Rochester, Minn. -- Mayo Clinic researchers have discovered that genetic variants in a neuro-associated gene called SPTBN1 are responsible for causing a neurodevelopmental disorder. The study, published in Nature Genetics, is a first step in finding a potential therapeutic strategy for this disorder, and it increases the number of genes known to be associated with conditions that affect how the brain functions. "The gene can now be included in genetic testing for people suspected of having a neurodevelopmental disorder, which may end the diagnostic odyssey these people and their families have endured," says Margot Cousin, Ph.D., a translational ...

UNIVERSITY PARK, Pa. -- In the late 1800s, scientists were stumped by the "yellow cells" they were observing within the tissues of certain temperate marine animals, including sea anemones, corals and jellyfish. Were these cells part of the animal or separate organisms? If separate, were they parasites or did they confer a benefit to the host? In a paper published in the journal Nature in 1882, biologist Sir Patrick Geddes of Edinburgh University proffered that not only were these cells distinct entities, but they were also beneficial to the animals in which they lived. He assigned them to a new genus, Philozoon -- from the Greek phileo, meaning 'to love ...

Giving women in India's Madhya Pradesh state greater digital control over their wages encouraged them to enter the labor force and liberalized their beliefs about working women, concluded a new study co-authored by Yale economists Rohini Pande and Charity Troyer Moore. The study, published in the American Economic Review, found that a relatively simple intervention directed to poor women -- providing them access to their own bank accounts and direct deposit for their earnings from a federal workfare program, along with basic training on how to use local bank kiosks -- increased the amount ...

Based on fossil finds, we know that the vast majority of species that once inhabited the earth have become extinct. For example, there are about 5,500 mammal species living on the planet today, but we know of at least 160,000 fossil species, so for every mammal species living today, there are at least 30 extinct ones. We therefore know with great certainty that the lineages of living things come and go along immense time scales. But what factors cause these lineages to come into being and disappear is still an unsolved question. To investigate ...

Additive manufacturing has the potential to allow one to create parts or products on demand in manufacturing, automotive engineering, and even in outer space. However, it's a challenge to know in advance how a 3D printed object will perform, now and in the future. Physical experiments -- especially for metal additive manufacturing (AM) -- are slow and costly. Even modeling these systems computationally is expensive and time-consuming. "The problem is multi-phase and involves gas, liquids, solids, and phase transitions between them," said University of Illinois Ph.D. student Qiming ...

Early 2020 saw the world break into what has been described as a "war-like situation": a pandemic, caused by the severe acute respiratory syndrome-related coronavirus 2 (SARS-CoV-2), the likes of which majority of the living generations across most of the planet have not ever seen. This pandemic has downed economies and resulted in hundreds of thousands of deaths. At the dawn of 2021, vaccines have been deployed, but before populations can be sufficiently vaccinated, effective treatments remain the need of the hour. Thus, other than fast-tracking research into novel drugs, scientists have also been exploring their ...

Breeding better crops through genetic engineering has been possible for decades, but the use of genetically modified plants has been limited by technical challenges and popular controversies. A new approach potentially solves both of those problems by modifying the energy-producing parts of plant cells and then removing the DNA editing tool so it cannot be inherited by future seeds. The technique was recently demonstrated through proof-of-concept experiments published in the journal Nature Plants by geneticists at the University of Tokyo. "Now we've got a way to modify chloroplast genes specifically and measure their potential to make a good plant," said Associate Professor Shin-ichi ...

"We know that children use a lot of different information sources in their social environment, including their own knowledge, to learn new words. But the picture that emerges from the existing research is that children have a bag of tricks that they can use", says Manuel Bohn, a researcher at the Max Planck Institute for Evolutionary Anthropology. For example, if you show a child an object they already know - say a cup - as well as an object they have never seen before, the child will usually think that a word they never heard before belongs with the new object. Why? Children use information ...

In a rapidly changing Arctic, one area might serve as a refuge - a place that could continue to harbor ice-dependent species when conditions in nearby areas become inhospitable. This region north of Greenland and the islands of the Canadian Arctic Archipelago has been termed the Last Ice Area. But research led by the University of Washington suggests that parts of this area are already showing a decline in summer sea ice. Last August, sea ice north of Greenland showed its vulnerability to the long-term effects of climate change, according to a study published July 1 in the open-access journal Communications Earth & Environment. "Current thinking is that this area may be the last refuge for ice-dependent ...

Elephants and their forebears were pushed into wipeout by waves of extreme global environmental change, rather than overhunting by early humans, according to new research. The study, published today in Nature Ecology & Evolution, challenges claims that early human hunters slaughtered prehistoric elephants, mammoths and mastodonts to extinction over millennia. Instead, its findings indicate the extinction of the last mammoths and mastodonts at the end of the last Ice Age marked the end of progressive climate-driven global decline among elephants over millions of years. Although elephants today are restricted to just three endangered species in the African and Asian tropics, these are survivors of a once far more diverse and widespread group of giant herbivores, known ...

FINDINGS Men with high-risk prostate cancer with at least one additional aggressive feature have the best outcomes when treated with multiple healthcare disciplines, known as multimodality care, according to a UCLA study led by Dr. Amar Kishan, assistant professor of radiation oncology at the David Geffen School of Medicine at UCLA and a researcher at the UCLA Jonsson Comprehensive Cancer Center. The study found no difference in prostate cancer-specific deaths across treatment modalities when patients received guideline-concordant multimodality therapy, which in this case was inclusion of hormone therapy for men receiving radiation ...

A water disinfectant created on the spot using just hydrogen and the air around us is millions of times more effective at killing viruses and bacteria than traditional commercial methods, according to scientists from Cardiff University. Reporting their findings today in the journal Nature Catalysis, the team say the results could revolutionise water disinfection technologies and present an unprecedented opportunity to provide clean water to communities that need it most. Their new method works by using a catalyst made from gold and palladium that takes in hydrogen and oxygen to form ...

As many expectant mothers know, getting enough folate is key to avoiding neural tube defects in the baby during pregnancy. But for the individuals who carry certain genetic variants, dealing with folate deficiency can be a life-long struggle which can lead to serious neurological and heart problems and even death. Now a Donnelly Centre study offers clues to how to recognize early those who are most at risk. Defects in an enzyme called MTHFR, or 5,10-methylenetetrahydrofolate reductase, which modifies folate, or vitamin B9 as it is also known, to produce ...

CHAPEL HILL, NC - Scientists at the University of North Carolina at Chapel Hill School of Medicine and colleagues have demonstrated that variants in the SPTBN1 gene can alter neuronal architecture, dramatically affecting their function and leading to a rare, newly defined neurodevelopmental syndrome in children. Damaris Lorenzo, PhD, assistant professor in the UNC Department of Cell Biology and member of the UNC Neuroscience Center at the UNC School of Medicine, led this research, which was published today in the journal Nature Genetics. Lorenzo, who is also a member of the UNC Intellectual and Developmental Disabilities Research Center (IDDRC) at the UNC School of Medicine, is the ...

Hundreds of genetic drivers affect sexual and reproductive behaviour Combined with social factors, these can affect longevity and health An Oxford-led team, working with Cambridge and international scholars, has discovered hundreds of genetic markers driving two of life's most momentous milestones - the age at which people first have sex and become parents. In a paper published today in Nature Human Behaviour, the team linked 371 specific areas of our DNA, called genetic variants (known locations on chromosomes), 11 of which were sex-specific, to the timing of first sex and birth. These variants interact with environmental factors, such as socioeconomic status and when you were born, and are predictors of longevity and later life disease. The researchers ...

People who have lost their sense of smell are being failed by healthcare professionals, new research has revealed. A study by Newcastle University, University of East Anglia and charity Fifth Sense, shows poor levels of understanding and care from GPs and specialists about smell and taste loss in patients. This is an issue that has particularly come to the forefront during the Covid-19 pandemic as many people who have contracted the virus report a loss of taste and smell as their main symptoms. Around one in 10 people who experience smell loss as a result of Covid-19 report that their sense of smell has ...

In a new publication from Opto-Electronic Advances; DOI 10.29026/oea.2021.210040, Researchers led by Professor Daewook Kim from The University of Arizona, Tucson, AZ, USA consider advances in optical engineering for future telescopes. Astronomical advances are largely coupled with technological improvements - from the invention of the first optical telescope used by Galileo in 1609 and for the foreseeable future, astronomy and optical engineering will be forever linked. This paper summarizes several advances that will enable future telescopes to expand scientific understanding of the universe. Significant optical engineering advances at the University of Arizona are being made for design, fabrication, and construction of next ...

BLOOMINGTON, Ind. -- Scientists at Indiana University have found that significant amounts of the two main components of cannabis, THC and CBD, enter the embryonic brain of mice in utero and impair the mice's ability as adults to respond to fluoxetine, a drug commonly used to treat anxiety and depression and known by the brand name Prozac. The study suggests that when the developing brain is exposed to THC or CBD, normal interactions between endocannabinoid and serotonin signaling may be diminished as they become adults. "Hemp-derived CBD is a legal substance in the U.S., and we are in a time of increasing state-level legalization of cannabis. ...

A team of researchers from the University of Cambridge, University College London, University of Oxford, and University of Brescia/RFF-CMCC European Institute on Economics and the Environment carried out the first systematic analysis of the relative performance of probabilistic cost forecasts from expert-based methods and model-based methods. They specifically focused on one expert-based method -- expert elicitations -- and four model-based methods which model costs either as a function of cumulative installed capacity or as a function of time. The results of this ...

Researchers have developed a more efficient platform for studying proteins that play a key role in regulating gene expression. The approach uses engineered yeast cells to produce enzyme and histone proteins, conduct biochemical assays internally, and then display the results. "Biomedical and biotech researchers are interested in the mechanisms that allow histones to regulate gene activity," says Alison Waldman, first author of a paper on the work and a Ph.D. student at North Carolina State University. "But the conventional tools for histone research are unwieldy ...

Mass-flowering crops such as oilseed rape or faba bean (also known as broad bean) provide valuable sources of food for bees, which, in turn, contribute to the pollination of both the crops and nearby wild plants when they visit. But not every arable crop that produces flowers is visited by the same bees. A team from the University of Göttingen and the Julius Kühn Institute (JKI) in Braunschweig has investigated how the habitat diversity of the agricultural landscape and the cultivation of different mass-flowering crops affect wild bees. The research shows that diverse agricultural landscapes increase the species richness ...

A team led by Skoltech professor Artem R. Oganov studied the structure and properties of ternary hydrides of lanthanum and yttrium and showed that alloying is an effective strategy for stabilizing otherwise unstable phases YH10 and LaH6, expected to be high-temperature superconductors. The research was published in the journal Materials Today. Cuprates had long remained record-setters for high-temperature superconductivity until H3S was predicted in 2014. This unusual sulfur hydride was estimated to have high-temperature superconductivity at 191-204 K and was later obtained experimentally, setting a new record in superconductivity. Following this discovery, many scientists turned to superhydrides, which are abnormally rich in hydrogen, and discovered new compounds that ...

Laboratories are an inherent part of technology qualifications, as practical experiments are essential for students to acquire the competencies and skills that they will need during their future professional development. Providing this learning in a virtual format is one of the challenges posed by the current COVID-19 pandemic--a challenge that distance universities have been addressing for years. RLAB-UOC is a remote laboratory designed and developed by the Universitat Oberta de Catalunya (UOC) that enables students in the Faculty of Computer Science, Multimedia and Telecommunications to conduct practical experiments with real electronic and communications equipment anywhere, at any time. A new article published in the scientific journal Electronics has described the characteristics ...

Near-death experiences are known from all parts of the world, various times and numerous cultural backgrounds. This universality suggests they may have a biological origin and purpose, but exactly what this could be has been largely unexplored. A new study conducted jointly by the University of Copenhagen (Denmark) and the University of Liege (Belgium) and published in Brain Communications shows how near-death experiences in humans may have arisen from evolutionary mechanisms. "Adhering to a preregistered protocol, we investigated the hypothesis that thanatosis is the evolutionary origin of near-death experiences", says Daniel Kondziella, a neurologist from Rigshospitalet, Copenhagen University Hospital. When attacked by a predator, as a last resort defense mechanism, ...

An affordable lab system that uses grass blades to turn cells into cultured meat has been developed at the University of Bath in the UK. Researchers have successfully taken grass from the university's campus and used it to create a scaffold that animal cells can attach to and grow on. The resulting tissue has the potential to be used both as lab-made meat and as human muscle tissue to repair or replace tissue which has been damaged or lost through injury or disease. The study, by Dr Paul De Bank (Department of Pharmacy & Pharmacology), Professor Marianne Ellis (Department of Chemical Engineering) and Scott Allan (a PhD researcher in the Department of Chemical Engineering), is published in this month's Journal of ...