news, journals and articles from all over the world.
A research team led by the University of California, Irvine has built the first genetic reference maps for short lengths of DNA repeated multiple times which are known to cause more than 50 lethal human diseases, including amyotrophic lateral sclerosis, Huntington’s disease and multiple cancers.
UC Santa Barbara researchers and collaborators in Colombia, Brazil and Germany are progressing toward an understanding of mechanisms that underlie Alzheimer’s disease, in particular an early-onset, genetic form that has afflicted generations of an extended family in Colombia.
For tens of thousands of years, evolution shaped tomatoes through natural mutations. Then, humans came along. For centuries, we’ve bred and cherry-picked tomatoes with our preferred traits.
Scientists at St. Jude Children’s Research Hospital showed that fixed mutations within a viral population most likely stem from how easy it is to acquire that mutation (i.e., mutation accessibility) rather than just its benefit.
Healthy human skin is a mosaic of normal and mutation-bearing cells. More cells accumulate more mutations as we age, increasing skin cancer risk. Researchers in the lab of Valentina Greco found injury to the skin promotes healthy-cell expansion, which in…
Although genetic mutations in BRCA1 or BRCA2 are associated with a younger onset of breast and ovarian cancer, women with these genetic mutations continue to face a high risk of cancer incidence after age 50, even if they have not been previously diagnosed with cancer.
Researchers reporting in ACS Infectious Diseases have developed a procedure that could help researchers catch up to microbes which can rapidly mutate and evade detection and treatment. Their “AutoPLP” technique designs nucleic acid probes to detect new variants quickly, accurately and easily.
Scientists have so far found at least two genetic pathways leading to the same physical outcome: all-black feathers. This change was no random accident. It was a result of nature specifically selecting for this trait. The new study is published in the journal PLOS Genetics.
Rensselaer Polytechnic Institute Professor of Computer Science, Cognitive Science, and Industrial and Systems Engineering Deborah McGuinness was diagnosed with breast cancer nearly 10 years ago. Her treatments were emotionally and physically challenging: McGuinness endured six months of chemotherapy, 33 radiation treatments, and four surgeries before emerging with current “no evidence of disease” status.
Key differences in male and female mice brains provide new insights into how sex determines the mechanisms by which distinct synapses monitor and regulate dopamine signaling. The impact of sex differences is particularly pronounced when the mice express a human genetic variant found in boys with either ADHD or autism. Behavioral generalizations across the sexes may limit diagnosis of mental illness, especially if one sex translates alterations into outward signs such as hyperactivity and aggression vs. more internal manifestations such as learning, memory and mood, even when the same molecular pathology is at work.
Scientists have uncovered an intriguing new understanding of how viruses and the hosts they infect evolve new innovations to outcompete each other. Culminating a 10-year research effort, the researchers tracked the way fitness landscapes constantly change in the ongoing struggle for survival.
Doctors should reserve Paxlovid for the highest risk patients because if Paxlovid is widely used, it mostly will destroy the variants it can treat, says a Rutgers researcher.
Rutgers researcher, Grace Brannigan, has co-authored a study published in The Proceedings of the National Academy of Sciences (PNAS) that centers around the connection between gene mutations in protein sequences and diseases.
The first bladder cancer drug targeting a cancer-driving gene mutation has been used relatively little despite its clear efficacy in a clinical trial, suggests a JAMA Oncology study led by the University of Pennsylvania. Researchers analyzed a large, nationwide database of cancer cases and found that bladder cancer patients potentially eligible for erdafitinib (Balversa) treatment, fewer than half had a record of being tested for the relevant gene mutation. Of those who were tested and found to have the mutation, fewer than half received the treatment.
University of Utah biologists discovered that a mutation in the ROR2 gene is linked to beak size reduction in numerous breeds of domestic pigeons. Surprisingly, different mutations in ROR2 also underlie a human disorder called Robinow syndrome. The ROR2 signaling pathway plays an important role in the craniofacial development of all vertebrates.
A scientific detective story starting with a single patient in Pittsburgh unearths how the SARS-CoV-2 virus mutates to create new variants, including the UK strain B.1.1.7, and escapes neutralizing antibodies.
New research published in the journal Function identifies NKCC1, the protein responsible for moving sodium, potassium and chloride into cells, to be a cause of disease and dysfunction throughout the body. NKCC1 is encoded by the gene SLC12A2. Human and…
A study finds that cancer mutations occur in distinct patterns based on the 3D structure of the genome and the underlying cause of the mutation. This helps us to understand cancer better and may lead to new treatment approaches.
Researchers have found at least 10 distinct “hotspot” mutations in more than 80% of randomly selected SAR-CoV-2 sequences from six countries, and these genome hotspots – seen as “typos” that can occur as the virus replicates during cellular division – could have a significant impact in the fight against the COVID-19 pandemic.
Article title: Dilated cardiomyopathy mutations in thin-filament regulatory proteins reduce contractility, suppress systolic Ca2+, and activate NFAT and Akt signaling Authors: Paul Robinson, Alexander J. Sparrow, Suketu Patel, Marta Malinowska, Svetlana N. Reilly, Yin-Hua Zhang, Barbara Casadei, Hugh Watkins, Charles Redwood…
Many viruses mutate so quickly that identifying vaccines or treatments is like trying to hit a moving target. Now, scientists report a new technique that can detect minor changes in RNA sequences. They present their results today at the American Chemical Society Fall 2020 Virtual Meeting & Expo.
Researchers from the Icahn School of Medicine used a novel genetic sequencing technology to identify the genetic cause of—and a treatment for—a previously unknown severe auto inflammatory syndrome affecting an 18-year-old girl since infancy.
A new 10-year analysis led by Igor Puzanov, MD, MSci, FACP, Director of Early Phase Clinical Trials and Chief of Melanoma at Roswell Park Comprehensive Cancer Center and published today in the journal JAMA Oncology provides new insights into an important question: whether BRAF V600E/K mutation status or previous BRAF inhibitor (BRAFi) therapy with or without a MEK inhibitor (MEKi) affects response to pembrolizumab (brand name Keytruda) in patients with advanced melanoma.
Researchers are creating a knowledge base that includes information for modeling outbreak and mutation of COVID-19, which will serve as a benchmark for better understanding the spread of the virus. They also are developing a multi-source deep neural network-based predictive tool to combine demographics, policies, regional infections, and individual information for risk evaluation using graph/network to represent entities and their relationships. The entities are fully compatible to the Unified Medical Language System standard for convenient knowledge sharing.
To counter drug resistance Penn State engineers have developed a new approach for predicting which mutation has expanded the most in a population and should be targeted to design the most effective new drug.
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