Articles tagged with Gene Identification
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A team of researchers from UNIGE and Beihang University has identified the FOXI3 gene as responsible for one form of Goldenhar syndrome, a rare congenital disorder. Pathogenic variants in both copies of the FOXI3 gene are necessary for the disease to develop, following an autosomal recessive inheritance pattern.
A new study from Duke University identifies 1,500 genes essential for invasive cell behavior in C. elegans worms. The researchers created a 'parts list' of these genes and proteins, which may help identify effective ways to stop cancer's spread.
Researchers at UMass Amherst microbiologists have identified an enzyme involved in TB pathogen's survival and growth. The discovery offers a potential target for drug therapies for the deadly disease, which has few effective treatments and caused over 1.6 million deaths worldwide in 2021.
Researchers at Washington State University have identified the Arrdc5 gene as a potential target for male contraception. The study found that when this gene is inactivated, it causes significant infertility in males, characterized by decreased sperm count, slowed mobility, and distorted shape.
A new American Heart Association scientific statement provides guidance on interpreting incidental genetic variants associated with cardiovascular disease risk. The statement aims to determine whether a variant truly carries a health risk and suggests next steps for individuals and healthcare professionals.
Researchers developed O-ClickFC technology to analyze lipid metabolic state in cells at high speed. The technology combined with genome editing enabled identification of causative genes of metabolic disorders, including FLVCR1 and its role in choline uptake.
A new platform allows researchers to study cell-cell interactions in inflammatory neurological diseases like multiple sclerosis (MS). By identifying genes that control biologic processes, the team hopes to develop therapeutics to change disease-promoting cell behavior.
A novel rare mutation in the ABCA12 gene was identified as a cause of Harlequin Ichthyosis through BGI genetic tests. The mutation leads to a severely dysfunctional protein responsible for the disease's serious phenotype.
Researchers at Rutgers University used artificial intelligence to analyze genes associated with cardiovascular disease, identifying key factors such as age, gender, and race. The study aims to accelerate early diagnosis and treatment of conditions like atrial fibrillation and heart failure.
Researchers have identified three novel pathogenic variants of the ATR gene as predisposing to male breast cancer. These variants were found in a cohort of individuals with early onset and familial breast cancers, using a combination of exome sequencing and functional investigations. The study suggests that extended genetic analysis ca...
A recent study published in the Journal of Clinical Investigation found that PAX5 is strongly associated with impaired insulin secretion in type 2 diabetes. The research team identified 94 previously known genes and discovered many new genes differently expressed in individuals with type 2 diabetes.
Researchers at NIH's National Human Genome Research Institute identified a gene, KTD1, that provides resistance to the K28 toxin in yeast. This discovery sheds light on the molecular mechanisms underlying toxin resistance and has implications for understanding human toxin resistance.
A team of researchers from the University of Minnesota Medical School identified approximately 100 genes associated with fat deposition in women. One gene, SNX10, was found to be strongly associated with cholesterol and triglycerides, which has implications for cardiovascular health.
Researchers used AgRenSeq genomic discovery method to identify two genes protecting experimental wheat plants against wheat blast. The study highlights the power of heritage wheat varieties and wild grass relatives in providing disease-fighting diversity.
Researchers at The Wistar Institute have discovered a gene signature that accurately predicts the functioning of P53 variants, enabling better assessment of cancer risk and optimizing treatment choices. This breakthrough knowledge could be used to screen individuals with genetic variants of P53 and inform them about their cancer risk.
Researchers at McGill University have identified a crucial gene (tfec) controlling reptile pigmentation and specifically the classic piebald trait. By combining whole-genome sequencing, gene-editing, and electron microscopy, they found that this mutation affects color-producing cells in reptiles.
Scientists have identified genes that play key roles in the development of coronary artery disease (CAD), a leading cause of death worldwide. The study found notable differences in gene activity between males and females, as well as between cells that were multiplying and those that were not.
The FinnGen study has identified over 2,500 genomic regions linked to at least one disease, including previously unknown risk factors for common and rare diseases. The research highlights the power of Finland's unique genetic landscape and population history in driving novel discoveries.
Researchers found that abnormal methylation processes lead to disruption of gene expression essential for brain development in people with Williams syndrome. The study suggests targeting treatments to correct these disruptions.
Researchers at HKUMed have established a baseline for gene expression profiles of amniotic fluid cells using RNA-sequencing, providing potential clinical utility for prenatal diagnosis. The study identified outliers in genes associated with structural congenital anomalies, offering new evidence for diagnosis.
A team of scientists identified 155 new genes that spontaneously arose from tiny sections of the human DNA, some associated with growth defects, muscular dystrophy, and other diseases. These 'microgenes' also play a role in maintaining healthy heart tissue.
An international research team has identified a critical set of genes linked to successful racehorses, which play a significant role in muscle, metabolism, and neurobiology. These genes were found to be common to all racing breeds and differ from non-racing breeds.
Researchers have identified three new genes, SHMT1, FAM120B, and ICA1L, and their expressed proteins that may be involved in the development of multiple sclerosis. The study provides new insights into the mechanisms underlying the disease and prioritizes promising targets for future therapy research.
Researchers at KAUST have discovered a key protein that acts as a master switch for plant immunity, suggesting a simpler way to develop more resilient crops. The protein, OXI1, triggers the production of immune-promoting molecules, but its overactivity can harm plants.
A recent study reveals that the SD6/ICE2 molecular module regulates seed dormancy in rice, controlling abscisic acid homeostasis. By editing this gene, researchers improved pre-harvest sprouting resistance in both rice and wheat, offering a promising strategy for improving crop yields.
A study by researchers at Boyce Thompson Institute has identified genes that can help plant breeders develop fruit crops that can adapt to drought conditions. The research found that water stress triggers physiological disorders and fruit loss, but also has positive effects such as increasing lycopene levels in ripe fruit.
Researchers identified SHROOM4 gene's role in human embryonic development and its link to congenital malformations. The study found that altering the gene can cause various organ system malformations.
A new study published in Molecular Psychiatry suggests that parental discord and divorce may be indicators of children's genetic risk for future alcohol misuse. Researchers found that exposure to parents' relationship discord or divorce is associated with increased risk of alcohol use disorder symptoms in adulthood.
Researchers from North Carolina State University have developed a new method for identifying genes relevant to the aging process in the C. elegans roundworm model. By exposing thousands of worms to random genetic mutations, they can pinpoint which genes are associated with protein aggregation and reduced lifespan.
Researchers at Nagoya University identified the pheromone PGE2 involved in puffer fish spawning behavior, which is synchronized with the lunar cycle. The study found that applying PGE2 to puffer fish triggers their characteristic writhing motion during spawning.
Researchers at Mount Sinai's Tisch Cancer Institute have discovered a new gene, PDZK1IP1, essential to colon cancer growth. The study found that surrounding inflammation activates the super enhancer, promoting tumor cell survival and growth.
Researchers have found evidence of genetic diversity in the prion protein gene of endangered Eld's deer, which could provide resistance to chronic wasting disease. The study suggests reducing the frequency of a variant associated with the disease and implementing strict management practices to prevent exposure.
Researchers are recruiting over 1500 UK participants to study the genetic basis of stammering. The largest study of its kind hopes to identify genes linked to the condition and develop new therapies targeting the underlying causes.
This study reveals genetic insights into artificial selection and ecological adaptation in silkworms, identifying 468 domestication-associated genes and 198 improvement-associated genes. The pangenome dataset also sheds light on the origins of domesticated silkworms and their economic traits.
The Leducq Foundation has awarded $7.5 million to UVA researchers, led by Mete Civelek, to investigate sex differences in atherosclerosis and $8 million to Coleen McNamara to advance immunotherapy for cardiovascular disease. These projects aim to improve understanding of heart disease and develop new treatments.
A study conducted at the University of Zurich has identified a key gene network responsible for severe tooth enamel defects. The researchers found that mutations in the Adam10 molecule lead to disorganization of ameloblasts and severe defects in both structure and mineral composition of enamel.
Researchers have identified four genes in corn and Arabidopsis that regulate root growth in response to gravity, a trait essential for drought tolerance and efficient water use. The study's approach, leveraging genomic comparisons between distantly related species, has the potential to be applied to other traits.
Researchers at Mayo Clinic Comprehensive Cancer Center have identified a gene marker that may lead to more effective precision treatment for pancreatic ductal adenocarcinoma. The protein METTL16 is correlated with accumulated DNA damage and suppresses DNA repair, suggesting it as a potential biomarker for PARPi treatment.
A mutation in the TMEM163 zinc transporter gene has been definitively linked to hypomyelinating leukodystrophy, a rare and often fatal neurological disorder. The study's findings provide new insights into the role of zinc in normal brain development, injury, and disease.
Researchers from Hiroshima University have identified two types of genes that are upregulated in both rice and thale cress when exposed to oxygen deprivation. The study suggests distinct molecular mechanisms under hypoxia in plants and animals, with potential applications for creating flood-tolerant crops.
Researchers discovered a gene called nervy that helps fruit flies respond to socio-environmental signals to stop fighting. The study's findings have implications for understanding aggression in humans and potentially treating psychiatric disorders like Parkinson's disease.
Breast cancer recurrence and metastatic spread remain a significant challenge, with researchers identifying a metabolic signature that can predict patient outcomes. The signature could be used to develop new therapies targeting cancer metabolism.
A novel method developed by Brazilian researchers can analyze bacterial samples without isolating live bacteria, making it easier to detect antibiotic resistance in Streptococcus pneumoniae. The technique was tested on 873 samples and found that 51% were sensitive to antibiotics, while 17% were resistant.
A new study reveals that the emergence of a new gene called PGBD1 is linked to the evolution of a new structure in nerve cells. PGBD1 controls paraspeckles, tiny structures that act like traps for RNAs and proteins, and its regulation is crucial for nerve cell development.
Researchers have uncovered 60 genes linked to autism spectrum disorder, which may represent a different class of genes associated with core symptoms. The study found that five new genes have a moderate impact on autism characteristics and explain why autism often runs in families.
A new study of over 150,000 participants has identified more than 70 genes strongly associated with autism and over 250 with strong links to the condition. The analysis provides insights into the molecular roots of brain development and neurodiversity.
Scientists have developed Live-seq, an innovative approach that keeps cells alive during RNA extraction for further study. This technique uses FluidFM to manipulate tiny volumes of fluids in a sample under the microscope, allowing for the insertion and extraction of mRNA from single cells without killing them.
A new gene variant, MFGE8, has been discovered that protects against coronary heart disease, with carriers experiencing a one-fifth lower risk. The variant is located in the MFGE8 gene and inhibits the function of lactadherin protein, which affects arterial stiffness.
A newly identified species of Liberibacter, a family of bacteria known for causing citrus greening disease, is rapidly evolving its ability to infect insect hosts. The research team found 21 genes associated with infectious qualities and identified mutations affecting pilus proteins that allow the bacteria to move into host insects.
A new study has identified the genes that become active in carotid arteries when plaque rupture causes a stroke. The researchers sequenced the RNAs in plaques from patients who had experienced a stroke within two to five days, revealing increased inflammation and loss of protective cap.
Researchers have identified a novel gene FIBCD1 as likely causative of rare neurodevelopmental disorders. The study found that FIBCD1 is a receptor for ECM 'sugar' components and linked to diseases such as autism, ADHD, schizophrenia, and Alzheimer's.
Scientists at IRB Barcelona develop a new approach to pinpointing the genes driving clonal hematopoiesis, a biological process linked to ageing and increased risk of blood malignancies. By adapting cancer genomics tools, researchers aim to improve early detection and monitoring of this condition.
A study published in PLOS ONE analyzed the oldest domestic horse specimen from the Americas, revealing a genetic lineage linked to Southern Europe. The findings support the hypothesis that horses originated on the Iberian Peninsula and highlight the importance of ancient DNA in understanding cultural and historical processes.
Researchers used Guardant NGS to analyze nearly 17,000 lung cancer samples and found MET amplification in 1.2% of cases, with 20.8% having overlapping oncogenic drivers. The study suggests that high gene copy numbers and smaller amplified regions can be used to enrich for the true MET-sensitive population.
A new study led by Tokyo University of Science researchers identifies altered gene expression and cell function changes that drive DNA damage and neoplasia in cholangiocytes exposed to 1,2-dichloropropane. The findings highlight the importance of macrophage involvement in carcinogenesis.
Scientists analyzed DNA sequence data from nearly 71,000 people worldwide and identified mutations in ACE2 and TMPRSS2 genes that affect protein expression, influencing COVID-19 susceptibility and severity. The study suggests a potential new diagnostic method based on host cell variation rather than the evolving virus.
A new gene, C18ORF25, has been discovered that promotes muscle strength when activated by physical activity. This finding has significant implications for understanding healthy aging, muscle diseases, and sports science. The research team hopes to develop new treatment options using this knowledge.
Researchers have discovered the genetic basis of natural resistance in cassava to mosaic disease, which is transmitted by whiteflies and causes significant yield losses. The gene, known as CMD2, is a DNA polymerase that corrects errors during replication, making it essential for the virus's survival.
Researchers have created a new DNA atlas that provides insights into how genes in specific cells contribute to coronary artery disease. The atlas identifies over 200 independent genetic markers associated with disease risk, offering a potential roadmap for interpreting non-coding variants.
Researchers have identified a novel chromosomal section that confers resistance to both crown rust and powdery mildew diseases in oats. This breakthrough finding has the potential to improve oat yields and reduce disease susceptibility, benefiting human consumption and livestock production.