Articles tagged with Gene Identification
A study published in the Journal of Clinical Endocrinology and Metabolism has linked six genetic base substitutions to absorptive hypercalciuria, a condition that causes about 45% of all kidney stones. The presence of these base substitutions increases the risk of bone loss and osteoporosis.
Researchers at UT Southwestern Medical Center have identified a critical gene, Bop, that controls the formation of heart chambers. The study found that deleting this gene in mouse embryos disrupted heart muscle cell maturation and right ventricle development.
Researchers have discovered at least 100 genes that show significant differences in activity between non-invasive ductal carcinoma in situ (DCIS) and invasive breast cancer (IBC). The study's findings suggest that defects in these genes may play a role in the progression from non-invasive to invasive cancer.
Researchers have identified a key gene that increases the risk for drug abuse, affecting not only alcohol but also nicotine. The 'AA' configuration of the mu-opioid gene was found in nearly 90% of individuals with substance abuse issues.
Researchers from Women's and Children's Hospital, Adelaide have identified a major gene responsible for both intellectual disability and epilepsy. The new gene is found on the X-chromosome and acts as a master gene controlling other genes' function, contributing to normal brain cognitive function.
Researchers discovered the CASQ2 gene mutation responsible for PVT (Pericardial Ventricular Dysfunction), a fatal heart condition. The study found that the mutation impairs calcium ion release, leading to heart failure.
A three-year study using Arabidopsis thaliana aims to define the roles of protein-degrading enzymes important to wood formation. The researchers hope to identify genes that regulate this process, which could have significant implications for forest product development and our understanding of plant development.
Scientists have identified the PKHD1 gene as the cause of autosomal recessive polycystic kidney disease (ARPKD), a life-threatening genetic disorder. The discovery provides a genetic roadmap for understanding how the disease progresses, paving the way for more accurate diagnoses and treatments.
Researchers at Mayo Clinic have identified the gene causing an inherited form of childhood kidney disease associated with renal failure and neonatal death. The discovery may improve prospects for gene testing and diagnosis of this life-threatening disease in young children, which affects one in 20,000 Americans.
Researchers have identified a gene called LGI1 associated with a rare type of epilepsy characterized by auditory hallucinations and other symptoms. The discovery provides new insights into the cause of common epilepsy.
A researcher at Medical College of Georgia has identified three genetic flaws on chromosomes in patients with the most common type of Alzheimer's disease. Dr. Poduslo's study suggests that late-onset Alzheimer's is linked to multiple genes and may be subdivided into specific categories, leading to improved diagnosis and treatment options.
Researchers use microarray technology to identify genes involved in DNA repair and other cellular processes in yeast. The method allows for rapid identification of gene functions, accelerating efforts to understand the role of genes in various biological processes.
A large-scale study has identified genetic links to schizophrenia in European-American and African-American families. The research found a positive association between chromosome 15 and schizophrenia in European-Americans, but no such link in African-Americans.
Researchers at Harvard Medical School have identified nearly all the genes responsible for vision in mice, which could lead to new methods for preserving and restoring vision. The discovery provides a genetic data base that can help identify genes mutated in inherited diseases such as retinitis pigmentosa and cone-rod dystrophy.
A team of researchers has identified a novel gene, Lpp1, that is mutated in mice with severe spina bifida. This discovery provides new insights into the genetic basis of the condition and may lead to the development of new therapies to prevent it.
Researchers at Emory University Health Sciences Center have identified specific genes in the brain associated with Fragile X Syndrome, a genetic disorder causing mental retardation and related problems. The study used DNA microarray technology to discover 251 dysregulated mRNAs in cells from patients with fragile X syndrome.
Researchers have discovered a key link between cardiac gene mutations and Sudden Infant Death Syndrome (SIDS), potentially leading to earlier identification of at-risk infants. The study found two cases with SCN5A gene mutations, paving the way for further research into other causes of SIDS.
Researchers believe that identifying specific genetic mutations could create more effective genotype profiles to determine individual risk of breast cancer. These profiles may be more accurate than current established clinical risk factors, which only predict but not identify high-risk individuals.
A second gene mutation for the inherited form of ALS has been discovered by Northwestern University researcher Teepu Siddique. The newly identified gene, alsin, is responsible for juvenile inherited ALS (ALS2), a rare and slowly progressive disease affecting young populations in North Africa and the Middle East.
A team of researchers led by Louis J. Ptacek identified a novel gene, mass1, responsible for audiogenic reflex epilepsy in the Frings mouse strain. The gene was found to be mutated in mice with spontaneous seizures triggered by loud noises.
Research studies found that low MBL concentrations are associated with prolonged fever and infection in cancer patients undergoing chemotherapy. MBL infusions may represent a new therapeutic approach to reduce illness and death for these patients.
Researchers found a connection between a specific gene variation and recurrent miscarriages, with women carrying the variation having a 1.6-fold increased risk of pregnancy loss. The study suggests that nitric oxide plays a mediating role in early pregnancy and may be linked to impaired placental function.
Researchers used SAGE technique to identify 2016 genes active exclusively in dauer, a non-reproductive, long-lived form of C. elegans. Chromosome stability and structure are linked to dauer biology, with tts-1 gene playing a crucial role.
The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) has established a national family registry for scleroderma research. The registry will study families with one or multiple cases of the disease to identify genetic factors, environmental triggers, and susceptibility genes.
Scientists successfully transform human mammary epithelial cells into breast cancer cells by introducing three cancer-associated genes, revealing key mechanisms underlying tumorigenesis. The study also highlights the importance of cross-talk between cancer cells and their microenvironment in metastasis.
Research examines 117 twins and finds that genetics account for 48-59% of periodontal disease differences. The study suggests identifying people at high risk before symptoms appear may lead to new treatment avenues.
Researchers have identified a region on rat chromosome 4 containing genes strongly affecting emotionality-related behavior, which only affects female rats. This discovery may provide insights into the biological mechanisms underlying emotional disorders in women.
A team of researchers from the University of Cincinnati and other institutions has identified the first gene responsible for age-related hearing loss in mice. The Ahl gene is located on mouse Chromosome 10 and appears to be a single, recessive trait that causes significant hearing losses in older mice.
Researchers at Ohio University develop a faster gene function identification system using a nonviral gene expression system in zebrafish, reducing identification time from three years to two days. The technique allows scientists to study gene function without destroying the gene, making it valuable for studying genetic disease.
Researchers successfully cloned the Clock gene, a key regulator of circadian rhythms in mammals. The gene's identification provides insight into the molecular mechanisms underlying circadian rhythm entrainment and expression, potentially leading to new treatments for sleep disorders and jet lag-related issues.
The study identifies mutations of P-TEN in advanced brain, breast, and prostate cancers, suggesting a new potential target for cancer treatment. The discovery represents one of the first genes implicated in aggressive brain tumors.
The joint venture aims to improve the ability to diagnose, control, and cure cancers by identifying gene defects and relating them to treatment responses. Memorial Sloan-Kettering's retrospective database and Sequana's gene discovery platform will be combined to achieve this goal.