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
Novel mechanisms of action discovered for the skin cancer medication Imiquimod
21.10.2016 | Technische Universität München
Second research flight into zero gravity
21.10.2016 | Universität Zürich
Researchers from the Institute for Quantum Computing (IQC) at the University of Waterloo led the development of a new extensible wiring technique capable of controlling superconducting quantum bits, representing a significant step towards to the realization of a scalable quantum computer.
"The quantum socket is a wiring method that uses three-dimensional wires based on spring-loaded pins to address individual qubits," said Jeremy Béjanin, a PhD...
In a paper in Scientific Reports, a research team at Worcester Polytechnic Institute describes a novel light-activated phenomenon that could become the basis for applications as diverse as microscopic robotic grippers and more efficient solar cells.
A research team at Worcester Polytechnic Institute (WPI) has developed a revolutionary, light-activated semiconductor nanocomposite material that can be used...
By forcefully embedding two silicon atoms in a diamond matrix, Sandia researchers have demonstrated for the first time on a single chip all the components needed to create a quantum bridge to link quantum computers together.
"People have already built small quantum computers," says Sandia researcher Ryan Camacho. "Maybe the first useful one won't be a single giant quantum computer...
COMPAMED has become the leading international marketplace for suppliers of medical manufacturing. The trade fair, which takes place every November and is co-located to MEDICA in Dusseldorf, has been steadily growing over the past years and shows that medical technology remains a rapidly growing market.
In 2016, the joint pavilion by the IVAM Microtechnology Network, the Product Market “High-tech for Medical Devices”, will be located in Hall 8a again and will...
'Ferroelectric' materials can switch between different states of electrical polarization in response to an external electric field. This flexibility means they show promise for many applications, for example in electronic devices and computer memory. Current ferroelectric materials are highly valued for their thermal and chemical stability and rapid electro-mechanical responses, but creating a material that is scalable down to the tiny sizes needed for technologies like silicon-based semiconductors (Si-based CMOS) has proven challenging.
Now, Hiroshi Funakubo and co-workers at the Tokyo Institute of Technology, in collaboration with researchers across Japan, have conducted experiments to...
14.10.2016 | Event News
14.10.2016 | Event News
12.10.2016 | Event News
21.10.2016 | Health and Medicine
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21.10.2016 | Materials Sciences