Current Mutation News and Events

Current Mutation News and Events, Mutation News Articles.
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CovMT: Tracking virus mutations across the world
An interactive platform helps users visualize where SARS-CoV-2 mutations start, how wide they spread and how infectious they are. (2021-02-21)

Spina bifida can be caused by uninherited genetic mutations
Genetic mutations which occur naturally during the earliest stages of an embryo's development can cause the severe birth defect spina bifida, finds a new experimental study in mice led by UCL scientists. (2021-02-19)

Mutation in SARS-CoV-2 spike protein renders virus up to eight times more infectious
A mutation in the spike protein of SARS-CoV-2--one of several genetic mutations in the concerning variants that have emerged in the United Kingdom, South Africa, and Brazil -- makes the virus up to eight times more infectious in human cells than the initial virus that originated in China, according to research published in the journal eLife. (2021-02-17)

New classification of leukemia subtypes reveals potential of existing drugs
Using advanced RNA sequencing, scientists have identified two unique subtypes of a prominent mutation present in many patients with Acute Myeloid Leukemia (AML) - called NPM1 - that could help predict survival and improve treatment response for patients whose leukemic cells bear the mutation. (2021-02-16)

Study demonstrates the reasons to screen children with cancer for inherited cancer genes
Experts at MSK Kids, the pediatric oncology program at MSK, have found that inherited cancer genes are more common than expected in children with cancer. (2021-02-16)

Researchers identify a new molecular mechanism related to severe anaphylaxis
In a study led by researchers of the University of Barcelona and IDIBAPS, researchers analyzed the mutation of a gen detected in a patient who suffered from recurrent anaphylactic shocks caused by the allergy to paper wasp venom (Polistes dominula). The results, published in the Journal of Allergy and Clinical Immunology, revealed a new molecular mechanism that can control the degree of severity in an anaphylactic reaction. (2021-02-09)

Unusual DNA folding increases the rates of mutations
DNA sequences that can fold into shapes other than the classic double helix tend to have higher mutation rates than other regions in the human genome. New research shows that the elevated mutation rate in these sequences plays a major role in determining regional variation in mutation rates across the genome. (2021-02-09)

Study highlights risk of new SARS-CoV-2 mutations emerging during chronic infection
SARS-CoV-2 mutations similar to those in the B1.1.7 UK variant could arise in cases of chronic infection, where treatment over an extended period can provide the virus multiple opportunities to evolve, say scientists. (2021-02-05)

New research sheds light on vision loss in Batten disease
Progressive vision loss, and eventually blindness, are the hallmarks of juvenile neuronal ceroid lipofuscinosis (JNCL) or CLN3-Batten disease. New research shows how the mutation associated with the disease could potentially lead to degeneration of light sensing photoreceptor cells in the retina, and subsequent vision loss. (2021-02-05)

Researchers replicate a potential step of the fin-to-limb transition in zebrafish
By tweaking a single gene, scientists engineered zebrafish that show the beginnings of limb-like appendages. The researchers stumbled upon this mutation, which may shed light on the sea-to-land transition of vertebrates, while screening for gene mutants and their impact on fish development. Their discovery, outlined February 4th in the journal Cell, marks a fundamental step in our understanding of fin-to-limb evolution and how simple genetic changes can create leaps in the development of complex structures. (2021-02-04)

Solving a puzzle
University of New Mexico scientists tease out the underlying mechanism of tuberous sclerosis complex (2021-02-03)

The underestimated mutation potential of retrogenes
mRNA molecules from retrogenes are reverse transcribed to DNA and incorporated into the genome. (2021-02-02)

Unraveling the mystery of Gao, a protein implicated in movement disorders
Scientists at Scripps Research have clarified the workings of a mysterious protein called Gao, which is one of the most abundant proteins in the brain and, when mutated, causes severe movement disorders. (2021-02-02)

New technique identifies important mutations behind Lynch Syndrome
A Michigan Medicine team describes a method for screening so-called genetic variants of uncertain significance in the hopes of identifying those mutations that could cause cancer. (2021-01-29)

Rare genetic syndrome identified, caused by mutations in gene SATB1
Variations in the gene SATB1 have been shown to cause a rare genetic syndrome. Different variations across the gene lead to varied effects on the cell, leading to a difference in the severity of neurodevelopmental disorders. Discovery of this genetic syndrome is hoped to provide information to families and individuals affected by SATB1-syndrome. (2021-01-28)

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)

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)

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)

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)

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)

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)

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)

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)

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)

Antifungal drug improves key cystic fibrosis biomarkers in clinical study
A drug widely used to treat fungal infections improved key biomarkers in lung tissue cultures as well as in the noses of patients with cystic fibrosis, a clinical study by researchers at the University of Illinois Urbana-Champaign and the University of Iowa found. (2020-12-17)

The DNA regions in our brain that contribute to make us human
With only 1% difference, the human and chimpanzee protein-coding genomes are remarkably similar. Understanding the biological features that make us human is part of a fascinating and intensely debated line of research. Researchers at the SIB Swiss Institute of Bioinformatics and the University of Lausanne have developed a new approach to pinpoint, for the first time, adaptive human-specific changes in the way genes are regulated in the brain. (2020-12-16)

Clemson researcher identifies gene teams working in subregions of brain
You must first understand how something works normally before you can figure out why it's broken. Clemson University researcher Yuqing ''Iris'' Hang has identified six mini gene co-expression networks for a normally functioning brain. That will allow researchers to test each of the gene teams to see if gene pairs are changing in brain tumors or people with intellectual disabilities. (2020-12-16)

Two-year study details dynamics of Huntington's disease markers in patients
A new two-year longitudinal study reveals how two proteins linked to Huntington's disease - an incurable neurodegenerative disorder - change over time in patients and in as-yet asymptomatic people who carry a mutation that causes the condition. (2020-12-16)

Novel genomic tools increase the accuracy of breast cancer risk assessment
Findings from the FinnGen study encompassing 120,000 women indicate that inherited breast cancer risk should be assessed in an increasingly comprehensive manner. Currently, only individual gene mutations are taken into consideration in breast cancer therapy and prevention. The study demonstrates that more extensive genomic data can be used to identify women who are at high risk of breast cancer with considerably greater accuracy. Such knowledge can especially improve risk assessment among the close relatives of breast cancer patients. (2020-12-14)

A human gene placed in fruit flies reveals details about a human developmental disorder
Meier-Gorlin syndrome, or MGS, is a rare genetic developmental disorder that causes dwarfism, small ears, a small brain, missing patella and other skeletal abnormalities. One mutation causing MGS, first reported in 2017, is a Lysine 23 to Glutamic acid (K23E) substitution in the gene for Orc6. Researchers have now put that mutant human gene into fruit flies to probe the function of Orc6 K23E. (2020-12-14)

Study reveals distinct genomic landscape for young adults with appendiceal cancer
The first study to compare molecular landscapes of early-onset and late-onset appendiceal cancer has revealed distinct non-silent mutations in the tumors of younger patients, setting the stage for the development of potential therapeutic advances for this rare disease. (2020-12-09)

NIH researchers link cases of ALS and FTD to a Huntington's disease-associated mutation
A study led by researchers at the National Institutes of Health has made a surprising connection between frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), two disorders of the nervous system, and the genetic mutation normally understood to cause Huntington's disease. This large, international project, which included a collaboration between the National Institute of Neurological Disorders and Stroke (NINDS) and the National Institute on Aging (NIA), opens a potentially new avenue for diagnosing and treating some individuals with FTD or ALS. (2020-12-04)

Circadian gene mutation increases self-administration of cocaine in mice
University of Pittsburgh researchers reveal a molecular basis for the deep and fundamental connection between the disruption in circadian rhythms and predisposition to substance abuse. (2020-12-02)

SARS-CoV-2 mutations do not appear to increase transmissibility
None of the mutations currently documented in the SARS-CoV-2 virus appear to increase its transmissibility in humans, according to a study led by UCL researchers, published in Nature Communications. (2020-11-25)

First large-scale proteogenomic analysis offers insights into pediatric brain tumors
A comprehensive ''proteogenomic'' analysis of the proteins, genes, and RNA transcription involved in pediatric brain tumors has yielded a more complete understanding of these tumors, which are the leading cause of cancer-related deaths in children. The results could help physicians more accurately identify different types of tumors and methods for treating them. (2020-11-25)

BICRA gene provides answers to patients, doctors and scientists
Researchers identified the BICRA gene as a new disease gene involved in a neurodevelopmental disorder and found evidence that BICRA functions in neural development in humans and flies. (2020-11-23)

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