Seminário Suporte à pesquisa e gestão de dados científicos: panorama atual e desafios, 1.: materiais de divulgação

Primeiro Seminário Suporte à pesquisa e gestão de dados científicos: panorama atual e desafios, realizado entre os dias 18 e 19 de setembro de 2017, no Auditório do Espaço Físico Integrado, da UFSC. Contém banner e folder produzidos para divulgação do evento, elaborados pela estagiária Aila Lima. Banner armazenado na arara 26 do arquivo deslizante da Memória Documental BU.PGCIN/UFSC e Biblioteca Universitária/UFSC

The 6 predicted pathogenic in the prioritized short list.

<p><b>Notes</b>: 1: Reference allele and alternative allele; 2: The maximal frequency of the alternative allele in one of reference datasets; 3: The 4850 curated gene sets from Curated gene sets from MSigDB 3.1 (<a href="http://www.broadinstitute.org/gsea/msigdb/genesets.jsp?collection=C2" target="_blank">http://www.broadinstitute.org/gsea/msigdb/genesets.jsp?collection=C2</a>) were used; 4: It is a posterior probability given their deleteriousness and functional scores and the prior probability 0.05.</p

Number of sequence variants after the step-by-step filtration and prioritization in KGGSeq.

<p><b>Notes</b>: 1: Dominant mode only considered with variants in heterozygous genotypes and with shared alleles between the two patients; 2: The rare variants referred to variants with MAF≤1% in the datasets; 3: This category includes missense, stopgain, stoploss and splicing single nucleotide variants and insertions/deletions causing frameshift, nonframeshift, stoploss, stopgain and splicing differences; 4: Knowledge-related variants/genes refer to those variants' genes having PPI(s) or sharing pathway(s) with at least one known causal gene of FSP and those variants fell into gene(s) which were co-mentioned in the titles or abstracts of papers in the PubMed database.</p

Identification of a Chinese family with autosomal dominant spastic paraplegia.

<p>(a) Pedigree. Filled and unfilled symbols indicate affected and unaffected individuals, respectively. Squares and circles represent males and females, respectively. Slashed symbols indicate deceased subjects. (b) DNA sequencing showing PMCA4 (or ATP2B4) R268Q mutation.</p

Computational modeling of R268Q ATP2B4 mutant protein.

<p>(a) Local tertiary molecular structure of, (b–i) wild-type and (b–ii) mutant PMCA4 (or ATP2B4) protein. The red dashed line denotes hydrogen bond.</p

Gene Network Analysis of Candidate Loci for Human Anorectal Malformations

<div><p>Anorectal malformations (ARMs) are birth defects that require surgery and carry significant chronic morbidity. Our earlier genome-wide copy number variation (CNV) study had provided a wealth of candidate loci. To find out whether these candidate loci are related to important developmental pathways, we have performed an extensive literature search coupled with the currently available bioinformatics tools. This has allowed us to assign both genic and non-genic CNVs to interrelated pathways known to govern the development of the anorectal region. We have linked 11 candidate genes to the WNT signalling pathway and 17 genes to the cytoskeletal network. Interestingly, candidate genes with similar functions are disrupted by the same type of CNV. The gene network we discovered provides evidence that rare mutations in different interrelated genes may lead to similar phenotypes, accounting for genetic heterogeneity in ARMs. Classification of patients according to the affected pathway and lesion type should eventually improve the diagnosis and the identification of common genes/molecules as therapeutic targets.</p></div

List of 11 candidate genes related to the WNT signalling pathway together with one candidate gene (<i>ECSIT</i>) related to Bmp signalling pathway.

<p>The functions of these genes were extracted from DAVID bioinformatics resources, NCBI Gene or literature. Positions listed are from UCSC version hg19. <i>N.D.</i>: not described in the clinical records. ^aType of CNV: DEL, deletion; DUP, duplication.</p

Candidate genes related to the cytoskeleton network.

<p>The relevance of the 17 candidate genes (in red: deleted; in blue: duplicated) to cytoskeleton network is displayed. Sample ID and phenotypes of the patients with gene disruptions are also listed. N: Northern Chinese; S: Southern Chinese.</p

Candidate genes related to WNT signalling pathway.

<p>The relevance of the 11 candidate genes (in red: deleted; in blue: duplicated) to WNT signalling pathway is displayed. Sample ID and phenotypes of the patients with gene disruptions are also listed. N: Northern Chinese; S: Southern Chinese.</p

Localization of C-terminally GFP-tagged EDNRB fusion proteins in HEK293 cells.

<p>A: HEK293 cells were transiently transfected with wild-type EDNRB isoform 1 (Iso 1) or mutant EDNRB isoform 1 (M1V). Signals were observed at the plasma membrane in cells expressing wild-type isform 1 while signals were detected in the cytosol in cells transfected with mutant isoform 1. B: HEK293 cells were transiently transfected with wild-type EDNRB isoform 3 (Iso 3) or mutant EDNRB isoform 3 (M91V). Signals were found in the cytosol in cells transfected with either wild-type or mutant isoform 3. C. HEK293 cells were transiently transfected with GFP vector only. Shown are the representative iamges. Bars, 50 µm.</p