A dysfunction of a certain Calcium channel, the so called P/Q-type channel, in neurons of the cerebellum is sufficient to cause different motor diseases as well as a special type of epilepsy. This is reported by the research team of Dr. Melanie Mark and Prof. Dr. Stefan Herlitze from the Ruhr-Universität Bochum. They investigated mice that lacked the ion channel of the P/Q-type in the modulatory input neurons of the cerebellum. "We expect that our results will contribute to the development of treatments for in particular children and young adults suffering from absence ...

PROVIDENCE, R.I. [Brown University] — A new study finds that two genes individually associated with rare autism-related disorders are also jointly linked to more general forms of autism. The finding suggests a new genetic pathway to investigate in general autism research. The genes encode the proteins NHE6 and NHE9, which are responsible for biochemical exchanges in the endosomes of cells. Mutations in the NHE6 gene are a direct cause of Christianson Syndrome, while mutations in the NHE9 gene lead to a severe form of autism with epilepsy. In the new study, a statistical ...

"We are very excited, we are finally seeing the concrete results of so many years of hard work". This is how the scientists of the Planck project have commented the first data resulting from the observations carried out by Planck. The mission of the ESA satellite is to observe the past of our Universe, going back in time and reaching the very first instant right after the Big Bang. The image that the Planck scientists convey today is that of a 'child' Universe, dating back to about 380,000 years after the Big Bang, when its temperature was similar to that of the most external ...

The two endangered fish species, Squalius aradensis and S. torgalensis, most generally belong to the Cyprinidae, or the carp family. This is the largest fish, and vertebrate family, formed of freshwater fish with a diversity of more than 2,400 species. The family also has an important economic value as a food source. More specifically, the two species studied are members of the subfamily Leuciscinae, formed of small freshwater fish commonly known as minnows. A new genetic study of the two endangered fish was recently published in the open access journal Comparative Cytogenetics. S. ...

"Are there genetic risk factors for PCa? Yes, and BRCA2 and HOXB13 are useful for predicting high-risk disease," said Jack Cuzick (GB) president of the International Society for Cancer Prevention (ISCaP), referring to the two genes implicated in high-risk prostate disease. Cuzick gave a report on the Consensus Statement for Prostate Cancer Prevention at the closing plenary session of the 28 Annual EAU Congress held in Milan, Italy from March 15 to 19. "The goal should be to integrate with other protein markers in order to develop risk-adapted screening algorithms," he ...

This press release is available in German. System-wide networks of proteins are indispensable for organisms. Function and evolution of these networks are among the most fascinating research questions in biology. Bioinformatician Thomas Rattei, University of Vienna, and physicist Hernan Makse, City University New York (CUNY), have reconstructed ancestral protein networks. The results are of high interest not only for evolutionary research but also for the interpretation of genome sequence data. Recently, the researchers published their paper in the renowned journal PLOS ...

Planck refines our knowledge of the Universe's composition and evolution New maps provide excellent evidence for our standard model of cosmology Planck dates Universe at 13.82 billion years old Anomalies suggest that Universe may be different on scales larger than those we can directly observe Most accurate values yet for the ingredients of the Universe, with normal matter contributing just 4.9% of the mass/energy density of the Universe and dark matter making up 26.8% - nearly a fifth more than the previous estimate. Europe's Planck satellite - a flagship mission ...

BOSTON, MA—According to a new study, the last few meals before surgery might make a difference in recovery after surgery. Fat tissue is one of the most dominant components that make up the body, and fat tissue is always traumatized during major surgery. Researchers at Brigham and Women's Hospital (BWH) found that this direct trauma greatly impacts the chemical balance of fat tissue—chemicals that are known to communicate with nearby and distant organs. In the study, mice that consumed a typical Western, high-fat diet showed an exaggerated imbalanced response. Importantly, ...

(Boston) – A new study involving researchers from the Boston University School of Medicine (BUSM) has identified barriers that clinicians face in correctly ordering appropriate laboratory tests and highlights some solutions that may simplify this process and improve patient outcomes. The study, published in the March 2013 issue of the Journal of General Internal Medicine, was led by Elissa Passiment, EdM, of the American Society for Clinical Laboratory Science and James L. Meisel, MD, associate professor of medicine at BUSM. Passiment, Meisel and colleagues identified ...

MANHATTAN -- A Kansas State University research team has found that despite humans increasing nitrogen production through industrialization, nitrogen availability in many ecosystems has remained steady for the past 500 years. Their work appears in the journal Nature. "People have been really interested in nitrogen in current times because it's a major pollutant," said Kendra McLauchlan, assistant professor of geography and director of the university's Paleoenvironmental Laboratory. "Humans are producing a lot more nitrogen than in the past for use as crop fertilizer, ...

Philadelphia, PA, March 21, 2013 – The April issue of Translational Research examines the progress and outlook of gene therapy research, with a specific focus on the clinical applicability of gene therapy today. Research articles included in the special issue highlight current studies that, after decades of trial and error, may provide evidence for a clear path of treatment and cure for many diseases. There are more than 1,800 genetic disorders known in humans, and only a small fraction of these can be treated and even fewer cured. Some of these disorders are exceedingly ...

University of Colorado Boulder astronomers targeting one of the brightest quasars glowing in the universe some 11 billion years ago say "sideline quasars" likely teamed up with it to heat abundant helium gas billions of years ago, preventing small galaxy formation. CU-Boulder Professor Michael Shull and Research Associate David Syphers used the Hubble Space Telescope to look at the quasar -- the brilliant core of an active galaxy that acted as a "lighthouse" for the observations -- to better understand the conditions of the early universe. The scientists studied gaseous ...

Once rhesus monkeys learn to associate a picture with a reward, the reward by itself becomes enough to alter the activity in the monkeys' visual cortex. This finding was made by neurophysiologists Wim Vanduffel and John Arsenault (KU Leuven and Harvard Medical School) and American colleagues using functional brain scans and was published recently in the leading journal Neuron. Our visual perception is not determined solely by retinal activity. Other factors also influence the processing of visual signals in the brain. "Selective attention is one such factor," says Professor ...

New Rochelle, NY, March 21, 2013—A new study of patterns of brain communication in toddlers with autism shows evidence of aberrant neural communication even at this relatively early stage of brain development. The results are presented in an article in Brain Connectivity, a bimonthly peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free on the Brain Connectivity website at http://www.liebertpub.com/brain. A team of researchers from The Netherlands (University Medical Center Utrecht and Utrecht University, Radboud University Nijmegen ...

A national survey of health professionals showed that drug shortages are taking a heavy toll on cancer patients, forcing treatment changes and delays that for some patients meant worse outcomes, more therapy-related complications and higher costs. St. Jude Children's Research Hospital investigators played an important role in the study. The survey queried oncology pharmacists and others involved in managing cancer drug shortages for academic medical centers, community hospitals and other cancer treatment facilities nationwide. Of the 243 individuals who completed the ...

AUGUSTA, Ga. – Food and environment can chemically alter your gene function and scientists have identified a gene that is consistently altered in obesity. The gene LY86 was among a group of 100 genes identified as likely contributors to obesity through genome-wide association studies comparing the DNA of thousands of obese and lean individuals, said Dr. Shaoyong Su, genetic epidemiologist at the Medical College of Georgia at Georgia Regents University. Su looked at progressively larger groups of obese versus lean individuals and found LY86 consistently and highly chemically ...

UT Dallas researchers are developing a new low-light imaging method that could improve a number of scientific applications, including the microscopic imaging of single molecules in cancer research. Electrical engineering professor Dr. Raimund Ober and his team recently published their findings in the journal Nature Methods. In the journal, they describe a method which minimizes the deterioration of images that can occur with conventional imaging approaches. "Any image you take of an object is translated by the camera into pixels with added electronic noise," Ober said. ...

ITHACA, N.Y. — With a dizzying number of ties in our social networks – that your Aunt Alice is a neighbor of Muhammad who is married to Natasha who is your wife's boss – it's a wonder we remember any of it. How do we keep track of the complexity? We cheat, says a Cornell University sociologist in Scientific Reports (March 21), a publication of Nature. Study: http://www.nature.com/srep/2013/130321/srep01513/full/srep01513.html Humans keep track of social information not by rote memorization but with simplifying rules, as you might remember a number sequence that always ...

Researchers at Moffitt Cancer Center and colleagues in Canada have published study results focused on black women younger than 50, a population disproportionately afflicted with and dying from early-onset breast cancer compared to their white counterparts. The research published in the Jan. 16 issue of The Breast Journal. Early-onset breast cancer has been associated with mutations in the BRCA1 and BRCA2 genes. These breast cancer predisposing genes were discovered almost 20 years ago and confer a lifetime risk of breast cancer of 60 to 70 percent, as well as a much higher ...

Thanks to a supersensitive space telescope and some sophisticated supercomputing, scientists from the international Planck collaboration have made the closest reading yet of the most ancient story in our universe: the cosmic microwave background (CMB). Today, the team released preliminary results based on the Planck observatory's first 15 months of data. Using supercomputers at the U.S. Department of Energy's (DOE) National Energy Research Scientific Computing Center (NERSC) Planck scientists have created the most detailed and accurate maps yet of the relic radiation ...

Boston – In a highly anticipated report, landmark recommendations on the handling of incidental findings in clinical genome and exome sequencing are being issued from the American College of Medical Genetics and Genomics (ACMG). A report of the recommendations, led by Robert C. Green, MD, MPH, a medical geneticist at Brigham and Women's Hospital (BWH), outlines for the first time a minimum list of genetic conditions, genes and variants that laboratories performing clinical sequencing should seek and report to the physicians that ordered the testing -- regardless of the ...

A new Guidance recently published by the European Society for Clinical and Economic Aspects of Osteoporosis (ESCEO) and the International Osteoporosis Foundation (IOF) reflects the most current advances in the diagnosis and management of osteoporosis, the 'silent disease' which affects up to one in two postmenopausal women. "The serious impact of fragility fractures due to osteoporosis is vastly underestimated by many health care professionals," stated ESCEO President Professor Jean-Yves Reginster. "Statistics clearly show that fragility fractures in older adults ...

Philadelphia – By studying the underlying differences in gene expression during healing after a bone break in young versus aged mice, Jaimo Ahn, MD, PhD, assistant professor of Orthopaedic Surgery at the Perelman School of Medicine, University of Pennsylvania, and his colleagues aim to find specific pathways of fracture healing in humans. The team of researchers will present their findings in a poster presentation beginning Tuesday, March 19, 2013 at the 2013 American Academy of Orthopedic Surgeons annual meeting in Chicago. Problems with healing after bone fractures ...

Researchers at the UAB's Institute of Environmental Science and Technology (ICTA-UAB) and the Institute of Marine Sciences (ICM-CSIC), have analysed the potential of different species of microalgae for producing biodiesel, comparing their growth, production of biomass and the quantity of lipids per cell (essential for obtaining fuel). Their study shows that one type of marine algae that has received little attention till now - dinoflagellate microalgae - is highly suitable for cultivation with the aim of producing biodiesel. The scientists carried out the whole production ...

WEST LAFAYETTE, Ind. - New research findings may help scientists design drugs to treat a virus infection that causes potentially fatal brain swelling and paralysis in children. The virus, called enterovirus 71, causes hand, foot and mouth disease and is common throughout the world. Although that disease usually is not fatal, the virus has been reported to cause fatal encephalitis in infants and young children, primarily in the Asia-Pacific region. Currently, no cure exists for the infection. New findings show the precise structure of the virus bound to a molecule that ...