Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndrome.

The genetic dissection of the phenotypes associated with Williams-Beuren Syndrome (WBS) is advancing thanks to the study of individuals carrying typical or atypical structural rearrangements, as well as in vitro and animal studies. However, little is known about the global dysregulations caused by the WBS deletion. We profiled the transcriptomes of skin fibroblasts from WBS patients and compared them to matched controls. We identified 868 differentially expressed genes that were significantly enriched in extracellular matrix genes, major histocompatibility complex (MHC) genes, as well as genes in which the products localize to the postsynaptic membrane. We then used public expression datasets from human fibroblasts to establish transcription modules, sets of genes coexpressed in this cell type. We identified those sets in which the average gene expression was altered in WBS samples. Dysregulated modules are often interconnected and share multiple common genes, suggesting that intricate regulatory networks connected by a few central genes are disturbed in WBS. This modular approach increases the power to identify pathways dysregulated in WBS patients, thus providing a testable set of additional candidates for genes and their interactions that modulate the WBS phenotypes.

Henry Walter Bates: um viajante naturalista na Amazônia e o processo de transferência da informação

A partir do século XVII iniciou-se na Amazônia toda uma movimentação de viajantes/naturalistas atraídos pela biossociodiversidade dessa região dominada por uma floresta tropical. Henry Bates (1825-1892), estudioso de história natural, foi um deles, tendo, porém, se deslocado para o Norte do Brasil entre os anos de 1848 e 1859. Nesse contexto, o presente paper tem como objetivo analisar o processo de transferência das informações produzidas por esse viajante naturalista após 11 anos de trabalho de campo. A partir do material bibliográfico reunido para esse fim, verificou-se que tal processo foi bem-sucedido, como evidencia a ampla circulação das obras publicadas por Bates. Transcorridos 156 anos dessa expedição, a produção científica de Bates continua a participar do circuito acadêmico de produção de conhecimento sobre a Amazônia na contemporaneidade, qual seja no campo da biologia, da zoologia, da sociologia, da história ou da antropologia.

Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase.

Williams-Beuren syndrome (WBS) is a neurodevelopmental and multisystemic disease that results from hemizygosity of approximately 25 genes mapping to chromosomal region 7q11.23. We report here the preliminary description of eight novel genes mapping within the WBS critical region and/or its syntenic mouse region. Three of these genes, TRIM50, TRIM73 and TRIM74, belong to the TRIpartite motif gene family, members of which were shown to be associated to several human genetic diseases. We describe the preliminary functional characterization of these genes and show that Trim50 encodes an E3 ubiquitin ligase, opening the interesting hypothesis that the ubiquitin-mediated proteasome pathway might be involved in the WBS phenotype.

Basilikon dōron, ou Présent royal de Jaques premier, roy d'Angleterre, Escoce et Irlande, au prince Henry, son fils, contenant une instruction de bien régner . Traduit de l'anglois.

Titre original : His Majesties instructions to his dearest sonne, Henry the prince

Audit report on Henry County, Iowa for the year ended June 30, 2013

Audit report on Henry County, Iowa for the year ended June 30, 2013

Salon d'art décoratif moderne : [Catalogue] / [Couv.ill. par Henry de Waroquier]

[Exposition internationale. Gand. 1913]