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
Water forms 'spine of hydration' around DNA, group finds
26.05.2017 | Cornell University
How herpesviruses win the footrace against the immune system
26.05.2017 | Helmholtz-Zentrum für Infektionsforschung
Staphylococcus aureus is a feared pathogen (MRSA, multi-resistant S. aureus) due to frequent resistances against many antibiotics, especially in hospital infections. Researchers at the Paul-Ehrlich-Institut have identified immunological processes that prevent a successful immune response directed against the pathogenic agent. The delivery of bacterial proteins with RNA adjuvant or messenger RNA (mRNA) into immune cells allows the re-direction of the immune response towards an active defense against S. aureus. This could be of significant importance for the development of an effective vaccine. PLOS Pathogens has published these research results online on 25 May 2017.
Staphylococcus aureus (S. aureus) is a bacterium that colonizes by far more than half of the skin and the mucosa of adults, usually without causing infections....
Physicists from the University of Würzburg are capable of generating identical looking single light particles at the push of a button. Two new studies now demonstrate the potential this method holds.
The quantum computer has fuelled the imagination of scientists for decades: It is based on fundamentally different phenomena than a conventional computer....
An international team of physicists has monitored the scattering behaviour of electrons in a non-conducting material in real-time. Their insights could be beneficial for radiotherapy.
We can refer to electrons in non-conducting materials as ‘sluggish’. Typically, they remain fixed in a location, deep inside an atomic composite. It is hence...
Two-dimensional magnetic structures are regarded as a promising material for new types of data storage, since the magnetic properties of individual molecular building blocks can be investigated and modified. For the first time, researchers have now produced a wafer-thin ferrimagnet, in which molecules with different magnetic centers arrange themselves on a gold surface to form a checkerboard pattern. Scientists at the Swiss Nanoscience Institute at the University of Basel and the Paul Scherrer Institute published their findings in the journal Nature Communications.
Ferrimagnets are composed of two centers which are magnetized at different strengths and point in opposing directions. Two-dimensional, quasi-flat ferrimagnets...
An Australian-Chinese research team has created the world's thinnest hologram, paving the way towards the integration of 3D holography into everyday...
24.05.2017 | Event News
23.05.2017 | Event News
22.05.2017 | Event News
26.05.2017 | Life Sciences
26.05.2017 | Life Sciences
26.05.2017 | Physics and Astronomy