Articles tagged with Splice Sites
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.
A team of researchers has identified a mechanism that interferes with the splicing process in a more subtle way, leading to cell death. The study reveals that spliceosome subunits U4, U5, and U6 are normally stabilized by protein USP39, but when mutated or absent, stability is compromised, causing incorrect connections during splicing.
Researchers discovered that hnRNPM prevents errors in protein synthesis by blocking pseudo splice sites, maintaining accurate mRNA molecules. In its absence, cancer cells exhibit increased cryptic splicing, triggering interferon immune responses and potentially driving disease progression.
A novel mechanism for splicing human short introns has been discovered using the SAP30BP-RBM17 complex. The researchers confirmed that the established pre-mRNA splicing mechanism cannot work in a subset of human short introns.
Researchers have identified three novel pathogenic variants of the ATR gene as predisposing to male breast cancer. These variants were found in a cohort of individuals with early onset and familial breast cancers, using a combination of exome sequencing and functional investigations. The study suggests that extended genetic analysis ca...
Researchers at Children's Hospital of Philadelphia developed ESPRESSO, a new computational tool that can accurately discover and quantify RNA molecules from error-prone long-read RNA sequencing data. This will enable better diagnosis of rare genetic diseases and discovery of potential therapeutic targets in cancer.
Researchers from Tokyo Medical and Dental University have developed a new approach to analyze splicing variant data to identify disease-associated genetic variations. The study reveals that analyzing the coding sequences of gene splicing variants can help uncover the genetic basis of many diseases.
Splicing errors can lead to faulty proteins, increasing disease risk. Researchers analyzed 32,000 DNA sequences to understand the rules guiding RNA processing and improve predictions of genetic mutations' impact on disease risk.
Researchers at Brown University discovered over 800 tiny genetic loops, called lariats, in human tissues, providing new insights into RNA splicing decisions. The location of branchpoints on these lariats reliably predicts where splicing will occur, enabling the creation of an algorithmic model with 95.6% accuracy.
A Cold Spring Harbor Laboratory study reveals a new way in which the cell's splicing machinery recognizes splice sites, impacting current ideas on how missteps triggered by mutations can lead to diseases. The discovery affects up to 5% of all splice sites and has implications for pinpointing splicing defects underlying certain diseases.
A new web-based program called Spliceman predicts whether genetic mutations will disrupt mRNA splicing, a process crucial for gene expression. The software uses research to show that many disease-causing mutations occur due to faulty splicing instructions.
Researchers discovered that U1, a guiding RNA molecule, can 'slide' one base to recognize atypical splice sites, explaining the genetic error in PCH. This shift enables U1 to form stronger matches with divergent sequences.
The study reveals that small changes in nucleotide sequences near splice points can lead to significant changes in splice site choice and protein production. The discovery suggests that curing most genetic diseases will take longer than expected due to the complexity of alternative splicing mechanisms.
Researchers found that low temperatures trigger a specific splicing mechanism in frq mRNA, excluding the l-FRQ translation initiation site and modulating circadian rhythmicity. This temperature-dependent inhibition of translation by uORFs effectively regulates FRQ levels and circadian rhythms.
Researchers develop novel approach to treat thalassemias by blocking aberrant RNA splicing. The new virus effectively repairs existing RNA, restoring correct hemoglobin production and offering a lifeline for patients.