|
|
|
|
| |
|
|
| Pedrazzoli,Mario; Secolin,Rodrigo; Esteves,Luiz Otávio Bastos; Pereira,Danyella Silva; Koike,Bruna Del Vechio; Louzada,Fernando Mazzili; Lopes-Cendes,Iscia; Tufik,Sergio. |
| Several studies have shown that mutations and polymorphisms in clock genes are associated with abnormal circadian parameters in humans and also with more subtle non-pathological phenotypes like chronotypes. However, there have been conflicting results, and none of these studies analyzed the combined effects of more than one clock gene. Up to date, association studies in humans have focused on the analysis of only one clock gene per study. Since these genes encode proteins that physically interact with each other, combinations of polymorphisms in different clock genes could have a synergistic or an inhibitory effect upon circadian phenotypes. In the present study, we analyzed the combined effects of four polymorphisms in four clock genes (Per2, Per3, Clock... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Clock genes; Gene interaction; Morningness-eveningness; Sleep; Circadian rhythm. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000400005 |
| |
|
|
| Borges,Murilo G.; Rocha,Cristiane S.; Carvalho,Benilton S.; Lopes-Cendes,Iscia. |
| Abstract For a better interpretation of variants, evidence-based databases, such as ClinVar, compile data on the presumed relationships between variants and phenotypes. In this study, we aimed to analyze the pattern of sequencing depth in variants from whole-exome sequencing data in the 1000 Genomes project phase 3, focusing on the variants present in the ClinVar database that were predicted to affect protein-coding regions. We demonstrate that the distribution of the sequencing depth varies across different sequencing centers (pair-wise comparison, p < 0.001). Most importantly, we found that the distribution pattern of sequencing depth is specific to each facility, making it possible to correctly assign 96.9% of the samples to their sequencing center.... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Whole exome sequencing; Depth; ClinVar; Computational biology; Clinical genomics. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400804 |
| |
|
|
| Lopes-Cendes,Iscia; Teive,Hélio G.A.; Cardoso,Francisco; Viana,Erika M.; Calcagnotto,Maria E.; Costa,Jaderson C. da; Trevisol-Bittencourt,Paulo C.; Maciel,Jayme A.; Rousseau,Marylene; Santos,André S.; Araújo,Abelardo Q.C.; Rouleau,G.A.. |
| Machado-Joseph disease (MJD) is a form of autosomal dominant spinocerebellar ataxia first described in North-American patients originating from the Portuguese islands of the Azores. Clinically this disorder is characterized by late onset progressive ataxia with associated features, such as: ophthalmoplegia, pyramidal and extrapyramidal signs and distal muscular atrophies. The causative mutation is an expansion of a CAG repeat in the coding region of the MJD1 gene. We have identified 25 unrelated families segregating the MJD mutation during a large collaborative study of spinocerebellar ataxias in Brazil. In the present study a total of 62 family members were genotyped for the CAG repeat in the MJD1 gene, as well as 63 non-MJD individuals (126 normal... |
| Tipo: Info:eu-repo/semantics/article |
|
| Ano: 1997 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-84551997000400026 |
| |
|
|
| Pereira,Tiago Campos; Bittencourt,Vinícius D'Ávila Pascoal; Secolin,Rodrigo; Rocha,Cristiane de Souza; Maia,Ivan de Godoy; Lopes-Cendes,Iscia. |
| The RNA interference (RNAi) technique is a recent technology that uses double-stranded RNA molecules to promote potent and specific gene silencing. The application of this technique to molecular biology has increased considerably, from gene function identification to disease treatment. However, not all small interfering RNAs (siRNAs) are equally efficient, making target selection an essential procedure. Here we present Strand Analysis (SA), a free online software tool able to identify and classify the best RNAi targets based on Gibbs free energy (deltaG). Furthermore, particular features of the software, such as the free energy landscape and deltaG gradient, may be used to shed light on RNA-induced silencing complex (RISC) activity and RNAi mechanisms,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: RNAi; SiRNA; SiRNA design; Software. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000600030 |
| |
|
|
| Dogini,Danyella Barbosa; Pascoal,Vinícius D'Avila Bittencourt; Avansini,Simoni Helena; Vieira,André Schwambach; Pereira,Tiago Campos; Lopes-Cendes,Iscia. |
| One of the major developments that resulted from the human genome sequencing projects was a better understanding of the role of non-coding RNAs (ncRNAs). NcRNAs are divided into several different categories according to size and function; however, one shared feature is that they are not translated into proteins. In this review, we will discuss relevant aspects of ncRNAs, focusing on two main types: i) microRNAs, which negatively regulate gene expression either by translational repression or target mRNA degradation, and ii) small interfering RNAs (siRNAs), which are involved in the biological process of RNA interference (RNAi). Our knowledge regarding these two types of ncRNAs has increased dramatically over the past decade, and they have a great potential... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Non-coding RNAs; MicroRNAs; RNA interferance; RNA-based drugs. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200014 |
| |
|
|
|
