Informe d'Autors UOC a ISI Web of Knowledge. Setembre 2014

UOC

A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant

We investigated two siblings with granulomatous histiocytosis prominent in the nasal area, mimicking rhinoscleroma and Rosai-Dorfman syndrome. Genome-wide linkage analysis and whole-exome sequencing identified a homozygous frameshift deletion in SLC29A3, which encodes human equilibrative nucleoside transporter-3 (hENT3). Germline mutations in SLC29A3 have been reported in rare patients with a wide range of overlapping clinical features and inherited disorders including H syndrome, pigmented hypertrichosis with insulin-dependent diabetes, and Faisalabad histiocytosis. With the exception of insulin-dependent diabetes and mild finger and toe contractures in one sibling, the two patients with nasal granulomatous histiocytosis studied here displayed none of the many SLC29A3-associated phenotypes. This mild clinical phenotype probably results from a remarkable genetic mechanism. The SLC29A3 frameshift deletion prevents the expression of the normally coding transcripts. It instead leads to the translation, expression, and function of an otherwise noncoding, out-of-frame mRNA splice variant lacking exon 3 that is eliminated by nonsense-mediated mRNA decay (NMD) in healthy individuals. The mutated isoform differs from the wild-type hENT3 by the modification of 20 residues in exon 2 and the removal of another 28 amino acids in exon 3, which include the second transmembrane domain. As a result, this new isoform displays some functional activity. This mechanism probably accounts for the narrow and mild clinical phenotype of the patients. This study highlights the"rescue" role played by a normally noncoding mRNA splice variant of SLC29A3, uncovering a new mechanism by which frameshift mutations can be hypomorphic.

Informe d'Autors UOC a ISI Web of Knowledge. Octubre 2014

UOC

Informe d'Autors UOC a ISI Web of Knowledge. Novembre 2014

UOC

Informe d'Autors UOC a ISI Web of Knowledge. Desembre 2014

UOC

Online Volunteers : Knowledge Managers in Nonprofits

Peer-reviewed

An ontology to automated learning scenarios? an approach to its knowledge domain

Automation or semi-automation of learning scenariospecifications is one of the least exploredsubjects in the e-learning research area. There isa need for a catalogue of learning scenarios and atechnique to facilitate automated retrieval of stored specifications. This requires constructing anontology with this goal and is justified inthis paper. This ontology must mainlysupport a specification technique for learning scenarios. This ontology should also be useful in the creation and validation of new scenarios as well as in the personalization of learning scenarios or their monitoring. Thus, after justifying the need for this ontology, a first approach of a possible knowledge domain is presented. An example of a concrete learning scenario illustrates some relevant concepts supported by this ontology in order to define the scenario in such a way that it could be easy to automate.

Fostering Collaborative Knowledge Building by the Effective Provision of Knowledge about the Discussion Process

Peer-reviewed

Informe d'Autors UOC a ISI Web of Knowledge. Gener 2015

UOC

Informe d'Autors UOC a ISI Web of Knowledge. Febrer 2015

UOC

Does social capital reinforce technological inputs in the creation of knowledge? Evidence from the Spanish regions

In this paper we seek to verify the hypothesis that trust and cooperation between individuals, and between them and public institutions, can encourage technological innovation and the adoption of knowledge. Additionally, we test the extent to which the interaction of social capital with human capital and R&D expenditures improve their effect on a region’s ability to innovate. Our empirical evidence is taken from the Spanish regions and employs a knowledge production function and longitudinal count data models. Our results suggest that social capital correlates positively with innovation. Further, our analysis reveals a powerful interaction between human and social capital in the production of knowledge, whilst the complementarity with R&D efforts would seem less clear.

Knowledge misallocation and growth

We develop a growth model where knowledge is embodied in individuals and diffused across sectors through labor mobility. The existence of labor mobility costs constrains mobility and, thus, generates labor misallocation. Different levels of labor misallocation imply different levels of exploitation of available knowledge and, therefore, different total factor productivity across countries. We derive a positive relationship between growth and labor mobility, which is consistent with the empirical evidence, by assuming aggregate constant returns to capital. We also analyze the short and long run effects of labor mobility costs in the case of decreasing returns to capital. It turns out that changes in mobility costs have larger economic effects when different types of worker have small rather than large complementarities. Finally, we show that different labor income taxes or labor market tightness imply different rates of labor mobility and, therefore, can explain differences in Gross Domestic Product across countries.