Articles tagged with Gene Families
A recent study by 26 National Alzheimer's Disease Centers found that a test for the ApoE E4 form of genetic testing can reduce false positive diagnoses by approximately 30%. The study suggests this tool may be helpful in supplementing clinical diagnoses of dementia, but more research is needed to confirm its universality.
The study used identical twins to investigate the role of genes in individual differences in response to chronic overfeeding. The results showed significant similarity within pairs for body weight, fat distribution, and insulin levels, but reduced similarity when accounting for total body fat.
Researchers at Columbia University have identified the first human gene associated with hair loss, offering new possibilities for treating various forms of alopecia. The 'hairless' gene initiates a cascade of events that stimulate hair growth, potentially leading to more effective treatments and gene therapy.
Researchers at Ohio State University have identified a new category of tumor suppressor genes associated with Peutz-Jeghers syndrome, a rare inherited disorder. The study found that the PJS gene produces a protein kinase enzyme, which is not produced in cancer-causing scenarios.
Researchers at Memorial Sloan-Kettering Cancer Center have identified a combination of drugs that can induce leukemia cells to mature and behave like normal blood cells. By targeting genetic changes underlying acute promyelocytic leukemia, the team developed a novel 'transcription therapy' approach that may improve treatment for other ...
Researchers identified a novel gene, Doublecortin, involved in cortical development and associated with severe forms of epilepsy and mental retardation. The gene is linked to the X-SCLH/LIS syndrome, which affects brain structure and function.
Scientists have identified the gene responsible for Peutz-Jeghers syndrome, a rare autosomal inherited disease characterized by gastrointestinal polyps and an increased risk of various tumors. Mutations in the STK11 enzyme lead to its loss of function, triggering the development of polyps and cancer.
A recent study by Daniel S. Kessler found that activation of siamois, a homeobox gene, is required for the formation of Spemann's organizer in frogs. The siamois gene is turned on by Wnt proteins and activates organizer genes, crucial for embryonic development.
Scientists have confirmed a genetic connection to bipolar disorder by locating a gene on the long arm of human chromosome 18. This finding strengthens earlier research and could lead to better treatments and tests for the condition.
Researchers investigated the role of Btk in B cell development and found it essential for choosing which B cells launch an attack against invading bacteria. Additionally, Btk plays a crucial role in telling B cells not to react to autoantigens, preventing autoimmune diseases like rheumatoid arthritis and diabetes.
A new delivery system may allow for more precise control over where new genes are inserted into an organism's chromosomes, improving gene therapy. The approach uses parvoviruses to target specific locations on the chromosomes, reducing the risk of genes causing harm or functioning poorly.
Researchers successfully cloned a gene responsible for inherited deafness in a large extended family in Costa Rica, revealing insights into hearing mechanisms. The autosomal dominant gene DFNA1 causes progressive hearing loss between ages 6 and 20, with the mutation tracing back to a common ancestor in 1713.
MSH6 mutations have been found in human families with hereditary non-polyposis colon cancer, confirming the gene's role in cancer predisposition. Knockout mice studies show that MSH6 is crucial for preventing tumor development, highlighting a new path for research in cancer diagnosis and development.
Researchers have identified a genetic susceptibility locus for ET, a debilitating disorder characterized by tremors in the arms, head, neck, and voice. The discovery paves the way for future research to identify the cause of ET and develop more effective treatments.
Researchers at Columbia University Irving Medical Center identified the P-TEN gene as a new breast cancer susceptibility gene. The discovery could lead to better tests for early detection and more effective treatments for women with Cowden's syndrome, an autosomal dominant disorder that increases breast cancer risk by 50-75%.
Researchers at UC Irvine have identified a gene associated with an increased risk of schizophrenia and manic-depressive illness. The gene encodes a potassium ion channel protein that controls electrical activity in nerves, and its altered function may contribute to brain behavior changes.
A husband-and-wife team of psychiatrists are conducting a major population-based study to find the gene(s) linked to schizophrenia. The five-year study will be carried out in the Azores and on the Portuguese mainland, using genetic markers and genome-wide scans.
Researchers have found a possible genetic cause of bipolar affective disorder, linking it to the serotonin transporter gene. The study suggests that variations in this gene may lead to unstable moods and increased susceptibility to the illness.
A landmark study found a unique interaction between proteins produced by two brain genes, mdab1 and reelin, crucial for normal brain development. The discovery may lead to breakthroughs in cancer research and treatments for neurological disorders like schizophrenia and epilepsy.
Scientists have identified a new genetic risk factor for late-onset Alzheimer's disease, accounting for up to 15% of cases. The gene located on chromosome 12 works independently of the previously discovered ApoE gene, which accounts for half of all patients with the disease.
Researchers at Massachusetts General Hospital identified a new rare form of diabetes, MODY4, associated with the ipf-1 gene. The study found that most family members with diabetes carried a single copy of the mutation, highlighting the critical role of this gene in insulin secretion.
A MGH-led team has pinpointed the location of the DYT1 gene on chromosome 9, revealing it is responsible for virtually all cases of early-onset dystonia. The discovery may help understand how stress triggers neurological diseases and lead to the development of a blood test to diagnose the disorder.
deCODE Genetics has identified the location of a gene, FET1, responsible for familial essential tremor on human chromosome 3. This discovery brings new hope for understanding and treatment of the disease, which affects an estimated 5-10 percent of the elderly population.
Researchers at Oregon Health & Science University found an association between the HLA-A2 gene and the age of onset for Alzheimer's disease. The study suggests that the two susceptibility genes HLA-A2 and apolipoprotein E (APOE) together account for a decade variation in the age of onset.
Researchers have identified the gene responsible for Familial Mediterranean Fever (FMF), an inherited disease characterized by recurring fevers, abdominal pain, and inflammation. The discovery of the pyrin protein mutations may lead to a simple diagnostic blood test and improved treatments for FMF.
A new gene, AIB1, has been discovered in breast cancer cells that amplifies their growth. The gene is part of a family known as SRC-1 and interacts with steroid hormone receptors, enhancing tumor cell growth.
Researchers have identified the daf-2 gene as a potential target for slowing aging in humans. Altering glucose metabolism may be crucial in extending lifespan. By understanding this mechanism, scientists hope to uncover new strategies for promoting healthy aging and increasing human longevity.
Researchers have identified the TSC2 gene as the second gene responsible for tuberous sclerosis complex (TSC), a genetic disorder affecting 1 million people worldwide. The discovery of this gene brings hope for diagnostic testing, therapies, and improved understanding of autism and seizure disorders.
Researchers found a direct evidence of simian virus 40's potential mechanism in the development of mesothelioma, a rare cancer associated with asbestos exposure. The study suggests that SV40 targets key proteins preventing tumors from forming, rendering them ineffective.
Researchers from the University of Wisconsin-Madison have discovered a critical step in cell communication that promotes bone formation, limb growth, and tissue development. The study reveals how the MAD protein regulates gene transcription in response to specific signals.
Scientists at NIH have identified a gene alteration associated with NPC, leading to improved diagnosis and understanding of the disease. The finding also offers insights into cholesterol metabolism and may contribute to treatments for atherosclerosis.
A recent study found that inhibiting the ICE gene, responsible for programmed cell death, slowed ALS-like symptoms in mice. The research suggests that targeting this genetic pathway could lead to a new treatment option for patients with ALS.
A study of 66 children who stuttered found a strong genetic link to the condition. Most people who stutter have a common genetic factor that contributes to their persistence, with males being more likely to experience persistent stuttering.
Researchers have identified a gene, CBFA1, essential for bone-forming cells to arise in the embryo. Disruption of this gene causes cleidocranial dysplasia, a developmental disorder that stunts bone growth.
Researchers at the University of California, Davis have identified a key gene involved in fruit ripening, which could lead to genetically engineered tomatoes with improved shelf life. The LeExp1 gene produces expansin proteins that loosen plant cell walls, allowing cells to elongate during growth.
A multi-centered team of researchers found a link between a specific gene abnormality and autism, potentially leading to more precise diagnosis and treatments. The study identified a shortened form of the serotonin transporter gene promoter as a key factor in autistic children.
A study from Rockefeller University found that a specific altered gene, COMT, may increase the risk of OCD in men. The researchers discovered that this gene affects the production of dopamine and norepinephrine, leading to a biochemical imbalance that contributes to the development of OCD.
The NIH team identified the MEN1 gene, a tumor suppressor gene that inhibits abnormal cell growth. This discovery enables easier screening for families at risk of MEN1 and provides a target for designing drugs to prevent or treat endocrine tumors.
Research sheds light on climate change by showing fish in Antarctica and Arctic independently evolved similar antifreeze glycoproteins, linked to environmental adaptation. The genes arose around 5-14 million years ago, providing new evidence for the Southern Ocean's freezing timeline.
A team of researchers has solved a centuries-old puzzle in eye development by discovering that the embryo has a single eye field that normally separates into two. The study found that an inhibitory signal shuts off gene expression in the middle of the eye field, leading to cyclopia if this fails to happen.
Researchers found that Bcl-xL protein can insert itself into artificial membranes, allowing ions to pass through normally impermeable barriers. This discovery suggests a potential lead on how these proteins regulate cell survival and coordinate cellular activities.
The approved draft proclaims the set of genes determining heredity as a 'common heritage of humanity' based on recognition of inherent dignity and equal rights. The seven-chapter declaration covers research in the human genome, rights of persons concerned, and international cooperation between developed and developing countries.
Researchers at Stanford University and their colleagues have isolated a single gene, fru, that controls most aspects of male sexual behavior in adult fruit flies. The gene governs the fly's courtship ritual, including its courting song and ability to recognize females.
Researchers have identified two interacting genes linked to adult-onset diabetes, which regulate gene expression in the liver, kidney, and intestine. The discovery opens up new avenues for treating this complex disorder.
Scientists have discovered a new gene that causes Rieger syndrome, a rare disorder affecting tooth development and leading to glaucoma in 50% of cases. The RGS gene is similar in structure to genes found in fruit flies and mice, suggesting its role in human development.
Scientists have identified a major gene, HPC-1, that predisposes men to prostate cancer, located on chromosome 1. The gene is believed to contribute to at least a third of familial prostate cancer cases.
Scientists have isolated and cloned the gene responsible for Fanconi anemia (FA), a rare disorder causing severe bone marrow failure, birth defects, and leukemia. The discovery enables the development of a quick diagnostic test for 65% of FA patients and may lead to better treatments, including gene therapy.
Researchers have identified a second gene associated with hereditary multiple exostoses, a rare bone disorder characterized by the proliferation of benign tumors. The discovery provides insight into the disease's causes and potential tumor suppressor function.
An international research group has located a new gene, NIDDM2, linked to type 2 diabetes in Finland. The gene is found in the same region as MODY3, a rare early-onset form of diabetes.
A CU-Boulder research team has identified two yeast genes, SAS2 and SAS3, closely linked to a family of human genes associated with severe leukemia and HIV-1. The discovery may help researchers better understand the causes of acute myeloid leukemia and AIDS.
Researchers at NIAID have determined the entire genetic sequence of molluscum contagiosum virus (MCV), which causes persistent and sometimes disfiguring skin lesions in HIV-infected individuals. The complete DNA sequence will enable testing of drugs against MCV genes and studying how the virus evades immune responses.
An international team of scientists has identified the gene responsible for anhidrotic ectodermal dysplasia (EDA), a condition affecting the development of skin, hair, and teeth. The discovery provides a molecular marker to identify female carriers and is a step towards developing therapeutic interventions.
A team of researchers has identified a gene responsible for hair growth, tooth development, and sweat gland function. The gene, located on the X chromosome, is associated with a rare genetic disorder called anhidrotic ectodermal dysplasia (ED), which affects approximately 125,000 Americans.
Researchers have identified a second gene linked to hereditary hemorrhagic telangiectasia (HHT), a bleeding disorder that affects 1 in 40,000 people. The discovery provides new understanding of how the body's vascular system operates and may offer hope for families affected by the disease.