130,629 research outputs found
Molecular basis of facioscapulohumeral muscular dystrophy
No full textFacioscapulohumeral muscular dystrophy (FSHD), the third most common myopathy, is an autosomal dominant disease with an insidious onset and progression. Almost all FSHD patients carry deletions of an integral number of tandem 3.3 kb repeats, termed D4Z4, located on chromosome 4q35. In FSHD patients a deletion of the integral number of D4Z4 repeats generates a fragment that is usually smaller than 35 kb (fewer than 11 repeats), whereas in normal controls the size usually ranges from 50 to 300 kb (between 11 and 150 units). D4Z4 is a repetitive element with heterochromatic features. Recently, 4q35 genes located upstream of D4Z4 have been found to be inappropriately overexpressed specifically in FSHD muscle. An element within D4Z4 has been shown to behave as a silencer that provides a binding site for a transcriptional repressing complex. These results suggest a model in which deletion of D4Z4 leads to the inappropriate transcriptional derepression of 4q35 genes, resulting in disease
Competenze e responsabilità: amministrare l’urbanistica oggi
No full textIl testo discute i modi nei quali si caratterizza e può esprimersi la competenza tecnica (urbanistica) all'interno dell'amministrazione pubblic
La lunga strada degli urbanisti
No full textUna rilettura del percorso dell'Associazione degli urbanisti (ASSURB) verso il riconoscimento del ruolo e la costruzione di un'identità del laureato in urbanistica
La reinvenzione del proprio ruolo
No full textIl testo restituisce criticamente l'esperienza dell'autore in qualità di Assessore all'Urbanistica, Città storica, Ambiente del Comune di Bologna dal 2011 al 201
Involvement of RB gene family in tumor angiogenesis
No full textAngiogenesis, the development of new blood vessels from pre-existing vessels, represents a fundamental step in tumor progression and metastatization. The induction of vasculature is required for growth of the tumor mass, to ensure an adequate supply of oxygen and metabolites to the tumor beyond a critical size. Tumor angiogenesis is a highly regulated process that is controlled physiologically by the tumor microenvironment and genetically by alteration of several oncogenes or tumor suppressor genes. We will focus on recent demonstrations regarding the involvement of the retinoblastoma family proteins (phosphorylated retinoblastoma (pRb), p107 and pRb2/p130) at different levels of the angiogenic process. pRb and its homologs can regulate the expression of pro- and antiangiogenic factors, such as the vascular endothelial growth factor, through an E2F-dependent mechanism. Moreover, pRb is able to modulate also the transcriptional activity of several angiogenesis-related factors like HIF-1, Id2 and Oct-1. pRb2/p130 is required for both differentiation and mobilization of bone marrow-derived endothelial cell precursors and endothelial sprouting from neighboring vessels. The involvement of the pRb pathway in the angiogenesis process has also been demonstrated by different cellular models expressing viral oncoproteins, like human papilloma virus. Moreover, some natural and synthetic compounds demonstrate their antiangiogenetic activity with a mechanism of action involving pRb. Finally, the possible prognostic value of immunohistochemical evaluation of pRb and/or pRb2/p130 expression can represent a useful tool for the characterization of the angiogenic phenotype of specific tumor histotypes. © 2006 Nature Publishing Group All rights reserved
Extraordinary Results Through Everyday Work
No full textUna riflessione critica sull'esperienza dell'autrice in qualità di assessore all'Urbanistica, Città storica, Ambiente nel Comune di Bologna (2011-2016), mentre era ancora in corso
When Enough is Enough: Genetic Diseases Associated with Transcriptional Derepression.
No full textFor many human genetic diseases, the underlying geneticdefect has been determined. Thus, although traditionally afield only for researchers in medicine or human genetics,human diseases are now opening up to molecular biologists,cell biologists and biochemists. Here we discuss four humangenetic disorders, Familial Alzheimer’s disease, Rett syndrome,Klippel—Trenaunay syndrome and Facioscapulohumeralmuscular dystrophy, and how investigations into these diseasesare providing important lessons about human biology
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