Articles tagged with Phenotypes
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.
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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 analyzed literature from 1999 to 2018 and found no stronger phenotypic selection in populations exposed to anthropogenic selection pressures. Some human disturbances may reduce selection by increasing fitness and decreasing opportunities for selection.
A team of researchers has characterized the fates of individual phagocytes in the central nervous system, revealing that they can switch between pro-inflammatory and anti-inflammatory phenotypes. This discovery sheds light on the complex role of mononuclear phagocytes in neuroinflammatory diseases, such as multiple sclerosis.
Researchers at ISGlobal and Oxford University found that heart failure is a pathogenic mechanism in severe malaria, leading to higher mortality rates. The study identified four clusters of patients with respiratory distress and severe anaemia, where liver size increase was associated with higher mortality.
Researchers at Boston University School of Medicine aim to develop strategies to decrease persistent HIV RNA expression and inflammation, driving disease pathogenesis in older individuals living with HIV. Chronic inflammation is a major concern in HIV-infected patients, particularly as they age.
Researchers have identified seven biomarkers that can predict which glioma patients will progress to a more aggressive form of the disease. A biomarker panel could help physicians decide whether more aggressive treatment is necessary to prevent progression.
Researchers at UCSF and Stanford University sequence the genome of a mysterious skeleton, nicknamed 'Ata', revealing rare genetic mutations associated with dwarfism and bone growth disorders. The analysis highlights the power of open-source genetic data in enabling precise diagnoses.
A new method developed by researchers at Vanderbilt University Medical Center identifies rare genetic diseases in patients with heart failure, stroke, infertility, and kidney failure. The study found that phenotype risk scores can help predict the presence of disease-causing genetic variants.
Researchers mapped gene expression levels to understand how mutations affect traits, finding non-linear relationships that aren't proportional to the level of mutation. This discovery helps improve prediction accuracy for diseases like cleft lip and palate.
Researchers found that mutations in two components interact with each other, increasing the system's freedom to change and evolve. The study provides a mechanistic understanding of how genetic structure determines patterns of epistasis.
Researchers have developed a novel omics tool to explore the interaction between genetics, environment, and disease. By integrating large datasets from the BXD mouse population, scientists can identify gene-phenotype associations and make personalized treatment predictions.
A new NSF-funded project at UNC-Chapel Hill aims to make expertise in comparing anatomical or physiological knowledge about different organisms accessible to computers. The project will develop tools for semantic ancestral character reconstruction and enrichment, enabling researchers to study how phenotypes evolve along the tree of life.
A Korean research team created a comprehensive computational model of human metabolism, enabling accurate prediction of personal metabolic features. The model incorporates alternative splicing information and was validated with over 11,000 Gene-Transcript-Protein-Reaction Associations.
Researchers at Ohio State University Wexner Medical Center created a phenogenetic map for induced pluripotent stem cell models of neurological diseases, linking cell characteristics to genotype. The iPhemap online database shares knowledge and develops new therapies.
Australian scientists argue that the current PCOS definition brings no clear benefit to women, despite higher levels of depression, anxiety, and negative body image. The authors recommend reevaluating diagnosis and treatment based on individual characteristics and symptom severity.
Brown recluse spider bites can cause severe illness in children, including blood clotting disorder and hemolysis. Children and African-Americans may be at higher risk for developing systemic loxoscelism, a potentially life-threatening condition that requires hospitalization and supportive treatment.
The study found a consistent association between overweight and obesity with sickness absence, regardless of metabolic health status. Obese workers were 37% more likely to take sick leave for non-work-related illnesses than their healthy-weight colleagues.
Researchers from New York University Rory Meyers College of Nursing studied genetic and susceptibility risk factors for lymphedema in breast cancer survivors. They found significant associations between genotypes related to several lymphatic and inflammatory genes and symptom phenotypes of impaired limb mobility, fluid accumulation, an...
Concordia researchers create a Yule tree graph to chart evolution and predict extinction rates based on phenotypes. The model suggests that the length of time a species lives until extinction depends on its phenotype.
Researchers at Georgia Institute of Technology have developed an algorithm that reveals micron-sized bumps and grooves in lab worms, exposing potential subtle genetic connections to diseases. The technique uses digital optics and computational genetics to analyze intricate web of gene mutations.
Baylor College of Medicine has been awarded a $27.9 million grant from the National Institutes of Health to continue its knockout mouse project. The project aims to generate and phenotype lines for 1,000 new genes using Cas9/CRISPR technology.
Research at Tohoku University reveals genetic variants affecting enzymatic activities in healthy individuals, suggesting that moderate and rare variants contribute to metabolic differences and disease susceptibility. The study identifies five associations between metabolites and gene variants, including four related to metabolic diseases.
A new study led by William Kerr of SUNY Upstate Medical University found that SHIP1 inhibition improved metabolic phenotypes in mice fed a high-fat diet. The results showed that SHIP1 inhibition prevented excess weight gain, improved blood sugar control, and reduced inflammation in adipose tissue.
Fatty liver and visceral obesity are key predictors of prediabetes and cardiovascular risk. Insulin secretion failure and resistance also play a significant role in modulating disease risk.
Researchers at the Max Planck Institute of Immunobiology and Epigenetics found a novel epigenetic switch regulating genes in mice, leading to two distinct phenotypes. This discovery fundamentally alters our understanding of how epigenetics influences gene outcomes and has implications for obesity and other diseases.
Inserm researchers identified early cellular changes in the brain that trigger depressive symptoms. They discovered a novel promising drug target, inhibiting protein phosphatase 2A, which rapidly ameliorates depression-like phenotypes in mice.
A study found that most patients with genetic variations linked to cardiac disorders did not show symptoms or signs of the conditions. The researchers suggest that some variants may have low penetrance or cause subclinical disease, raising questions about the validity of returning incidental genetic findings to patients.
Researchers at the Buck Institute discover that dysfunctional mitochondria induce a unique type of senescence, characterized by a distinct secretory phenotype. This finding provides an alternative explanation for the free-radical theory of aging and highlights a new role for mitochondria in affecting physiology.
A consensus approach to assessing neuropathic pain phenotypes has been developed by an international panel of experts, aiming to improve consistency and transparency in studies. The new criteria identify possible cases of neuropathic pain, emphasizing the need for additional assessments to confirm diagnosis.
Researchers have discovered a novel epigenetic mechanism that causes the mantled phenotype in oil palms, resulting in reduced oil yields and sterility. A leaf-based test can predict the mantling phenotype at an early stage, enabling the exclusive cultivation of high-performing clonal palms.
A study published in Current Biology found that athletes' performance peaks at different times of day based on their natural sleep patterns. The researchers used a novel test to characterize over 120 athletes' circadian phenotypes and discovered a significant variation in individual performance throughout the day.
Rong Xu's research aims to automate identification of drug effects using artificial intelligence, data mining, and machine learning on thousands of existing drugs and over 100,000 diseases. Her approach could lead to a more efficient drug discovery process with a lower failure rate.
Researchers found that the pygmy phenotype in Africa and Southeast Asia is a result of multi-gene adaptation, making individuals better suited for their challenging environments. The study suggests that this adaptation may have occurred independently in different regions.
A study found that individuals low in satiety responsiveness are more likely to experience poor appetite control and overeat, particularly those with a preference for high-fat foods. Increasing almond consumption may help improve satiety responsiveness and increase control over food intake.
Researchers at Mount Sinai Hospital have re-examined multiple sclerosis (MS) clinical course descriptions to provide a framework for both clinical research and ongoing clinical care. The proposed 2013 revisions include improved clinical descriptive terminology, MRI imaging, and analysis of fluid biomarkers.
A newly discovered gene called Samd4 plays a critical role in regulating metabolism, with abnormal distribution of fat and diminished insulin responses observed in the lean 'Supermodel' mouse. The study provides new potential avenues for research into diseases such as diabetes and obesity.
A new biological pathway-based computational model, called PHPN, mines large publicly available disease datasets to find shared genetic connections between diseases. The model offers a visual representation of the relationships between diseases and phenotype's at the systems level.
Severe asthma is defined as requiring high-dose inhaled corticosteroids plus a second controller medication. The new guideline aims to improve diagnosis and treatment options for this condition, which accounts for less than 10% of all asthmatics but has the greatest healthcare burden.
Researchers used genotype data from 13,835 individuals to perform the first large-scale phenome-wide association study (PheWAS), discovering 63 previously unknown SNP-disease associations. The study validated known associations across hundreds of previous studies and found genes associated with multiple diseases or traits.
A study published in the Journal of Clinical Investigation reveals that type 2B von Willebrand disease is associated with platelet dysfunction. Researchers found that a mutation in the von Willebrand factor protein can inhibit platelet activation and promote thrombocytopathy.
Researchers found that autoimmune type 1 diabetes is distinct from type 2, but phenotypic features can't be clearly assigned to specific disease types. The DiMelli study suggests a continuum of forms and mixed diabetes phenotypes, requiring refined criteria for diagnosis and treatment.
The study shows that temporal niches promote frequency-dependent selection, allowing diversity among bacterial phenotypes to persist. Alternating environmental conditions help maintain closely-related phenotypes, resulting in higher biodiversity levels.
The three-spined stickleback exhibits preference for joining shoals of relatives over unfamiliar individuals. Despite exposure to familiar and unfamiliar kin, the fish showed no preference for selecting group members based on familiarity.
The Beutler laboratory has released its ENU mutagenesis data, which underpin the Nobel Prize-winning discoveries, for public use. The dataset is available in an online open access repository called Mutagenix, linked permanently to a 'Data Note' article published in BMC Research Notes.
A study from researchers in Sweden found that frequent asthma exacerbations are associated with higher doses of glucocorticosteroids, worse asthma control, and increased inflammatory markers. The study identified several risk factors for frequent exacerbations, including smoking history, lower quality of life, and body mass index >25.
Two studies found that CYP2D6 genotypes associated with reduced enzyme activity do not predict clinical responsiveness to adjuvant tamoxifen therapy among postmenopausal women. This challenges the conventional hypothesis that poor metabolizers experience fewer side effects and may receive less benefit from tamoxifen.
A team of researchers used ancient DNA to analyze the color variations seen in Paleolithic cave paintings, finding that all phenotypes existed in pre-domestic horse populations. This study lends weight to the argument that artists were reflecting their natural environment.
Researchers discovered that heat shock protein 90 affects a large portion of the yeast genome, revealing multiple traits simultaneously and instantly. This allows for rapid evolution of interdependent traits, leading to a better adaptation to stressful environments.
A recent study found that religiosity during adolescence can moderate genetic effects on problem alcohol use, but not in young adulthood. The research suggests that adolescents raised with strong religious values are less likely to develop problems with alcohol use, even in the presence of a genetic predisposition.
A genome mapping technique has been demonstrated to speed up the process of finding specific genes by quickly identifying genetic associations. This method compares DNA sequences across multiple individuals and identifies similarities that narrow the scope of the search for a particular gene.
Researchers have found that mutational robustness can either impede or facilitate adaptation depending on population size, mutation rate, and reproductive capabilities. Neutral mutations can set the stage for future beneficial adaptation, allowing populations with intermediate levels of robustness to adapt fastest to novel environments.
The Stowers Institute's new whole-genome sequencing approach enables rapid identification of mutations in fruit flies, a crucial step towards discovering genes linked to human diseases. This innovation promises to accelerate the discovery process, making it faster and more cost-effective than traditional methods.
Researchers recreated natural selection in real-time, demonstrating the first quantitative evidence for natural selection on standing genetic variation. The study found that only half of gene frequencies reverted to ancestral levels, highlighting the contingent nature of evolution.
Researchers discovered that misfolded proteins trigger a mechanism in yeast cells, allowing them to adapt to stress and evolve more quickly. Under stressful conditions, the cells create prions, which can induce beneficial changes, such as enhanced growth on energy sources or resistance to antibiotics.
A recent study published in Biology of Reproduction found that SOHLH2 plays a critical role in the formation and survival of oocytes and primordial follicles in mouse ovaries. The study, led by Youngsok Choi et al., discovered that SOHLH2 is essential for both oogenic and folliculogenic processes.
Researchers propose a simple model of development that explains patterns in morphology and body plans, attributing sparseness of variety to interactions between multiple genes. The hybrid developmental-phylogenetic model reproduces fossil record patterns, including increasing variation among taxonomic groups and decreasing within.
Researchers James Eberwine and Aaron Gitler at the University of Pennsylvania School of Medicine have been awarded prestigious NIH awards to investigate RNA-based therapeutics and mechanisms of neurodegenerative diseases. Their research aims to develop novel individualized therapeutics and understand protein folding and misfolding in y...
Researchers at UC San Diego discovered that certain genes can switch between two phenotypes spontaneously, allowing cells to adapt to changing conditions. This phenomenon, known as epigenetic multistability, can be beneficial for gene expression and is crucial for understanding genetic inheritance.
Researchers have discovered a stable sex hormone signature in cells that may provide a more sophisticated way to determine sex than just identifying the presence of the Y chromosome. This breakthrough could lead to improved counseling for intersex individuals with ambiguous gender identities.
A team of researchers from Arizona State University has discovered evidence that honeybees use a phylogenetically old molecular cascade to develop queens and workers. The findings, published in PLoS ONE, show that the TOR pathway is directly linked to nutrient-induced development, enabling two distinct phenotypes to evolve.
A subset of patients with idiopathic pulmonary fibrosis (IPF) has been found to have a short duration of symptoms before diagnosis and an accelerated clinical course to end-stage disease. This 'rapid progressor' group is characterized by distinct gene expression patterns, which may lead to the development of new therapeutic interventions.