Articles tagged with Gene Identification
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.
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.
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.
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...
Harvard scientists have identified a pair of genes that allow certain gut bacteria to break down a widely prescribed cardiac drug into an inactive compound. The researchers found that these genes are expressed when the bacteria are exposed to the drug, and that they play a key role in converting the drug into its inactive form.
Scientists have mapped the genomes of two oil palm species and identified a critical gene for yield improvement. The discovery has implications for enhancing sustainable palm oil production while reducing pressure on wild rainforests, which account for nearly half of global edible vegetable oil.
Researchers identified a gene mutation in dogs that is associated with neural tube defects in humans. The study found six cases of the mutation in human patients with spina bifida, suggesting a potential link between the dog gene and human neural tube defects.
A large new resource of mouse lines has been created to study human diseases, revealing new functions for well-known genes and unexpected associations with traits like body weight. The project provides a wealth of freely available clinical and biological information to aid in the development of new therapies.
A collaborative effort by Autism Speaks has found full genome sequencing examining the entire DNA code of individuals with autism spectrum disorder (ASD) and their family members. The study identified genetic variations associated with risk for ASD, including de novo, X-linked, and inherited DNA lesions in four new genes.
Researchers at Kansas State University have identified a key component of plants' immune system that recognizes and fights the invasive Ug99 stem rust pathogen. The discovery of the Sr35 gene provides hope for developing new wheat varieties to protect global food crops against this devastating disease.
Two independent studies identified SIM1 mutations in obese patients, revealing a strong link between SIM1 dysfunction and severe obesity. Reduced SIM1 function was associated with increased food intake, altered nervous system dysfunctions, and Prader-Willi-like features.
Researchers have identified the TTC7A gene as the cause of multiple intestinal atresia (MIA), a rare and life-threatening condition. The discovery will enable the development of prenatal diagnostic tests for pregnant women and screening tests for carriers, offering new hope for affected families.
Researchers discovered a new gene associated with congenital heart disease, specifically atrial septal defect (ASD), which may help improve genetic counselling and understanding of normal development. The study involved over 2,000 patients and found a strong association between the Msx1 gene and risk of ASD.
Researchers identified two genes responsible for flowering in a tropical tree species. The genes, SbFT and SbSVP, show dramatic changes before flowering after a four-week drought period. This discovery may help predict mass flowering events, aiding conservation efforts.
A genome-wide lethality screen using RNA interference technology identified 239 gene candidates essential for cell survival. The researchers developed a high-stringency analysis method to determine which genes result in cell death when knocked down.
Scientists have identified a human gene, ITGA5, that becomes more active after sleep deprivation, offering a potential new marker for detecting sleep loss. The discovery was made through cross-translational research with fruit flies, which allowed the researchers to identify genes in humans and then test them in flies.
Scientists at UC San Diego discovered eight genes in fruit fly Drosophila that are also involved in wound healing in humans. These genes, which regulate biological processes in the fly's exoskeleton, may lead to new treatments for skin conditions like psoriasis and diabetic ulcers.
Researchers at WSU will develop climate-resilient wheat varieties to tackle rising temperatures and limited water in growing regions. The project aims to identify genes associated with heat tolerance, benefiting all wheat-growing regions worldwide.
A large-scale study identified seven new gene loci linked to obesity, showing a significant overlap with genetic mechanisms causing milder forms of overweight. The research included over 260,000 participants and demonstrated that extreme obesity shares similar genetic factors as normal or slightly elevated BMI.
Researchers have created a numeric model of the chromosome that supports experimental data and provides a hypothesis on the bundle's function. The model identifies regions with specific genes, contradicting the chaotic view of the chromosome as a randomly entangled thread.
Scientists at MBL have identified several genes linked to human neurological disorders, including Alzheimer's disease and Parkinson's disease, in the sea lamprey genome. The discovery will accelerate research on spinal cord injury recovery, as lampreys can regenerate their nervous system after injury.
Researchers have identified a microRNA liver gene, miR-27b, which regulates lipid (cholesterol or fat) levels in the blood. The study found that miR-27b is sensitive to high triglycerides and is involved in lipid metabolism.
Researchers at ORNL have solved the mystery of how bacteria convert mercury into methylmercury, a far more toxic form. The team identified two genes, hgcA and hgcB, responsible for this conversion process, which has significant implications for protecting human health.
A Johns Hopkins study identified a rare gene mutation in a single family with a high rate of schizophrenia, suggesting that abnormal genes play a role in the disease. The researchers found that the mutated gene led to abnormal activity and brain cell abnormalities.
Researchers identify nearly 50 individuals with publicly available genetic data, highlighting potential breaches of privacy in genomics studies. The study's findings emphasize the need for better security algorithms and policy guidelines to mitigate risks associated with sharing genetic information.
Researchers identified 24 new copy number variants with strong links to autism, providing potential genetic diagnosis for up to 10-12% of children with ASD. The study validates the genetic markers used in a commercial test, advancing early detection and treatment methods.
Researchers at UCL have identified over 200 gene locations linked to Crohn's Disease, a complex condition with a significant genetic component. The study uses a new method to analyze the human genome and provides evidence that specific clinical sub-groups may carry different risk genes.
Researchers used RNA interference technology to identify hundreds of molecular targets linked to HD toxicity, including RRAS signaling as a pathologic feature. The study provides a roadmap for discovering new therapies and offers hope for treating the devastating disease.
Researchers identified a common gene variant that influences the circadian clock, affecting people's sleep-wake patterns and even predicting their mortality time. The variant affects approximately an hour of daily rhythm, with those having the AA or AG genotype dying earlier in the day.
Scientists have discovered a new method for identifying genes in animals, which could increase genetic information by 70-80%. This technique allows for direct observation of genes and proteins, enabling more efficient study of animal diseases and viruses.
Researchers at NYU have uncovered the electrical activity of biological clock neurons that help regulate behavioral rhythms. The study highlights the importance of understanding the coordination between neuronal firing and gene expression to develop new pathways for treating sleep disorders.
A novel gene CIB2 has been associated with Usher syndrome, a devastating genetic disorder that affects both hearing and vision. The discovery provides new insights into the disease's progression and may lead to future therapeutic targets.
A new study has identified genetic origins of aortic valve disease affecting 10% of cases, shedding light on hereditary component and progression of the disease. The research found rare genetic variants linked to severe health effects and disease processes, with many affected patients carrying multiple variants.
Researchers at New York University have discovered how the biological clock drives daily rhythms in pacemaker neurons. The study found that a specific gene, Ir, plays a crucial role in linking the biological clock to neuronal activity.
Researchers have identified a new gene, Wnt16, linked to bone density and cortical bone thickness, which can predict fracture risk. The discovery opens up opportunities for developing new medicines to prevent common fractures.
A new gene has been discovered that can help make domestic tomatoes more resistant to pests, a trait shared by their wild cousins. The research, published in the Proceedings of the National Academy of Sciences, identifies a gene involved in producing acyl sugars that fend off bugs.
Research by VIB/KU Leuven scientists identifies HUWE1 as the culprit behind intellectual disability in some patients, a condition affecting approximately 15% of cases. The study's findings open up possibilities for detecting and treating X-linked intellectual disabilities through targeted tests and further research.
A study published in Genome Medicine identified genes whose activity is altered with increasing lung damage. The compound Gly-His-Lys (GHK) was found to affect the activity of these genes and restore normal gene activity, repairing cell function in human cells from lungs damaged by emphysema.
Researchers at UMass Chan Medical School have discovered a gene that influences survival time in amyotrophic lateral sclerosis (ALS). The study found that blocking the activity of EphA4 receptor substantially extends the lifespan of people with the disease. Additionally, a new ALS gene (profilin-1) identified last month works in conjun...
Researchers at the University of Montreal have identified a genetic cause for Essential Tremor (ET), a common movement disorder characterized by involuntary shaking. The study's findings provide new insights into the disease mechanism and may lead to improved diagnosis and treatment options for affected individuals.
A team of international scientists has identified the new gene responsible for Leber Congenital Amaurosis (LCA), a devastating genetic form of blindness in newborns. NMNAT1 is crucial for life and produces a vital coenzyme called NAD, involved in hundreds of reactions in the cell.
A new technique links agronomic traits in crops with active genomic regions, identifying expressed genes. This allows plant breeders to develop markers based on these genes, accelerating breeding through marker-assisted selection.
A Canadian Mennonite family of Dutch-German-Russian ancestry has contributed to the identification of the DNAJC13 gene associated with late-onset Lewy body Parkinson's disease, according to UBC researchers. The study provides new insights into the genetic aspects of PD and offers hope for effective treatments and a cure.
Researchers identified a mechanism related to RNAi that scans for intruders by comparing foreign sequences to a memory of previously expressed native RNA, creating an 'epigenetic memory' that silences the gene. This memory can be passed on from one generation to the next.
Researchers at MIT used zebrafish to study genes associated with autism, finding that nearly all produced brain abnormalities when deleted. The study identified two key genes, kif22 and aldolase a, which may contribute to the development of neurological disorders.
Researchers have identified a novel candidate gene, SEL1L, in Finnish Hound dogs with early-onset progressive cerebellar degeneration. The study reveals a single nucleotide change in the SEL1L gene causing an amino acid change and endoplasmic reticulum stress.
Researchers at UMass Chan Medical School have identified the first gene, dSarm/Sarm1, responsible for promoting axon destruction after injury. The discovery provides a new therapeutic target to delay or stop axon decay in neurodegenerative diseases.
The MetLife Foundation Awards for Medical Research in Alzheimer's Disease recognize novel approaches to understanding and treating the disease. The winners, Dr. Clifford Jack Jr., Dr. Christine Van Broeckhoven, and Dr. Randall Bateman, have made significant discoveries that clarify our understanding of Alzheimer's disease.
Researchers identified C5ORF42 as the gene causing Joubert Syndrome in French Canadian families in the Lower St. Lawrence region of Quebec. The study, published in The American Journal of Human Genetics, provides a genetic basis for the syndrome and allows family members to assess their children's genetic risks with a simple DNA test.
Research identifies specific genetic mechanism underlying autism and fragile X syndrome, suggesting gene dosage disruption as key factor in autism development. The study found a strong overlap between autism candidate genes and those linked to fragile X syndrome, with implications for therapy and diagnosis.
Two distinguishable gene groups have been detected: one producing abundant biochemical products and functioning properly in most biological processes, and another with potentially abnormal function in diseases. The findings have significant implications for tailoring therapy to individual patients
Scientists have identified bimodal genes acting as molecular switches in ovarian cancer, providing potential targets for clinical prognostic and diagnostic testing. These gene expressions are associated with different tumor subtypes and patient survival outcomes.
A new population of lab mice developed by Tel Aviv University offers 1,000 genetic strains for research into human diseases. This increase in genetic diversity enables researchers to identify gene associations within two to three years, compared to the previous 10-15 year timeframe.
A DNA sequencing consortium has identified patterns of mutations in autism, highlighting hundreds of genes and pinpointing two specific genes as strong risk factors. The study found that de novo point mutations play a role in the development of autism, with some genes more connected to each other than expected.
Researchers have discovered multiple genes associated with meconium ileus, a severe intestinal obstruction present at birth in CF patients. This finding suggests the possibility of personalized approaches to treatment and novel therapeutic targets for individuals with cystic fibrosis.
A new epilepsy gene has been discovered in dogs, specifically in Belgian Shepherds, which is associated with a seven-fold increased risk of epilepsy. The research also suggests that other genetic risk factors may be present in the breed, and ongoing studies aim to identify the specific gene causing epilepsy.
Researchers have identified two new genes associated with Baraitser-Winter syndrome, a rare brain malformation characterized by droopy eyelids and intellectual disabilities. The study reveals the defects occur in actin genes critical for cell division and movement.