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.
Researchers at Penn State developed a new method to turn stripped-down plant cells into other types of cells, revealing the banding patterns in plant cell walls that increase stability. The study's findings provide insights into how cell walls are created and can inform methods to break down plant cells for biofuels.
Researchers at Osaka Metropolitan University have discovered a key protein involved in transporting boron into plant cells. The protein complex, containing KNS3 and its homologs, facilitates the movement of boric acid channels from endoplasmic reticulum to plasma membrane.
Treatment-emergent nirmatrelvir resistance mutations were commonly detected in immunosuppressed individuals, but at low frequencies and transient nature. The study suggests a low risk for the spread of nirmatrelvir resistance in the community with current variants and drug usage patterns.
A new individualized risk prediction tool has been developed to predict the severity of heart disease in people suffering from Long QT syndrome. The test analyzes genetic mutations associated with the condition and can identify those at high risk of sudden cardiac death, allowing for tailored treatment.
Researchers developed a compact 'gene scissor' tool, TnpB, which shows a 4.4-fold increase in efficiency of modifying DNA, making it more effective as a gene editing tool. The tool can be used to treat patients with familial hypercholesterolemia, reducing cholesterol levels by nearly 80%.
Researchers at Osaka Metropolitan University used CRISPR/Cas9 to create a strain of Euglena that produces wax esters with shorter carbon chains, improving their cold flow and suitability as a biofuel feedstock. This breakthrough could potentially replace petroleum-based production of wax esters with biological sources.
Researchers are decoding genetic mutations in high-risk genes for neurodevelopmental and psychiatric disorders, including schizophrenia and depression. A new collaborative project aims to characterize the genetic origins of these disorders using human stem cells.
A novel network computer model, DiWANN, allows for efficient searches of cancer genetic data, identifying co-occurring mutations and similarities among DNA sequence elements across several types of cancer. The model provides a scalable solution to prioritize possible treatment targets.
A study published in Kidney International Reports identified mutations in the IFT140 gene as a potential cause of polycystic kidney disease in patients without a family history. The findings suggest that these patients may be underdiagnosed due to mild symptoms and atypical kidney characteristics.
Researchers at UCSF develop a method to target GTPases, enzymes involved in Parkinson's and many other diseases, by using drugs targeting the K-Ras oncogene. This approach reveals new drug binding sites that could not be predicted by computational tools.
A new study reveals that the menstrual cycle plays a role in spreading mutant cells within mammary tissue, leading to large fields prone to tumor formation. Researchers observed that the growth and removal of extra milk ducts during the menstrual cycle can contribute to this process.
Researchers identified a genetic mutation that impairs virus replication in human cells, leading to asymptomatic infections. The same mutation enhances transmission in Aedes aegypti mosquitoes, allowing the virus to spread without triggering an outbreak.
Researchers used AlphaFold2 to predict structural effects of mutations on protein stability, finding correlations between small structural changes and stability changes. This breakthrough opens up new possibilities for protein engineering, enabling scientists to design proteins with specific functions more effectively.
Silent gene mutations may have significant consequences beyond their own gene, according to a study published in the Proceedings of the National Academy of Sciences. Researchers found that synonymous mutations in one gene can increase the production of a neighboring gene by recruiting RNA polymerase to cryptic transcription sites.
Researchers discovered a pheromone receptor that controls parenting behavior in African cichlid fish. The study found that males with a specific genetic mutation picked up eggs in their mouths, taking on the role of 'mouthbrooding' dads.
Scientists at IRB Barcelona have discovered a link between gene copy number alterations and mutations in tumour suppressor genes, which could lead to new cancer treatments. The study found that both increases and decreases in the number of gene copies can drive cancer evolution.
A new study published in Nucleic Acid Therapeutics found that siRNA reduces huntingtin mRNA levels in the cytoplasm but not in the nucleus of mouse brains, suggesting a limitation in its effectiveness for treating Huntington's disease. The research highlights the importance of understanding the structure and function of nuclear RNA to ...
A new genetic test has identified a mutation causing progressive retinal atrophy (PRA) in English Shepherd Dogs, allowing breeders to eliminate the disease from their population. The test is available for purchase and will help prevent the disease from being passed on to puppies.
Research reveals native plants and non-native crops attract pests that spread diseases, causing harm to both plant populations. The studies also found viruses transmitted from crops to wild plants, which can have devastating effects on native ecosystems.
A new study has identified potential cancer drivers hidden in so-called 'junk' regions of DNA, which could lead to early diagnosis and new treatments. The discovery reveals mutations in previously overlooked regions of the genome that may contribute to the formation and progression of at least 12 different cancers.
Researchers at Istituto Italiano di Tecnologia and EMBL unveiled how to modulate gene expression using small molecules. The study aims to develop new drugs specific to genetic mutations or alterations responsible for the onset of tumors or genetic diseases.
A recent study by Tokyo Medical and Dental University researchers suggests that a specific variant of the CARD9 gene prevalent across northern China, Korea, and Japan may have originated from a common ancestor. The c.820dup variant was found to be relatively common in China and has been estimated to be between 2,000 and 4,000 years old...
A team of researchers led by Virginia Tech's Shuhai Xiao discovered a 550 million-year-old sea sponge that challenges previous theories about its evolution. The fossil, found in China, suggests that early sponges may have had soft-bodied skeletons and only later developed mineralized structures.
A team of researchers from Xi'an Jiaotong-Liverpool University has engineered a short sequence of artificial DNA to target the mutant protein p53-R175H, linked to lung, colorectal, and breast cancers. The new molecule, dp53m, inhibits cancer cell growth and increases sensitivity to chemotherapy agent cisplatin.
Researchers have found that approximately one in 40 human bone marrow cells carry massive chromosomal alterations without causing any apparent disease or abnormality. Cell samples from people over 60 tend to have higher numbers of cells with such genomic alterations, suggesting a possible connection to ageing-related diseases.
Researchers have developed a non-invasive optical-acoustic imaging method using short laser pulses to create images of muscle tissue. This breakthrough technology has the potential to improve diagnosis and treatment of spinal muscular atrophy (SMA), a rare genetic disorder causing muscle degeneration.
Researchers found that ARID1A mutation renders tumors sensitive to immunotherapy by triggering an antiviral immune response. This could lead to improved patient outcomes and the development of targeted therapies.
Scientists have discovered 17 new genes involved in clonal haematopoiesis, a process associated with ageing linked to increased risks of blood cancers. The findings highlight the clinical significance of these genes in driving mutant blood cell clones, offering new avenues for studying disease development and promoting healthier ageing.
A team of researchers from the University of Chicago has identified a genetic mutation in a non-coding region of DNA that alters thyroid hormone regulation, leading to a rare form of congenital thyroid abnormality. This discovery sheds light on a previously unexplained phenomenon and may lead to new treatments for individuals with this...
Glioblastoma cancer cells change their appearance and behavior to evade T-cell attack, rendering immunotherapy ineffective. Researchers found that these 'plastic' cells can also exhaust T-cells, making glioblastoma resistant to treatment.
Researchers discovered that known genetic variants account for a large portion of chronic kidney diseases with unknown origin. The study found that 10% of patients had pathogenic variants in CKD-causing genes, and some hereditary renal diseases could be diagnosed and treated early on to slow down disease progression.
A study by Washington State University found that cats with the MDR1 genetic mutation are at high risk of experiencing serious adverse effects from products containing eprinomectin. Cats without this mutation appear safe when using these products, but many cases of severe reactions have been reported.
Researchers found that Black individuals carrying genetic variants in the Titin, TTN gene have a high risk of developing atrial fibrillation, heart failure, and dilated cardiomyopathy. The study used data from the All of Us Research Program to examine the role of these genetic mutations in African ancestry individuals.
A genetic mutation in a quarter of all Labradors hard-wires them for obesity, making them hungrier between meals and burning fewer calories. Owners must be strict with feeding and exercising their dogs to keep them slim.
A family in Colombia has provided valuable insights into the genetic form of Alzheimer's disease. Researchers found that individuals with the mutation develop sticky plaques between neurons prematurely, differing from sporadic cases. The study suggests distinct treatment approaches may be needed for early-onset and sporadic cases.
Researchers highlight difficulties in targeting metastatic tumors and propose two- and three-drug combinations to achieve effective tumor control. They also emphasize the need for simultaneous blocking of primary driving oncogene, evolving resistance mechanism, and secondary survival pathway.
A recent study published in Cell Genomics has uncovered the quantitative and qualitative mutational impacts of ionizing radiation on normal cells. The research team found that exposure to low levels of radiation resulted in an average of 14 mutations per cell, primarily causing short base deletions and complex genomic rearrangements.
Researchers have developed One-pot DTECT, a compact kit that can detect genetic signatures with high accuracy, enabling rapid point-of-care diagnosis for various applications. The tool has been shown to identify genetic mutations in sickle cell anemia patients and carriers with 100% accuracy.
A rare disorder causing extra fingers and toes has been identified through research led by the University of Leeds, linked to a genetic mutation in the MAX gene. The study found a molecule that could potentially treat neurological symptoms associated with the condition.
Researchers analyzed genome sequences from over 4,000 tumours to identify patterns of DNA mutations that vary between individuals. They found 13 distinct patterns, with 10 corresponding to different types of tissue, and discovered that the density of mutations in specific genes varies significantly between individuals.
The BA.2.86 omicron subvariant can infect human lung cells more efficiently than previous omicron variants, raising concerns about potential severe disease symptoms. While bivalent mRNA vaccines can neutralize BA.2.86, the efficiency is reduced, emphasizing the importance of getting a newer booster vaccine.
Mayo Clinic researchers used genetic sequencing to study the measles virus's spread in a human brain. The study found that the virus acquired distinct mutations that drove its spread from the frontal cortex outward. This knowledge may help develop effective antiviral drugs to combat SSPE, a rare and lethal brain disease caused by measles.
Researchers at UC Riverside found that SARS-CoV-2 entry varies among different species and tissue types, highlighting the need for thorough investigations into viral entry mechanisms. The study's findings suggest that targeting TMPRSS2 may not be effective in preventing COVID-19 infection in mink.
A new study by Tulane University has identified a previously unknown molecular pathway that could halt lung cancer growth. The research found that protein RBM10 can suppress lung cancer by targeting the function of c-Myc, a protein that drives cancer cell growth and proliferation.
A computer simulation by Nagoya University researchers found that human behavior, such as lockdowns and isolation measures, influenced the evolution of new COVID-19 strains. The study discovered that SARS-CoV-2 variants with higher peak viral loads were more successful at spreading, but also had shorter infection durations.
A Phase II clinical trial has shown a clear clinical benefit of combining Dabrafenib and Trametinib in treating BRAF mutated low-grade paediatric gliomas. The combination therapy improved overall response rate by over four-fold and increased median progression-free survival.
Researchers identified genetic mutations in peas that enable high iron accumulation, opening doors for biofortification of staple crops like wheat and barley. This breakthrough has the potential to reduce iron deficiency anaemia globally.
A study published in Oncotarget reveals that HER2 mutant alleles play a crucial role in determining treatment response to neratinib and poziotinib. Researchers found that individual HER2 mutant alleles have distinct effects on therapeutic efficacy, suggesting new targets for breast cancer therapy.
Researchers discovered a malaria protein, PfAP2-P, that plays a key regulatory role in immune evasion and parasite development. This protein acts as an activator of proteins required for the parasite to exit infected red blood cells and invade new ones.
A study found that people with a specific genetic mutation in the CARD9 gene have higher IL-17 protein levels, making them more responsive to IL-17 inhibitor biologics. This discovery may lead to targeted treatment recommendations for ankylosing spondylitis patients.
A new study reveals that immunity to SARS-CoV-2 variants depends on previous exposure and vaccination history. The research found significant differences in immune responses to various variants, highlighting the need for personalized vaccine approaches.
Researchers found that antigen testing significantly reduces the probability of cluster occurrence by identifying and isolating infected persons. However, it may not be effective against highly infectious mutant strains like Omicron, highlighting the need for booster vaccination campaigns and other infection control measures.
Researchers at Kyoto University discovered that liverwort Marchantia polymorpha uses gibberellin precursors to produce a signaling molecule aiding survival under shaded conditions. This metabolic pathway inheritance provides insight into the evolution of plant hormone responses.
Researchers discovered that a mutation in the gene ACTA2 causes moyamoya disease and strokes in young children. The mutation leads to dysfunctional smooth muscle cells in arteries, resulting in blockages and increased risk of stroke. Understanding this mechanism could lead to new treatments for moyamoya disease.
Researchers identified two SARS-CoV-2 protein mutations linked to severe COVID-19 symptoms and increased inflammation. The mutations, known as KR, were found in patients with higher viral loads and more severe symptoms.
Researchers at Osaka University have developed a new gene editing technique called NICER, which significantly reduces off-target mutations compared to traditional CRISPR/Cas9 methods. This novel approach uses multiple small cuts in DNA strands and promotes interhomolog homologous recombination to correct heterozygous mutations.
A new study led by Dr. Armen Saghatelyan uncovered the migratory mechanisms of neuronal cells in a neurodevelopmental disorder. The team found that modulating autophagy with FDA-approved drug metformin restored the cells' migratory properties.
A study published in EMBO Molecular Medicine has identified the cellular processes that lead to Parkinson's disease in patients with CHCHD2 gene mutations. The research found that a specific protein, casein kinase 1 epsilon/delta (Csnk1e/d), plays a crucial role in the disease's pathogenesis.
The study reveals that magnesium transport proteins are essential for plant metabolism and chloroplast functioning, impacting growth and yield. The analysis of three newly identified magnesium release and transporter proteins shows their importance in photosynthesis.
Researchers used base editors to introduce specific combinations of activating and inactivating mutations into healthy organoids, creating realistic models for various types of cancer. This allows for further investigation into the development and treatment of cancer, with potential applications including testing new drugs.