Researchers discovered a crucial role of alternative RNA splicing in schizophrenia by identifying genetic variants affecting splicing and protein isoforms. The study highlights the significance of unannotated isoforms in disease pathogenesis and suggests potential avenues for targeted therapeutic strategies.
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A study by University of California, Riverside scientists found that alternative RNA processing, or
A new method called GenomePAM enables targeted modification of genomes using CRISPR technology. This breakthrough accelerates the development of precision gene editing tools and advances clinical drug development.
Researchers at the University of Sydney developed a biological 'artificial intelligence' system called PROTEUS, which can accelerate cycles of evolution and natural selection to create molecules with new functions in weeks. The system has potential applications in finding new medicines and improving gene editing technology like CRISPR.
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Researchers have identified a four-amino-acid mini-exon in the PTPδ gene that plays a critical role in brain development and behavior. The study found that deleting this mini-exon led to anxiety-like behavior and reduced movement in mice, highlighting its essential role in maintaining synaptic balance.
Researchers have elucidated the molecular mechanism by which LEM-3 cuts DNA bridges during cytokinesis, a crucial step in cell division. The study found that LEM-3 is essential for resolving persistent DNA bridges and maintaining chromosomal stability.
Researchers at MIT have discovered that a genetic variant can lead to defects in transfer RNA molecules, causing embryonic face cells to fail to fuse properly. This study sheds light on the molecular mechanisms underlying cleft lip and cleft palate formation.
Researchers in the Galej Group at EMBL Grenoble have provided new structural insights into the U11 snRNP subunit of the minor spliceosome, revealing its ability to specifically identify rare substrates. The study sheds light on the complex assembly pathway of the minor spliceosome, which is critical for processing minor introns in genes.
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Researchers at Heidelberg University have successfully depicted a faultily 'blocked' spliceosome and reconstructed its recognition and elimination process. This breakthrough provides new insights into the quality control mechanism of the complex molecular machine, shedding light on how cells ensure accurate mRNA production.
A new gene editing tool called SPLICER has been applied to reduce the formation of amyloid-beta plaque precursors in a mouse model of Alzheimer's disease. The application shows improved efficiency over current standard gene editing technology and potential for application in other diseases.
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.
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The study reveals individual components of the spliceosome are highly specialised, with unique regulatory functions. Altering the expression of one component can have widespread ripple effects on the entire splicing network.
Researchers identified abnormalities in sex determination pathways of intersex mosquitoes, which can help develop strategies to create all-male populations to control mosquito numbers. Understanding these genetic factors also aids in identifying genes affecting female mosquito behavior.
Researchers at Osaka University have developed molecules that can correct improper splicing of a vital tumor suppressor gene in neuroendocrine cancers. The study demonstrates that these splice-switching oligonucleotides can significantly reduce viable cancer cells and tumor size in mice, suggesting a novel therapeutic approach for intr...
Researchers at Istituto Italiano di Tecnologia and EMBL unveiled how to modulate gene expression using small molecules. The study aims to develop new drugs specific to genetic mutations or alterations responsible for the onset of tumors or genetic diseases.
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When E. coli detects damage from antibiotic Ciprofloxacin, it sends out an SOS signal that alters cellular activity. The bacteria then mutate their DNA to repair the damage or adapt to resist the antibiotic. Researchers studied this process in detail using bioreactors and found all genes are activated simultaneously at the protein level.
A study by Cold Spring Harbor Laboratory has discovered two regulator proteins that work together to keep the splicing process on track. The research, led by Professor Adrian Krainer, identifies SRSF1's interactions with other proteins, providing new insights into how this critical regulator works.
Researchers at the University of Alabama at Birmingham have discovered that the protein SRSF1 can bind and unfold complex RNA Guanine-quadruplexes. This finding could provide new avenues for treating illnesses such as cancer, which is often linked to misfunctioning splicing processes.
Researchers created a first-of-its-kind super minigene to study the Survival Motor Neuron 2 (SMN2) gene, which causes spinal muscular atrophy. The compact model allows scientists to see how changes play out across the entire gene expression process.
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Researchers have discovered why some RNA-splicing drugs work better than others, revealing a key factor that impacts treatment efficacy. By analyzing the interactions between drugs and RNA, they found that combining splice-modifying drugs targeting the same gene segment can lead to greater therapeutic effects.
Researchers found that pancreatic cancer cells employ a 'favorable genetic reshuffling' to evade treatments, leading to a potential breakthrough in developing targeted drugs. Alternative splicing plays a crucial role in this process, and the study identifies a specific splicing regulator called 'Quaking' that promotes chemoresistance.
A team of researchers at the University of Cologne has discovered a protein complex called C/EBP heterodimer that directs cells towards a dormant state in response to faulty gene expression. This mechanism, known as cellular senescence, can protect tissues from damage but also promote disease and ageing.
A study published in PNAS reveals that light controls the post-transcriptional splicing of genes regulating photosynthesis in mesophyll cells. This process is co-regulated by AtPRMT5 and COP1, allowing plants to adapt to changing light conditions.
A new study using CRISPR technology enables researchers to activate genes in easily accessible cells, providing a potential breakthrough in the diagnosis and understanding of rare genetic diseases. This method could revolutionize the process by enabling faster results within weeks.
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Researchers found that calcium channel blockers can reverse symptoms of myotonic dystrophy in animal models, a potential new treatment for the disease. The study suggests that targeting the calcium channel could improve muscle function and health, offering hope for patients with this debilitating condition.
Researchers developed novel small molecule inhibitors of CPSF3, a key regulator of transcription termination in ovarian cancer cells. These inhibitors exhibited potent antiproliferative effects and suppressed tumor growth in vivo.
Researchers at Johns Hopkins have published a guide for prioritizing the next steps in completing the human genome catalog. The study highlights the importance of cataloging non-coding RNA genes and enhancing databases of gene variations that cause illness and disease.
A team of New York University computer scientists created a neural network that can explain how it reaches its predictions, shedding light on the intricacies of RNA splicing. The breakthrough reveals how a small, hairpin-like structure in RNA can decrease splicing and provides new insights into the transfer of genomic information.
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A new technology has identified a genetic abnormality causing xeroderma pigmentosum (XP)-F, a skin disorder. The technique effectively reversed many cellular phenotypes associated with XP and may be effective for genetic treatments of other diseases.
Researchers developed a new technique, GoT-Splice, to analyze RNA splicing in individual cells, revealing how mutations in genes controlling this process lead to diseases. The study linked these mutations to specific changes in immature red blood cells and discovered disruptions in the gene BAX.
Researchers have successfully visualized the three-dimensional structure of human tRNA splicing endonuclease TSEN, a crucial enzyme in tRNA maturation. The study reveals how TSEN recognizes and excises introns from precursor tRNAs, shedding light on its role in neurodegenerative disorders like pontocerebellar hypoplasia.
A research team has identified a previously unknown weak spot in prostate cancer cells that could lead to new therapeutic approaches for other types of cancer. The study found that inhibiting this process can reduce cancer growth without affecting normal cell growth.
Researchers identify SRSF1 as a key player in promoting pancreatitis and pancreatic cancer growth. High levels of SRSF1 are associated with worse patient outcomes, highlighting its potential as a target for new therapies.
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Scientists from USC Stem Cell laboratory discovered a mechanism linking leukemic mutations to varying disease potentials, identifying RNA splicing regulator Rbm25 as a critical factor. The study found that over-contributing clones of blood stem cells produce excessive myeloid cells, leading to potential leukemia development.
Researchers at Lund University discovered a novel mechanism linking RNA splicing to the development of leukemia in myelodysplastic syndrome patients. The study highlights the critical role of core spliceosome component SF3B1 and its regulation by N6-methyladenosine (m6A) modification, which provides a
Scientists create wearable sensors using biodegradable nanowires that can detect various chemical tracers, including those associated with asthma and kidney disease. The breakthrough represents a new paradigm in electrical engineering, offering a sustainable alternative to traditional silicon-based nanowires.
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Researchers created a mouse model that demonstrates how RNA splicing defects contribute to neurodegeneration in Alzheimer's disease. The findings show that dysfunctional U1 snRNP leads to excitatory toxicity and accelerates cognitive decline, opening new avenues for treatment.
Researchers identified Srrm3 as a master regulator gene for photoreceptor cells in the retina, which is critical for visual function. The study found that misregulation of alternative splicing and microexons can lead to devastating health impacts, including vision loss.
Researchers have created stem cell models that mimic the genetic disorder, revealing the role of WASP protein in regulating RNA splicing and finding potential therapeutic targets. These findings could lead to new treatments for Wiskott-Aldrich syndrome, a devastating immune deficiency disorder.
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Researchers developed a new high-throughput technique to study gene splicing, tracking thousands of genes in real-time. The results show that splicing occurs far more often than previously thought, with significant variability in gene expression timing.
Researchers at the University of Trento have developed a genome editing strategy to permanently correct two types of mutations that cause cystic fibrosis. The 'SpliceFix' technique uses Crispr-Cas to edit patient-derived organoids, showing high precision and efficacy.
A new study using MaPSy technology identifies nearly 500 genetic mutations that cause errors in gene splicing, which can lead to diseases. The research also discovers patterns and predictions of problems, including vulnerabilities in genes and specific mutations that can be fixed.
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Commercial antibodies used in research often fail to function properly, but DNA technology can solve this problem by producing high-quality antibodies. The authors advocate for the use of recombinant DNA technology to improve reproducibility and reduce waste in biological science.
Researchers have developed a promising new approach to editing gene transcripts, which uses targeted oligonucleotide drugs. This technique has already shown promise in treating diseases such as Duchenne Muscular Dystrophy and spinal muscular atrophy.
Scientists have identified a key role for protein Rnpc3 in the growth of organs during zebrafish development, revealing insights into the causes of Taybi-Linder syndrome. Minor class splicing is critical for gene expression regulation, with defects potentially affecting multiple genes.
Researchers from Brandeis University and UMMS discovered that the spliceosome's major components can attach in any order, eliminating the need for precise communication. This breakthrough sheds light on the process of RNA splicing, a crucial step in protein synthesis, and holds promise for understanding diseases like cystic fibrosis.
Researchers discovered a new aspect of the gene-splicing process that produces messenger RNA, controlled by the rare small RNA U6atac. This mechanism regulates hundreds of genes involved in cell growth, cell-cycle control, and global physiology.
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Biologists have developed a fluorescent reporter to track ADAR's RNA editing activity in living animals, showing surprising individual variation in fruit flies. The tool reveals ADAR's role in gene expression and disease, offering new insights into RNA editing errors.
Researchers discovered that U1 plays a crucial role in protecting mRNA transcripts from premature termination. By binding to the transcriptome, U1 keeps the cleavage/polyadenylation machinery in check until the RNA polymerase enzyme reaches its finish line.
Researchers have discovered a novel protein, MRG15, that directs the gene-splicing machinery, leading to aberrant proteins that can damage cells and contribute to diseases such as cancer and aging. This finding has implications for developing new therapies to treat these conditions.
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Researchers at Mayo Clinic discovered that loss of progranulin gene causes errant splicing of a protein that disrupts normal functioning of neurons. Accumulation of toxic TDP-43 proteins is found in several neurodegenerative diseases, including Alzheimer's Disease and Frontotemporal Dementia.
Researchers design a custom mask to camouflage abnormal gene splicing, restoring the correct genetic blueprint. The approach shows promise in treating cancer and other diseases caused by genetic mutations, with future testing planned in mouse models.
The study found that deleting yeast gene ISY1 increases splicing reaction efficiency and improves 3'-splice site accuracy. The researchers believe Isy1 regulates spliceosomal conformation to ensure accurate pre-mRNA splicing.
Researchers developed a recombinant fusion protein that can be orally administered, increasing white blood cell count for three days. This breakthrough uses transferrin to bind to intestinal cells and transport the protein to the bloodstream.
Dr. Maxine Singer has made significant contributions to advancing science, scientific achievements, and services to the scientific community. She was recognized with the 2004 AAAS Philip Hauge Abelson Prize for her tireless advocacy for biomedical research and public trust in the scientific enterprise.
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Scientists have found that functional forms of missing tRNA genes can be created by copying from distant DNA sequences and joining them. This discovery sheds light on the evolution of extremophiles in the Archaea kingdom.
Researchers have devised a method to correct RNA splicing defects implicated in breast cancer and spinal muscular atrophy. The technique uses designer molecules that can be programmed to bind to specific pieces of RNA, correcting the splicing error and producing normal messenger RNA.
Familial Dysautonomia, a devastating disorder, has been linked to mutations in the IKBKAP gene. The gene's disruption leads to poor development and degeneration of sensory and autonomic nervous systems, resulting in symptoms such as abnormal sweating and insensitivity to pain.
Scientists found that RNA editing is essential for developing mature red blood cells in mammalian embryos. The study reveals that the ADAR1 gene plays a critical role in this process.
Scientists have identified a major susceptibility gene for type 2 diabetes in Mexican Americans, also affecting two European populations. The discovery provides new approaches to prevention, diagnosis and treatment of the disease.
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