Splicing
Mostrando 1-12 de 3818 artigos, teses e dissertações.
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1. Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant
SUMMARY We present the unique case of an adult Brazilian woman with severe short stature due to growth hormone deficiency with a heterozygous G to T substitution in the donor splice site of intron 3 of the growth hormone 1 (GH1) gene (c.291+1G>T). In this autosomal dominant form of growth hormone deficiency (type II), exon 3 skipping results in expression of
Archives of Endocrinology and Metabolism. Publicado em: 2022
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2. Identification and Characterisation of Alternative Splice Variants of Hoxb9 and Their Correlation with Melanogenesis in the Black-Boned Chicken
ABSTRACT Homeobox B9 (HOXB9) gene has been demonstrated to be associated with melanogenesis in chicken plumage by high-throughput RNA sequencing. In this study, we cloned and characterised HOXB9 in black-boned chickens. Two alternative splice variants (HOXB9-1 and HOXB9-2) were identified in chicken feather bulbs. Expression analysis of HOXB9 in 11 differen
Braz. J. Poult. Sci.. Publicado em: 19/08/2019
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3. Numerical study of the behaviour of loop bar splicing in joints of reinforced concrete structures
Resumo Emendas com barras retas ocupam muito espaço devido ao comprimento de traspasse necessário. Dessa forma, em situações em que há uma limitação de espaço para a emenda, uma armação que constitui uma solução interessante é a emenda por meio de laço, que, apesar de ter poucos estudos relacionados, vem sendo bastante difundida na construção
Rev. IBRACON Estrut. Mater.. Publicado em: 2019-02
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4. Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl
Abstract 3-Methylcrotonylglycinuria is an organic aciduria resulting from deficiency of 3-methylcrotonyl-CoA carboxylase (3-MCC), a biotin-dependent mitochondrial enzym carboxylating 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA during leucine catabolism. Its deficiency, due to mutations on MCCC1 and MCCC2 genes, leads to accumulation of 3-methylcrotonyl-Co
Genet. Mol. Biol.. Publicado em: 14/05/2018
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5. Conserved number of U2 snDNA sites in Piabina argentea, Piabarchus stramineus and two Bryconamericus species (Characidae, Stevardiinae)
RESUMO A localização cromossômica dos genes de RNAr 5S e RNAsn U2 de Piabina argentea, Piabarchus stramineus e duas espécies de Bryconamericus provenientes de duas bacias hidrográficas foi investigada, com a intenção de contribuir com o entendimento de características evolutivas destes DNAs repetitivos na subfamília Stevardiinae. O número cromossô
Neotrop. ichthyol.. Publicado em: 26/03/2018
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6. Introns in Cryptococcus
In Cryptococcus neoformans, nearly all genes are interrupted by small introns. In recent years, genome annotation and genetic analysis have illuminated the major roles these introns play in the biology of this pathogenic yeast. Introns are necessary for gene expression and alternative splicing can regulate gene expression in response to environmental cues. I
Mem. Inst. Oswaldo Cruz. Publicado em: 19/02/2018
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7. Alternative splicing originates different domain structure organization of Lutzomyia longipalpis chitinases
BACKGROUND The insect chitinase gene family is composed by more than 10 paralogs, which can codify proteins with different domain structures. In Lutzomyia longipalpis, the main vector of visceral leishmaniasis in Brazil, a chitinase cDNA from adult female insects was previously characterized. The predicted protein contains one catalytic domain and one chiti
Mem. Inst. Oswaldo Cruz. Publicado em: 2018-02
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8. Minimum free energy predicted base pairing in the 39 nt spliced leader and 5’ UTR of calmodulin mRNA from Trypanosoma cruzi: influence of the multiple trans-splicing sites
ABSTRACT We analyzed the compositional changes and the stable base pairs in the predicted secondary structure of the 5’ UTR calmodulin mRNA in T. cruzi. The three copies of calmodulin in T. cruzi genome display variable position of the trans splicing sites and give rise to several mRNA that differs slightly on 5’ UTR composition in the epimastigote stage
An. Acad. Bras. Ciênc.. Publicado em: 16/10/2017
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9. Alternatively spliced MEFV transcript lacking exon 2 and its protein isoform pyrin-2d implies an epigenetic regulation of the gene in inflammatory cell culture models
Abstract The function of gene body DNA methylation in alternative splicing, and its relation to disease pathogenesis is not fully elucidated. The gene for familial Mediterranean fever (MEFV) encodes the pyrin protein and contains a 998 bp CpG island, covering the second exon, which is differentially methylated in FMF patients compared to healthy controls. Ou
Genet. Mol. Biol.. Publicado em: 31/08/2017
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10. Optimized Exon-Exon Junction Library and its Application on Rodents' Brain Transcriptome Analysis
ABSTRACT Background: Alternative splicing (AS), which plays an important role in gene expression and functional regulation, has been analyzed on genome-scale by various bioinformatic approaches based on RNA-seq data. Compared with the huge number of studies on mouse, the AS researches approaching the rat, whose genome is intermedia between mouse and human,
Braz. arch. biol. technol.. Publicado em: 02/05/2017
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11. Benchmarking pathway interaction network for colorectal cancer to identify dysregulated pathways
Different pathways act synergistically to participate in many biological processes. Thus, the purpose of our study was to extract dysregulated pathways to investigate the pathogenesis of colorectal cancer (CRC) based on the functional dependency among pathways. Protein-protein interaction (PPI) information and pathway data were retrieved from STRING and Reac
Braz J Med Biol Res. Publicado em: 30/03/2017
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12. Epigenetic modifications and their relation to caste and sex determination and adult division of labor in the stingless bee Melipona scutellaris
Abstract Stingless bees of the genus Melipona, have long been considered an enigmatic case among social insects for their mode of caste determination, where in addition to larval food type and quantity, the genotype also has a saying, as proposed over 50 years ago by Warwick E. Kerr. Several attempts have since tried to test his Mendelian two-loci/two-allele
Genet. Mol. Biol.. Publicado em: 02/03/2017