In a first article, Loeys et al describe a new aortic aneurysm syndrome characterized by the main triad of hypertelorism, bifid uvula and/or cleft palate and aortic aneurysms with arterial tortuosity. This new entity also presents with alterations of the skeletal, craniofacial, neurocognitve development. Importantly, the nature of the aortic aneurysms seems very aggressive and aneurysms occur throughout the arterial tree. In a collaboration between Johns Hopkins University in Baltimore and Ghent University in Belgium, it was demonstrated that this disease is caused by mutations in either of the genes encoding for transforming growth factor receptor 1 or 2 (TGFBR1 or 2).
In a second article, homozygosity mapping of a Senior-Loken family evaluated at the Ghent University led to the idenfication of a region on the long arm of chromosome 3. Researchers of the Ann Harbor University in Michigan went on to clone a new gene, nephrocystin-5, a ciliary IQ domain protein. Senior-Loken syndrome is characterized by the association of nephronophtisis and retinitis pigmentosa. These studies emphasize the central role of ciliary dysfunction in the pathogenesis of Senior-Loken syndrome.
Anne De Paepe | alfa
Ion treatments for cardiac arrhythmia — Non-invasive alternative to catheter-based surgery
20.01.2017 | GSI Helmholtzzentrum für Schwerionenforschung GmbH
Seeking structure with metagenome sequences
20.01.2017 | DOE/Joint Genome Institute
An important step towards a completely new experimental access to quantum physics has been made at University of Konstanz. The team of scientists headed by...
Yersiniae cause severe intestinal infections. Studies using Yersinia pseudotuberculosis as a model organism aim to elucidate the infection mechanisms of these...
Researchers from the University of Hamburg in Germany, in collaboration with colleagues from the University of Aarhus in Denmark, have synthesized a new superconducting material by growing a few layers of an antiferromagnetic transition-metal chalcogenide on a bismuth-based topological insulator, both being non-superconducting materials.
While superconductivity and magnetism are generally believed to be mutually exclusive, surprisingly, in this new material, superconducting correlations...
Laser-driving of semimetals allows creating novel quasiparticle states within condensed matter systems and switching between different states on ultrafast time scales
Studying properties of fundamental particles in condensed matter systems is a promising approach to quantum field theory. Quasiparticles offer the opportunity...
Among the general public, solar thermal energy is currently associated with dark blue, rectangular collectors on building roofs. Technologies are needed for aesthetically high quality architecture which offer the architect more room for manoeuvre when it comes to low- and plus-energy buildings. With the “ArKol” project, researchers at Fraunhofer ISE together with partners are currently developing two façade collectors for solar thermal energy generation, which permit a high degree of design flexibility: a strip collector for opaque façade sections and a solar thermal blind for transparent sections. The current state of the two developments will be presented at the BAU 2017 trade fair.
As part of the “ArKol – development of architecturally highly integrated façade collectors with heat pipes” project, Fraunhofer ISE together with its partners...
19.01.2017 | Event News
10.01.2017 | Event News
09.01.2017 | Event News
20.01.2017 | Awards Funding
20.01.2017 | Materials Sciences
20.01.2017 | Life Sciences