Articles tagged with Gene Identification
A variation in the POC5 gene was found to be associated with familial scoliosis in a large French family study. The gene encodes for a centrosomal protein involved in microtubule-organising centres and cellular polarity, leading to rotational deformations similar to those observed in scoliosis patients.
A study published in Nature Communications identified Sestrin 3 as a major regulator of the epileptic gene network, which could lead to more effective treatments. The researchers used novel computational and genetics techniques to analyze the activity of genes in epilepsy, providing new insights into the disease.
A molecular network composed of 119 proteins has been identified as a crucial contributor to autism spectrum disorders. The network shows strong enrichment for known autism genes and is linked to disruptions in brain circuitry, particularly the corpus callosum.
Researchers have identified bacterial genes that help UTIs spread, providing a potential new target for treating UTIs. The study reveals the specific genes expressed by E. coli bacteria in human urinary tract infections, which can be attacked to promote survival of the bacteria.
A study published in Molecular Psychiatry has identified a network of genes associated with alcohol dependence. The researchers found that certain sets of genes were co-expressed together in individuals who consumed the most alcohol, but not in non-alcoholics. This discovery could lead to better screenings and treatments for alcoholism.
Researchers identify nine genes involved in making cucurbitacin, a compound with anti-cancer and diabetes properties. Domestication tweaked cucumber genetics to make fruit more edible, but the same compounds have potential therapeutic applications.
Researchers from UC San Francisco discovered a protein called PDGFD that is made in growing human brains but not in mice, driving brain cell growth. The protein's presence may have played an evolutionary role in the huge increase in cortical size in mammals leading to humans.
Researchers found eight genome regions that contributed to tameness and aggression, including genes involved in nervous system development. The study sheds light on the genetic basis of domestication and its impact on animal behavior.
A groundbreaking study has identified over two dozen high-confidence autism genes, shedding light on the disorder's genetic architecture. The research also reveals a difference in genetic basis between 'higher-IQ' and 'lower-IQ' autism, with implications for early interventions.
Researchers have identified 107 genes that contribute to the risk for autism spectrum disorder (ASD), highlighting three key pathways: synaptic function, chromatin remodeling, and transcription. These findings provide a better understanding of genetic and cellular changes in ASD and may eventually lead to potential therapies.
Joint Bioenergy Institute researchers improve isopentenol tolerance and production in E.coli, a key step towards cost-effective microbial biofuel production. The study identifies two genes, MetR and MdlB, that improve isopentenol production by 55% and 12%, respectively.
Researchers identified the TUBA4A gene as associated with familial amyotrophic lateral sclerosis (ALS), a fatal neurological disorder. The mutated protein weakens the microtubule network, leading to motor neuron death and paralysis.
Researchers have identified a novel gene, MGST3, that regulates hippocampus size in both mice and humans, linked to neurodegenerative diseases like Alzheimer's. The discovery provides another biomarker for identifying those at greatest risk of developing the condition.
Researchers identified a set of genes that can be used to naturally boost the provitamin A content of corn kernels, enabling biofortified orange corn production. This could help combat vitamin A deficiency in developing countries and macular degeneration in the elderly, with potential applications for farmers in Sub-Saharan Africa.
Researchers have uncovered how pacemaker neurons are synchronized at dusk and dawn to maintain proper functioning of biological clocks. This understanding enhances knowledge of sleep-wake cycle regulation and offers promise for addressing related afflictions.
Researchers are using multiparental populations to map complex trait genes in organisms such as mice, fruit flies, and maize. This approach enables the identification of specific gene regions associated with traits like nicotine resistance and toxicity of chemotherapy drugs.
Researchers found that the human version of the Foxp2 gene helps transform new experiences into routine procedures, enabling faster learning and better habit formation. The gene's protein, a transcription factor, regulates synaptic connections between neurons, allowing for more efficient learning and language acquisition.
Scientists have discovered genes in zebrafish that may be synonymous with human airway genes, which could lead to new treatments for Primary Ciliary Dyskinesia (PCD) and other respiratory diseases. The study identified hundreds of novel genes associated with cilia formation, shedding light on the causes of defective motile cilia.
Researchers have discovered a pathological process that affects both mice and humans with type 2 diabetes. By analyzing genome, phenome, proteome, and metabolome data, they identified a specific gene on chromosome 2 that plays a crucial role in the development of the disease.
A recent study identifies rare variants in the APOB gene in families with exceptional longevity, highlighting its potential role in lipid transport and cholesterol metabolism. The findings suggest that genetic factors influencing lipid metabolism may contribute to human longevity.
A team of researchers has identified 46 genes in Escherichia coli necessary for its survival at high levels of radiation, including DNA repair pathways. The discovery reveals potential new ways to protect humans from cancer and improve our understanding of ionizing radiation effects.
A clinical trial found that high-dose fluticasone induced remission in 65% of patients with eosinophilic esophagitis, while 25% remained resistant to steroid treatment. Gene expression analysis identified a cluster of genes associated with steroid responsiveness.
UCLA's David Geffen School of Medicine has received a $7.2 million NIH grant to tackle rare genetic disorders through comprehensive bedside-to-bench clinical research. The program aims to provide answers to patients living with undiagnosed diseases by analyzing patients' genomes and identifying environmental factors that lead to disease.
A genetic discovery identifies the VIR gene responsible for fruit color change, allowing for more efficient harvesting and increased oil yield. The VIR gene offers a reliable visual cue for oil palm fruit ripeness, paving the way to boost productivity and conserve sensitive wild habitats.
Scientists have identified a master regulator in poplar trees that controls the timing of bud break, which could lead to breeding plants better adapted for warmer climates. The discovery enables the engineering of adaptability into trees, potentially improving their ability to cope with changing environmental conditions.
The common bean genome sequence reveals genes involved in critical traits such as size, flavor, and disease resistance. Identifying these genes will help researchers develop more nutritious and climate-resilient bean varieties.
A nationwide study, led by the Children's Hospital of Eastern Ontario Research Institute, has solved 146 rare disorders and identified 67 novel genes associated with rare diseases. The research team used exome sequencing to identify common biological pathways across multiple rare disorders.
Researchers at Johns Hopkins Medicine have cataloged over 17,000 human proteins from 30 different tissues, identifying 193 novel proteins not previously known to exist. This comprehensive dataset provides a solid foundation for speeding up biological research and diagnostic development.
Researchers at Karolinska Institutet identified the EBF1 gene driving unhealthy adipose tissue development, associated with increased risk of insulin resistance and type 2 diabetes. The study found that individuals with large fat cells had lower EBF1 expression, altered lipid mobilization, and insulin resistance.
A study found a fat-storage gene mutation that interferes with key enzyme in lipid metabolism, increasing diabetes risk. The mutation affects 5.1% of the Old Order Amish study participants, with four individuals having two copies of the mutation.
Two new genes, FOXM1 and CENPF, linked to more aggressive prostate cancer have been discovered. A new approach in the treatment of these patients is being developed using computer algorithms and biomarkers.
Researchers developed a new gene expression analysis approach to identify cancer-associated genes from microarray data, outperforming traditional methods. The variance-based approach identified high variation in adjacent 'normal' tissue samples and preferentially selected genes specifically associated with cancer.
A study has identified a dozen genetic mutations involved in changes to complete blood counts and the onset of severe biological disorders. The research used DNA from 6,796 people and found mutations in genes related to red and white blood cells and platelets.
A new software tool, Phevor, has been developed to identify disease-causing gene mutations in undiagnosed illnesses by analyzing exomes of individual patients and small families. The tool has successfully identified diseases with unknown gene mutations in three separate cases.
A study found that certain genes, such as DRD1 and COMT, are associated with low, moderate, or high pain perception. The discovery may lead to new therapies and better understanding of chronic pain.
Scientists from Indiana University have described the transcriptome of the fruit fly Drosophila melanogaster in unprecedented detail, revealing a far more complex genome than previously suspected. The study identifies thousands of new genes, transcripts, and proteins, shedding light on human biology and disease.
A study by Michigan State University researchers used rats and vanilla frosting to identify genetic factors contributing to binge eating. The Sprague-Dawley rat strain was found to be prone to binge eating, narrowing the scope of possible genes involved in the disorder.
A study published in PLOS Genetics reveals that nearly 100 genes may explain the lower cancer incidence rate in patients with central nervous system diseases. Researchers found that specific genes were inversely activated in both diseases, suggesting a protective effect against cancer.
Researchers have identified a rare genetic disorder that causes sporadic fevers, skin rashes, and recurring strokes in early childhood. The syndrome is caused by variants in the CECR1 gene, which impede production of a protein vital to healthy blood vessel walls.
Researchers found that changes in a receptor protein called AHR2 may explain how killifish evolved genetic resistance to PCBs. The study suggests that evolution of resistance converges on the same target gene across independent populations.
Researchers analyzed genetic variation in the X chromosome to understand individual differences in traits such as height, BMI, and blood pressure. They identified a genetic variant near ITM2A that affects cartilage development and is more prevalent among shorter individuals, with stronger effects on women.
Researchers at USC identify a gene that delays aging effects depending on dietary intake, suggesting a genetic basis for individual nutritional needs. This breakthrough may lead to tailored diets based on an individual's genetic makeup, potentially enhancing overall health and longevity.
A study of over 57,000 people identified five new genes associated with increased waist-to-hip ratio, a precursor to diseases like cardiovascular disease and type 2 diabetes. The research found that one gene, SHC1, is linked to abdominal fat and may play a role in metabolic imbalance.
Researchers discovered that six autoimmune diseases arise from DNA changes located outside genes. Multiple genetic switches controlling gene expression are affected in each disease, leading to incorrect gene expression. The study provides a new model for understanding the genetic causes of common complex diseases.
Researchers identified a gene called Cyfip2 involved in the response to cocaine by comparing closely related mouse strains. The study suggests a potential link between this gene and human cocaine addiction, although further research is needed.
A genetic mutation in ADCK4 has been identified as a cause of steroid-resistant nephritic syndrome. Patients with this mutation show reduced CoQ1 levels and decreased mitochondrial respiration. Treatment with CoQ10 may improve outcomes for affected individuals.
A new sequencing method identified a set of genes used by microglia to sense their environment, called the 'sensome'. As aging increases, microglia's expression of neuroprotective genes becomes more active while toxic actions are downregulated. This discovery may lead to better understanding and treatments for neurodegenerative disorders.
A new nomenclature for genetic sequences addresses taxonomic determination issues by providing a reliability ranking. The GenSeq system ranks sequence data from primary types, secondary types, and non-types, enhancing integration of molecular phylogenetics and biological taxonomy.
The I-GAP consortium has identified 11 new regions of the genome involved in Alzheimer's disease, providing insights into its molecular mechanisms. These findings confirm biological pathways and immune response involvement, opening avenues to understanding the causes of AD.
Scientists at the University of Washington have identified a population of neurons in the brain that tell the brain to shut off appetite. In mouse trials, activation of these neurons led to immediate loss of appetite and reduced food intake.
Scientists at Albert Einstein College of Medicine have identified a previously unstudied gene crucial for normal nerve development. The gene, mnr-1, produces an extracellular protein that triggers branching of dendrites in sensory nerves during development.
A McGill University team has identified a key gene that regulates how wheat responds to excess rainfall and humidity, potentially preventing the loss of $1 billion annually. This discovery in epigenetic factors may also improve yields and quality of other cereals like barley.
Researchers developed an in silico nano-dissection method to isolate and identify genes from specific cell types in human tissues. The technique successfully identified genes expressed in podocytes, which malfunction in kidney disease, correlating with the severity of impairment.
Researchers have pinpointed a specific gene responsible for Prader-Willi syndrome, an imprinted disease affecting muscle tone, feeding difficulties, and intellectual disability. The study identified mutations in the MAGEL2 gene, which was found in three additional patients with similar symptoms.
Researchers at Caltech have identified a previously unknown bacterium in the termite gut that may be responsible for most acetogenesis. The bacterium, part of the deltaproteobacteria group, attaches to the surface of a hydrogen-producing protozoan, providing a new understanding of the complex food web in the termite gut.
A study has identified 114 genes on the X chromosome that have escaped silencing, including 76 previously unknown. These genes are often associated with mental impairment and may hold clues to better management of XXX syndrome.
A recent study has identified a rare gene mutation linked to age-related macular degeneration (AMD), the leading cause of blindness in Americans over 50. The C3 gene variant contributes to AMD risk by interfering with the complement pathway's normal function.
Researchers at the University of Edinburgh have found a link between cold sore susceptibility and a mutated gene, revealing why some people are more prone to the virus that causes them. The study identifies IL28b as the affected gene, which plays a crucial role in mounting an immune response against the herpes simplex virus.
Kashin-Beck disease (KBD) and Keshan disease (KD) are major endemic diseases in China, with significant alterations in chondrocyte phenotype, necrosis, and apoptosis in KBD. The study identified 16 genes showing differential expression in both diseases, including nine with synchronous and seven with asynchronous expression.
A recent University of Eastern Finland study found that individuals whose expression of certain genes was not altered by vitamin D supplementation may already have a sufficient level of serum vitamin D or be disturbed in their vitamin D utilization. The researchers believe this approach can help identify potential beneficiaries of long...