Abstract:
:With the advance and popularization of molecular techniques, the identification of genetic mutations that cause diseases has increased dramatically. Thus, the number of laboratories available to investigate a given disorder and the number of subsequent diagnosis have increased over time. Although it is necessary to identify mutations and provide diagnosis, it is also critical to develop specific therapeutic approaches based on this information. This review aims to highlight recent advances in mutation-targeted therapies with chemicals that mitigate mutational pathology at the molecular level, for disorders that, for the most part, have no effective treatment. Currently, there are several strategies being used to correct different types of mutations, including the following: the identification and characterization of translational readthrough compounds; antisense oligonucleotide-mediated splicing redirection; mismatch repair; and exon skipping. These therapies and other approaches are reviewed in this paper.
journal_name
An Acad Bras Ciencjournal_title
Anais da Academia Brasileira de Cienciasauthors
Velho RV,Sperb-Ludwig F,Schwartz IVdoi
10.1590/0001-3765201520140711subject
Has Abstractpub_date
2015-08-01 00:00:00pages
1375-88issue
2 Suppleissn
0001-3765issn
1678-2690pii
S0001-37652015005040711journal_volume
87pub_type
杂志文章,评审abstract::The infrared spectrum (amide I' region) of Kunitz soybean trypsin inhibitor (SBTI) was obtained in D2O solution and resolved into Gaussian components. A prominent broad band centered at 1643 cm-1 is shown on the unresolved spectrum, which is usually assigned to N-deuterated peptide groups in an unordered structure, si...
journal_title:Anais da Academia Brasileira de Ciencias
pub_type: 杂志文章
doi:
更新日期:1989-01-01 00:00:00
abstract::We establish a method for giving lower bounds for the fundamental tone of elliptic operators in divergence form in terms of the divergence of vector fields. We then apply this method to the Lr operator associated to immersed hypersurfaces with locally bounded (r + 1)-th mean curvature Hr + 1 of the space forms Nn+ 1(c...
journal_title:Anais da Academia Brasileira de Ciencias
pub_type: 杂志文章
doi:10.1590/s0001-37652006000300001
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abstract::Since William James (1890) first distinguished primary from secondary memory, equivalent to short- and long-term memory, respectively, it has been assumed that short-term memory processes are in charge of cognition while long-term memory is being consolidated. From those days a major question has been whether short-te...
journal_title:Anais da Academia Brasileira de Ciencias
pub_type: 杂志文章,评审
doi:10.1590/s0001-37652000000300009
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abstract::We evaluated an artificial tritrophic exposure system for use in ecotoxicological evaluations of environmental stressors on aphidophagous predators. It consists of an acrylic tube with a Parafilm M sachet containing liquid aphid diet, into which can be added environmental stressors. Immature Cycloneda sanguinea, Harmo...
journal_title:Anais da Academia Brasileira de Ciencias
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abstract::Terrestrial impact structures are geological and geomorphological features with particular importance to understand the history and evolution of the planet. Impact structures are scattered around the world but in many countries these features are under threat, essentially due to anthropic factors. Impact structures wi...
journal_title:Anais da Academia Brasileira de Ciencias
pub_type: 杂志文章
doi:10.1590/0001-3765201720160081
更新日期:2017-04-01 00:00:00
abstract::Two-year trials (20062007) suggested that the use of calcium oxide (CaO) on acid soils increased soil pH and yields in strawberry cultivars Marmolada, Selena and Senga Sengana, under the environmental conditions of Cacak (Western Serbia). The highest yield was obtained when CaO was applied at 750 kg ha-1 rate. Further...
journal_title:Anais da Academia Brasileira de Ciencias
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abstract::It is known that hormones influence significantly the prostate tissue. However, we reported that mating induces an increase in androgen receptors, revealing a neural influence on the gland. These data suggested that somatic afferents (scrotal and genitofemoral nerves) and autonomic efferents (pelvic and hypogastric ne...
journal_title:Anais da Academia Brasileira de Ciencias
pub_type: 杂志文章
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abstract::Tissue engineering holds as a prominent technique to repair or replace the damaged human parts to recreate its native function. In this research, a novel scaffold based on polyurethane (PU) comprising megni oil was electrospun for tissue engineering applications. The obtained polyurethane blended with megni oil nanofi...
journal_title:Anais da Academia Brasileira de Ciencias
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abstract::Rotifers have often been used as indicators of sudden changes in physical and chemical features of the aquatic environment. Such features vary greatly during flood pulse events in small lakes connected to major floodplains. However, few are the studies that investigate the consequences of the flood pulse in rotifer sp...
journal_title:Anais da Academia Brasileira de Ciencias
pub_type: 杂志文章
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更新日期:2014-09-01 00:00:00
abstract::Cynodonts represent the transition from reptiles to mammals. They are classified as synapsids, or tetrapod animals with mammalian characteristics. We present here the finding of helminth eggs in a coprolite identified as of cynodont origin dated of nearly 240 million years. Microscopy revealed the presence of very wel...
journal_title:Anais da Academia Brasileira de Ciencias
pub_type: 杂志文章
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abstract::In order to produce transgenic goats with hG-CSF, a total of 24 adult Saanen and 48 adult undefined breed goats were used as donors and recipients, respectively. Donors were estrus-synchronized with vaginal sponges and superovulated by a treatment with 200 mg FSH given twice daily in decreasing doses over 3 days start...
journal_title:Anais da Academia Brasileira de Ciencias
pub_type: 杂志文章
doi:10.1590/s0001-37652007000400003
更新日期:2007-12-01 00:00:00
abstract::Epigeic coleopteran species are linked by complex trophic webs and implicated in several ecosystem services for agriculture. Although there are reports of ground-dwelling Coleopterans inhabiting main extensive agroecosystems, their assemblages in horticultural crops in Argentina have been little explored. We examined ...
journal_title:Anais da Academia Brasileira de Ciencias
pub_type: 杂志文章
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更新日期:2020-01-01 00:00:00
abstract::In the present work, we report the synthesis and characterization of five (4-alkylalmino-4'-fluoro)-diphenyl sulphones, four of which have not been described before. In a preliminary evaluation of their biological activity, these products showed no effect on several Gram-positive and Gram-negative bacteria and yeasts....
journal_title:Anais da Academia Brasileira de Ciencias
pub_type: 杂志文章
doi:
更新日期:1996-01-01 00:00:00
abstract::Programs of Science and Technology research have grown significantly in Brazil over the last decades. Until the 1980s the so-called undirected programs, without specific goals and requiring only scientific merit, prevailed. The few programs with defined goals in this period were never objectively assessed. The same si...
journal_title:Anais da Academia Brasileira de Ciencias
pub_type: 杂志文章
doi:10.1590/s0001-37652007000300014
更新日期:2007-09-01 00:00:00
abstract::In this study, geochemical and particle size analyses of thirty-four street sediment samples collected from an urban environment around Guanabara Bay, shows highway run-off to be a potential source of heavy metals for the pollution of near-shore sedimentary deposits. Concentrations of Fe, Mn, Zn, Cu, Pb, Cr and Ni wer...
journal_title:Anais da Academia Brasileira de Ciencias
pub_type: 杂志文章
doi:10.1590/s0001-37652007000400013
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abstract::Coronary artery calcification is an early marker of subclinical atherosclerosis, but little research has been done in asymptomatic individuals under 45 years. In this cohort study with 17 years of follow-up, 155 participants were assessed in 2016 with a coronary calcium score for the association with cardiovascular ri...
journal_title:Anais da Academia Brasileira de Ciencias
pub_type: 杂志文章
doi:10.1590/0001-3765201820180052
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abstract::Proteolytic enzymes have a fundamental role in many biological processes and are associated with multiple pathological conditions. Therefore, targeting these enzymes may be important for a better understanding of their function and development of therapeutic inhibitors. Fluorescence Resonance Energy Transfer (FRET) pe...
journal_title:Anais da Academia Brasileira de Ciencias
pub_type: 杂志文章,评审
doi:10.1590/s0001-37652009000300005
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abstract::Four new N-alkyl-2-mercapto-1-octylamine hydrochlorides were synthesized via the reaction of 1,2-epithio-octane with corresponding amines following by conversion to the hydrochlorides. The disulfides were obtained by oxidation of the respective thiols. Upon biological assay of the products for activity against infecti...
journal_title:Anais da Academia Brasileira de Ciencias
pub_type: 杂志文章
doi:
更新日期:1986-12-01 00:00:00
abstract::The genus Leuconostoc belongs to a group of lactic acid bacteria usually isolated from fermented vegetables, which includes species involved in the production of exopolysaccharides (EPS). These biopolymers possess considerable commercial potential. Because of the wide variety of industrial applications of EPS, this st...
journal_title:Anais da Academia Brasileira de Ciencias
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doi:10.1590/s0001-37652012000200018
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journal_title:Anais da Academia Brasileira de Ciencias
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journal_title:Anais da Academia Brasileira de Ciencias
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abstract::The South American Pleistocene mammal fauna includes great-sized animals that have intrigued scientists for over two centuries. Here we intend to update the knowledge on its palaeoecology and provide new evidence regarding two approaches: energetics and population density and relative abundance of fossils per taxa. To...
journal_title:Anais da Academia Brasileira de Ciencias
pub_type: 杂志文章
doi:10.1590/0001-3765201420120010
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abstract::Lutzomyia longipalpis is the most important vector of AmericanVisceral Leishmaniasis (AVL) due to Leishmania chagasi in the New World. Despite its importance, AVL, a disease primarily of rural areas, has increased its prevalence and became urbanized in some large cities in Brazil and other countries in Latin America. ...
journal_title:Anais da Academia Brasileira de Ciencias
pub_type: 杂志文章,评审
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abstract::The aim of this work was to investigate the phenolic content and antioxidant capacity of infusions of commercial herb samples (fennel, anise, peppermint, lemon grass and lemon balm) popularly consumed in Brazil. The infusion preparation for phenolic extraction was optimized using multivariate planning. Spectrophotomet...
journal_title:Anais da Academia Brasileira de Ciencias
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abstract::Drought is a natural and recurrent phenomenon. It is considered 'a natural disaster' whenever it occurs in an intensive manner in highly populated regions, resulting in significant damage (material and human) and loss (socioeconomic). This paper presents the efforts developed to monitor the impact of drought in the se...
journal_title:Anais da Academia Brasileira de Ciencias
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更新日期:2019-01-01 00:00:00
abstract::Observations on the ecology of silvatic Triatominae are still fragmentary, principally because target species in control process are almost exclusively domestic. Report of silvatic species invading human dwellings must lead research to be focused on their original ecology, in order to assist in understanding their pro...
journal_title:Anais da Academia Brasileira de Ciencias
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abstract::The golden mussel, Limnoperna fortunei, is among the most devastating invasive species in freshwater habitats worldwide, leading to severe environmental disturbances and economic losses. Therefore, management efforts would be greatly improved by methods that efficiently detect and quantify the abundance of the golden ...
journal_title:Anais da Academia Brasileira de Ciencias
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abstract::Miconazole is reduced at mercury electrode above pH 6 involving organometallic compound formation, responsible for an anomalous polarographic behavior. The electrodic process presents a large contribution of the adsorption effects. The drug can be determined by cathodic stripping voltammetry from 8.0 x 10(-8) to 1, 5 ...
journal_title:Anais da Academia Brasileira de Ciencias
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doi:10.1590/s0001-37652002000300005
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abstract::In this paper, we prove that the dimension of the second space of reduced L2 cohomology of M is finite if is a complete noncompact hypersurface in a sphere ...
journal_title:Anais da Academia Brasileira de Ciencias
pub_type: 杂志文章
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更新日期:2016-10-01 00:00:00
abstract::In the adult organism, angiogenesis is restricted to a few physiological conditions. On the other hand, uncontrolled angiogenesis have often been associated to angiogenesis-dependent pathologies. A variety of animal models have been described to provide more quantitative analysis of in vivo angiogenesis and to charact...
journal_title:Anais da Academia Brasileira de Ciencias
pub_type: 杂志文章
doi:10.1590/0001-3765201378011
更新日期:2013-01-01 00:00:00