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.
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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.
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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 have developed a new technique called Orion to flag regions of the non-coding genome that are likely to contain disease-causing genetic changes. This method identifies stretches of DNA that vary little from person to person, which are most likely doing something important and more likely to cause disease.
A team led by Dr. Rena D'Souza aims to identify the relationship between PAX9 and WNT pathways in permanent tooth formation. The goal is to develop new therapies that reestablish normal interaction between genes and pathways to restore tooth development.
The Jackson Laboratory will investigate a new mouse model for amyotrophic lateral sclerosis (ALS) with a $3.2 million federal research grant. The study aims to link genetic mutations in the mouse models to human ALS or other neuromuscular diseases.
A study found that specific genetic mutations and inherited genes may contribute to hemiplegic cerebral palsy. Mutations in certain parts of an individual's genetic makeup were identified, with some variations being inherited from parents.
Researchers identified a new genetic mutation that prevents sperm production in five men from a single Bedouin family. The mutation inactivates the function of the gene TDRD9, which normally protects full DNA sequence in sperm, leading to azoospermia.
Scientists successfully corrected a disease-causing mutation in human embryos using CRISPR-Cas9, increasing the probability of inheriting a healthy gene from 50% to 72.4%. The technique also revealed an alternative DNA repair system in human embryos.
Researchers successfully corrected a genetic mutation causing hypertrophic cardiomyopathy in human embryos, preventing its inheritance. The technique could apply to thousands of inherited genetic disorders and increase IVF success rates.
The lab, led by Zhe Han, Ph.D., aims to identify key histone-modifying genes involved in heart development and create personalized fly models for individual patients. By understanding the role of these genes, researchers hope to predict CHD risk and potentially cure the condition using gene-editing approaches.
A study sequenced genomic DNA of Ashkenazi Jewish women with breast cancer, revealing a higher prevalence of non-BCRA mutations in BRCA1 and BRCA2. The findings suggest that genetic testing for all breast cancer genes may benefit these patients.
Researchers have developed a gene-editing technique using CRISPR that can introduce beneficial mutations into blood cells, potentially treating sickle cell anaemia and other blood disorders. The British-198 mutation already exists in nature and has been shown to boost foetal haemoglobin production.
A consortium of researchers has performed a comprehensive genomic sequencing analysis of hundreds of patients with T-lineage acute lymphoblastic leukemia, revealing new mutations and drug targets. The study identified 106 driver genes associated with cancer, including previously unrecognized mutations.
A study has identified a common gene mutation linked to retinitis pigmentosa in Hispanic families from the Southwestern US, with over 70 genes now known to cause the disease. The researchers found that a dominant mutation in the arrestin-1 gene is responsible for 36% of cases, offering hope for future treatments and therapies.
Researchers found that high suPAR protein levels combine with common genetic mutation to trigger disease onset and define rate of progression. The study used large cohorts of black patients with genetic risk factors for chronic kidney disease and found that plasma suPAR levels predict renal function decline.
Researchers have identified a genetic modifier associated with the rate of progression in Huntington's disease. The study used high-quality data from two cohorts and found a significant result linked to the MSH3 gene.
Researchers at Osaka University found a new mutation in the MUC1 gene that may act as an early marker of medullary cystic kidney disease type 1 (MCKD1). The mutation was discovered through whole-exome sequencing and suggests a potential biomarker for non-genetic testing to evaluate the risk of MCKD1.
A new software tool called Mendel,MD can help doctors analyze patients' genetic data to diagnose diseases caused by mutations. Developed for easy use by physicians, the tool is freely available and has been validated using clinical cases and tests at multiple research centers.
A recent dog DNA study has uncovered a genetic mutation linked to flatter faces in breeds like pugs and bulldogs. Researchers used CT scans to measure skulls and compared the results with genetic data, identifying variations associated with brachycephaly.
A genetic study led by UC Davis has identified a mutation in horses that may contribute to squamous cell carcinoma, the most common cancer found in equine eyes. This discovery offers hope for early detection and treatment of ocular SCC, potentially improving horse health and informing breeding decisions.
Researchers at the Universities of Birmingham and Newcastle studied DNA of two types of acute myeloid leukemia to explain clinical prognosis differences. They discovered how oncogenes reprogram blood stem cells, leading to variable treatment responses.
Scientists at the University of Pittsburgh School of Medicine have identified two genes, Sap130 and Pcdha9, that play a crucial role in causing hypoplastic left heart syndrome (HLHS). The study reveals that mutations in these genes can cause HLHS by compromising blood flow to the body.
A genetic mutation contributing to childhood blindness has been identified in patients with ocular coloboma, a condition resulting in part of the eye being missing at birth. The study revealed mutations in 10 genes linked to actin activity, affecting eye development.
Scientists at MU used whole genome sequencing to identify genetic variants causing rare diseases like progressive retinal atrophy and Niemann-Pick type 1 in domestic cats. This helps feline preservationists implement breeding strategies for endangered species.
A new study sequencing 80 silver birch genomes reveals genetic mutations influencing tree growth, wood production, and environmental adaptations. These findings hold potential for breeding trees better suited to various industries and climates.
Researchers identified a genetic mutation responsible for keratolytic winter erythema (KWE), a rare skin disorder prevalent among Afrikaners. The discovery enables dermatologists to diagnose KWE in patients and provides a starting point for developing potential treatments.
A novel dietary supplement has been shown to reverse cellular damage caused by specific genetic mutations in the kidneys of transgenic fruit flies. The study provides a personalized model for testing novel therapies for rare diseases such as focal segmental glomerulosclerosis (FSGS), which currently lack treatment options.
Scientists have discovered thousands of rare genetic mutations contributing to cancer growth, focusing on shared protein domains. These findings could guide the development of treatments targeting multiple mutated proteins simultaneously.
The new blood test can accurately and quickly identify genetic mutations associated with NSCLC, allowing clinicians to make earlier, individualized treatment choices. The test showed high sensitivity and specificity for detecting each type of mutation, and results were available within 72 hours.
Scientists have identified two genetic mutations that significantly increase the risk of developing multiple sclerosis. The double gene mutation was found in a large Canadian family with five members diagnosed with MS, revealing new insights into the disease's origins and potential targets for treatment.
Researchers identified a key mutation in a tumor suppressor gene as the cause of a rare genetic disorder that leads to myelodysplastic syndrome. Children with this condition develop a shortage of normal blood cells due to disrupted bone marrow function.
Researchers at Uppsala University discovered two independent mutations required for the development of sex-linked barring in chickens, a pattern resembling the common cuckoo's plumage. The study sheds light on the genetic mechanisms behind colour variation and pigmentation in birds.
A team of researchers identified a genetic mutation responsible for an adult's rare and severe immune system disorder. They developed a molecular therapy using Morpholino Antisense Oligonucleotide that corrected the mutation and allowed the patient's immune system to function properly.
Researchers used positron emission tomography (PET) to identify genetic cell mutations that cause lung cancer. Advanced image analysis technique, radiomics, non-invasively identified underlying cell mutations in NSCLC patients.
Researchers found shorter telomeres in mice with a human genetic mutation linked to heart disease leads to deadly buildup of calcium in heart valves and vessels. The study provides a potential solution to studying other human disorders of aging in mice.
Researchers at Karlsruhe Institute of Technology developed a method to predict protein structures using statistical analyses. This approach allows for the prediction of even complex protein structures without experimental determination, potentially leading to new treatments for diseases like Alzheimer's.
A recent study analyzing genome sequencing and epidemiologic data from 32 cancer types found that nearly two-thirds of mutations in these cancers are attributable to random errors. The researchers' approach offers a novel perspective on cancer development, highlighting the need for more research efforts focused on secondary prevention.
Researchers identified a genetic disorder, ARVC, caused by mutations in the CDH2 gene, leading to cardiac arrest and sudden death. The discovery provides a new understanding of the disease and paves the way for preventative interventions and genetic counseling.
Researchers have identified a new compound that binds to CD11b and enhances its ability to suppress TLR signaling, reducing inflammation in lupus patients. The study found that the compound can override genetic defects associated with ITGAM mutations, offering a personalized approach to treating lupus.
Researchers at Hiroshima University developed a smart genetic reference library to determine disease-causing mutations in populations. The technique and database estimated naturally occurring rare-variants in the STAT1 gene and determined associated diseases. This will assist doctors in diagnosing primary-immunodeficiency in patients, ...
Researchers found that genetic modifications are unlikely to conquer Earth due to natural resistance. Gene drives, like CRISPR/Cas9, can spread quickly but will eventually be outcompeted by natural selection.
Researchers found that children of parents with C9orf72 mutations are more likely to develop frontotemporal dementia and ALS at a younger age, without accelerated disease progression. The study suggests that the length of the C9orf72 repeat is determinative for the age of onset of the disease.
Researchers from GW University and St. George's University of London discovered a mutation in the INPP5K gene linked to short stature, muscle weakness, intellectual disability, and cataracts. This finding suggests a new type of congenital muscular dystrophy, with potential for targeted therapies.
Researchers at NHGRI found that iPSCs have the same mutation rate as subcloned cells, providing evidence of their stability and safety. This breakthrough enables further research and potential therapy development using patient-specific iPSCs.
The updated guidelines provide better direction for clinicians to make accurate diagnoses and recommend personalized treatment. The new criteria lower the threshold for possible cystic fibrosis, reconsidering patients with chloride levels between 30-40 millimoles per liter.
A new study by UC San Francisco researchers reveals that distinct sets of genetic defects in a single neuronal protein can cause either infantile epilepsy or autism spectrum disorders. The study identifies SCN2A as the human gene with the strongest evidence for a causal role in driving ASDs.
Scientists used a mouse model to study nicotine's impact on brain cells involved in schizophrenia. Administering nicotine restored normal activity in prefrontal cortex neurons, similar to observed deficits in patients with psychiatric disorders.
A new genetic immunodeficiency has been characterized, allowing for the identification of patients at risk of fatal illnesses. Researchers have developed a unique platform to detect subtle immune system defects, enabling clinicians to provide timely treatments and preventive measures.
A vast collection of genetically modified wheat seeds with over 10 million sequenced mutations has been developed to aid in the study and improvement of wheat plants. This new resource is freely available to researchers and breeders worldwide, enabling them to develop crops with enhanced nutritional value, yields, and climate resilience.
A team led by Massachusetts General Hospital has identified gene mutations associated with a rare congenital condition involving the absence of a nose, often accompanied by defects in eye and reproductive systems. The SMCHD1 gene was previously linked to muscular dystrophy, but not craniofacial abnormalities.
The UNC Catalyst initiative aims to create and share research tools to study rare diseases, addressing the lack of resources and expertise in this area. The partnership with Genetic Alliance and Structural Genomics Consortium will provide researchers with access to necessary tools and talent to accelerate solutions.
Researchers at Rockefeller University have identified a single mutation that enables bacteria to acquire genetic memories of viruses 100 times more frequently than naturally. This breakthrough could facilitate the creation of CRISPR-based recording systems for various applications, including data storage and cancer research.
This study investigates molecular changes in the OTOF gene in patients with auditory neuropathy and identifies the c.35delG mutation in the GJB2 gene. Cochlear implants show excellent outcomes, with improved speech development and language acquisition in patients with severe/profound hearing loss.
Researchers at RIKEN create genetic knock-out rescue mice to study circadian timekeeping and identify key sites in the CRY1 gene that affect the duration of the circadian period. They find that specific mutations near the p-loop region influence phosphorylation levels, leading to longer or shorter circadian periods.
Researchers have identified a new genetic disorder that causes dystonia, a disabling movement disorder. Patients with this condition can benefit from Deep Brain Stimulation, which has restored independent walking and improved hand and arm movement in most cases.
Researchers at Johns Hopkins University have developed a new bioinformatics tool to evaluate the accuracy of current methods for identifying cancer-promoting mutations. The study found that existing methods need improvement and shared their methodology publicly to aid others in developing more precise ways to target tumor growth.
Researchers found genetic mutations increased with donor age, particularly in late 80s and early 90s donors, which could impact iPSC therapies. Screening is crucial to filter out defects and ensure safe treatment.
A Penn Medicine study found that elevated levels of mutations in essential genes are significantly associated with an increased risk for ASD and decreased social skills. Researchers identified high-priority essential genes that could serve as targets for future studies and treatments.
Researchers discovered two genetic mutations in the CCND1 and CCND2 genes in a subset of acute myeloid leukemia patients. These mutations were found in 15% of patients with t(8;21) AML, making them a potential target for new therapies.
Researchers discovered that gene mutations in titin protein can impact heart function even in healthy individuals, potentially affecting up to 35 million people globally. The study sheds light on the paradox of how some people with genetic mutations appear unaffected.
Researchers at the University of Colorado Anschutz Medical Campus found a strong association between a genetic mutation and left ventricular noncompaction, a rare form of heart muscle disease. The study sequenced nearly 5,000 genes in 335 patients with a family history of the disease to identify common genetic variants.
Researchers analyzed ExAC data to explore normal variation in NMDA receptors and its link to disease-causing mutations. For some patients, this information could guide anticonvulsant treatment with repurposed Alzheimer's medication.