Articles tagged with Polymorphism
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 UC Davis reveal a 40-million-year-old genetic mechanism controlling alternating sexes in walnuts, similar to human sex chromosomes. Two variants of a gene linked to flowering type balance each other, maintaining genetic variation and equilibrium.
Researchers have generated a global polymorphism genetic map of VNTRs using high-depth whole-genome sequencing data from 8,222 genomes across 140 countries. The study identified over 2.5 million VNTR length polymorphisms and 11 million VNTR motif polymorphisms, offering new insights into the role of these elements in gene regulation.
A meta-analysis found that individuals carrying the AA genotype at TLR10 rs10004195 locus have a significantly elevated risk of H. pylori infection. This association may be used to assess future risk and provide personalized health guidance.
A recent study from Japan investigates the impact of PAI-1 4G/5G polymorphism on thrombotic and inflammatory responses in Japanese patients with COVID-19. The study reveals that the 4G allele is linked to fibrinolysis inhibition and thrombosis risk, while the 5G allele promotes enhanced fibrinolysis and active cytokine responses.
A six-center case-control study investigated the association between miR-146a rs2910164 C>G polymorphism and Wilms tumor susceptibility in Chinese children. No significant relationship was found, suggesting no association with increased risk.
Female cuckoos have two color variants: gray and rufous, linked to ancient mutations that emerged during the evolutionary arms race between host and cuckoo. The rarer color morph has an evolutionary advantage due to its rarity, causing genetic variation to be maintained for a long time.
A recent study sheds light on the genetic underpinnings behind color polymorphism in adult females of cuckoo birds, revealing a single mutation for female-only polychromatism over 1 million years ago. The study found that variations in gray or rufous coloration are associated with the full length of the female-limited W chromosome.
Research by University of Exeter scientists found that females with warmer temperatures have fewer spots, challenging long-held views on the reason for this variation. The study suggests that butterflies adapt their camouflage based on temperature, which could lead to a decrease in spotting over time.
Researchers from Chiba University have developed a novel supramolecular coformer approach, enabling the formation of supramolecular polymers at large scales with improved solubility and recyclability. The approach facilitates the production of sustainable plastic materials with high recyclability.
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.
Scientists have developed a way to program virus particles' size and shape using DNA origami nanostructures, potentially advancing vaccine development and drug delivery. The approach uses electrostatic interactions between DNA nanostructures and capsid proteins to create user-defined assemblies.
Researchers found specific HLA molecules linked to MPO-AAV susceptibility and increased risk of relapse, potentially leading to precision medicine solutions for treatment. Biomarkers may be developed to predict relapse risk, improving patient outcomes.
Researchers at Kyoto University have discovered a genetic mutation that causes lethal arrhythmia in humans. The study found that a novel variant of the CALM2 gene produces robust arrhythmogenicity in human-induced pluripotent stem cell-derived cardiomyocytes.
Researchers discovered that non-vascular bryophytes like Marchantia polymorpha adapt their architecture in response to shade, using phytochromes to regulate branching. The study found a liverwort-specific microRNA and SPL gene controlling meristem function, differing from vascular plants.
Researchers examined associations between APOE ε2 and ε4 alleles, polygenic profiles, and Alzheimer's disease biomarkers. They found links between ε4 alleles with plasma and CSF Aβ42 and CSF tau, as well as differences in associations with tau and Aβ42.
Researchers found that Marchantia liverworts completely inactivate paternal genes in embryos, ensuring proper development. The mechanism involves Polycomb Repressive Complex 2 and maintains haploid dosage despite the short diploid phase.
Researchers found that genetic variations in the serotonin 5-HT2A receptor impact its interaction with psychedelic drugs. Seven variants uniquely altered the receptor's response to psilocin, LSD, 5-MeO-DMT, and mescaline.
Researchers discover that type 1 TPCs encode SV channels in plant vacuoles, while type 2 TPCs likely encode distinct ion channels. This study provides functional and evolutionary insights into the TPC family in plants, shedding light on their role in plant growth and defence mechanisms.
The CSD-Materials suite provides a comprehensive analysis of solid form properties, helping researchers explore intra- and intermolecular interactions. The suite's components, including Hydrogen Bond Propensity, Full Interaction Maps, and Aromatics Analyser, aid in identifying potential co-former or solvent interactions for new APIs.
Researchers have identified a previously unknown gene, goldentouch, responsible for the golden coloration in Midas cichlids. The gene, found on chromosome 11, is present in two variants: one associated with dark coloration and the other with orange/yellow coloration.
New research reveals how genetic variations impact COVID-19 case severity, focusing on non-classical monocytes and their role in the immune response. The study identifies potential targets for therapies to boost immune cell function and improve disease outcomes.
A study analyzed genetic material from 86 discordant couples infected by SARS-CoV-2 and found associations between certain genetic variants and efficient activation of natural killer cells. These cells play a crucial role in the innate immune response, destroying infected cells to prevent disease development.
Researchers found 556 novel markers of colorectal tumors with microsatellite instability, which are differentially expressed genes. These markers were identified by incorporating cell composition into their regression model, indicating a potential role in disease prognosis.
A recent study has found a possible link between prostate cancer and schizophrenia, with certain gene polymorphisms correlated to disease prognosis. Polymorphisms in genes controlling neurotransmitter metabolism were studied in patients with prostate cancer, revealing a potential protective effect against schizophrenia-like symptoms.
Biologists from RUDN University identified polymorphisms in six genes that determine flaxseed oil's fatty acid composition and shelf life. The study found specific gene variations that extend the shelf life of flaxseed oil, improving genetic selection for new flax breeds.
Researchers found genetic variation in DDX1 associated with increased expression and poor survival in neuroblastoma. The MAX protein binds to the DDX1 promoter, influencing MYCN-related variants' impact on neuroblastoma risk.
A recent Cleveland Clinic study has identified genetic factors that may influence an individual's susceptibility to COVID-19. The research found associations between polymorphisms in the ACE2 and TMPRSS2 genes and increased risk of cardiovascular and pulmonary conditions, as well as poor outcomes with COVID-19.
A Japanese task force aims to identify genetic factors contributing to COVID-19 severity and develop an effective mucosal vaccine. By analyzing patient samples, the team hopes to uncover unique genetic susceptibilities associated with Japanese populations.
A study found that certain genetic variants in children may make them more vulnerable to the toxic effects of prenatal methylmercury exposure. The research, led by the Barcelona Institute for Global Health, suggests around 30% of children carry a gene variant increasing their risk.
Research by scientists from Cornell University and the University of Sheffield finds that balancing selection is responsible for maintaining the diversity of head colors in Gouldian Finches. This process allows both red- and black-headed finches to coexist, with each having advantages and disadvantages, resulting in a stable polymorphism.
A genetic polymorphism in the D2 enzyme affects thyroid hormone conversion, leading to hypothyroidism-like symptoms in mice and potentially affecting human patients. The study aims to develop a new treatment agent to address this issue.
Researchers at Binghamton University found that a genetic polymorphism in the CD40 gene modifies the severity of Duchenne muscular dystrophy, pointing to potential therapeutic approaches. The study suggests that drugs targeting CD40 may improve patient symptoms.
Researchers at Hokkaido University found that ants have a preference for aphid colonies with certain colors, which allows these bugs to retain their colors through generations. The team discovered that the number of attending ants was highest when green aphids comprised 65% of the colony.
Researchers create innovative framework to examine social behavior in various species, shedding light on the role of genetic polymorphism in shaping individual traits. The study reveals that inherited genetic tendencies can accurately predict social relationships and behaviors.
Researchers used speed-dating to test whether genetics play a role in mate selection, finding that genotypes consistent with gender norms influenced success. Men and women with specific genetic variants were seen as more desirable or less likely to receive second dates.
A study published in the Journal of Clinical Investigation found that a genetic polymorphism may be responsible for why standard treatments for hypothyroidism fail some patients. The researchers suggest that personalized medicine could lead to effective treatment for all patients, and identify potential targets for new therapies.
A recent study found that APOE ε4 and APOC1 H2 gene polymorphisms are associated with increased risk of cognitive decline in Chinese patients with late-onset Alzheimer's disease. The findings suggest a potential genetic link between these genes and cognitive impairment progression in this population.
SRAP markers exhibit high variability and are less technically demanding than traditional methods, making them suitable for various research fields including plant systematics, biogeography, conservation, and ecology. The new study suggests that these markers will be useful when paired with next-generation sequencing technologies.
Scientists have identified a 'weakness' in the clover genome that biases species to evolve the same trait. In six related clover species, genetic deletions led to the development of a cyanide-less trait, suggesting constrained evolution.
Researchers developed a magnetic nanoparticles-based method to extract DNA from saliva and blood samples of stroke patients. This non-invasive method was used to screen for the C677T polymorphism in the MTHFR gene, which is a risk factor for stroke.
Researchers found that a specific gene polymorphism is associated with an increased risk of ischemic stroke in the Han Chinese population. The study identified the -607C allele as a strong risk factor for ischemic cerebrovascular disease, while the A allele may provide protective effects.
A genetic study published in Neural Regeneration Research identified the G4A polymorphism of the scavenger receptor class B type I gene as a possible predisposing risk factor for atherosclerotic cerebral infarction. The study found that individuals with the G4A GA + AA genotype had higher serum levels of high-density lipoprotein choles...
A meta-analysis of 67 studies confirmed IL28B polymorphisms impact natural HCV clearance and PEG-IFN/RBV treatment response. Favourable genotypes equated to more than double the probability of achieving sustained virologic response, supporting personalized medicine approaches.
Researchers discovered polymorphisms in HIV-1 that improve resistance to drugs, even without the medication. This finding has significant implications for treating HIV-1 infection, as it suggests newly infected individuals can be drug-resistant before treatment.
Researchers discovered a HIV mutation that makes certain strains more susceptible to treatment. This knowledge will help doctors improve drug regimens for HIV-infected individuals by targeting the 172K polymorphism.
A study published in Cancer Epidemiology, Biomarkers & Prevention establishes the association of IL-16 with prostate cancer in men of both African and European descent. Researchers found new polymorphisms in the gene unique to African Americans that confer risk, providing a potential biomarker for prostate cancer.
A large study found a direct association between the presence of a small genetic alteration in a hormone receptor and increased body fat and insulin resistance. The BclI polymorphism, which makes the glucocorticoid receptor more sensitive to glucocorticoids, was linked to greater effects with similar hormone levels.
Researchers found that birds with multiple plumage colour forms evolve into new species faster than those with only one colour form. The study, published in Nature, used decades of data and genetic information to confirm a 60-year-old evolution theory.
Research on three-spined sticklebacks reveals that reoccurring infectious diseases influence the frequency of immune genes. This variability helps individuals resist diseases but poses a challenge for organ transplants. In contrast, the variation in human HLA alleles enhances mating choices by providing optimal gene combinations.
Pitt Dental School researchers discovered a link between genetic variations and increased rates of tooth decay and aggressive periodontitis. The study found that individuals with specific polymorphisms in the DEFB1 gene had higher DMFT and DMFS scores, indicating a higher risk of developing these conditions.
The Huichol population of Mexico has the highest documented CYP2E1*c2 allele frequency, placing them at high genetic risk for alcoholism and alcoholic liver disease. The absence of protective ADH1B and ALDH2 polymorphisms in this group exacerbates their vulnerability.
Research found that IL-1 gene polymorphisms are associated with alcohol dependence in Spanish Caucasian males, particularly those with a certain haplotype. The study suggests a protective effect of this haplotype on better outcomes, highlighting the complex role of genetic factors in AD.
Researchers found that genetic variations in serotonin transporter gene and COMT enzyme affect how individuals learn and overcome fear. Participants with shorter version of serotonin transporter gene had strong physiological fear response, while those with longer version did not.
A new study found a link between the Val66Met polymorphism in the brain-derived neurotrophic factor (BDNF) gene and risk for post-treatment relapse among alcohol-dependent patients. The findings suggest that genetic markers may be used to predict treatment outcomes and inform personalized therapy approaches.
A comprehensive review of case-control studies links gene polymorphisms in alcohol dehydrogenase and aldehyde dehydrogenase enzymes to an increased risk of upper aerodigestive tract cancers. Polymorphisms ADH1B and ALDH2 are associated with a higher risk, but data on other variants is insufficient for meta-analysis.
A genetic variant of interleukin-18 has been found to be associated with a prolonged ICU stay after cardiopulmonary bypass surgery, leading to increased inflammation and adverse outcomes. The TT genotype was carried by 58% of the subjects, indicating a potential risk factor for patients undergoing CPB.
A recent study identified four new DNA 'hotspots' linked to psoriasis, an autoimmune disease that causes scaling and inflammation. The study also confirmed the association of two previously identified sites with psoriasis, revealing potential genetic markers for the disease.
Individuals with the ADH1C*1 gene variant produce more acetaldehyde, leading to greater cellular DNA damage and a heightened risk of colorectal cancer. Chronic drinking is also a known risk factor for colorectal cancer.
A genetic variant found almost exclusively in individuals of Asian descent significantly increases the risk of elevated triglycerides. The study found that 15.1% of Chinese-Americans with high plasma TG carried at least one copy of the variant, corresponding to a 4.4 times greater risk.
A study found that heavy alcohol drinking combined with specific genetic polymorphisms in cytochromes P4502E1 and aldehyde dehydrogenase-2 increases the risk of esophageal squamous cell carcinoma. Individuals with the combined ALDH2 (1/2) and CYP2E1 (c1/c1) genotype showed a dramatically increased risk of ESCC.