Intron Splice Site
Mostrando 1-12 de 493 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. Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations
Campomelic dysplasia (CD) is an autosomal, dominantly inherited, skeletal abnormality belonging to the subgroup of bent bone dysplasias. In addition to bowed lower limbs, CD typically includes the following: disproportionate short stature, flat face, micrognathia, cleft palate, bell-shaped thorax, and club feet. Up to three quarters of 46, XY individuals may
Genet. Mol. Biol.. Publicado em: 2015-03
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3. Utilização do Intron Splice Site primer EI-1 na discriminação de leveduras contaminantes do processo de fermentação alcoólica
Neste trabalho, utilizamos o Intron Splice Site primer EI-1 para a análise do perfil de amplificação de diferentes espécies de leveduras consideradas contaminantes no processo de fermentação alcoólica, originadas de uma destilaria no Estado da Paraíba na safra 2004/2005. Foram realizadas as etapas analíticas para discriminação molecular das levedu
Food Science and Technology. Publicado em: 2010-09
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4. cap20 gene pathogenicity in Colletotrichum gloeosporioides of the isolates / Gene de patogenicidade cap20 em isolados de Colletotrichum gloeosporioides
The early event for the penetration in some Colletotrichum species, iniciates with conidium adesion and germination on the surface of the host plant, producing germinative tube and then forming the apressorium, wich penetrates directly in the cuticle. Previous studies have identified in Colletotrichum gloeosporioides genes called cap, wich are only expressed
Publicado em: 2008
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5. CaracterizaÃÃo molecular (PCR) e infecÃÃo de Metarhizium anisopliae var. acridum e Metarhizium anisopliae var. anisopliae EM Zaprionus indianus / Molecular Characterization (PCR) and infection Metarhizium anisopliae var. acridum e Metarhizium anisopliae var. anisopliae EM Zaprionus indianus
The Metarhizium anisopliae var. acridum and M. anisopliae var. anisopliae strains were analysed for the pathogenicity to the fly Zaprionus indianus, using the concentrations 104, 105, 106, 107, 108 conidia/mL, considering the percentage of adultsâ emergency. In agreement with the used methodology, it was verified that both fungi strains presented action aga
Publicado em: 2006
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6. CaracterizaÃÃo molecular de espÃcies de Metarhizium e patogenicidade sobre Diatraea saccharalis / Molecular characterization of Metarhizium and pathogenicity on Diatraea saccharalis
Fifteen Metarhizium strains isolated from different areas and hosts were analysed upon genetic characteristics and 7 strains upon the pathogenicity to Diatraea saccharalis. The ITS (Internal Transcrided Spacer) molecular markers of rDNA, Intron splice site primer, RAPD and Microsatelite (SSR-Simple Sequence Repeats) were used to evaluate the genetic diversit
Publicado em: 2005
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7. Variabilidade genética em espécies de Fusarium solani revelada pela técnica de impressão genética baseada em marcadores PCR
O fungo Fusarium solani (teleomorfo Haematonectria haematococca) apresenta uma expressiva importância na agricultura por ser considerado patógeno para várias culturas de interesse econômico causando doença conhecida por podridão das raízes, além de ser patógeno aos animais e ao homem, provocando nestes últimos, micoses superficiais e sistêmicas. A
Brazilian Journal of Microbiology. Publicado em: 2004-09
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8. Analysis of the genetic diversity using molecular markers is characteristic cytomorfological in Colletotrichum gloeosporioides / AnÃlise da diversidade genÃtica atravÃs de marcadores moleculares e caracterÃsticas citomorfolÃgicas de Colletotrichum gloeosporioides
Foram analisadas 20 linhagens de C. gloeosporioides quanto Ãs caracterÃsticas genÃticas e citomorfolÃgicas. Os marcadores moleculares, RAPD, microssatÃlites, Intron Spice Site Primer e regiÃo ITS do DNA ribossomal, foram utilizados para avaliar a diversidade genÃtica entre as linhagens. A anÃlise de agrupamento atravÃs do mÃtodo UPGMA confirmou a d
Publicado em: 2004
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9. Estudo genetico-molecular da doença granulomatosa cronica
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency characterized by ear1y onset recurrent severe infections. The molecular defects causing CGD are generally due to the absence, low expression or malfunctioning of one of the NADPH oxidase components. This work analyzed the potential use of reverse transcription (RT)PCR for screening molecu
Publicado em: 2004
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10. Determinação das alterações moleculares em pacientes com deficiencia de proteina C
Protein C is the central component of an important natural system of antithrombotic regulation. 1t is a pIasmatic vitamin-K dependent glicoprotein that acts degrading proteolitycal1y the procoagulant active factors V and vrn. In addition, protein C stimulates fibrinolysis through the fonnation of a complex with plasminogen activator inhibitor (PAI). The here
Publicado em: 1999
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11. Factors affecting authentic 5' splice site selection in plant nuclei.
To define elements critical for 5' splice selection in dicot plant nuclei, wild-type and mutant transcripts containing the first intron of the pea rbcS3A gene were expressed in vivo by using an autonomously replicating plant expression vector. Mutations within the normal 5' splice site (+1) of this intron demonstrate that 5' splice sites at the normal exon-i
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12. 3' splice site selection in dicot plant nuclei is position dependent.
In contrast to mammalian and yeast systems, the mechanism for intron recognition and splice site selection in plant pre-mRNAs is poorly understood. Splice site sequences and putative branchpoint sequences are loosely conserved in plant introns compared with other eukaryotes. Perhaps to compensate for these variations, plant introns are significantly richer i