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Current Gene Mutation News and Events, Gene Mutation News Articles.
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Study details N439K variant of SARS-CoV-2
An international team of researchers has characterized the effect and molecular mechanisms of an amino acid change in the SARS-CoV-2 Spike protein N439K. Viruses with this mutation are both common and rapidly spreading around the globe. The peer reviewed version of the study appears January 25 in the journal Cell. (2021-01-28)

Malaria threw human evolution into overdrive on this African archipelago
Malaria is an ancient scourge, but it's still leaving its mark on the human genome. And now, researchers have uncovered recent traces of adaptation to malaria in the islanders of Cabo Verde -- thanks to a genetic mutation, inherited from their African ancestors, that prevents a type of malaria parasite from invading red blood cells. The findings represent one of the speediest, most dramatic changes measured in the human genome. (2021-01-28)

Nanoparticle drug delivery technique shows promise for treating pancreatic cancer
Veterans Affairs researchers have designed a new way to deliver pancreatic cancer drugs that could make fighting the disease much easier. (2021-01-28)

Genetic changes in tumours could help predict if patients will respond to immunotherapy
Researchers at the Francis Crick Institute, the UCL Cancer Institute, and the Cancer Research UK Lung Cancer Centre of Excellence have identified genetic changes in tumours which could be used to predict if immunotherapy drugs would be effective in individual patients. (2021-01-27)

VCU technology could upend DNA sequencing for diagnosing certain DNA mutations
Doctors are increasingly using genetic signatures to diagnose diseases and determine the best course of care, but using DNA sequencing and other techniques to detect genomic rearrangements remains costly or limited in capabilities. However, an innovative breakthrough developed by researchers at Virginia Commonwealth University Massey Cancer Center and the VCU Department of Physics promises to diagnose DNA rearrangement mutations at a fraction of the cost with improved accuracy. (2021-01-27)

Parkinson's disease risk and severity is tied to a channel in cells' 'recycling centers
Genetic variations associated with both increases and reductions in risk of the neurodegenerative disease alter the action of ion channels within cellular organelles called lysosomes, a new Penn study finds. (2021-01-27)

Partners in crime: genetic collaborator may influence severity of the rare disease, NGLY1
In 2012, four-year-old Bertrand Might became the first-ever patient diagnosed with a rare genetic disorder called N-glycanase (NGLY1) deficiency. The discovery of this condition and Bertrand's diagnosis allowed doctors to look for other children with the same genetic defect. Since then, more than 60 additional patients have been found. Clement Chow, a University of Utah geneticist is determined to find what's going on. (2021-01-26)

In preclinical models, antiviral better inhibits COVID-19 than Remdesivir; further studies warranted
Working in preclinical models, researchers report that plitidepsin, a drug with limited clinical approval for the treatment of multiple myeloma, is more potent against SARS-CoV-2 than remdesivir, an antiviral that received FDA emergency use authorization for the treatment of COVID-19 in 2020. (2021-01-25)

Mapping mutations that escape antibodies against COVID-19 suggests prior mapping incomplete
A new approach to mapping viral mutations that 'escape' leading clinical antibodies has revealed mutations in the SARS-CoV-2 virus that allow it to evade treatments, including a single amino-acid mutation that fully escapes Regeneron's antibody cocktail. (2021-01-25)

Potential combined drug therapy for lung cancer
Researchers at Kanazawa University report in Clinical Cancer Research that in the most common type of lung cancer, certain secondary mutations occurring with another gene alteration known as ALK make the efficacy of alectinib, an otherwise commonly used drug for treating lung cancer, become unfavorable. Combining alectinib with another kind of drug can overcome this adverse effect, however. (2021-01-22)

University of Cincinnati student uses zebrafish to study spinal deformities
Oriana Zinani, a doctoral student in molecular developmental biology at the University of Cincinnati, is part of a team of researchers using zebrafish embryos to study a gene mutation that causes scoliosis, a sideways curvature of the spine that typically occurs in humans just before puberty. (2021-01-22)

UMD researcher expands plant genome editing with newly engineered variant of CRISPR-Cas9
Recently named a Web of Science 2020 Highly Cited Researcher, Yiping Qi of the University of Maryland already has a new high-profile publication in 2021 introducing SpRY, a newly engineered variant of the famed gene editing tool CRISPR-Cas9. SpRY removes the barriers of what can and can't be targeted for gene editing, making it possible for the first time to target nearly any genomic sequence in plants for potential mutation. (2021-01-22)

Investigational combo therapy shows benefit for TP53 mutant MDS and AML patients
Moffitt Cancer Center is leading a national, multicenter clinical trial investigating a new therapy option for this group of patients. It builds upon the standard of care therapy, combining eprenetapopt (APR-246) with the chemotherapy azacitidine. Results of the phase 1b/2 trial to determine the safety, recommended dose and efficacy of the combination therapy were published in the Journal of Clinical Oncology. (2021-01-21)

Snake sex chromosomes say less about sex and more about survival
A new study looks to snakes to broaden our understanding of what makes a gene able to survive on a sex-specific chromosome. Comparing surviving genes on snake sex-specific chromosomes to those that are lost to the ravages of time can teach scientists about the evolutionary pressures that shaped sex chromosomes as we know them today. (2021-01-21)

Study finds genetic clues to pneumonia risk and COVID-19 disparities
Researchers at Vanderbilt University Medical Center and colleagues have identified genetic factors that increase the risk for developing pneumonia and its severe, life-threatening consequences. (2021-01-21)

New approach emerges to better classify, treat brain tumors
A look at RNA tells us what our genes are telling our cells to do, and scientists say looking directly at the RNA of brain tumor cells appears to provide objective, efficient evidence to better classify a tumor and the most effective treatments. (2021-01-19)

Genome editing to treat human retinal degeneration
Gene editing therapies, including CRISPR-Cas systems, offer the potential to correct mutations causing inherited retinal degenerations, a leading cause of blindness. Technological advances in gene editing, continuing safety concerns, and strategies to overcome these challenges (2021-01-19)

Biodistribution of AAV gene transfer vectors in nonhuman primate
The biodistribution of adeno-associated virus (AAV) gene transfer vectors can be measured in nonhuman primates using a new method. The method quantifies whole-body and organ-specific AAV capsids from 1 to 72 hours after administration (2021-01-15)

Cancer research reveals how mutations in a specific gene cause different types of disease
Leading cancer expert solve long-standing question of how various types of mutations in just one gene cause different types of diseases (2021-01-14)

Sperm-specific gene expression in organisms including mice, macaques and men
A large class of mammalian genes is not completely shared throughout sperm development and differentiation, according to a new study of sperm in organisms including mice, macaques and men. (2021-01-14)

Snakes evolve a magnetic way to be resistant to venom
Certain snakes have evolved a unique genetic trick to avoid being eaten by venomous snakes, according to University of Queensland research. Associate Professor Bryan Fry from UQ's Toxin Evolution Lab said the technique worked in a manner similar to the way two sides of a magnet repel each other. (2021-01-14)

Weaker skin barrier leads to faster uptake of chemicals
The ability of our skin to protect us from chemicals is something we inherit. Some people are less well-protected which could imply an increased risk of being afflicted by skin disease or cancer. A new study from Karolinska Institutet in Sweden that has been published in Environmental Health Perspectives shows how the rate of uptake of common chemicals is faster in people with a genetically weakened skin barrier. (2021-01-13)

Evolution: Speciation in the presence of gene flow
Spatial isolation is known to promote speciation -- but researchers at Ludwig-Maximilians-Universitaet (LMU) in Munich have now shown that, at least in yeast, the opposite is also true. New ecological variants can also evolve within thoroughly mixed populations. (2021-01-13)

New functions of integrin and talin discovered by an international research network
Researchers at Tampere University, Finland, have published new results in collaboration with an international research network that help to understand the biological phenomena mediated by cell membrane integrin receptors and contribute to the development of methods for the treatment of cancer. (2021-01-12)

Mechanisms in the kidney that control magnesium and calcium levels discovered
The gene KCTD1 directs production of a protein that functions in the kidney to maintain a normal balance of magnesium and calcium in blood. Loss of KCTD1 impairs the ability of the kidney to properly absorb magnesium and calcium from urine in the kidney, leading to abnormally low magnesium and calcium blood levels, thereby triggering the parathyroid glands to secrete excess parathyroid hormone that in turn leads to metabolic bone disease. (2021-01-12)

Are autism drugs on the horizon?
Are Autism Drugs on the Horizon? Hebrew University Identifies Genetic Mutation Associated with Autism, Offering Hope for Effective Therapeutics (2021-01-11)

Advances in understanding autism, based on "mosaic" mutations
Two studies in today's Nature Neuroscience, led by researchers at Boston Children's Hospital, Brigham and Women's Hospital (BWH), and Harvard Medical School (HMS), implicate mosaic mutations arising during embryonic development as a cause of autism spectrum disorder (ASD). The findings open new areas for exploring the genetics of ASD and could eventually inform diagnostic testing. (2021-01-11)

Intelligence deficit: Conclusion from the mouse to the human being
Impaired intelligence, movement disorders and developmental delays are typical for a group of rare diseases that belong to GPI anchor deficiencies. Researchers now used genetic engineering methods to create a mouse that mimics these patients very well. Studies in this animal model suggest that in GPI anchor deficiencies, a gene mutation impairs the transmission of stimuli at the synapses in the brain. The results are published in the journal PNAS. (2021-01-07)

DNA-editing method shows promise to treat mouse model of progeria
Researchers have successfully used a DNA-editing technique to extend the lifespan of mice with the genetic variation associated with progeria, a rare genetic disease that causes extreme premature aging in children and can significantly shorten their life expectancy. (2021-01-06)

New evidence: Effects of Huntington's disease mutation may begin in childhood
Growing evidence supports the hypothesis that there is a neurodevelopmental component to late-onset neurodegeneration occurring in the brain of huntingtin gene (HTT) mutation carriers, and this increased susceptibility to brain cell death begins during childhood. Experts discuss evidence that the HTT gene mutation affects brain and body growth based on a unique study of children at risk for HD, the Kids-HD study, in a review paper and research article published in the Journal of Huntington's Disease. (2021-01-06)

$3.9M project on self-deleting genes takes aim at mosquito-borne diseases
To control mosquito populations and prevent them from transmitting diseases such as malaria, many researchers are pursuing strategies in mosquito genetic engineering. A new Texas A&M AgriLife Research project aims to enable temporary ''test runs'' of proposed genetic changes in mosquitoes, after which the changes remove themselves from the mosquitoes' genetic code. (2020-12-28)

Common brain malformation traced to its genetic roots
Researchers at Washington University School of Medicine in St. Louis have shown that Chiari 1 malformation can be caused by variations in two genes linked to brain development, and that children with large heads are at increased risk of developing the condition. (2020-12-28)

Scientists at Tel Aviv University develop new gene therapy for deafness
A new study from Tel Aviv University (TAU) presents an innovative treatment for deafness, based on the delivery of genetic material into the cells of the inner ear. The genetic material ''replaces'' the genetic defect and enables the cells to continue functioning normally. They maintain that this novel therapy could lead to a breakthrough in treating children born with various mutations that eventually cause deafness. (2020-12-23)

Scientists identify new gene involved in autism spectrum disorder
UT Southwestern scientists have adapted a classic research technique called forward genetics to identify new genes involved in autism spectrum disorder (ASD). In a study published this week in eLife, the researchers used this approach in mice to find one such gene called KDM5A. (2020-12-23)

Triple chemotherapy combination improves metastatic colorectal cancer outcomes
Researchers from SWOG Cancer Research Network, a cancer clinical trials group funded by the National Cancer Institute (NCI), part of the National Institutes of Health, have shown that a triple drug combination -- of irinotecan, cetuximab, and vemurafenib -- is a more powerful tumor fighter and keeps people with metastatic colon cancer disease free for a significantly longer period of time compared with patients treated with irinotecan and cetuximab. (2020-12-23)

How roundworms decide the time is right
The roundworm C. elegans matches its development to the amount of food in its environment. It uses a protein called BLMP-1 to open up a large set of developmental genes, priming them to turn on when food is plentiful. Humans have a protein with a similar function that is known to be overactive in some blood cancers. (2020-12-22)

Diversity, severity of autism symptoms linked to mutation locations
In children with certain autism mutations, the diversity and severity of symptoms are often related to the identity and properties of gene units, called exons, targeted by the mutations. (2020-12-22)

The Achilles' heel of cancer stem cells
Colon cancer stem cells have one weak spot: the enzyme Mll1. An MDC team led by Walter Birchmeier has now shown in Nature Communications that blocking this protein prevents the development of new tumors in the body. (2020-12-21)

Digging deep for differences in Duchenne muscular dystrophy
A UT Southwestern research team has catalogued gene activity in the skeletal muscle of mice, comparing healthy animals to those carrying a genetic mutation that causes Duchene muscular dystrophy (DMD) in humans. The findings, published online recently in PNAS, could lead to new treatments for this devastating degenerative disease and insights into factors that affect muscle development. (2020-12-21)

Scientists uncover mechanisms that wire the brain's cerebral cortex
A research team at the Fralin Biomedical Research Institute at VTC has identified the type of brain cell that produces a protein that is crucial for the formation of inhibitory circuits in the brain. This insight could one day help scientists establish the basis for developing new drugs that mature or repair cellular networks. (2020-12-21)

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