A new mass spectrometry-based technique provides high-throughput analysis of proteins like IGF1 at a rate of over 1,000 human samples per day. The method accurately characterizes protein structure and variants, offering a detailed portrait of protein information not available through traditional ELISA tests.
Researchers suggest that far-flung genome mutations could activate cancer-causing genes by disrupting enhancer function. The study found that MLL family proteins play a crucial role in regulating gene expression at enhancers, and that mutations in these proteins can promote oncogenesis.
Researchers have developed a new tool that combines genetic and epigenetic data to identify the underlying causes of complex diseases. By analyzing overlapping patterns, scientists can pinpoint specific genetic variants linked to conditions such as cancer and metabolic disorders.
Researchers at Johns Hopkins Medicine used a powerful data-crunching technique to understand how the protein Dom34 keeps defective genetic material from disrupting cellular functions. The study found that Dom34 'rescues' protein-making factories called ribosomes when they get stuck obeying defective genetic instructions.
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The study found that hRAMP1-over-expressing MSCs inhibit neointimal proliferation and improve infarcted heart function in rabbit models. This approach may be useful for treating damaged vessels and the infracted heart.
A team of Caltech researchers has developed a mathematical model to describe the competition between genes for regulatory proteins. The model accounts for the limited availability of transcription factors, leading to correlations between gene copies and a regime where some portion glows green all the time.
A team of scientists has discovered that a single amino acid difference in histone H3.3 enables it to serve as a memory device for the cell, marking genes that need to remain active. This epigenetic modification acts as a flag, signaling to the cell that genes in the vicinity should be inactive.
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Scientists have identified a mutant gene in fruit flies that disrupts their ability to sleep, leading them to discover a protein that regulates sleep patterns and cycles. The discovery could lead to new treatments for insomnia and sleep disorders in humans.
Researchers have identified a genetic cause for premature ovarian failure, finding that mutations in the STAG3 gene lead to infertility. The study analyzed samples from a consanguineous family and confirmed that the mutation affects both males and females, making it a strong candidate for male infertility as well.
A new gene has been isolated that plays a causal role in the development of Alzheimer's disease. The gene affects amyloid-beta protein accumulation, leading to brain damage and disease progression. This breakthrough could lead to new avenues for therapeutic design and early detection methods.
Researchers at Uppsala University have challenged the established model for gene regulation by directly measuring transcription factor concentrations in living cells. They found small but significant differences between measurements, opening up new possibilities for understanding gene regulation.
Scientists at Washington University School of Medicine have identified a rare genetic disease caused by the misplacement of a normal protein, phosphotransferase. The protein ends up in the lysosomes, causing a shortage of enzymes and leading to skeletal and heart abnormalities.
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Researchers identified a protein that broadly regulates mRNA editing, enabling the creation of multiple proteins from a limited number of genes. This discovery may help understand genetic mechanisms of diseases and identify new therapeutic targets.
A new study uncovers ADR-1 as a critical regulator of RNA editing, allowing genetic information diversity and affecting numerous human diseases. The protein's binding ability enhances mRNA editing, with decreased expression linked to neurological disorders and cancers.
Researchers discover that Ataxin-7 anchors a key module in the SAGA complex, which regulates thousands of genes. Without Ataxin-7, this module becomes overactive, leading to misregulation of genes and neurodegeneration in fruit flies.
Gary Ruvkun, PhD, and Victor Ambros, PhD, discovered that microRNAs regulate gene expression by binding to messenger RNAs, controlling protein-coding genes in animals. The researchers' work is recognized as a significant contribution to understanding the human genome and its role in disease.
Researchers identified a fungal surface protein that promotes invasion of host cells in mucormycosis. The loss of this protein decreases infection and virulence in Mucorales fungi.
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Researchers at the University of Washington have discovered a second code hidden within DNA that instructs cells on how genes are controlled. This finding has significant implications for interpreting genome data and diagnosing diseases.
Researchers found that gut microbiota influences MicroRNA expression in mice infected with Listeria monocytogenes. Conventional mice exhibited lower miRNA levels after infection compared to germ-free mice, suggesting a protective role for the gut microbiome.
A new public resource, The Lens, brings transparency to gene patenting by analyzing over 120 million DNA sequences and 10 million protein sequences from global patent documents. Researchers can explore who has sought patents on genes and proteins in any organism, promoting a transparent and fair society.
Scientists found two human proteins, UPF1 and PCNA, that interact with a jumping gene called L1. The study reveals how these interactions affect the movement of L1 within the human genome, providing new insights into the regulation of this volatile DNA segment.
Researchers found that genetic differences in a vitamin D carrier protein referred to as D-binding protein could explain the discrepancy between diagnosed vitamin D deficiency and lack of symptoms in black Americans. The study suggests that current methods may not accurately determine vitamin D deficiency, leading to unnecessary treatm...
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Researchers at Karolinska Institutet have discovered nearly one hundred novel human gene regions that code for proteins, including pseudogenes linked to cancer. The study uses a new proteogenomics method to track down protein-coding genes in the remaining 98.5% of the genome.
Researchers have identified a genetic mutation leading to a reduction in proteins in the brain, causing intellectual disability. The study highlights the importance of unraveling the causes of these conditions, with potential implications for up to 3% of the population affected.
Bacteria and other organisms use proteins to quickly adapt to changing environments by regulating gene expression. A new study reveals how transcription factors bind to DNA and glide along the spiral path in search of binding sites.
Researchers at SISSA have identified a key mechanism by which riboswitches regulate gene expression in bacteria. By using computer simulations to model the dynamics of the process, they found that binding to a metabolite molecule stabilizes the active form of the riboswitch, triggering protein synthesis.
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Researchers at the University of Copenhagen have made significant discoveries about muscular dystrophy, a collective term for neuromuscular disorders affecting 3,000 people in Denmark. The study found that proteins with attached sugar molecules, specifically mannose, play a key role in the disease's progression.
Researchers found that excess protein EZH2 contributes to neuromuscular problems in A-T disease. By reducing EZH2, mice with A-T disease exhibited improved muscle control and coordination.
Researchers at UCSF have discovered a new way to target cancer by controlling cell growth and boosting protein production during the S phase of the cell cycle. This study has implications for the development of new cancer therapies.
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Researchers identify two rare gene mutations that increase generation and accumulation of toxic amyloid beta protein, impairing neural cell growth. The findings suggest the enzyme ADAM10 as a promising therapeutic target for treatment and prevention.
A newly discovered role for a protein family could provide a path to modifying crop traits. The discovery reveals that this protein regulates gene expression in response to light color changes, potentially allowing for new approaches to trait modification in agriculturally significant plant species.
University of Arizona researchers have discovered a new secret in spider venom, finding that the venom produces a different chemical product in the human body than previously thought. This discovery has implications for understanding how brown recluse spider bites affect humans and developing possible treatments.
Researchers have identified a link between VCP gene mutations and toxic protein buildup in ALS patients, providing a new approach for developing treatments against the devastating disease. The study suggests that activating autophagy to clear stress granules could offer a new strategy for treating neurodegenerative diseases.
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Researchers from UTHealth and Lund University have discovered a genetic variant in the Factor V gene causing an abnormal form of the protein FV-Short, leading to excessive TFPI formation and uncontrolled bleeding. The study provides insight into the clotting process and offers potential treatment possibilities for the rare condition.
Researchers have found that specific DNA sequences in enhancers affect gene activity, enabling the design of synthetic DNA for gene therapy. This discovery may advance efforts to treat diseases using gene and cell therapies.
A study published in Cell reveals the key role of bromodomain and extraterminal domain proteins in activating genes contributing to heart failure. BET-inhibiting drugs show promise as a new treatment avenue.
A study published in Cell has confirmed that non-coding DNA, previously considered 'junk', plays a crucial role in regulating cell development. The researchers found that certain white blood cells use introns to control the activity of genes involved in their function.
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Researchers found aberrant splicing changes the form of an enzyme involved in metabolism, leaving slow muscle fibers unable to sustain exercise. This discovery may explain the muscle wasting seen in myotonic dystrophy, a disease characterized by abnormal CTG repeats.
Researchers at Princeton University created enhanced proteins that respond quickly to changes in neuron activity, allowing for a more precise view of neuron signals. The new sensors can be customized to react to different rates of neuron activity, giving scientists a comprehensive understanding of brain-cell communication.
Researchers at University of Chicago Medical Center discovered a new layer of complexity in human gene expression, finding a single gene that encodes two separate proteins from the same mRNA sequence. This discovery could lead to a therapy for spinocerebellar ataxia type-6 (SCA6), a neurodegenerative disease.
Scientists have identified a genetic cause of diffuse non-epidermolytic palmoplantar keratoderma (NEPPK), a rare skin condition characterized by white and spongy hands and feet when exposed to water. The AQP5 gene mutation affects aquaporin 5 protein, leading to increased water permeability in the skin.
For the first time, a large complex of proteins and RNA has been identified in chloroplasts, which cuts non-coding regions out of messenger RNA to create a protein blueprint. The study reveals that this splicing complex contains 23 different proteins encoded in the cell nucleus.
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A Yale team identified a key molecular mechanism underlying higher-order thinking, which is impaired in schizophrenia. The discovery of the alpha7 nicotinic receptor's role in cognitive function may lead to new treatments for cognitive disorders.
Researchers mapped the genome's 3D structure, finding that selected exons are exposed and accessible to transcription machinery. This reveals a new mechanism by which the genome's folding regulates gene expression and splicing.
A Cornell University study provides evidence for the 40-year-old hypothesis that regulation of genes must play an important role in evolution. The researchers found that transcription factor binding sites show considerable amounts of positive selection, suggesting adaptation in these regulatory elements.
Researchers at the University of Pennsylvania designed a variant of the mu opioid receptor, which can be grown in large quantities in bacteria and is water-soluble, enabling experiments that were previously challenging or impossible. The new design allows for further iterations to be easily made alongside experimental conditions.
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Researchers discovered that the p63 protein acts as a genetic modifier for EEC Syndrome, with TAp63 determining its manifestation. The study reveals that levels of TAp63 determine whether children inherit the syndrome, providing new insights into this rare condition.
Scientists identify Gene Ataxin-2 as a key component of the circadian clock, which regulates sleep-wake cycles. The study found that Ataxin-2 helps activate translation of PER protein, keeping the clock on a 24-hour rhythm.
Mutations in lamin genes cause hereditary diseases like Emery-Dreifuss Muscular dystrophy and dilated cardiomyopathy by altering nuclear structure and gene expression. Restoring MKL1 activity may be a productive intervention mechanism for these devastating diseases.
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A study by Thomas Jefferson University researchers found that amplification of the Stat5 gene in prostate cancer cells leads to excess oncogenic protein, driving cancer spread. Gene amplification and protein levels increased with metastasis and castration therapy resistance.
Researchers at The Wistar Institute discovered ADAR1's critical role in regulating microRNA synthesis, which is essential for life. The protein combines with Dicer to create miRNA and siRNA, playing a crucial role in silencing specific genes.
Researchers identified a defective gene responsible for isolated congenital asplenia (ICA), a rare disorder characterized by the absence of the spleen. The RPSA gene mutation affects approximately 50% of patients with ICA, leading to a lack of splenic tissue.
Researchers identified genetic variants associated with long QT syndrome in a small number of cases of intrauterine fetal death, including stillbirths. The study found that these variants were more common in late miscarriages and stillbirths than expected, suggesting a potential link between LQTS and intrauterine fetal deaths.
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A study led by Paula Duque discovered a gene ZIFL1 that encodes two proteins with different biological roles in plants. The researchers found that the gene's two proteins are involved in hormone transport and drought tolerance, challenging the long-held notion that each gene can only codify for one protein.
Researchers at the Weizmann Institute of Science created a two-dimensional cell-like system on a glass chip, enabling precise observation of gene expression and protein behavior. The system allows for the simultaneous production and trapping of multiple proteins, revealing a spectrum of protein activities.
Researchers identified an enzyme that removes ADP-ribose modifications from proteins, essential for normal cell function. This finding provides a new pathogenic mechanism for neurodegenerative disorders and may lead to the development of new cancer drugs.
Researchers found that mutations in MECP2 gene at specific locations influence disease symptoms and progression. Mice studies revealed a difference in symptoms between mice with mutations at amino acids 270 and 273.
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Researchers have achieved a major advance in understanding genetic information transcription from DNA to RNA, illuminating critical molecular interactions during the step-by-step process. The study provides new insights into how proteins work together to ensure accurate loading of DNA into Pol II at the start of a gene sequence.
Scientists at Queen Mary University of London identified a gene linked to resistance in melanoma tumour cells. The gene TP63 was found to correlate significantly with a worse prognosis in melanoma patients.
A team of researchers found that non-optimal codon usage slows translation of the genetic code into protein, allowing it to achieve its optimal structure. This discovery provides new insights into controlling the rates at which critically important proteins are synthesized and could lead to better understanding of cancers and diseases.
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