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
Molecular microscopy illuminates molecular motor motion
26.07.2017 | Penn State
New virus discovered in migratory bird in Rio Grande do Sul, Brazil
26.07.2017 | Fundação de Amparo à Pesquisa do Estado de São Paulo
Strong light-matter coupling in these semiconducting tubes may hold the key to electrically pumped lasers
Light-matter quasi-particles can be generated electrically in semiconducting carbon nanotubes. Material scientists and physicists from Heidelberg University...
Fraunhofer IPA has developed a proximity sensor made from silicone and carbon nanotubes (CNT) which detects objects and determines their position. The materials and printing process used mean that the sensor is extremely flexible, economical and can be used for large surfaces. Industry and research partners can use and further develop this innovation straight away.
At first glance, the proximity sensor appears to be nothing special: a thin, elastic layer of silicone onto which black square surfaces are printed, but these...
3-D shape acquisition using water displacement as the shape sensor for the reconstruction of complex objects
A global team of computer scientists and engineers have developed an innovative technique that more completely reconstructs challenging 3D objects. An ancient...
Physicists have developed a new technique that uses electrical voltages to control the electron spin on a chip. The newly-developed method provides protection from spin decay, meaning that the contained information can be maintained and transmitted over comparatively large distances, as has been demonstrated by a team from the University of Basel’s Department of Physics and the Swiss Nanoscience Institute. The results have been published in Physical Review X.
For several years, researchers have been trying to use the spin of an electron to store and transmit information. The spin of each electron is always coupled...
What is the mass of a proton? Scientists from Germany and Japan successfully did an important step towards the most exact knowledge of this fundamental constant. By means of precision measurements on a single proton, they could improve the precision by a factor of three and also correct the existing value.
To determine the mass of a single proton still more accurate – a group of physicists led by Klaus Blaum and Sven Sturm of the Max Planck Institute for Nuclear...
26.07.2017 | Event News
21.07.2017 | Event News
19.07.2017 | Event News
26.07.2017 | Physics and Astronomy
26.07.2017 | Life Sciences
26.07.2017 | Earth Sciences