Articles tagged with Human Genetics
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 present a molecular portrait of aging in the human kidney using DNA microarray technology, identifying 985 age-related genes. The study suggests a common aging mechanism operates across different kidney structures and tissues.
Researchers have discovered the structure of human POT1, a protein that caps the ends of chromosomes and regulates telomere length. The protein binds to a ten-nucleotide sequence, protecting the telomere from erosion, and its structure suggests that telomerase activity is regulated by this complex.
The melanocortin-4 receptor's (MC4R) basal activity is essential for maintaining energy balance. The N-terminal domain of the MC4R protein is responsible for this activity. Deletion of this domain impairs the receptor's ability to regulate energy homeostasis.
Head lice analysis suggests that modern humans (Homo sapiens) and archaic humans (Homo erectus) carried distinct types of lice. The study proposes a scenario where the New World louse evolved on an archaic form of humans before transferring to a modern version.
A University of Utah study shows that a now-extinct species of early human came into direct contact with our species about 25,000 years ago and spread parasites to our ancestors. The analysis of lice genes confirmed key developments in human evolution, including the 'out of Africa' theory.
A recent study by Memorial Sloan-Kettering Cancer Center researchers used multiple methods to detect SV40 DNA, RNA, and protein in human pleural mesothelioma samples, finding no evidence of a significant role for SV40. The team also discovered that common laboratory plasmid vectors may be causing false-positive results in assays.
The poplar's genome has been cracked, revealing potential genes specific to trees that could aid in combating global warming. By comparing the genomes of Populus and Arabidopsis, researchers hope to identify tree-specific genes that can be used to modify trees for better energy production and wood quality.
The completed sequence of human chromosome 5 reveals 66 known disease genes and 14 additional genes linked to diseases. The vast terrain also holds important regulatory elements and conserved noncoding regions with powerful influence on gene activity.
A recent genetic analysis found a viral strain linked to the decline of amphibian populations in the US, which may have been introduced through live bait and infected salamanders. The study suggests that emerging diseases are having a major effect on ecosystems globally.
Researchers found over 200 mitochondrial genetic fragments integrated into nuclear genome, potentially disrupting human health. These fragments, known as NUMTs, were more likely to insert themselves within active genes, causing disease.
Researchers found that mutations in clock genes caused male flies to copulate significantly longer than usual, revealing a novel role for these genes in regulating behavioral timing on the order of minutes. The study also suggests that clock genes may have important regulatory functions in other areas beyond cyclic patterns.
The project aims to examine both natural and human factors that spread transgenes into non-engineered crops and natural populations. Biological scientists will collaborate with social scientists to develop a global model of gene flow, accounting for human and natural processes.
Researchers mapped where three retroviruses integrate into human DNA, finding unique patterns for each. This discovery has implications for better-engineered gene therapies and new HIV drugs.
A new breed of vaccine-producing plants is being developed to combat global health issues, including cholera and diarrhea. The innovative technology uses minimal processing to yield heat-stable vaccines for oral delivery.
A new study reveals surprising differences in the DNA of normal cells from different people, detecting 76 large-scale 'copy number polymorphisms' associated with various health conditions. The researchers used a powerful new DNA profiling technique called ROMA, which identified genes involved in neurological development and cancer.
Researchers created a map of the influenza A (H3N2) virus's antigenic and genetic evolution from 1968 to 2003, revealing 11 closely related virus clusters. The approach will aid in monitoring antigenic differences among vaccine strains and predicting infection success of emerging viruses.
A study by St. Jude Children's Research Hospital found that Asian bird flu viruses, such as H5N1, became highly pathogenic through continued circulation and gene swapping in domestic ducks in southern China. The researchers warn that control of poultry outbreaks is crucial to prevent the virus from evolving into a human pandemic.
Researchers at the Medical College of Georgia have identified a gene called Indy that plays a critical role in delivering energy to cells, which may contribute to aging. By altering the activity level of this gene, they found that tiny worms lived longer and were thinner, raising hopes for potential human benefits.
Researchers genetically modified mice to lack the CT or PEMT pathways, resulting in significant reductions of lipoproteins and homocysteine levels. This suggests pharmacological inhibition of PC manufacture in the liver as a potential approach to lower LDL cholesterol and homocysteine levels.
Scientists have identified a genetic basis for alcohol response in roundworms, discovering that subtle variations in the NPR-1 gene affect tolerance. The study found that strains with higher levels of NPR-1 protein exhibit reduced ability to recover from alcohol exposure.
A large international consortium has successfully annotated over 21,037 human genes using publicly available resources. The study provides a reliable systematic network of human-curated relationships between genes and their biological functions, setting the standard for analysis of gene expression and human diseases worldwide.
Researchers at Whitehead Institute have developed a new experimental model of human breast cancer in mice, allowing for the study of early stage development and tumor growth. The model involves grafting human breast tissue into mouse mammary glands, enabling the production of human breast milk and pre-cancerous tumors.
Researchers developed a novel method to compare genetic changes in developing mice with those in medulloblastoma, revealing common features with early developmental stages. This study provides a foundation for further research into tumor diagnosis and prognosis.
A USC study found that human ancestors developed meat-tolerant genes to resist diseases associated with a meat-rich diet, leading to slower aging and longer lifespan. However, the researchers argue that modern-day humans' sedentary lifestyle and lack of moderation may be contributing factors to high cholesterol and vascular disease.
A team of scientists has analyzed the largest sample of Neandertal and early human remains, concluding that Neandertals could not have made a significant genetic contribution to early modern humans. The study's findings challenge the theory of interbreeding between Homo sapiens and Homo Neanderthalensis.
Scientists have deciphered the genome of Wolbachia pientis wMel, a model bacterium that infects fruit flies. The study reveals the bacterium has accumulated more repetitive DNA than any other intracellular bacteria, with potential applications in developing new treatments for diseases such as dengue fever and lymphatic filariasis.
Researchers identified a critical protein, NADPH oxidase 3 (Nox3), essential for otoconia development and balance. The discovery may aid in regenerating otoconia and treating balance-related disorders.
Chiu presented her research on correlating gene changes with limb structure, a topic of interest to paleoanthropologists. By studying the mouse, she found that significant developmental differences are due to changes in gene regulation.
Researchers analyzed 63 SARS viruses from three phases of the 2002-2003 epidemic and found significant genetic adaptations, including a rapid mutation rate and unique molecular fingerprints. The study suggests that containing outbreaks quickly is crucial before the virus becomes more difficult to control.
A team of researchers at the University of Rochester Medical Center discovered that a genetic defect affects lysosome protein arginine regulation, causing Batten disease. This condition leads to lysosomes malfunctioning and cells swelling with waste, ultimately killing brain cells and resulting in severe medical problems.
A team of researchers at Stanford University used a computer simulation to trace the origins of genetic mutations in human populations. By modeling population growth, migration, and mutation rates, they were able to estimate the location and time of origin for these genetic changes.
Researchers discovered that rats bred to prefer alcohol were healthier and lived longer than those bred to avoid it, regardless of drinking habits. The study found that genetic factors, rather than alcohol consumption itself, contributed to the longevity difference.
A study led by Bruce Lahn found that the Abnormal Spindle-Like Microcephaly Associated (ASPM) gene shows strong evidence of accelerated evolutionary changes in the primate lineage leading to humans. These changes are most prominent after humans parted ways from chimpanzees, suggesting a possible key role for ASPM in human brain evolution.
Researchers discover a variant of the NFKB1 gene associated with ulcerative colitis, a condition characterized by intestinal inflammation. Additionally, a second study links the MDR1 gene to Crohn's disease and possibly ulcerative colitis.
Researchers successfully transferred and expressed MGMT into relatively few hematopoietic stem cells using a lentivirus vector, enabling gene-corrected cells to repopulate the hematopoietic compartment. This breakthrough has significant implications for human clinical trials of gene therapy in bone marrow transplantation settings.
The study found 83 genes with higher levels of activity in humans, linked to increased brain activity, while human brains showed increased expression of genes protecting against damage. This discovery may explain why humans have a long lifespan but are vulnerable to neurodegenerative diseases.
Researchers have identified a new gene in zebrafish that controls the formation of calcium carbonate crystals in otoliths, which are crucial for balance and sound perception. By manipulating this gene, scientists can create star-shaped crystals that alter the fish's balance and orientation.
Researchers at UCSD investigate human dietary absorption of a cell-surface molecular sugar called N-glycolylneuraminic acid (Neu5Gc), found in red meat. The study reveals that people absorb and metabolize small amounts of Neu5Gc, triggering an immune response.
Researchers at Dartmouth College and GlycoFi have developed a technology to produce human-like glycoprotein structures in yeast, offering improved quality and quantity of pharmaceutical proteins. This breakthrough has the potential to increase patient access to life-saving drug therapies by overcoming production capacity bottlenecks.
A study by NIH/NIEHS has identified a mouse gene linked to hydrocephalus, a common birth defect. The research team cloned the defective gene, which affects cerebrospinal fluid drainage, and found it causes classic symptoms of hydrocephalus in mice.
Researchers from deCODE Genetics and the University of Oxford found that genetic drift, not admixture, has shaped Iceland's gene pool. The study suggests that small effective population size and relative isolation have contributed to Iceland's unique genetic characteristics.
Researchers found that loss of <i>H2AX</i> gene leads to increased genomic instability and cancer in mice. The study suggests that <i>H2AX</i> deficiency may be a major player in cancer-causing genomic instability, particularly in the context of human tumors with alterations in chromosome 11.
Researchers discover cadmium inhibits DNA repair mechanisms, leading to dramatic mutations and increased cancer risk in humans. Environmental exposure to cadmium may cause genetic damage through this novel pathway.
The University of Minnesota is leading a new initiative to create standardized safety protocols for genetically modified organisms (GMOs) in the agricultural biotechnology industry. This effort aims to address concerns about GMO safety and reduce regulatory stalemates.
A new study reveals that modern humans originated from a small ancestral population in sub-Saharan Africa, with genetic splits occurring between hunter-gatherer populations and African farming people around 70,000-140,000 years ago. This finding supports the 'out-of-Africa' theory and provides insights into human migration patterns.
The tob gene is a newly characterized tumor suppressor that prevents cell proliferation by constraining the cell growth cycle. Tob-deficient mice develop various spontaneous tumors, including liver cancer, at a significantly higher rate than normal mice.
Researchers have identified Myc binding sites using different experimental approaches in Drosophila and human cells. The findings suggest that Myc regulates a large portion of both the fly and human genome, altering previous views on its activity and interactions.
TSRI scientists have identified rare genetic mutations in the TLR4 gene that increase susceptibility to meningococcal sepsis, a devastating disease with a 12% case fatality rate. The study suggests that individuals with these mutations may be protected from severe sepsis through prophylactic treatment.
A novel computational method, MiRscan, has been developed to estimate the total number of miRNA genes in different animals. The researchers used this tool to identify 88 miRNA genes in C. elegans and estimated that miRNA genes comprise nearly one percent of the human genome.
Researchers at Dartmouth College have made a breakthrough in producing human therapeutics using a yeast-based protein expression system. By genetically engineering the yeast P. pastoris, they can now produce fully-humanized proteins with complex glycosylation structures.
Functional nanoparticles are being developed for molecular imaging, cancer treatment, and tissue engineering. Scientists can engineer nanoparticles to have multiple functions, including tagging proteins or genetic sequences in a process called multiplexing.
A comprehensive analysis of Bacteroides thetaiotaomicron reveals its ability to process nutrients and forge a beneficial alliance with its host, providing new insights into human physiology and potential therapeutic strategies.
A study found that 54% of human olfactory receptor genes are impaired, compared to 28-36% in other primates. The decline of the sense of smell likely occurred within an 'evolutionary moment' 3-5 million years ago.
A gene mutation that improves heart failure in mice is fatal in humans, highlighting the need for human-specific studies. Researchers found that inhibiting PLN gene in mice restored impaired calcium signaling and muscle contraction, but led to lethal heart failure in humans.
Researchers are using Arabidopsis plant mutants to study salt stress in plants and potential connections to HIV research. Mutants with altered genes have been identified, offering insights into the mechanisms behind these complex conditions.
A new USC study suggests that humans lost the ability to detect pheromones due to a gene essential for vomeronasal organ function. The study found that mutations in this gene occurred around 40 million years ago, leading to the disappearance of the gene and subsequent loss of vomeronasal organ function in primates.
Researchers found significant genomic rearrangements in human and non-human primate DNA, suggesting a new source of variation between species. These findings may provide insights into human health and disease, and could inform targeted investigations of gene expression differences.
Researchers at the University of Minnesota developed a reliable diagnostic test for myotonic muscular dystrophy type 2 (DM2), revealing it occurs in many families of Northern European ancestry. The new test uses DNA amplification and verification to detect the disease, addressing difficulties in correct diagnosis.
Researchers at Cornell University found that the human eye can compensate for certain types of optical faults, such as corneal astigmatism and high-order aberrations. The study used wavefront analysis to measure deviations in the eye's optics and found evidence of internal compensation mechanisms.
A professor at Stanford University suggests a genetic mutation triggered modern human behavior, contradicting the majority of anthropologists. Genetic analysis of the foxp2 gene supports his theory, suggesting it evolved around 50,000 years ago.