Articles tagged with Gene Families
A new gene, GPD1-L, has been identified as responsible for a rare form of cardiac arrest known as Brugada syndrome. The mutation impairs the heart's natural electrical ability to beat in a coordinated manner and maintain a stable rhythm.
A new study suggests that ANKK1 gene may play a role in addictive behaviors, providing a potential explanation for inconsistent findings with the dopamine D2 receptor gene (DRD2). The research used data from the Collaborative Study on the Genetics of Alcoholism and found evidence of association between ANKK1 and addiction phenotypes.
A recent study from Michigan Medicine researchers reveals that specific 'junk' RNA genes, known as microRNA34, work with the protective gene p53 to regulate cell growth and prevent cancer. The loss of these microRNAs is linked to common lung cancer.
Researchers at BRIC, University of Copenhagen, identified a new gene family (UTX-JMJD3) controlling embryonic development and stem cell maintenance. The discovery may contribute to understanding cancer development and therapeutic use of stem cells.
A recent genomics study has identified genes and gene families associated with human traits such as endurance running and cognitive function. The study found that gene copy number variations in humans may have contributed to the evolution of these traits, with some genes being unique to the human lineage.
Researchers have identified a new gene mutation in the progranulin gene associated with frontotemporal dementia. The mutation leads to a loss of protein production, which can cause brain cell death. This discovery provides new insights into the disease and may lead to the development of new therapies.
Researchers from the Autism Genome Project have made significant discoveries about the genetic basis of autism, implicating previously unidentified regions and genes in chromosome 11 and neurexin 1. The study's findings hold promise for diagnosis and treatment breakthroughs.
Researchers found that humans and chimps share approximately 96% of their genes, with the remaining 4% being unique to each species. The study discovered a significant increase in gene duplication among humans, including those influencing brain functions, providing new insights into human evolution.
Researchers identify palladin as the first familial pancreatic cancer gene, linked to a large family with 18 members affected by the disease. The mutated gene is associated with overexpression and disruption of cytoskeletons in cancer cells.
Scientists have mapped a common form of Fuchs corneal dystrophy to chromosome 18, shedding light on its genetic origins. The discovery has implications for developing gene therapies to treat the condition.
The study investigates how environmental and evolutionary factors influence genome structure and diversity through the proliferation of genes into multi-gene families. The research reveals that ecological factors play a significant role in shaping organismal complexity.
Mutations in the progranulin gene cause frontotemporal dementia (FTD), a group of brain disorders affecting personality and speech. The discovery reveals the mechanism that causes the disease and points to potential therapeutic approaches.
Researchers at UCSD have identified a family of 11 genes involved in the synthesis of auxin, a key plant hormone. Disrupting these genes reveals that localized production of auxin controls plant architecture, contradicting previous assumptions. This discovery has significant implications for crop improvement and development.
Researchers identified a family of 11 genes involved in auxin synthesis and found that their localized production influences plant development. This discovery can be applied to agricultural problems like producing seedless fruit or stronger stems.
Researchers discovered that Snail family genes play a consistent role in controlling body asymmetry in mice and birds, but have a different function in neural crest cell formation. This finding provides surprising new insights into the evolution of developmental biology across species.
A recent study discovered the PLA2G6 gene, linked to neuroaxonal dystrophies, may shed light on nerve cell degeneration in Parkinson's and Alzheimer's. The discovery has implications for understanding brain iron accumulation and potential treatments.
Researchers found that individuals with one mutated parkin gene and one normal gene (heterozygotes) developed Parkinson's disease 11.7 years earlier than those with no mutations, indicating a stronger genetic effect than previously recognized.
A new study identifies a gene rearrangement involved in prostate cancer, suggesting that fusions involving ETV4 and two other genes may account for the majority of prostate cancers. The finding confirms the importance of the ETS gene pathway in causing prostate cancer.
Researchers found that human Y chromosome retained its genes despite chimp's mutation, likely due to human monogamy. The study suggests natural selection preserved regions of the Y with self-repair mechanisms.
A team of researchers at Harvard Medical School has identified a new family of genes that extend lifespan when combined with low-calorie diets. The study, led by Dudley Lamming, suggests that these genes may protect against diseases such as cancer, heart disease, and diabetes.
A Swedish study found that adolescents with a specific genetic variation in the serotonin transporter gene and poor family relationships are more likely to engage in high-intoxication frequency. Conversely, a favorable family environment can protect against genetic vulnerability. The study suggests an interaction between genetic and en...
Scientists discovered the ESCO2 gene responsible for pseudothalidomide syndrome through advanced genetic analysis and comparative genomics. The study provides new insights into craniofacial and limb development, health, and disease.
Researchers at Duke University Medical Center have identified a gene defect that causes Charcot-Marie-Tooth disease, a prevalent and inherited nerve disorder. The discovery provides new insights into the nervous system and may lead to the development of targeted therapies for this debilitating disease.
Researchers at Temple University have discovered a new family of genes that could serve as a potential cancer marker. One form of the gene, NSP5a3a, is highly expressed in some tumor cell lines and may be useful for developing diagnostic tests and cancer therapies.
Researchers at UT Southwestern Medical Center have identified a gene family involved in determining the potential for acquiring lupus, a debilitating autoimmune disease that affects more than one million Americans. The study found that genetic susceptibility to lupus results from an imbalance between genes that increase and suppress th...
Researchers have found that variations in the SLAM/CD2 gene cluster may contribute to autoimmune disease SLE in mice. The study suggests that altered members of this family may be responsible for abnormal lymphocyte responses.
A study by University of Utah vision researchers identified a single gene mutation causing Beehive Syndrome, a rare eye disease with symptoms including optic atrophy, deafness, and ptosis. The discovery could lead to greater diagnoses and treatments for patients with the condition.
Scientists have identified two genetic mutations in the PARK8 gene that contribute to Parkinson's disease, a condition characterized by tremors and motor impairments. The discovery provides new insights into the molecular mechanisms underlying the disease and may lead to targeted interventions.
The identification of the BBS3 gene marks a significant breakthrough in understanding the complex obesity syndrome. By studying the function of the newly discovered protein, researchers hope to unravel the details of other BBS proteins and their potential connections to obesity, learning difficulties, and other related problems.
Researchers identified a shared gene family responsible for calcium binding in bones, enamel, dentine, milk, and saliva. The genes, including SPARC and SPARCL1, evolved from a common ancestral gene and reside on the same chromosome in most vertebrates.
Researchers have identified a novel gene linked to familial Parkinson's disease, revealing a new pathway for therapeutic treatment. The discovery places mitochondrial function at the centre of Parkinson's research, particularly in relation to oxidative stress and brain cell degeneration.
A study of 1,036 individuals from 266 families discovered that genetics significantly impacts memory performance, accounting for up to 80% of the variation. The influence of genes on memory abilities was stronger than previously thought and appears to be relatively unaffected by the presence of Alzheimer's disease.
Scientists have discovered that snakes made their debut on land, not in the ocean, as they evolved from their lizard ancestors. The research resolves a long-debated question about the origin of snakes and provides evidence for why they lost their limbs.
Researchers have identified multiple families with a genetic mutation causing gout and kidney failure, developing in teenage years and progressing to end-stage kidney disease by the 40s or 50s. The team hopes to find family members who may be unaware of their condition and develop improved treatment for this rare disease.
Researchers uncover two neighboring genes, Rsl1 and Rsl2, that repress male-specific liver gene expression in female mice. This discovery sheds light on the genetic basis for gender differences in liver function, revealing a complex interplay between multiple genes.
A research team at Johns Hopkins Medicine has identified a potential new contributor to obesity and learning disabilities, faulty cilia, in the rare genetic disorder Bardet-Biedl syndrome. Cilia play key roles in mammalian development, but defects have never been directly linked to this condition before.
Researchers at the University of Toronto have discovered a gene, Fkbp6, essential for male fertility but not female fertility. The study shows that the gene plays a critical role in sperm cell development and chromosome pairing, highlighting potential new principles in how cells control the number of chromosomes.
A team of researchers discovered a genetic break in human chromosome 14 affecting brain development and behavior. The broken gene may contribute to mental illness, including schizophrenia, in affected families. The study provides a crucial piece of the puzzle in understanding the complex disease.
Researchers discovered the GARS gene responsible for Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V, providing insights into neurological diseases. The study may lead to new treatment approaches and a better understanding of peripheral nerve diseases.
Researchers at The Wistar Institute have discovered a family of molecular complexes involved in the repression of extensive sets of tissue-specific genes. These complexes share two core subunits, including histone deacetylase and BHC110, which operate as co-repressors to maintain gene silencing.
Researchers found that people with a family history of colon cancer were more likely to have high-risk diets, including cooked red meat and low folate levels. Modification of these factors could provide broad benefits for individuals with a family history, regardless of their genes.
Researchers found that closely related genes in maize can be located elsewhere in the genome, leading to increased hybrid vigor. This discovery has important implications for improving agriculture and developing new, more productive lines of corn.
A Yale research team identified a genetic mutation in the Wnt signaling pathway that leads to high bone density, a trait seen in one in a million people with no symptoms. The findings suggest a new route for developing medications to increase bone density and prevent osteoporosis without clinical side effects.
Researchers have identified a region of chromosome 4 associated with pancreatic cancer, which may lead to earlier identification and treatment. The discovery has potential implications for understanding the disease's causes and developing new 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.
A team of researchers at Stanford Medicine has discovered a new gene family, the Tim family, that plays a crucial role in asthma development. The link between this gene family and the hepatitis A virus may help explain why asthma rates have increased where hepatitis A infection rates have dropped.
Researchers identified BONZAI1 as a central player in Arabidopsis plant growth homeostasis. The gene influences plant size at different temperatures, with mutant cells failing to grow normally at cooler temps. A related protein, BAP1, was also found to interact with BONZAI1 and is more highly expressed at lower temps.
A study published in Science identified two genes, WNK1 and WNK4, that cause pseudohypoaldosteronism type II (PHAII), a disorder leading to hypertension. The researchers found that the mutated genes are overexpressed in affected family members, leading to increased salt reabsorption and blood pressure.
Researchers at UT Southwestern Medical Center have identified a protein called myocardin, which is crucial for heart development in embryos. The study found that myocardin is necessary for the formation of cardiac genes and could potentially be used to convert non-cardiac cells into heart cells.
A study by University of Pennsylvania researchers found that the human myelocytomatosis (MYC) gene can induce spontaneous mutations in other genes, such as Nras or Kras2, leading to more tumor growth even after the MYC gene is shut off. This has implications for the search for therapeutics in cases of MYC-induced breast cancer.
Researchers have identified a genetic mutation, FOXL2, responsible for early onset of menopause in some women, who may also be born with blepharophimosis. The discovery sheds light on the role of genetics in age-related changes and may lead to new insights into aging and reproductive health.
Researchers will examine genetic factors that might predispose people to ischaemic stroke, using a novel molecular strategy and data from 500 patients. The study aims to identify genes involved in stroke and develop new treatments, which could increase protection against subsequent strokes.
Researchers have identified the RMRP gene responsible for cartilage-hair hypoplasia, a rare syndrome causing dwarfism. The discovery may lead to better understanding and treatment of the disease, which affects worldwide but is prevalent in Finnish and Amish populations.
A newly completed genomic sequence of E. coli O157:H7 reveals how these bacteria are armed with a wide range of genes that trigger illness. The study found large-scale genetic changes, including the ability for viruses to introduce virulent genes, making it harder to control public health threats.
The AAPS PharmSci theme issue delves into the current status of personalized medicine and its promises and limitations. The issue explores new technologies, genetic testing, and individualized approaches to drug therapy.
Researchers at Johns Hopkins Children's Center found a faulty releasing hormone receptor gene in three families with isolated growth hormone deficiency type 1-B, the most common type of growth hormone-deficient dwarfism. The study suggests that this condition is not caused by a defect in human growth hormone production.
Researchers at University of Wisconsin-Madison have identified the genetic basis of Alexander disease, a rare and devastating childhood brain disorder. The discovery confirms mutations in the GFAP gene as the cause, leading to an abnormal protein buildup that damages the nervous system.
Scientists at Mayo Clinic have identified a region on chromosome 10 as a potential contributor to late-onset Alzheimer's disease, affecting amyloid β protein processing. Researchers hope to discover the associated gene and potentially identify individuals at risk before they develop the disease.
Researchers have discovered a potential genetic risk factor for late-onset Alzheimer's disease on chromosome 10, linked to amyloid protein processing. The findings suggest that more than one gene may contribute to the development of late-onset AD, offering new hope for diagnosis and treatment.
A new method developed by Cornell researchers allows for fast comparison of genomes, tracing evolutionary paths and identifying genes. This enables practical applications in plant breeding, medicine, and disease research, with potential breakthroughs in disease resistance and nutritional value.