Articles tagged with Mutation
Comprehensive exploration of living organisms, biological systems, and life processes across all scales from molecules to ecosystems. Encompasses cutting-edge research in biology, genetics, molecular biology, ecology, biochemistry, microbiology, botany, zoology, evolutionary biology, genomics, and biotechnology. Investigates cellular mechanisms, organism development, genetic inheritance, biodiversity conservation, metabolic processes, protein synthesis, DNA sequencing, CRISPR gene editing, stem cell research, and the fundamental principles governing all forms of life on Earth.
Comprehensive medical research, clinical studies, and healthcare sciences focused on disease prevention, diagnosis, and treatment. Encompasses clinical medicine, public health, pharmacology, epidemiology, medical specialties, disease mechanisms, therapeutic interventions, healthcare innovation, precision medicine, telemedicine, medical devices, drug development, clinical trials, patient care, mental health, nutrition science, health policy, and the application of medical science to improve human health, wellbeing, and quality of life across diverse populations.
Comprehensive investigation of human society, behavior, relationships, and social structures through systematic research and analysis. Encompasses psychology, sociology, anthropology, economics, political science, linguistics, education, demography, communications, and social research methodologies. Examines human cognition, social interactions, cultural phenomena, economic systems, political institutions, language and communication, educational processes, population dynamics, and the complex social, cultural, economic, and political forces shaping human societies, communities, and civilizations throughout history and across the contemporary world.
Fundamental study of the non-living natural world, matter, energy, and physical phenomena governing the universe. Encompasses physics, chemistry, earth sciences, atmospheric sciences, oceanography, materials science, and the investigation of physical laws, chemical reactions, geological processes, climate systems, and planetary dynamics. Explores everything from subatomic particles and quantum mechanics to planetary systems and cosmic phenomena, including energy transformations, molecular interactions, elemental properties, weather patterns, tectonic activity, and the fundamental forces and principles underlying the physical nature of reality.
Practical application of scientific knowledge and engineering principles to solve real-world problems and develop innovative technologies. Encompasses all engineering disciplines, technology development, computer science, artificial intelligence, environmental sciences, agriculture, materials applications, energy systems, and industrial innovation. Bridges theoretical research with tangible solutions for infrastructure, manufacturing, computing, communications, transportation, construction, sustainable development, and emerging technologies that advance human capabilities, improve quality of life, and address societal challenges through scientific innovation and technological progress.
Study of the practice, culture, infrastructure, and social dimensions of science itself. Addresses how science is conducted, organized, communicated, and integrated into society. Encompasses research funding mechanisms, scientific publishing systems, peer review processes, academic ethics, science policy, research institutions, scientific collaboration networks, science education, career development, research programs, scientific methods, science communication, and the sociology of scientific discovery. Examines the human, institutional, and cultural aspects of scientific enterprise, knowledge production, and the translation of research into societal benefit.
Comprehensive study of the universe beyond Earth, encompassing celestial objects, cosmic phenomena, and space exploration. Includes astronomy, astrophysics, planetary science, cosmology, space physics, astrobiology, and space technology. Investigates stars, galaxies, planets, moons, asteroids, comets, black holes, nebulae, exoplanets, dark matter, dark energy, cosmic microwave background, stellar evolution, planetary formation, space weather, solar system dynamics, the search for extraterrestrial life, and humanity's efforts to explore, understand, and unlock the mysteries of the cosmos through observation, theory, and space missions.
Comprehensive examination of tools, techniques, methodologies, and approaches used across scientific disciplines to conduct research, collect data, and analyze results. Encompasses experimental procedures, analytical methods, measurement techniques, instrumentation, imaging technologies, spectroscopic methods, laboratory protocols, observational studies, statistical analysis, computational methods, data visualization, quality control, and methodological innovations. Addresses the practical techniques and theoretical frameworks enabling scientists to investigate phenomena, test hypotheses, gather evidence, ensure reproducibility, and generate reliable knowledge through systematic, rigorous investigation across all areas of scientific inquiry.
Study of abstract structures, patterns, quantities, relationships, and logical reasoning through pure and applied mathematical disciplines. Encompasses algebra, calculus, geometry, topology, number theory, analysis, discrete mathematics, mathematical logic, set theory, probability, statistics, and computational mathematics. Investigates mathematical structures, theorems, proofs, algorithms, functions, equations, and the rigorous logical frameworks underlying quantitative reasoning. Provides the foundational language and tools for all scientific fields, enabling precise description of natural phenomena, modeling of complex systems, and the development of technologies across physics, engineering, computer science, economics, and all quantitative sciences.
The study found that 2024-2025 COVID-19 vaccines offer protection against COVID-19 hospitalization and severe in-hospital outcomes. Monitoring vaccine effectiveness remains crucial to guide vaccine composition and recommendations.
A Goethe University-led study reveals how mutations in the SPRTN enzyme cause chronic inflammation and premature ageing. The research team found that damaged DNA in the cell nucleus leaks into the cytoplasm, activating defense mechanisms and leading to chronic inflammation.
A study led by Aaron Hobbs and Rachel Burge reveals the distinct cell signaling and tumor microenvironment behind a slower-growing pancreatic tumor mutation. G12R KRAS mutations lead to better patient outcomes, including earlier diagnoses and longer survival times.
The German Research Foundation (DFG) has funded a three-year project to investigate epigenetic memory in nerve cells. The goal is to understand how gene expressions are preserved via epigenetic regulation, which plays a key role in learning ability, memory function, and healthy brain development.
Researchers have identified regions of the human genome particularly prone to mutations, which can be inherited by future generations. The mutated stretches of DNA are located at the start point of genes and are more susceptible to errors during cell division.
Researchers have discovered a new class of BRCA1 mutations that can be targeted by HSP90 inhibitors, potentially improving treatment outcomes for patients with breast cancer. The study found that these mutations are more resistant to PARP inhibitor treatment but can be overcome with low-dose HSP90 inhibition.
Researchers at UC San Diego School of Medicine developed an AI-powered approach to decode macrophage gene expression patterns. They identified a 53-gene signature that separates reactive from tissue-healing macrophages, resolving a longstanding debate in Crohn's disease.
A recent study led by Harvard Medical School researchers found that genetic changes creating identical sperm cells are more widespread than thought and linked to single-gene diseases. The team identified genes underlying these mutations, which can be passed onto offspring, leading to devastating disorders.
Researchers at Charité – Universitätsmedizin Berlin have developed a method to predict the effects of mutations in yeast by analyzing the proteome. The study reveals that small genetic mutations can have significant impacts on cell growth, especially under altered conditions.
Researchers have discovered that certain harmful DNA variations become more common in sperm as men age, raising genetic disease risk for offspring. The study found that around 2-5% of sperm from middle-aged and older men carried disease-causing mutations, with a significant increase in the risk of passing on these mutations to children.
Researchers found that smoking and biological sex shape how normal cells evolve in healthy bladder tissue, with certain mutations gaining an advantage to expand into clones. This study offers new insights into cancer risk and prevention by providing a way to understand tissue evolution and identify early warning signs.
Scientists have developed a DNA nanospring to measure the force of protein motors like KIF1A, which can lead to improved diagnosis and treatment of diseases. The technique uses fluorescent imaging to detect the stretching of the DNA nanospring, allowing researchers to accurately measure the motor's power.
Researchers at CNIO have created a 'human repairome', a catalogue of 20,000 DNA 'scars' that reveal how genes affect DNA repair. This information can help determine the best treatment for each cancer type and overcome resistance to therapy.
A study of 9/11 first responders found mutations in blood-forming cells may explain increased leukemia risk, suggesting a targeted intervention against environmental toxins. The research also identified IL1RAP as a protein culprit, which could be used to prevent or treat blood cancers in individuals exposed to similar disasters.
The CityUHK team is developing two core therapeutic medicines using state-of-the-art DNA surgery technology to treat liver and cardiovascular genetic diseases. Their approach offers a durable and long-lasting solution, eliminating the need for repeated medications.
Researchers have discovered a single drug that can stabilize nearly all mutated versions of a human protein, offering a potential solution for rare diseases. The oral medicine tolvaptan restored receptor levels to near-normal in 87% of destabilized mutations.
Scientists at UCSF successfully used CRISPRa to increase SCN2A levels in mice with the genetic disorder, resulting in reduced seizures and improved brain function. The therapy offers hope for treating neurodevelopmental issues related to SCN2A haploinsufficiency.
A new study finds that a specific mutation in the human APOL1 gene arose more frequently where it was needed to prevent disease, supporting a non-random pattern. This challenges the long-held notion of evolution driven by random mutations and introduces a new theory on how mutations arise.
Two new studies from Karolinska Institutet investigate how somatic mutations in muscles and blood vessels affect ageing. The results show that such mutations can reduce muscle strength and accelerate blood vessel ageing.
A University of Missouri-led study has uncovered how poplar trees can naturally adjust a key part of their wood chemistry based on changes in their environment, supporting improved bioenergy production. The discovery sheds light on the role of lignin and its potential to create better biofuels and sustainable products.
Researchers found that individuals with a mutation in the TTN gene are 21 times more likely to develop dilated cardiomyopathy than those without. Lifestyle factors such as being overweight or having high alcohol consumption contribute to an earlier diagnosis, and men with the mutation are more likely to develop DCM at a younger age.
Researchers from University of Zurich and Basel decode historical specimen to understand how 1918-1920 influenza pandemic evolved in Europe. The Swiss genome reveals three key adaptations that made the virus more resistant to human immunity and more infectious.
Researchers identified a novel homozygous nonsense mutation in DLGAP5 responsible for human female infertility. The mutation led to abnormal oocyte maturation and impaired embryo development, with no cleavage embryos developing into blastocysts.
Researchers at the University of Sydney developed a biological 'artificial intelligence' system called PROTEUS, which can accelerate cycles of evolution and natural selection to create molecules with new functions in weeks. The system has potential applications in finding new medicines and improving gene editing technology like CRISPR.
A new study reveals that air pollution contributes to the development of lung cancer in people with no or hardly any history of smoking. The study found a strong association between air pollution and genetic mutations in lung tumors, particularly driver mutations that promote cancer development.
Researchers found that combining selinexor with Irinotecan shrunk tumors in preclinical models of colorectal cancer, suggesting a new potential treatment. The study also identified XPO1 mutations linked to rare cancers like endometrial cancer and found that these mutations make cells resistant to chemotherapy.
Researchers identified a gene mutation that disrupts iron absorption in patients with Crohn's disease, leading to persistent anemia. The study sheds light on how genetic risk factors for IBD can compound patient symptoms by interfering with nutrient absorption.
The foundation recognizes five early-career scientists who apply computational methods to cancer research, with a focus on developing new protein designs and understanding chromatin modifications. Their work aims to improve treatment strategies and precision oncology for various cancers.
Researchers found that accumulated mitochondrial DNA mutations do not impair respiratory function in mice, contradicting the 'mitochondrial theory of aging'. This study suggests a reevaluation of the relationship between mtDNA mutations and premature aging symptoms.
Researchers discovered that certain immune cells in the gut of refractory coeliac disease patients carry genetic mutations, driving ongoing intestinal inflammation and symptoms. The study's findings suggest a new way to diagnose and potentially treat the most severe form of coeliac disease.
A recent study found that a protein called URI degrades p53, leading to uncontrolled cell proliferation and tumour formation. Researchers have identified URI as a crucial regulator of p53 levels, which may be associated with environmental factors such as poor diet.
A new machine learning model accurately predicts the fitness of AAV capsids based on their amino acid sequence, enabling more efficient and cost-effective gene therapies. The model's robustness and generalizability have been demonstrated through tests on independent datasets, offering a promising tool for capsid engineering.
Aging-associated mutations in the Dnmt3a gene boost mitochondria power in blood stem cells, leading to clonal hematopoiesis. New mitochondrial-targeting drugs show promise in treating age-related illnesses by selectively weakening mutated cells without impacting normal ones.
Researchers from Chiba University identified a previously unreported gene, LIRI1, which plays a crucial role in regulating the balance between starch and lipid storage in plant leaves. The study suggests that LIRI1 promotes carbon allocation by activating starch production and inhibiting starch degradation.
A new study has revealed that Beagle dogs carrying mutations in the Shank3 gene exhibit face processing abnormalities, similar to those observed in human ASD patients. The research provides direct experimental evidence that mutations in Shank3 lead to ASD-like deficits in face processing, contributing to social impairments.
A clinical study confirms that early treatment with fosdenopterin/rcPMP significantly reduces the risk of early death and promotes healthy brain development in infants with MoCD type A. The therapy restores the missing molybdenum cofactor, leading to improved developmental milestones.
Researchers develop AI model to predict novel mutations in protein sequences, combining grammatical and semantic changes. The method uses all available information about the sequence and mutations to create a more accurate prediction model.
Scientists found that piRNA rapidly catches up with changes in jumping genes, improving efficiency through a competition between sites. This unique property of piRNA has implications for medical research and potential diagnostic or therapeutic strategies against unwanted genetic mutations.
Researchers found that detectable mutant KRAS circulating tumor DNA (ctDNA) indicates a higher risk of cancer spread and worse survival rates for patients with pancreatic ductal adenocarcinoma. The study suggests that ctDNA assays should be performed prior to treatment to have the highest yield.
Myotonic Dystrophy Type 1 affects multiple organs, including the heart, and is caused by a mutation in the DMPK gene that leads to disrupted RNA processing. Researchers at Baylor College of Medicine tested MBNL overexpression in a mouse model, achieving partial rescue of cardiac phenotypes.
Scientists discovered a protective variant of the HAQ-STING gene that prevents COPA Syndrome. This finding opens the door to a new gene therapy for the condition, which currently has no cure.
Researchers have identified a new variant, clade 1b, of the mpox virus that has become more infectious and is spreading rapidly across borders. The study found that this variant primarily spreads through heterosexual contact in densely populated areas, with an estimated fatality rate of 3.4%.
Researchers discovered immune cells that can recognise influenza (flu) viruses even as they mutate, providing a potential solution to the annual updates of flu vaccines. The study found that certain T cells, which play a critical role in fighting infections, can detect multiple flu strains, even those that have evolved over a century.
Researchers developed a powerful tool to detect SARS-CoV-2 variants with high transmission potential, pinpointing exact mutations driving spread. The model focuses on spike protein and other parts of the virus, enhancing ability to bind human cells and evade immune systems.
Researchers found a genetic change, pR552*, that could give the RB1 gene a new function leading to cancer growth. This challenges the common belief that both copies of the RB1 gene must be damaged for cancer to develop.
A new study reveals a link between genetic mutations and epigenetic modifications, challenging the current anti-aging strategies based on epigenetic clock theory. The research found that mutations can cause a cascade of epigenetic changes across the genome, making it harder to reverse aging than previously thought.
Two non-retinoid compounds were identified that improve cell surface expression of rhodopsin in 36 genetic subtypes of retinitis pigmentosa and protect against retinal degeneration in mice with the disease. The treatment showed improved overall retina health and function, prolonging photoreceptor survival.
Scientists have discovered how a mutated ASXL1 gene disrupts normal blood cell development, leading to diseases such as clonal hematopoiesis and malignant leukemias. The study reveals that mutated ASXL1 causes heterochromatin dysfunction, silencing genes essential for blood cell maturation.
Researchers at UTHealth Houston have discovered two novel genes, DYRK1A and EGFR, linked to genetic mutations causing epileptic brain lesions. This breakthrough offers a new framework for understanding epilepsy and developing targeted therapies.
Sylvester Comprehensive Cancer Center offers expert advice on coping with holiday loss and grief. Biological age can predict early colorectal cancer risk, while research advances may lead to a cure for multiple myeloma. Blood cancer experts share insights into new treatments.
The study found that smokers with myelodysplastic syndromes (MDS) or precursor conditions had elevated levels of genetic mutations linked to the disease. Heavier smokers accumulated more mutations, and long-term smokers were more likely to show disease progression.
Researchers discovered a single mutation in the H5N1 virus that improves its ability to attach to human cells, potentially making it easier for humans to become infected. The study's findings stress the importance of continued genomic surveillance and public health preparedness to monitor potential genetic changes.
Researchers discovered a single amino acid mutation in the H5N1 'bird flu' virus that enhances its ability to attach to human cells, potentially increasing the risk of person-to-person transmission. The finding highlights the need for ongoing surveillance of H5N1 mutations that pose risks to public health.
A new gene drive technology, known as e-Drive, has been developed to reverse insecticide resistance in pests by replacing mutant genes with native ones. The system is designed to spread and then disappear, leaving only a population of insects susceptible to pesticides.
Scientists have discovered a weakness in antibiotic-resistant bacteria that can be exploited to stop the spread of this public health crisis. By understanding the link between magnesium limitation and ribosome variants, researchers may develop novel drug-free approaches to combat antibiotic resistance.
Researchers at Ohio State University found that IFITM3 deficiency increases the risk of flu infection by unfamiliar viruses, allowing them to adapt rapidly to human hosts. The study suggests that people with IFITM3 deficiency are a uniquely vulnerable population for new animal viruses entering humans.
A team of researchers has identified a mechanism that interferes with the splicing process in a more subtle way, leading to cell death. The study reveals that spliceosome subunits U4, U5, and U6 are normally stabilized by protein USP39, but when mutated or absent, stability is compromised, causing incorrect connections during splicing.
Researchers discovered a protective inherited mutation in the ADNP gene that enhances protein interactions and offers protection against developmental disorders. The study challenges previous assumptions about genetic mutations and their impact on brain development.
Researchers successfully delivered anti-cancer ASO molecules to lung tumor sites using human red blood cells, demonstrating potent anti-cancer effects against NSCLC. The approach utilizes EGFR-targeting moieties to home in on cancerous cells, offering a potentially powerful treatment modality for personalized cancer medicine.
Researchers discovered a new role of mutant RAS genes in driving tumor growth beyond their well-known signaling function. Combining RAS inhibitors with targeted cancer drugs that reactivate tumor suppressor activity had potent activity against cancer.