The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype

Substitutions, deletions and duplications in the dystrophin gene lead to either the severe Duchenne muscular dystrophy (DMD) or mild Becker muscular dystrophy depending on whether out-of-frame or in-frame transcripts are produced. We identified a DMD case (GSΔ44) where the correlation between genotype and phenotype is not respected, even if carrying a typical Duchenne mutation (exon 44 deletion) a Becker-like phenotype was observed. Here we report that in this patient, partial restoration of an in-frame transcript occurs by natural skipping of exon 45 and that this is due to the lack of Celf2a, a splicing factor that interacts with exon 45 in the dystrophin pre-mRNA. Several experiments are presented that demonstrate the central role of Celf2a in controlling exon 45 splicing; our data point to this factor as a potential target for the improvement of those DMD therapeutic treatments, which requires exon 45 skipping

Enabling RadLex with the Foundational Model of Anatomy Ontology to Organize and Integrate Neuro-imaging Data

In this study we focused on empowering RadLex with an ontological framework and additional content derived from the Foundational Model of Anatomy Ontology1 thereby providing RadLex the facility to correlate the different standards used in annotating neuroradiological image data. The objective of this work is to promote data sharing, data harmonization and interoperability between disparate neuroradiological labeling systems

Intelligent Queries over BIRN Data using the Foundational Model of Anatomy and a Distributed Query-Based Data Integration System

We demonstrate the usefulness of the Foundational Model of Anatomy (FMA) ontology in reconciling different neuroanatomical parcellation schemes in order to facilitate automatic annotation and “intelligent” querying and visualization over a large multisite fMRI study of schizophrenic versus normal controls

Magnetic quivers for rank 2 theories

In this note we construct magnetic quivers for the known rank-2 four dimensional $\mathcal{N}=2$ superconformal field theories. For every rank-1 theory one can find a unitary magnetic quiver; we observe that this is no longer possible at rank 2. Our list of magnetic quivers necessarily includes orthosymplectic quivers, in addition to unitary ones, of both the simply and non-simply laced variety. Using quiver subtraction, one can compute Higgs branch Hasse diagrams and compare with the results obtained via other methods finding nearly perfect agreement

The Divertor Tokamak Test facility proposal: Physical requirements and reference design

The main goal of the Divertor Tokamak Test facility (DTT) is to explore alternative power exhaust solutions for DEMO. The principal objective is to mitigate the risk of a difficult extrapolation to fusion reactor of the conventional divertor based on detached conditions under test on ITER. The task includes several issues, as: (i) demonstrating a heat exhaust system capable of withstanding the large load of DEMO in case of inadequate radiated power fraction; (ii) closing the gaps in the exhaust area that cannot be addressed by present devices; (iii) demonstrating how the possible implemented solutions (e.g., advanced divertor configurations or liquid metals) can be integrated in a DEMO device. In view of these goals, the basic physical DTT parameters have been selected according to the following guidelines: (i) edge conditions as close as possible to DEMO in terms of dimensionless parameters; (ii) flexibility to test a wide set of divertor concepts and techniques; (iii) compatibility with bulk plasma performance; (iv) an upper bound of 500 M€ for the investment costs. © 2017 The Author

Length functions on currents and applications to dynamics and counting

The aim of this (mostly expository) article is twofold. We first explore a variety of length functions on the space of currents, and we survey recent work regarding applications of length functions to counting problems. Secondly, we use length functions to provide a proof of a folklore theorem which states that pseudo-Anosov homeomorphisms of closed hyperbolic surfaces act on the space of projective geodesic currents with uniform north-south dynamics.Comment: 35pp, 2 figures, comments welcome! Second version: minor corrections. To appear as a chapter in the forthcoming book "In the tradition of Thurston" edited by V. Alberge, K. Ohshika and A. Papadopoulo