A recent study has uncovered a link between genetic variation and extreme body mass, suggesting that synonymous SNPs may affect mRNA splicing. The findings imply that subtle changes in genes involved in metabolism could lead to visible phenotypes later in life.
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A research team has uncovered the molecular mechanism by which osteocrin controls bone growth, a discovery that may have important implications for people suffering from bone diseases affecting skeletal growth. Osteocrin was found to locally control the bone's supply of a hormone known as CNP, regulating bone growth.
Scientists at Einstein College of Medicine identified two genes crucial for packaging fat into lipid droplets. Overexpressing these genes led to a significant increase in lipid droplet formation, while suppressing one of the genes resulted in a drastic reduction. This discovery could lead to new strategies for treating obesity and rela...
A new study published by Mayo Clinic researchers found that Herceptin helps women with HER2+ type of breast cancer independent of whether they have extra copies of chromosome 17. The analysis showed significant benefits for patients with polysomy 17, including a disease-free survival rate of 89% after three years of treatment.
Scientists have identified genetic differences that predict the effectiveness of antipsychotic drugs for patients with schizophrenia, Parkinson's disease, and drug addiction. These markers may enable doctors to match patients with the most suitable therapy, improving treatment outcomes.
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Researchers at Cornell University have identified over 300 new human genes using a comparative approach to the genome. These newly discovered genes are involved in various biological processes, including motor activity, cell adhesion, and central nervous system development.
Researchers developed a morpholino antisense oligonucleotide to correct the abnormal inclusion of exon 7a in ClC-1 mRNA, restoring chloride channel function and eliminating myotonia in mice with DM1. This approach may potentially treat myotonia in individuals with DM1.
A recent study from the University of Toronto found significant differences in how genetic material is spliced to create proteins in humans and chimpanzees. The researchers discovered that six to eight per cent of alternative splicing events showed differences, which are associated with various diseases.
Researchers found no link between the reg1 gene and pancreatic stone formation in patients with tropical calcific pancreatitis. The study suggests alternative mechanisms, such as calcium signaling, may be involved in stone formation.
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Scientists at NIAID identified a key factor contributing to the severity of community-associated methicillin-resistant staph infections. Novel proteins in drug-resistant strains of S. aureus attract and destroy protective white blood cells, ensuring the bacterium survives and causes severe disease.
Researchers find that bdelloid rotifers, an asexual organism, have evolved different gene functions to protect themselves during dehydration. This discovery provides insight into the benefits of asexuality and challenges the assumption that sexual reproduction is always necessary for survival.
The ENCODE project aims to identify and characterize regions of open chromatin, comprehensive characterization of the human transcriptome, and integrated annotation of gene features. This expanded effort will uncover even more exciting surprises about human health and disease.
Researchers have discovered a biological link between amyloid precursor protein and a gene variant linked to late-onset Alzheimer’s disease. This finding may lead to new therapeutic strategies for treating the devastating disease.
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.
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Fernandez-Funez will study ways to protect brain cells from damage by prions using genetically engineered flies that produce proteins like those found in 'mad cow' disease. His goal is to find new mechanisms of prion neurotoxicity and develop protective chaperone proteins.
A new study reveals that genetic variation in regions controlling gene activity is a significant contributor to common diseases. The researchers analyzed the activity of almost 14,000 genes and found over 1300 genes affected by DNA sequence changes in regulatory regions.
Researchers found that levels of CUGBP1 increase early in affected cells, playing a key role in the disorder. Myotonic dystrophy type 1 is associated with increased binds of muscleblind like (MBNL) protein, trapping genetic material and regulating gene expression.
Researchers at The Wistar Institute discovered that the addition of a single molecule at a specific site on p53 protein represses its activity, while adding a second copy reverses this effect. This nuanced regulation is crucial for maintaining optimal balance between cancer protection and normal growth.
Researchers have identified new proteins in amniotic fluid that could improve pregnancy marker development. Additionally, a study on the Wlds gene has provided insights into preventing neuronal communication deterioration in Alzheimer's disease. A comprehensive analysis of proteins in human Jurkat T cells has also been conducted.
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Researchers identify pur alpha protein as key player in FXTAS, a neurodegenerative disorder caused by CGG repeats in the FMR1 gene. The protein's sequestration leads to toxic brain aggregates and movement problems.
Scientists identified two SNPs in the LOXL1 gene that confer high risk of exfoliation glaucoma, a devastating eye disease. The variants account for virtually all cases of the condition, offering a promising target for therapy and potential elimination of the disease.
A recent study published in Nature Genetics has found a genetic mutation linked to systemic lupus erythematosus, a complex autoimmune disease. The discovery identifies variations of the TREX1 gene as a risk factor for developing lupus, shedding new light on its causes and potentially paving the way for new treatments.
Researchers created a tunable genetic switch to regulate gene expression, overcoming limitations of existing technologies. The switch enables precise control over gene function, offering potential applications in basic research, gene therapy, and cell and gene therapy.
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Research by Dr. Anthony Argentaro has advanced understanding of ATRX mutations that cause blood disorders and genital abnormalities in boys, finding excess or deficiency leads to developmental issues.
A study has discovered that many human genes hover between 'on' and 'off' in any given cell, failing to finish transcription but remaining primed. This vulnerability could explain why cells acquire new properties in diseases like cancer and diabetes.
A new model of early evolution directly connects population fitness to protein properties, resolving a key molecular evolution mystery. The study finds that survival depends on the stability of the least stable proteins, leading to an uneven distribution of fold and gene family sizes.
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Researchers discovered that plant growth is controlled by both internal clock and environmental light, with genes PIF 4 and PIF 5 playing a key role. The study found that plants grow more during the late afternoon when grown in constant light, but shift to dawn just before natural light/dark cycle.
Researchers at St. Jude Children's Research Hospital discovered how a single molecular switch triggers gene activity, affecting learning, memory and glucose production in the liver. The study shows that genes choose their co-factors, requiring a more complex view of CREB's function.
Researchers discovered that genes have internal clocks regulated by coactivators, controlling protein production and preventing cancerous growth. The coactivator's clock is set off through the addition of phosphate and ubiquitin molecules, with a fixed lifespan to prevent continuous activation.
Researchers at University of Warwick have discovered that female cells use thermodynamics to randomly select one X chromosome, resulting in an evolutionary advantage. This process is crucial for survival and has implications for understanding genetic diseases.
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A research team led by UCSD scientists has discovered how genetic mutations affect the structure of proteins implicated in autism spectrum disorders, contributing to developmental abnormalities. This study represents a solid starting point for understanding the disorder and developing new drug therapies.
Researchers at the University of California, Riverside have identified two key genes in black widow spider silk, which has superior strength and extensibility. The discovery may lead to the production of synthetic silk with similar properties, potentially used in body armor, medical devices and athletic attire.
Researchers discovered nearly a dozen additional heat-shock proteins that help insects survive cold temperatures. These proteins are essential for insect survival during diapause, a hibernation-like state that allows them to withstand low temperatures.
Researchers found that C. difficile expresses its pathogenicity during periods of nutrient deprivation, potentially leading to a new treatment approach. A five-gene region, known as the tcd locus, plays a crucial role in toxin production and cell membrane disruption.
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Scientists have discovered a novel gene-silencing mechanism that blocks cellular machinery responsible for protein production. This mechanism, involving microRNAs and ribosome interference, has implications for anti-cancer interventions and may be conserved across species.
MicroRNAs regulate cell division and development by blocking protein synthesis at its earliest stage, translation. Researchers developed a new method to study microRNA action in a test tube, revealing that they bind to messenger RNAs and prevent their translation into proteins.
A new study reveals how protein Yin Yang 1 regulates early B cell development, a crucial step in the immune system. The research demonstrates that YY1 plays a key role in controlling variable segment recombination, a process essential for B cell differentiation.
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Researchers at Baylor College of Medicine have identified more than 200 new proteins that interact with the mutated protein causing Huntington's disease, offering potential therapeutic targets. These interactions may modulate the effects of the protein, either improving or worsening symptoms, and could help accelerate disease onset.
Researchers at Imperial College London discovered that a protein called Flowering Locus T Protein (FT) plays a crucial role in plant flowering. The FT protein travels from leaves to the shoot apex, triggering the production of genes that cause flowers to bloom.
Two reliable methods are presented for creating and detecting specific proteins, as well as characterizing the activities of specific genes during embryonic development. The methods involve attaching a GST tag to a protein of interest or using a reporter protein to visualize gene expression in transgenic mouse embryos.
A recent study by Ohio State University researchers has identified a link between the absence of the Olig1 protein in lung tumors and poor survival rates among patients with non-small cell lung cancer. The findings suggest that patients with low levels of the protein may benefit from more aggressive therapy after surgery, potentially i...
A new theory by FSU researchers accurately predicts the association rate for proteins, a critical factor in biological processes. The theory could lead to more effective treatments for genetic disorders and other life-threatening conditions.
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Researchers found that the genetic code is nearly optimal for encoding signals of any length in parallel to sequences coding for proteins. The code is also organized efficiently, halting protein synthesis when necessary to conserve energy and resources.
Researchers found that splice-enhancer domains, which code for specific amino acids, influence protein evolution and are subject to selective pressure. Smaller exons near intron-exon boundaries also evolve more slowly.
Scientists have discovered that human proteins evolve slowly due to dual coding regions in their DNA, which slows down the rate of evolution. This knowledge can be used to develop more effective gene therapy techniques and potentially treat genetic disorders.
Researchers at UT Southwestern Medical Center have developed a novel method to activate specific genes using RNA strands, which can help alleviate disease conditions. By introducing tailor-made RNA strands into cells, the researchers can nudging genes into activity, potentially treating diseases such as cancer.
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Scientists discovered that bony fish duplicated their yolk-producing genes, allowing eggs to fill with water and float. This post-R3 lineage-specific gene duplication enabled hydration of maturing eggs, driving the evolution and success of marine teleosts in the oceanic environment.
A recent study by researchers at Rice University has identified a key role for the protein Ras in promoting nerve cell growth and tumorigenesis in individuals with neurofibromatosis. The study found that defects in the Nf1 gene disrupt the normal regulatory mechanism, leading to an overactive signaling pathway.
Researchers at USC have provided the first 3D view of a protein from an enzyme family that mutates genes to both help and hinder human health. The study sheds new light on the rare immune deficiency disease hyper-IgM immunodeficiency syndrome type 2 (HIGM-2).
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Invitrogen introduced its new free online scientific resource collection, iGene, allowing researchers to search for experimental reagents by gene or protein. The company also launched the Premo comeleon calcium sensor, which uses fluorescent protein color emission to detect calcium levels in live cells.
Researchers identify key genes and proteins involved in bringing chromosomes together during meiosis, shedding light on the evolution of sex. The study provides new insights into the role of zinc-finger proteins in stabilizing chromosome interactions during pairing.
Researchers have visualized alternative splicing in a living mammal, providing new insights into the genetic process that creates unique proteins. This discovery sheds light on how different tissues and organs produce varied proteins, which dictate their function, and may offer clues to diseases such as cancer.
Researchers have identified 381 proteins in the sperm of fruit flies, providing a new understanding of how sex evolved. This discovery could lead to breakthroughs in male infertility treatment.
A nationwide team of researchers has discovered several new biochemical pathways that play a central role in post-trauma immune system and organ failure. The study identified the genetic and protein changes in specific immune cells that determine whether trauma is fatal, providing potential insights into many diseases involving human i...
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A team of scientists created a molecular ruler using gold nanoparticles and DNA to measure protein-DNA interactions at high resolution. This tool promises to accelerate research into genetic information processing by detecting initial protein-DNA binding interactions.
Researchers at Johns Hopkins Medicine have identified a critical protein player in cell communication, which controls calcium flow into cells. This finding sheds new light on the rare cognitive disorder Williams-Beuren syndrome, associated with overly social behavior and spatial learning defects.
A study finds that the mutant huntingtin protein disrupts energy metabolism, leading to neurodegeneration in Huntington's disease. Researchers discovered that PGC-1a levels are lower in affected cells, suggesting a protective role for the protein.
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Researchers can now identify protein-DNA interactions in complex organisms using a freely available protocol developed by Dr. Marian Walhout and her colleagues. Additionally, the MuDPIT method enables the identification of rare proteins in complex mixtures.
Researchers identified a new gene, SUMO1, as a potential cause of cleft lip and palate when underexpressed. The discovery links individual genes to shared protein networks, providing a promising new lead in understanding the complex genetic mechanisms behind this birth defect.
Recent breakthroughs have enabled researchers to construct an atom-by-atom model of the ribosome, a complex molecular machine responsible for synthesizing proteins. The high-resolution images reveal detailed interactions between the ribosome, messenger RNA, and transfer RNAs, providing new insights into protein synthesis.