Researchers from Newcastle University in the UK have ended a 15-year search for the gene that causes the rare Cornelia de Lange Syndrome. (CdLS).
CdLS affects just one in 40,000 live births but can be devastating, with affected youngsters having growth problems, missing or deformed limbs, gastro-intestinal disorders, seizures, cardiac problems, neurological, learning and behavioural difficulties and oro-dental issues.
Doctors in the USA and Europe knew that there was likely to be a rogue gene that caused the syndrome but despite more than 15 years of searching it hadn’t been found.
But there has now been a breakthrough by a team led by Professor Tom Strachan, at Newcastle University’s Institute of Human Genetics. They report in Nature Genetics that the gene has been located to chromosome five.
Alan Peaford | alfa
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Whether you call it effervescent, fizzy, or sparkling, carbonated water is making a comeback as a beverage. Aside from quenching thirst, researchers at the University of Illinois at Urbana-Champaign have discovered a new use for these "bubbly" concoctions that will have major impact on the manufacturer of the world's thinnest, flattest, and one most useful materials -- graphene.
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Physicists at the University of Bonn have managed to create optical hollows and more complex patterns into which the light of a Bose-Einstein condensate flows. The creation of such highly low-loss structures for light is a prerequisite for complex light circuits, such as for quantum information processing for a new generation of computers. The researchers are now presenting their results in the journal Nature Photonics.
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For the first time, scientists have shown that circular RNA is linked to brain function. When a RNA molecule called Cdr1as was deleted from the genome of mice, the animals had problems filtering out unnecessary information – like patients suffering from neuropsychiatric disorders.
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A study led by scientists of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science in Hamburg presents evidence of the coexistence of superconductivity and “charge-density-waves” in compounds of the poorly-studied family of bismuthates. This observation opens up new perspectives for a deeper understanding of the phenomenon of high-temperature superconductivity, a topic which is at the core of condensed matter research since more than 30 years. The paper by Nicoletti et al has been published in the PNAS.
Since the beginning of the 20th century, superconductivity had been observed in some metals at temperatures only a few degrees above the absolute zero (minus...
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