Dysregulation of FOXG1 by ring chromosome 14

In this study we performed molecular characterization of a patient with an extra ring chromosome derived from chromosome 14, with severe intellectual disability, epilepsy, cerebral paresis, tetraplegia, osteoporosis and severe thoraco-lumbal scoliosis. Array CGH analysis did not show any genomic imbalance but conventional karyotyping and FISH analysis revealed the presence of an interstitial 14q12q24.3 deletion and an extra ring chromosome derived from the deleted material. The deletion and ring chromosome breakpoints were identified at base-pair level by mate-pair and Sanger sequencing. Both breakpoints disrupted putative long non-coding RNA genes (TCONS00022561;RP11-148E17.1) of unknown function. However, the proximal breakpoint was 225 kb downstream of the forkhead box G1 gene (FOXG1), within the known regulatory landscape of FOXG1. The patient represents the first case of a r(14) arising from an interstitial excision where the phenotype is compatible with dysregulation of FOXG1. In turn, the phenotypic overlap between the present case, the FOXG1 syndrome and the r(14) syndrome supports that dysregulation of FOXG1 may contribute to the classical r(14)-syndrome, likely mediated by dynamic mosaicism

I consorzi: stato dell'arte e possibili evoluzioni verso modelli strategici di lungo periodo

Il contributo prende in esame la realtà della cooperazione bibliotecaria in Italia e, in particolare, le esperienze consortili di ambito accademico maturate dai tre consorzi interuniversitari italiani CIBER, CILEA e CIPE. Il testo evidenzia anche l'importanza delle recenti prospettive di cooperazione nazionale avviate con i progetti della Conferenza dei Rettori che favoriranno la riflessione su nuovi modelli strategici dei consorzi e le iniziative a sostegno dell'accesso aperto

I sistemi bibliotecari di Ateneo in Sicilia: l'esperienza di Messina

breve storia del Sistema Bibliotecario di Ateneo di Messin

Open Access to scholarly literature: what your elders havenÂ’t told you

There are some key-issues regarding open access which researchers must be aware of, as P. Suber recently stated. If the aim of Open Access is to free up research through alternative channels that increase its impact and the dissemination of its output, then authors are the means and the ends of this process. Therefore, the academic community must gain a clear understanding of the open access tools at their disposal in every field, i.e. OA journals, OA repositories and the policies of academic publishers re pre and post-print submissions. Finally, authors should be aware of the "intangible benefits" that open access brings them in terms of visibility, prestige and impact

Dalla crisi della comunicazione scientifica alle strategie Open Access: nuovi modelli di circolazione del sapere

The "serial pricing crisis" that has hit the Scholarly Communication system generated a great deal of initiatives and projects designed to transform radically the ways in which knowledge circulates. The first reaction to this crisis was new forms of cooperation between libraries which led to the creation of consortia for the shared purchasing of electronic resources. The academic community, resorting to sustainable electronic Publishing and Open Access to scientific literature, then sought new channels of communication able to satisfy the demand for widespread and rapid circulation of ideas and research findings. Open models of scientific communication achieved by the two strategies of "Open Access Publishing" and "Open Access Self-Archiving" represent an innovative approach that is capable of guaranteeing the dissemination of research literature. Some Open Access Journals, a new generation of freely accessible electronic periodicals, are already acclaimed. However, the affordability of their business model and their financial and other repercussions has generated a lively debate that still rages within the international community involved in the evolution of new models of Scholarly Communication

Morphological and cytological studies on Arceuthobium (Viscaceae) in relationship to host phloem with studies on the healthy phloem in Pinus sabiniana (Pinaceae)

Anatomical and developmental tissue relationships between Arceuthobium spp. endophytic tissues and host vascular tissues were examined by light and transmission electron microscopes. The host-parasite pairs studied were Psudotsuga menziesii/A. douglasii, Tsuga heterophylla/A. tsugense, Pinus sabiniana/A. occidentale, and P. lambertiana/A. californicum. The morphological form and growth characteristics of A. douglasii in different aged host tissues was found to be coordinated with growth and maturation of the host. It is proposed that morphological forms of Arceuthobium endophytic tissue be categorized as (1) primary, (2) diffuse-secondary, or (3) localized-secondary in order to semantically clarify the relationship of endophytic morphology with primary or secondary growth stages of host tissue. In localized-secondary endophytic forms, the parasite integrates with host rays to form multiseriate infected rays. At both the light and electron microscope level, parasite cells can usually be identified by their distinctive chromocentric nuclei and abundant lipid bodies or lipid ghosts. Sinker cells of Arceuthobium have unusual plastids which resemble etioplasts and which do not store starch. Sinker cells have distinctive mitochondria with unusually large nucleoid areas. They have abundant endoplasmic reticulum. Wall/plasmalemma specializations increase the membrane surface area in relation to cell volume in sinker cells. The walls of host and parasite are fused at the middle lamella common to both organisms and the organisms share a common apoplast. Pit-like regions in the fused walls of the host/parasite interface were commonly seen in light microscope studies, although such interspecific pitting is seen less than intraspecific pitting. It was determined that, whereas intraspecific pits are traversed by complete plasmodesmata, interspecific pits had no plasmatic channels, or, only half plasmodesmata on the host side of the pit. In one case a half plasmodesmata was seen on the Arceuthobium side of the host/parasite interface. On the basis of the electron microscope studies of the host/parasite interface it appears that plasmatic connections between host and parasite do not normally occur. Because of this plasmatic isolation it can be concluded that nutrient acquisition does not involve direct flow of nutrients via interspecific symplastic bridges. Therefore, photosynthate, normally housed within phloem cells, must be leaked into the common apoplast of both host and parasite before becoming available for absorption into the parasite symplast. Since host and parasite lack symplastic continuity but share a common apoplast, apoplastically-mobile herbicides should be tested for their ability to accumulate in parasite tissues. Cytopathological effects on the host cells were relatively mild although a significant increase in the ratio of radial to axillary vasculature was noted in infected tissue. Other modifications included a tendency for increased numbers of specialized phloem parenchyma (Strasburger cells) in infected rays. No apparent anomalies were observed in conjunction with host sieve cell structure and development. The structure and ontogeny of healthy P. sabiniana phloem was also studied. It was found that the sieve element reticulum (SER) of mature sieve cells is derived from plastids during the maturation of the sieve cell. After maturation some of the SER membranes seem to disassociate into individual 60 (ANGSTROM) fibrils. These fibrils then reassociate and appear to be condensed into paracrystalline bodies which, in turn, participate in the generation of new membranes in the mature sieve cell. Because of their plastid origin, the SER membranes may have energy transducing and ionic pump capabilities that commonly are associated with plastid membranes. Such specialized functions of SER may contribute to the translocating capacities of sieve cells

Biblioteca digitale e servizi di misurazione

Atti del convegno della 4. Giornata delle biblioteche siciliane svoltosi a Ragusa il 26 maggio 2006. A cura di Renato Meli. Sono state presentate le attivita' del Centro di Ateneo per le Biblioteche di Messina inerenti la Digital Library, l'Accesso Aperto e gli strumenti di misurazione dei servizi erogati

La "buona scienza": tra principi e istruzioni per l'uso

Presentazione a supporto dell'intervento nell’ambito del corso “Editoria in Open Journal” del dottorato di Ricerca in Scienze Cognitive erogato dal COSPECS | Dipartimento di Scienze cognitive, Psicologiche, Pedagogiche e degli Studi Cultural

Portali delle biblioteche digitali e CIBER: come migliorarsi?

The slides present an analysis of the italian library portals made by Ciber in May 2007. Focus of the study is to explore the way Electronic Resources are organized and accessed through library web sites or portals. Results show different quality levels in library portals. Authors stress the need to plan accurately contents and services of library portals in order to meet the manifold needs of library users. Suggestions are given in the presentation to foster a better organization of the ER in library portals