PRESS-NEWS.org - Press Release Distribution
PRESS RELEASES DISTRIBUTION

Novel muscular dystrophy gene connects to a key biological pathway

University of Minnesota Medical School researchers discover new disease gene

2021-04-15
(Press-News.org) MINNEAPOLIS/ST.PAUL (04/15/2021) -- New research from the University of Minnesota Medical School found mutations in a novel gene that may help identify patients with a specific form of muscular dystrophy.

The laboratory of Peter B. Kang, MD, the new director of the Paul & Sheila Wellstone Muscular Dystrophy Center at the U of M Medical School, studies the genetics and disease mechanisms of muscular dystrophy. It uses cutting-edge genomic methods to discover disease-causing mutations in patients who cannot find answers via clinical genetic test facilities.

The Kang laboratory and collaborators at the Université Libre de Bruxelles found a novel gene associated with muscular dystrophy and led an international coalition of scientists and physicians to describe a group of 13 families from around the world affected by muscular dystrophy who harbor disease-causing mutations in a gene named JAG2. The group found a distinct pattern of abnormalities on muscle MRI that may help identify other patients with this specific form of muscular dystrophy in the future. This work was begun while Kang was at the University of Florida, and completed after his arrival at the U of M Medical School.

Kang, who is also a professor and vice chair of research in the Department of Neurology at the Medical School, is the senior author of the study published today in the END


ELSE PRESS RELEASES FROM THIS DATE:

From smoky skies to a green horizon: Scientists convert fire-risk wood waste into biofuel

From smoky skies to a green horizon: Scientists convert fire-risk wood waste into biofuel
2021-04-15
Reliance on petroleum fuels and raging wildfires: Two separate, large-scale challenges that could be addressed by one scientific breakthrough. Teams from Lawrence Berkeley National Laboratory (Berkeley Lab) and Sandia National Laboratories have collaborated to develop a streamlined and efficient process for converting woody plant matter like forest overgrowth and agricultural waste - material that is currently burned either intentionally or unintentionally - into liquid biofuel. Their research was published recently in the journal ACS Sustainable Chemistry & Engineering. "According to a recent report, by 2050 there will ...

AI pinpoints local pollution hotspots using satellite images

AI pinpoints local pollution hotspots using satellite images
2021-04-15
DURHAM, N.C. - Researchers at Duke University have developed a method that uses machine learning, satellite imagery and weather data to autonomously find hotspots of heavy air pollution, city block by city block. The technique could be a boon for finding and mitigating sources of hazardous aerosols, studying the effects of air pollution on human health, and making better informed, socially just public policy decisions. "Before now, researchers trying to measure the distribution of air pollutants throughout a city would either try to use the limited number of existing monitors or drive sensors around a city in vehicles," said Mike ...

Measuring neutron star squeezability

Measuring neutron star squeezability
2021-04-15
A team of scientists used a telescope on the International Space Station to measure the size of PSR J0740+6620 (J0740, for short), the most massive known neutron star. NASA's Neutron star Interior Composition Explorer (NICER) has captured unprecedented detail from this stellar remnant to learn more about matter in its core, which is on the threshold of collapsing into a black hole. The NICER team will introduce their groundbreaking findings at a press conference during the 2021 APS April Meeting. NASA astronaut Christina Koch will join them to talk about how researchers use the space station as a science platform. From pencils to pulsars "Matter makes up everything we can see in the universe, from pencils ...

Tell me who your friends are: Neural network uses data on banking transactions for credit scoring

2021-04-15
Researchers from Skoltech and a major European bank have developed a neural network that outperforms existing state-of-the art solutions in using transactional banking data for customer credit scoring. The research was published in the proceedings of the 2020 IEEE International Conference on Data Mining (ICDM). Machine learning algorithms are already extensively used in risk management, helping banks assess clients and their finances. "A modern human, in particular a bank client, continually leaves traces in the digital world. For instance, the client may add information about transferring money to another person in a payment system. Therefore, every person obtains a large number of connections that can be represented as a directed graph. Such a graph gives an additional ...

Reliable COVID-19 short-term forecasting

2021-04-15
A new study by Texas A&M University researchers published in END ...

Medically savvy smartphone imaging systems

Medically savvy smartphone imaging systems
2021-04-15
Smartphones get smarter every day. These "Swiss Army knives" of mobile computing become even more useful with specialized attachments and applications to improve healthcare. Based on inherent capabilities like built-in cameras, touchscreens, and 3D sensing, as well wearable peripheral devices, custom interfaces for smartphones can yield portable, user-friendly biomedical imaging systems to guide and facilitate diagnosis and treatment in point-of-care settings. What are the most effective ways to leverage and augment smartphone capabilities? Helpful guidelines are provided in a critical review of emerging smartphone-based imaging systems END ...

Imaging agent enables better monitoring of patients with bacterial infections

2021-04-15
An imaging agent allows scientists to better visualize Enterobacterales infections in patients, helping to address pathogens that can be life-threatening and frequently resist antibiotics. The agent was safe in 26 patients and differentiated infections from either sterile inflammation or COVID-19-linked pneumonia in hamsters. Enterobacterales is the largest group of disease-causing bacteria in humans, and includes common pathogens such as Escherichia coli, Salmonella, and Klebsiella pneumoniae. These species have become increasingly resistant to common antibiotics, which has led the Centers for Disease Control to label some drug-resistant strains as urgent threats to human health. However, scientists still lack tools that can rapidly ...

FSU College of Medicine research links Parkinson's disease and neuroticism

2021-04-15
New research from the Florida State University College of Medicine has found that the personality trait neuroticism is consistently associated with a higher risk of developing the brain disorder Parkinson's disease. The research by Professor of Geriatrics Antonio Terracciano and team, published in Movement Disorders, found that adults in the study who scored in the top quartile of neuroticism had more than 80% greater risk of Parkinson's, compared to those who scored lower on neuroticism. "Some clinicians think that the anxiety and depression is just the result of Parkinson's," Terracciano said. "However, our findings suggest that some emotional vulnerability is present early in life, ...

Modelling ancient antarctic ice sheets helps us see future of global warming

Modelling ancient antarctic ice sheets helps us see future of global warming
2021-04-15
AMHERST, Mass. - Last month saw the average concentration of atmospheric carbon dioxide (CO2) climb to almost 418 parts-per-million, a level not seen on Earth for millions of years. In order to get a sense of what our future may hold, scientists have been looking to the deep past. Now, new research from the University of Massachusetts Amherst, which combines climate, ice sheet and vegetation model simulations with a suite of different climatic and geologic scenarios, opens the clearest window yet into the deep history of the Antarctic ice sheet and what our planetary future might hold. The Antarctic ice sheet has attracted the particular interest of the scientific community because it is "a lynchpin in the earth's climate system, affecting everything from ...

Can financial stress lead to physical pain in later years?

2021-04-15
Financial stress can have an immediate impact on well-being, but can it lead to physical pain nearly 30 years later? The answer is yes, according to new research from University of Georgia scientists. The study, published in Stress & Health, reveals that family financial stress in midlife is associated with a depleted sense of control, which is related to increased physical pain in later years. "Physical pain is considered an illness on its own with three major components: biological, psychological and social," said Kandauda A.S. Wickrama, first author and professor in the College of Family and Consumer Sciences. "In older adults, it co-occurs with other health problems like limited physical functioning, loneliness and cardiovascular ...

LAST 30 PRESS RELEASES:

Unveiling the mysteries of cell division in embryos with timelapse photography

Survey finds loneliness epidemic runs deep among parents

Researchers develop high-energy-density aqueous battery based on halogen multi-electron transfer

Towards sustainable food systems: global initiatives and innovations

Coral identified as oldest bioluminescent organism, suggesting a new model of ancient ecology

SRI chosen by DARPA to develop next-generation computational design of metallic parts and intelligent testing of alloys

NJIT engineers muffle invading pathogens with a 'molecular mask'

Perinatal transmission of HIV can lead to cognitive deficits

The consumption of certain food additive emulsifiers could be associated with the risk of developing type 2 diabetes

New cancer research made possible as Surrey scientists study lipids cell by cell 

Bioluminescence first evolved in animals at least 540 million years ago

Squids’ birthday influences mating

Star bars show Universe’s early galaxies evolved much faster than previously thought

Critical minerals recovery from electronic waste

The move by Apple Memories to block potentially upsetting content illustrates Big Tech’s reach and limits, writes Chrys Vilvang

Chemical tool illuminates pathways used by dopamine, opioids and other neuronal signals

Asian monsoon lofts ozone-depleting substances to stratosphere

PET scans reveal ‘smoldering’ inflammation in patients with multiple sclerosis

Genetics predict type 2 diabetes risk and disparities in childhood cancer survivors

Health information on TikTok: The good, the bad and the ugly

New study points to racial and social barriers that block treatment for multiple myeloma

Rensselaer researcher finds that frog species evolved rapidly in response to road salts

A new chapter in quantum vortices: Customizing electron vortex beams

Don’t be a stranger – study finds rekindling old friendships as scary as making new ones

There’s no ‘one size fits all’ when it comes to addressing men’s health issues globally

Comparison of the “late catch-up” phenomenon between BuMA Supreme and XIENCE stents through serial optical coherence tomography at 1–2 month and 2 year follow-ups: A multicenter study

Marine plankton communities changed long before extinctions

Research reveals tools to make STEM degrees more affordable

Q&A: UW research shows neural connection between learning a second language and learning to code

Keane wins 2024 Gopal K. Shenoy Excellence in Beamline Science Award

[Press-News.org] Novel muscular dystrophy gene connects to a key biological pathway
University of Minnesota Medical School researchers discover new disease gene