Minigenes
Mostrando 1-12 de 86 artigos, teses e dissertações.
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1. Heterozigose para mutação no gene CYP21A2 considerada como deficiência de 21-hidroxilase na triagem neonatal
A deficiência de 21-hidroxilase (21-OHD) é uma doença autossômica recessiva que contribui com mais de 90% dos casos de hiperplasia congênita da adrenal. O teste de dosagem de 17-hidroxiprogesterona (17-OHP) por radioimunoensaio em amostras de sangue colhidas em papel de filtro tem sido o método mais usado nos programas de triagem neonatal. No entanto,
Arquivos Brasileiros de Endocrinologia & Metabologia. Publicado em: 2008-11
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2. New mutations in CYP21A2 and CYP11B1 genes and their effects upon the enzimatic activities / Mutações novas dos genes CYP21A2 e CYP11B1 e suas alferações na atividade enzimatica
A causa mais freqüente de hiperplasia congênita da adrenal (HCA) é a deficiência da enzima CYP21A2 responsável por cerca de 90% dos casos, seguida da deficiência de CYP11B1, a qual é responsável por 5-8%. A deficiência de CYP21A2 apresenta diferentes sintomas clínicos, que podem variar de uma forma leve não clássica (NC) a uma forma grave clássi
Publicado em: 2008
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3. Construção de minigenes para avaliação de mutações que açlteram o sitio de splicing do gene responsavel pela glicogenose tipo Ia (Doença de Von Gierke)
A doença de depósito de glicogênio do tipo Ia (GSDIa), é a forma mais comum entre as glicogenose do tipo I (GSDI), com uma freqüência de 1:100.000 nascimentos. É uma doença de herança autossômica recessiva, clinicamente caracterizada por hipoglicemia, hepatomegalia, retardo no crescimento, hiperlipidemia, hiperuricemia e acidose láctica. Esses sin
Publicado em: 2001
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4. Possible involvement of human D minigenes in the first complementarity-determining region of kappa light chains.
The nucleotide sequences of the complementary strands of two human diversity region (D) minigenes, D2 and D4, show stretches of homology with two human variable region kappa chain (V kappa) genes, NG9 and HK101, respectively, in the first complementarity-determining region. In one V kappa sequence, the homology includes the 5' flanking region of D minigenes,
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5. Inhibition of Translation and Cell Growth by Minigene Expression
A random five-codon gene library was used to isolate minigenes whose expression causes cell growth arrest. Eight different deleterious minigenes were isolated, five of which had in-frame stop codons; the predicted expressed peptides ranged in size from two to five amino acids. Mutational analysis demonstrated that translation of the inhibitory minigenes is e
American Society for Microbiology.
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6. Expression and amplification of engineered mouse dihydrofolate reductase minigenes.
We constructed mouse dihydrofolate reductase (DHFR) minigenes (dhfr) that had 1.5 kilobases of 5' flanking sequences and contained either none or only one of the intervening sequences that are normally present in the coding region. They were greater than or equal to 3.2 kilobase long, about one-tenth the size of the corresponding chromosomal gene. Both of th
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7. Human argininosuccinate synthetase minigenes are subject to arginine-mediated repression but not to trans induction.
The human argininosuccinate synthetase locus is subject to metabolite-mediated repression by arginine in some cultured cell lines. To gain insight into the mechanism underlying this regulation, chloramphenicol acetyltransferase (CAT) minigenes under the transcriptional control of the human argininosuccinate synthetase promoter were constructed and tested for
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8. Splicing signals are required for S-phase regulation of the mouse thymidylate synthase gene.
The thymidylate synthase (TS) gene is expressed at a much higher level in cells undergoing DNA replication than in nondividing cells. In growth-stimulated mammalian cells, TS mRNA content increases 10 to 20-fold as cells progress from G1 through S phase. However, the rate of transcription of the TS gene does not increase during this interval, indicating that
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9. DNA Immunization with Minigenes: Low Frequency of Memory Cytotoxic T Lymphocytes and Inefficient Antiviral Protection Are Rectified by Ubiquitination†
Our previous studies have shown that isolated cytotoxic T lymphocyte (CTL), B-cell, and T-helper epitopes, for which we coined the term minigenes, can be effective vaccines; when expressed from recombinant vaccinia viruses, these short immunogenic sequences confer protection against a variety of viruses and bacteria. In addition, we have previously demonstra
American Society for Microbiology.
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10. 5′- and 3′-terminal nucleotides in the FGFR2 ISAR splicing element core have overlapping roles in exon IIIb activation and exon IIIc repression
The cell type-specific, mutually-exclusive alternative splicing of the fibroblast growth factor receptor 2 (FGFR2) pre-mRNA is tightly regulated. A sequence termed ISAR (intronic splicing activator and repressor) has been implicated as an important cis regulatory element in both activation of exon IIIb and repression of exon IIIc splicing in epithelial
Oxford University Press.
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11. A "string-of-beads" vaccine, comprising linked minigenes, confers protection from lethal-dose virus challenge.
We have previously demonstrated that induction of antiviral cytotoxic T lymphocytes (CTL), in the absence of antiviral antibodies, can confer protection against a lethal-dose virus challenge. Here we extend those findings as follows. First, three discrete viral CTL epitopes expressed from minigenes encoding peptides as short as 12 amino acids can be recogniz
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12. Variable region genes for the immunoglobulin framework are assembled from small segments of DNA—A hypothesis
Sequences of each of the four framework segments FR1, FR2, FR3, and FR4 of the variable regions (V-regions) of light and heavy chains of immunoglobulins were grouped into sets with identical sequences. Sets contained from 1 to 18 members. When each V-region was traced from one FR to the next, it was seen that members of the same set in FR1 could be associate