal sequences of two EPTC (S-ethyl dipropylcarbamothioate)-induced proteins from thiocarbamate-degrading Rhodococcus sp. strain NI86/21 resolved by two-dimensional electrophoresis enabled the localization of the respective structural genes on two distinct DNA fragments. One of these strongly induced proteins is a NAD(+)-dependent
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23. Lack of cardiac fibrosis in a new model of high prorenin hyperaldosteronism
The aim of the present study was to test the hypothesis that elevation of prorenin in plasma is sufficient to induce cardiac fibrosis. Normotensive cyp1a1ren-2 transgenic rats with normal plasma prorenin and aldosterone levels were given 0.125% indole-3-carbinol (I3C) orally for a period of 12 wk. Plasma prorenin and aldosterone levels were determined in 4-w
American Physiological Society.
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24. Shared HLA class II-associated genetic susceptibility and resistance, related to the HLA-DQB1 gene, in IgA deficiency and common variable immunodeficiency.
Most cases of selective IgA deficiency (IgA-D) and common variable immunodeficiency (CVID) occur sporadically. However, familial clustering is not uncommon, and the two disorders can occur within the same family. We have previously described positive associations with three DR-DQ haplotypes as well as a strong negative association with DRw15,DQw6,Dw2 in IgA-