Articles tagged with Gene Identification
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A UCLA study found 54 genes produced differently in male and female mouse brains prior to hormonal influence, suggesting genetic influences on sexual differences. The research may help explain why people feel male or female and inform the development of treatments for intersex infants.
The study found 83 genes with higher levels of activity in humans, linked to increased brain activity, while human brains showed increased expression of genes protecting against damage. This discovery may explain why humans have a long lifespan but are vulnerable to neurodegenerative diseases.
Researchers at UCSD identified a novel gene called Nxf1 that restores function to mutated genes by increasing normal product production, alleviating abnormalities in mouse mutations. This discovery offers hope for controlling human disorders caused by retrovirus insertion mutations.
Scientists at Sick Kids have identified a new gene, NHLRC1, that causes Lafora disease, a severe form of adolescent epilepsy. The discovery explains the condition in 90% of families and opens up new avenues for research into both epilepsy and normal brain function.
A study by NIH/NIEHS has identified a mouse gene linked to hydrocephalus, a common birth defect. The research team cloned the defective gene, which affects cerebrospinal fluid drainage, and found it causes classic symptoms of hydrocephalus in mice.
The Salk Institute's latest study, led by Joseph Ecker, provides a detailed map of Arabidopsis genes and their functions. The team has also identified key molecular pathways involved in ethylene gas signaling, which is crucial for plant growth, yield, and drought tolerance.
A UCSF-led team has identified a potential cancer susceptibility gene, the Ile31 variation of the Aurora2 gene, which disrupts cell regulatory controls and increases cancer risk. The study suggests that low penetrance genes can confer significant susceptibility to cancer.
A study has identified three chromosomal regions that appear to hold genes affecting low response to alcohol. This research may lead to a better understanding of how genes contribute to alcohol dependence and help develop new treatments.
A study published in Molecular Psychiatry has identified a sex-specific gene variant associated with an increased risk of developing severe depression in women. Over 80% of women who inherited the CREB1 variant developed depressive disorders, highlighting the importance of considering sex-specific factors in depression research.
Researchers identified nearly 300 asthma signature genes involved in pathogenesis, including arginase, which triggers asthmatic symptoms. The discovery could lead to targeted treatments for individual patients.
Research breakthrough identifies 291 genes associated with asthma, opening up new avenues for treatment and diagnostic development. The study focused on the arginase pathway, which regulates critical processes involved in allergic reactions.
Researchers at The Wistar Institute developed DNA arrays to accurately diagnose Sezary syndrome, a leukemic variant of cutaneous T-cell lymphoma. The technology identified genetic markers that can predict patient survival and identify potential drug targets.
A new method reveals previously unknown control genes in Saccharomyces cerevisiae, enabling insight into the roles of regulatory genes and their targets. The method predicts functions of regulator genes and their targets, shedding light on gene regulation and its implications for cell function and disease.
Researchers found two genes, HTR1D and OPRD1, associated with anorexia nervosa in the 1p33-36 linkage region. These genes regulate behaviors including eating and anxiety, and individuals carrying specific alleles for developing anorexia nervosa are at increased risk.
Researchers identified chromosomal abnormalities in 5.9% of ALS patients, suggesting a previously unknown risk factor for the disease. The study highlights the need for systematic genetic analysis of patients with ALS and other neurodegenerative diseases.
Researchers have identified the Progeria gene, which may lead to answers about natural aging and cardiovascular disease. The discovery gives hope to children with Progeria, who die at an average age of 13 due to complications from accelerated aging.
Researchers identified a new transcriptional regulator of CBF genes, ICE1, which increases cold tolerance in Arabidopsis plants. The discovery is expected to provide a new way to improve the ability of domesticated crops to survive in cold temperatures.
Scientists used RNA interference to identify four new genes involved in passing along Hedgehog's signal in fruit fly cells. The study suggests that human versions of these genes may be involved in diseases characteristic of abnormal Hedgehog activity, including birth defects and cancers.
A study assessing young women with breast cancer in north-west England found that a third had a strong family history of breast cancer and/or ovarian cancer. Women with this history were more likely to carry BRCA1 or BRCA2 gene mutations, emphasizing the need for accurate family history elucidation to predict genetic mutations.
Researchers discovered a new gene mutation that affects L-DOPA production, potentially leading to new treatments for glaucoma. The study found that administering L-DOPA prevented severe abnormalities in mice with a genetic defect similar to primary congenital glaucoma.
Researchers have identified about 400 genes in Caenorhabditis elegans that control fat storage, including many with human counterparts. These genes may hold the key to developing new therapies for obesity and its associated diseases.
An international team of scientists has identified the LRPPRC gene as the cause of Leigh Syndrome, a devastating childhood disease that affects 1 in 2000 live births. The discovery enables carrier testing and prenatal diagnostic options, providing immediate clinical implications for families affected by the disorder.
Scientists have identified the gene responsible for Shwachman-Diamond syndrome, a rare genetic disorder that affects the pancreas, white blood cells, skeletal system, and causes severe infections. The discovery will aid in accurate diagnosis, clinical management, and potentially lead to new therapies.
Researchers studied rapamycin's molecular action and found it blocks tumor-cell growth by triggering stress responses, stopping cell proliferation. The study identified a new type of gene regulation involving the target of rapamycin (TOR) protein.
Scientists have identified a four-stage process to determine gene identity in complex diseases, using methods such as linkage analysis and sequence analysis. This will help establish definitive proof of gene involvement, benefiting research on conditions like Alzheimer's and Type 1 Diabetes.
Researchers have identified two genes responsible for defects in vitamin B12 metabolism, which can lead to accumulation of methylmalonic acid. This breakthrough could enable DNA testing for carriers and early prenatal diagnosis, providing hope for families affected by the disease.
Pittsburgh researchers identify a genetic change in the UMOD gene responsible for two juvenile onset renal diseases, FJHN and MCKD2. The discovery enables testing of clinically unaffected family members, allowing for early intervention and potential prevention of kidney disease progression.
Researchers have identified a vital component in the regulation of the circadian clock, which controls daily behavior such as sleeping and waking. The discovery may lead to the development of drugs that speed up or slow down the circadian clock, potentially treating sleep disorders affecting 70 million Americans.
Researchers have identified a gene called takeout that plays a key role in controlling the sex drive of male fruit flies. Takeout is regulated by sex-specific forms of the master gene regulators DSX and FRU, and its expression in the head is required for normal courtship behavior.
Researchers have developed a new genetic screening method that narrows the pool of candidate genes from thousands to fewer than 100, potentially saving time and money. The technique uses a combination of quantitative trait locus mapping and microarray technology to identify genes with differential expression, which are more likely to b...
Scientists have developed a new genetic screening technique that narrows the pool of candidate genes from thousands to fewer than 100, potentially speeding up the search for genes responsible for inherited traits. The method combines two established techniques and has been tested on fruit flies, with promising results.
The international Type 1 Diabetes Genetics Consortium will collect and analyze genetic data from 2,500 families worldwide to identify genes contributing to the disease. The consortium aims to clarify the complex interaction between genetics and environment in type 1 diabetes.
Penn researchers have identified a key gene, Hop, that plays a vital role in regulating the development of heart cells. By inhibiting the expression of another important regulator, serum response factor (SRF), Hop protects cardiac muscle cells from over-development and fatal abnormalities.
The study identified specific genes regulated by Nrf2 in response to sulforaphane, a compound found in broccoli that can annihilate a broad spectrum of carcinogens. By understanding how this process works, researchers may develop new cancer preventive agents.
Researchers at Princeton University identified a core set of genes responsible for regulating stem cell behavior and unique activities. The study also uncovered over 4,000 genes active in surrounding tissues that influence stem cell behavior.
Researchers found a gene variant associated with abnormal heart rhythm in African Americans, affecting an estimated 4.6 million people. The SCN5A gene variant increases the risk of life-threatening arrhythmias when combined with other factors.
Researchers at UT Southwestern Medical Center have identified a gene, HDAC9, that limits abnormal heart-muscle growth. The study shows that HDAC9 restricts cardiac growth in response to stress but does not affect normal growth during development or exercise.
The Lancet neurology reviews research on migraine genetics, highlighting the challenges of identifying genes involved in the disorder. The article also examines the implications of private diagnostic testing without physician support, sparking debate about its role in advancing treatment options for neurological diseases.
Researchers have found a gene mutation that causes acute megakaryoblastic leukemia in children with Down syndrome, increasing their risk by 10-20 times. The discovery highlights the importance of GATA1, a transcription factor regulating red blood cell and platelet production.
Scientists have identified a gene involved in autoimmune disease using molecular techniques on mouse models. The research aims to develop more specific treatments by understanding the role of histamine receptors in autoimmune disease.
A single gene on the X chromosome, AGTR2, has been linked to mental retardation. The discovery could lead to new therapies and insights into normal brain development.
Researchers at Clemson University have identified a single gene, AGTR2, that may trigger mental retardation in males when it is abnormal. The study found mutations in eight male patients with unexplained mental retardation, offering new insights into the causes of brain development disorders.
A team of researchers has established the first-ever gene profile of the aging human retina, revealing expression changes in genes involved in stress response and energy metabolism. The study's findings may help scientists understand how age predisposes individuals to age-related diseases such as AMD.
Researchers have identified 22 genes essential to the operations of the body's internal clock, which synchronize behavior and physiology with a near 24-hour cycle. The study found that these genes influence the expression of other genes throughout the body, controlling behaviors like sleep and wakefulness.
A study by Duke University Medical Center researcher Haifan Lin discovered that 63 percent of men with the overactive form of the hiwi gene are at risk of developing seminoma, a type of testicular cancer. The hiwi gene is highly correlated to seminoma, and its overexpression can lead to an increased risk of testicular cancer.
Researchers used DNA microarrays to analyze 40% of the fruit fly genome and found that genetic changes are the result of many small contributors. The study's findings suggest that human genetic biases may also be caused by small changes in multiple genes.
Researchers have identified two genes that play a crucial role in sleep function, found in both fruit flies and humans. These genes control the internal clock and protect against stress, highlighting the importance of sleep in maintaining overall health.
Researchers identified the AGPAT2 gene as the cause of congenital generalized lipodystrophy, a rare disorder characterized by extreme lack of body fat at birth. The disorder leads to severe diabetes, insulin resistance, and metabolic complications in affected individuals.
Researchers have identified ten new genes associated with salt sensitivity and hypertension in rats, which may help develop a treatment regimen for hypertensive patients. The study used DNA microarrays and a global gene screening tool to analyze the genetics of salt-sensitive hypertension.
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 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.
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.
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.