Articles tagged with Gene Identification
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 identified parkin as a regulator of fat uptake by liver cells, impacting blood fat levels and potentially linking to Parkinson's disease. The study found that increased parkin protein levels are associated with high-fat diets and mutant human cells.
A study published in PLOS Genetics found that thousands of genes affect plant adaptation to environmental challenges. The researchers used a genomewide association mapping approach to identify key genes involved in defense metabolism, revealing significant influences from both internal growth and external environments.
A team led by Indiana University biologists has confirmed that modern sunflowers originated from the eastern United States, based on a comprehensive examination of genetic diversity. The researchers found no evidence to support the idea that sunflowers were domesticated independently in Mexico.
An international team of scientists identified 29 new genetic variants linked to multiple sclerosis, providing key insights into the biology of the disease. The study confirms 23 previously known genetic associations and doubles the number of genes associated with MS.
A Scripps Research scientist has identified the critical role of a night blindness gene in facilitating rapid signal transmission in the eye's initial response to light. This discovery sheds light on the molecular mechanisms underlying low-light vision, highlighting the importance of nyctalopin in coordinating the assembly and precise ...
A University of Nottingham researcher has been awarded a £600,000 Career Establishment Award to study the genetics of cancer. Dr Marios Georgiou aims to identify genes involved in tumour progression.
Mutations in MSR1, ASCC1, and CTHRC1 genes are linked to increased risk of esophageal adenocarcinoma and Barrett esophagus, a premalignant condition caused by chronic GERD. The study found that these three genes accounted for 11 percent of cases, highlighting the potential importance of genetic testing in risk assessment.
Researchers identified the NBEAL2 gene responsible for Gray Platelet Syndrome, a rare blood disorder characterized by gray platelets. The discovery enables early diagnosis with a DNA test, improving patient care and treatment options.
A team of researchers has identified a common mechanism between humans and zebrafish that regulates the circadian system. The discovery, published in PLoS Biology, could lead to new treatments for mental illness, metabolic diseases, and sleep disorders.
Researchers are studying the health of West Highland White Terriers (Westies) for insights into inflammatory bowel disease (IBD) and Legg-Calve Perthes Disease (LCPD). They have identified biomarkers for diagnosing canine IBD and found similarities between dog intestinal populations and human IBD.
Researchers have sequenced two isolates from an E. coli outbreak, providing valuable genomic information to aid in understanding the origins of highly pathogenic strains. The genome annotations reveal unique islands and proteins that may hold clues to virulence or intervention strategies for the new strains.
New studies at UCSB reveal wide-ranging variability in retinal neurons among individuals, with potential causal genes identified for cone photoreceptor production. The research contributes to a fuller understanding of retina development and its significance in vision research.
A novel gene called MLIP has been identified as affecting heart development and the aging process. The discovery opens up new avenues for understanding cardiac development and loss of cardiac function.
Researchers at CAMH have identified a new gene associated with Joubert syndrome, a type of intellectual disability affecting brain functioning and leading to symptoms like kidney and eye problems. The TCTN2 gene defect is linked to this condition, which affects approximately 1 in 100,000 children.
Researchers identified networks of genes crucial for healthy heart formation, shedding light on congenital heart disease. MicroRNAs regulate gene expression and dosage, and the study provides insights into the genetic mechanisms underlying fetal-heart development.
Researchers found that variations in the follicle stimulating hormone receptor (FSHR) gene may increase a woman's risk for delivering her infant prematurely. The study suggests that human gestation has been pushed to shorter times due to evolutionary changes, which could lead to new targets for therapeutic or preventive measures.
A consortium of researchers has identified four new genes associated with an increased risk of developing Alzheimer's disease. The study analyzed over 54,000 individuals and found that these genes contribute to the disease by disrupting brain biochemistry. Understanding the role of these genes could lead to the development of new treat...
Researchers identified four new genes, MS4A, CD2AP, CD33, and EPHA1, linked to Alzheimer's disease risk, adding to the understanding of the disease's causes. The findings may help determine who is at risk and aid in drug development.
Researchers have identified four new genes linked to Alzheimer's disease, adding to the existing understanding of its causes. The findings, published in Nature Genetics, provide key information for developing treatments and preventive measures.
A large-scale study identified four new genes linked to Alzheimer's disease, adding to the existing pool of genes that contribute to the risk. The findings provide valuable insights into the disease's underlying mechanisms and may lead to the development of more effective treatments and preventive measures.
Researchers have uncovered five new genes that increase the risk of developing Alzheimer's disease, adding to a total of ten identified genes. The study found that these genes are clustered in patterns, implicating immune system and cholesterol processing as risk factors.
A study identified three critical steps to transform normal blood cells into leukaemic ones, each subverting a different cellular process. The researchers found that NPM1 mutation is a key event in acute myeloid leukaemia development and can cooperate with other mutations to cause the disease.
Researchers have identified a gene, HLA-A*3101, that increases the risk of developing a severe skin reaction to carbamazepine in Caucasian patients. This discovery complements previous findings in Asian patients and may lead to more effective treatment strategies for patients with epilepsy.
A large-scale study led by the University of Leicester has discovered 13 new genes that increase the risk of heart attacks. The research, known as CARDIoGRAM, involved over 140,000 participants and 167 clinicians from around the world.
A multinational study found that a single gene mutation in the HMGA1 gene is responsible for type 2 diabetes in nearly 10 percent of patients of white European ancestry. This defect leads to insulin resistance and type 2 diabetes, providing a potential test to predict disease risk and identify effective treatment options.
Researchers have identified mutations in the MYH7 gene as a contributing factor to Ebstein's anomaly, a rare congenital valvular heart disease. The study found that these mutations can also be associated with left ventricular noncompaction, a condition that increases the risk of sudden cardiac death.
Researchers have developed a method to profile malaria-causing parasite P. falciparum, identifying genes associated with severe infection in pregnant women and children. The study aims to provide new understanding of childhood malaria severity.
A team of European researchers has generated a comprehensive digital gene expression atlas for the developing mouse embryo, revealing tissue-specific and overlapping gene networks. The atlas includes data for over 15,000 genes in hundreds of anatomical structures and provides insight into developmental processes.
Scientists at UC Davis have identified a gene called Cullin1 that acts as a biochemical gatekeeper, controlling whether or not pollen from related wild species can fertilize tomatoes. This finding has significant implications for plant breeding and understanding reproductive biology in the Solanaceae family.
Researchers have discovered genetic mutations in the FP/TMEM127 gene linked to a specific type of tumor that forms within the adrenal gland. These variants were primarily found in patients with tumors of adrenal localization and were associated with an average age at development of 42.8 years.
Researchers at Princeton University discovered a gene, CCDC40, associated with congenital heart defects in humans. The gene controls right-to-left patterning and is also linked to respiratory disorders.
A new gene, MAP3K1, has been identified as a crucial switch in determining gender development. The discovery explains the cause of intersex conditions and provides hope for patients and their families.
UT Southwestern researchers have identified a gene responsible for JMP syndrome, an extremely rare disorder characterized by severe joint stiffness, muscle loss, and panniculitis-induced lipodystrophy. The proteasome subunit beta-type 8 (PSMB8) gene mutation affects immune cell function, leading to inflammation and fat loss.
Researchers identified a plant clock gene that works in human cells and vice versa, with similar function. The study suggests convergent evolution as the explanation for this phenomenon, highlighting the importance of maintaining accurate circadian rhythms in both plants and humans.
Researchers have identified 30 new genes responsible for determining the age of sexual maturation in women, with many also influencing body fatness and energy metabolism. The findings could help combat diseases linked to early menarche, such as breast cancer and type 2 diabetes.
Researchers have identified DNA variants in two nervous system genes associated with an excessively high BMI, providing new insights into the genetics of obesity. The study used a novel approach to link rare and common regulatory variants to extreme obesity.
Infants have more efficient bacteria to digest milk due to specific bacterial strains dominating their digestive tracts. These strains, such as Bifidobacterium longum subsp. infantis, enable efficient growth on human milk oligosaccharides.
A recent study by Université de Montréal researchers has identified the KCNK18 gene as a key player in common migraines. The mutation disrupts TRESK protein function, altering electrical activity in nerve cells and increasing migraine risk. This finding may lead to new treatment options for people suffering from recurrent headaches.
A University of Michigan-led team identified a gene responsible for a devastating inherited kidney disorder using a new, faster genetic analysis technique. The success offers hope that scientists can speed the search for genes responsible for many rare diseases and test drugs to treat them.
Duke University researchers identified two genes influencing susceptibility to methicillin-resistant Staphylococcus aureus (MRSA) infections. The study suggests that genetic clues can help inform patient management and drug development, potentially saving lives.
Scientists have successfully sequenced the domestic apple genome, allowing for rapid identification of desirable genes and traits. The study also reveals the wild ancestor of the modern domesticated apple, providing a valuable resource for future research and breeding programs.
The domestic apple genome sequence has been published, providing valuable information for breeding apples with desirable traits such as disease resistance and flavor. The study confirms that the wild ancestor of the modern domesticated apple is Malus sieversii from southern Kazakhstan.
A team of researchers discovered a gene responsible for a rare and fatal disease in American Staffordshire terriers. The same gene is believed to cause a similar disease in humans. Genetic analysis led to the identification of an entirely new mutation, which can be tested in human samples to determine its connection to Kufs' disease.
Researchers have identified a single dominant gene from the Colorado germplasm line that provides resistance to wheat streak mosaic virus. The Wsm2 gene was mapped to chromosome 3B and can be used to track its presence in wheat breeding programs.
Researchers at the University of Gothenburg identified a gene responsible for barnacles reacting to medetomidine, a substance that prevents fouling on ship hulls. This finding enables the development of an environmentally friendly and effective antifouling paint that acts as a deterrent.
Researchers at the Hebrew University of Jerusalem have identified a gene associated with chronic pain susceptibility in humans. They found that genetic variants of Cacng2 were significantly associated with chronic pain in breast cancer patients after breast removal surgery, suggesting a potential link between genetics and pain perception.
Researchers found that genetic variation, known as gene expression noise, can lead to increased vigour in species hybrids. This study provides a new explanation for hybrid vigor, covering both natural and domesticated varieties.
Researchers identify genes causing sterility in yeast hybrids, shedding light on reproductive isolation mechanisms. A genetic mismatch between nucleus and mitochondria is found to be a common cause of sterility in yeasts.
A new study suggests that genetic variations in the APOL1 gene are responsible for population disparities in kidney failure, particularly among persons of African and Hispanic heritage. The findings highlight the importance of identifying genetic mutations associated with increased risk of chronic kidney disease.
A groundbreaking study published in BMC Medical Genomics found significant changes in gene expression due to cigarette smoke exposure. The research, involving 1,240 individuals, identified over 323 unique genes whose expression levels were correlated with smoking behavior, revealing a sobering link between smoking and gene expression.
Scientists combined new and classic approaches to identify a single genetic mutation causing metachondromatosis, a disorder characterized by bony growths. The study demonstrates the power of whole-genome sequencing technology in efficiently identifying genes responsible for Mendelian diseases.
U-M researchers identified a DIAPH3 gene mutation that causes over-production of a diaphanous protein, leading to hearing loss. The discovery will aid in developing genetic tests for auditory neuropathy, a rare disorder previously difficult to diagnose.
Researchers identified a previously unknown genetic location on chromosome 2p causing familial focal segmental glomerulosclerosis (FSGS), a common cause of kidney failure worldwide. The discovery may provide clues to disease mechanisms and lead to identification of specific and less toxic therapies.
A new study published in Genetics found that mutations in 10 different genes of worms can extend lifespan without reducing oxidative stress. This discovery challenges the long-held notion that oxidative stress is responsible for aging and suggests a slow rate of metabolism may be key to increasing longevity.
Researchers have developed an animal model that demonstrates the initial stages of atherosclerosis can be predicted by disturbed blood flow. The study identifies genes turned on or off in response to disrupted flow, providing new insights into how exercise may protect against the disease.
Researchers found rare genetic changes called copy number variants (CNVs) in nearly 2,300 people, which could account for up to 3.3% of autism cases. The study identified three new genes and pathways contributing to autism susceptibility.
The DOE JGI's new QC tool, GenePRIMP, helps check the quality of microbial genomic DNA sequences, reducing errors in gene annotations. With its ability to identify and correct anomalies, GenePRIMP facilitates comparative analysis and improves the overall accuracy of structural annotations.
Researchers found that genetic mutations affecting cilia function may predispose older individuals to pulmonary diseases. A simple nitric oxide testing can identify patients at risk of abnormal ciliary function.
A team of international researchers has identified 20 genes associated with osteoporosis and bone weakness, including 13 genes never previously associated with the disease. The study, published in Nature Genetics, provides new insights into the genetic mechanisms that control bone strength.
The GREAT algorithm allows scientists to analyze vast amounts of DNA sequencing data to reveal control regions for nearly any gene. Researchers can input a list of binding sites and receive an analysis of which genes are likely to be moderated by the transcription factor, including those far away from the coding sequence.