Research found that gene expression and alternative splicing vary significantly between blood and brain tissues, with potential implications for understanding diseases such as epilepsy and Alzheimer's. The study suggests that genetic variation affecting splicing may be more relevant to disease than variations in overall gene expression.
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A new international public-private partnership aims to develop small molecule inhibitors for 25 proteins involved in epigenetic signalling. The project, led by the Structural Genomics Consortium, involves major pharmaceutical companies and academia.
Researchers at the University of Rochester have designed a gene that produces a thousand times more protein in cancer cells than in healthy cells. This new approach allows for the insertion of 'self-destruct' codes, forcing cancer cells to kill themselves while healthy cells remain unaffected.
Researchers identified genes that code for proteins controlling gene reading, revealing 'gene grammarians' linked to DNA structure. This discovery provides new insights into epigenetic control and environmental effects on the human genome.
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Researchers discovered the MLL-AF4 protein binds to over 169 genes in cancer cells, hijacking blood stem cell machinery and causing cancerous cell division. This understanding may lead to new drug targets for treating mixed-lineage leukemia.
Two proteins, CUGBP and MBNL1, play crucial roles in switching alternative splicing patterns during heart development. The study provides insights into normal heart development and has implications for understanding myotonic dystrophy.
David Baker is being honored for his work on predicting protein structures from amino acid sequences and developing new protein folds. His research has led to practical applications in designing new medications and molecular therapies, as well as a better understanding of degenerative diseases.
Scientists have discovered a new clue for understanding how misfolded proteins cause cell death in Huntington's disease. The study found that polyQ-expanded proteins interact with and trap other proteins, leading to a breakdown in protein quality control, which may contribute to the disease's toxicity.
Scientists have found that nearly all human genes, about 94 percent, generate more than one form of their protein products through alternative splicing. The phenomenon varies significantly between tissues, with mRNA expression dependent on the tissue where the gene is expressed.
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A novel Brandeis University study reports on molecular gymnastics performed by a protein involved in regulating DNA transcription. The research uses state-of-the-art tools and simple methods to observe the shape and behavior of individual DNA molecules.
Scientists have identified intricate biochemical networks involving a class of proteins that enable genes to express themselves in specific tissues. The discovery sheds light on gene regulation and its relevance to human diseases, including developmental illnesses such as autism and heart disease.
Scientists have found a novel linear chromosome in cyanobacterium Cyanothece 51142, containing genes important for producing biofuels. The discovery was made possible by simultaneous DNA sequencing and protein analysis, which revealed more genes on the linear and circular chromosomes than previously thought.
A new drug therapy called VX-770 has shown promising results in improving the quality of life for cystic fibrosis patients. Early trials have demonstrated a 50% decrease in sweat salt concentration and a 10% increase in lung function, offering new hope for this devastating disease.
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Researchers found that both farnesylated and non-farnesylated progerin can cause symptoms of Hutchinson-Gilford progeria syndrome (HGPS), a rare childhood disorder resembling premature aging. The study uses a new mouse model to challenge the effectiveness of inhibitors of farnesylation as a potential therapy.
A genetic mutation in the filaggrin gene increases the risk of developing atopic dermatitis by threefold, while also predisposing individuals to hay fever and asthma. The study found that nearly 8% of German school children carry this genetic variation.
A new study by Claus Wilke and D. Allan Drummond found that genetic evolution prioritizes minimizing errors in protein production to prevent misfolded proteins, which can cause neurodegenerative diseases. The research may lead to better detection of genes with mutations leading to toxic proteins.
A Harvard University study reveals that genes have evolved to minimize protein production errors, which can cause neurodegenerative diseases like ALS. The research found that natural selection favors the development of genes that prevent misfolded proteins resulting from translation mistakes.
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The Gladstone Institute of Cardiovascular Disease has developed WikiPathways, an open collaborative platform for curating biological pathways. This tool enables easy participation from the scientific community in peer review, editorial curation, and maintenance of pathway content.
A team of scientists found that genes controlling heme synthesis in red blood cells also control a gene and protein causing Parkinson's disease. The study suggests that targeting the GATA-1 and GATA-2 proteins may lead to new treatments for the neurological disorder.
Scientists have created a comprehensive 'parts list' to date for mitochondria, including nearly 1,100 proteins, with insights gained into the biological roles and evolutionary histories of key proteins. The researchers identified a mutation in a novel gene as the cause behind one devastating mitochondrial disease.
Researchers have discovered two drugs that can improve memory in a mouse model of Alzheimer's disease by inhibiting calpains. Additionally, they found stabilizing molecules for the faulty PAH protein in phenylketonuria (PKU), and identified a genetic marker for predicting prostate cancer spreading.
Researchers have identified two key loci responsible for extreme fruit size in tomatoes, including the fas locus that controls cell division and the locule-number locus that affects carpel number. This study provides a significant breakthrough in understanding tomato domestication and opens up new avenues for crop improvement.
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The Rong Li Lab has discovered that TNF-alpha disrupts the localization of polycystin 2, promoting cyst formation in ADPKD. Inhibiting TNF-alpha with etanercept may prevent cyst development, providing a potential treatment for PKD.
Researchers at the University of Texas Medical Branch have created new vaccines for West Nile and Japanese encephalitis viruses, showing promise in providing immunity against these deadly diseases. The 'pseudoinfectious' vaccines use genetically modified viruses that can only infect a single cell, mimicking a viral infection without am...
Researchers found that reduced SMN protein levels impair the biochemical balance needed to make snRNP complexes for splicing RNA, producing abnormal mRNAs in various tissues. This discovery suggests that spinal muscular atrophy is a general disease of splicing that can affect all cell types.
Researchers suggest a novel approach to reducing VEGF-induced vision loss by targeting Src kinases, offering a potential alternative to painful eye injections. Leaky Ca2+ release channels in the brain and heart may also contribute to seizures and irregular heartbeats in individuals with certain inherited disorders.
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Researchers at Cold Spring Harbor Laboratory have identified a new class of small RNA molecules that modify gene activity and suppress transposable elements in fruit flies. These findings expand our understanding of the regulation of gene expression and blur distinctions between previously identified classes of small RNAs.
A new study reveals that diet and lifestyle are not the only factors influencing blood protein levels, with genetics playing a significant role. The study identified variations in genes associated with key proteins like HDL cholesterol and interleukins, which play roles in inflammatory diseases.
Researchers found that slow fetal growth is linked to an increased risk of developing type 2 diabetes in adulthood. They also identified a new gene mutation associated with sudden cardiac death in humans. The study used rat models and human tissue samples to understand the mechanisms behind these diseases.
In a developing nervous system, peripheral nerve cells compete for NGF availability, with stronger connections surviving while weaker ones die. Target tissues release NGF protein, which changes from a growth cue to a survival factor, ultimately determining cell fate.
Researchers have discovered that Properdin, a protein linked to defence against meningitis, plays a more vital role than previously understood in the body's immune defence system. The study also found that Properdin can aggravate organ damage in certain conditions.
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Researchers at Duke University Medical Center have discovered that beta arrestins, which stop cell signals, also initiate pathways to produce new proteins in virtually all tissues. This new pathway has opened up new avenues for studying protein manufacturing and controlling biological functions.
Human cells have a natural surveillance system called nonsense-mediated mRNA decay (NMD) that detects and eliminates flawed mRNAs, which can cause genetic diseases. The study reveals that repression of protein synthesis during NMD is controlled by the attachment of phosphate groups to human UPF1.
New data reveals miRNAs control female mouse fertility by regulating the corpus luteum's blood vessel formation and TIMP1 expression. Injection of specific miRNAs into ovaries improved corpus luteum function in Dicerd/d mice.
The Protein Data Bank has reached a significant milestone with its 50,000th molecule structure archived. The archive now contains vital information for pharmacology, bioinformatics, and education.
Researchers at Helmholtz Munich have identified a novel Connexin-like gene mutation that affects early lens development in mice, causing microphthalmia and cataracts. The study suggests that faulty cell communication between developing lens fibers may lead to the cloudiness of the eye lens.
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Researchers have induced cells to replenish the protein deficient in spinal muscular atrophy (SMA) by activating an existing, slightly modified copy of the mutant gene. Alternative splicing compensates for the missing gene, holding out hope for one day successfully treating this often-fatal disease.
Scientists at Cold Spring Harbor Laboratory discovered that protein Pum helps build memories by selectively altering individual synapses in fruit flies. The study, published in PLOS Computational Biology, used computational analysis to predict the interactions of Pum with other genes and confirmed its role in memory formation.
Researchers have produced the first detailed analysis of a hominoid-only gene, TBC1D3, which is linked to cancer. The study found that the protein helps turn on RAS, a protein active in a third of all human cancers. Further research aims to uncover the functions of human-only genes and their potential applications in fighting diseases.
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Scientists have identified genes and processes that may underlie the susceptibility to Parkinson's disease. The study found that the gene sir-2.1 has a significant effect on protein formation, which is thought to play a role in the aging process and the development of the disease.
Researchers have discovered a fusion protein that may contribute to Cockayne syndrome, a debilitating disorder marked by premature aging and neurodegeneration. The study suggests that the CSB gene's continued expression of CSB-related proteins or protein fragments plays a crucial role in the disease's development.
A study found that variations in the PON1 gene and its related enzyme activity increase cardiovascular disease risk, with higher PON1 activity linked to lower major adverse cardiac event rates. The researchers also discovered a dose-dependent association between PON1 gene polymorphisms and increased oxidative stress levels.
The Human Proteinpedia portal integrates and shares human protein sequence data, facilitating comparisons and interpretations. It offers a standardized view of the proteome, allowing registered users to deposit, retrieve, and share validated data.
The MMB/dREAM complex, composed of Myb and E2F2-RB proteins, epigenetically regulates expression of the Polo kinase in Drosophila. Disruptions to this pathway are associated with human cancers and may lead to similar epigenetic changes.
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Researchers analyzed skin biopsies from patients with acne before and after 1 week of treatment with 13-cis RA, suggesting new treatments may be developed to combat severe side effects. Estradiol-binding proteins play a role in protecting against hearing loss, potentially leading to new treatments for this condition as well.
Researchers discovered a protein imbalance in Parkinson's disease patients and found that adding a phosphate group can reduce toxicity. The study suggests alpha-synuclein protein plays a key role in brain cell communication and may be a potential target for therapy.
A team at CSHL led by Professor Leemor Joshua-Tor discovered a new wrinkle in the regulation of gene expression that governs metabolic state in yeast cells. The discovery revealed a key role for the NADP molecule in adapting to changes in nutritional environments.
A study found that genetic variations modifying MBL2 expression are associated with more severe CF symptoms, including faster lung decline in patients deficient in the protein. This may lead to new approaches for treating those at risk of increased disease severity.
A study found that genetic variations in the MBL2 protein are associated with more severe clinical symptoms of cystic fibrosis. In contrast, daily administration of growth hormone increased CD4+ T cell numbers in HIV-1 infected individuals, potentially treating conditions where CD4+ T cell function is impaired.
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Researchers at Stanford University used an optical trap to physically pull and fold a 3D RNA molecule, revealing the step-by-step formation of its tertiary structure. This breakthrough provides unprecedented insight into molecular folding behavior and opens doors for detailed studies of other molecules.
Researchers at Stanford University use an optical trap to physically manipulate RNA molecules, directly observing their three-dimensional folding for the first time. The study reveals the energy and folding behavior of a riboswitch, providing new insights into how biomolecules take shape and function.
Researchers at Rockefeller University have identified a crucial signaling molecule, BMP6, that maintains cross-talk between skin cells controlling hair growth. This finding suggests that dermal papilla cells receive signals from their microenvironment to regulate key genes and features.
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VEGF-B has been shown to inhibit apoptosis in retinal cells and brain cells in mouse models of injury and stroke, suggesting its potential as a new treatment for neurodegenerative diseases. Autophagy is also identified as a virulence-associated trait and survival mechanism for the fungal pathogen Cryptococcus neoformans.
PARP-1 and histone H1 compete for binding to gene promoters, with PARP-1 turning genes on. The study reveals a surprising number of genes are kept on by the presence of PARP-1.
The Trainor Lab has demonstrated that inactivating the p53 gene can prevent Treacher Collins Syndrome, a rare craniofacial disorder. By inhibiting the p53 protein or inactivating the gene, neural crest cells can survive and form normal craniofacial structures.
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Scientists have uncovered a previously unknown mechanism that causes embryonic germ cells to go through a period of transcriptional silence, preventing the production of sperm or eggs. This regulation is crucial for germ cell development in various organisms and may hold significance for mammals as well.
A recent study by McGill researchers has identified that small genetic variations can significantly affect the way genes produce proteins, resulting in diverse physical characteristics. These changes may contribute to the development of diseases such as cystic fibrosis and Type 1 diabetes.
Scientists have discovered a way to eliminate the negative effect of M2 protein on anti-flu vaccination, increasing efficacy while maintaining safety. This breakthrough could lead to more effective and strain-specific vaccines against seasonal flu.
Researchers identified 273 human proteins required for HIV propagation using RNA interference, a technique that was previously untested on this scale. The study provides new insights into the HIV life cycle and offers potential new therapeutics.
A team from Duke University Medical Center isolated sex-determining genes from an ancient fungus, Phycomyces blakesleeanus, which contains insights into the evolution of human sexual differentiation. The findings suggest that HMG-domain proteins may have marked the beginning of sex determination in both fungi and humans.
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