Articles tagged with Gene Families
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.
The Arabidopsis thaliana plant's genetic evidence suggests it emerged between 50 and 200 million years ago. Researchers used computational tools to analyze its genome, finding duplicated chromosome segments that date back to ancient polyploid events, providing insights into the evolution of agricultural crops.
Scientists have found a novel gene, JM2, that causes an inherited form of type 1 diabetes and autoimmunity in boys. The mutations affect the protein's function, leading to hyperactive immune cells that destroy islet cells, resulting in diabetes and allergies.
Scientists found that RNA editing is essential for developing mature red blood cells in mammalian embryos. The study reveals that the ADAR1 gene plays a critical role in this process.
Researchers have identified a potential candidate gene for premature menopause, which may be responsible for up to a quarter of cases in under-25s. The study found that mutations in the inhibin alpha gene were present in three out of 43 women with premature menopause, compared to only one in 150 in an ethnically matched control group.
Researchers at UNC-CH have identified a small group of 30 genes that respond similarly to different conditions, providing a potential universal switch for the immune system among many plant species. This discovery could lead to engineered plants with improved disease resistance and increased crop yields.
A study by researchers at NIH has identified the HOXA1 gene as a potential contributor to autism in a large number of cases. The gene plays a crucial role in early brain development, and variants of the gene were found to be present in nearly 40% of individuals with autism.
Researchers at NYU Langone Health discovered a link between a bladder gene and vesicoureteral reflux, a condition that causes urine to flow backward into the kidneys. The study suggests earlier detection and treatment of the condition could prevent kidney failure.
Researchers at Indiana University School of Medicine isolated the gene responsible for autosomal dominant hypophosphataemic rickets, a rare disorder affecting bone development. The discovery was made possible by using online resources from the Human Genome Project, paving the way for potential new therapies.
Scientists have discovered genetic mutations causing hereditary lymphedema-distichiasis, a condition characterized by severe fluid retention and double rows of eyelashes. The FOXC2 gene on chromosome 16 is responsible for the mutations, which can also lead to heart defects, spinal abnormalities, and cleft palate.
A University of Iowa study found that individuals who test negative for Huntington disease often experience doubts and guilt rather than relief. They struggle to redefine their goals and purpose in life after learning they don't carry the gene mutation.
A recent NIH study discovered that gene alterations associated with cystic fibrosis may also contribute to chronic sinus problems in some individuals. The study found that nearly five times more patients with sinusitis carried CFTR alterations than those without the condition.
Scientists have characterized gene mutations in families affected by pseudoxanthoma elasticum (PXE), a rare disorder that can lead to progressive loss of vision, gastrointestinal bleeding, and cardiovascular disease. The study provides the basis for DNA-based carrier detection and prenatal testing.
Scientists have identified a gene mutation on chromosome 22 that causes Spinocerebellar Ataxia Type 10 (SCA10), a neurodegenerative disorder associated with motor incoordination and epilepsy. The discovery may lead to preventative measures by identifying ways to prevent neuron death.
Researchers discovered that certain genes are involved in both RNA interference and nonsense-mediated decay, a protective mechanism that prevents defective protein production. The findings provide valuable clues to the relationship between these two cellular processes.
Researchers discovered a high incidence of Alzheimer's disease in an Arab community, suggesting a possible role for a previously unknown recessive gene. DNA analysis revealed that only 4% of participants carried the apolipoprotein E-4 gene variant, lower than expected rates in other populations.
Researchers at UCSD Institute of Molecular Medicine have discovered a new genetic pathway that plays a pivotal role in the onset of sudden cardiac death. The study found defects in genes controlling heart's electrical wiring may lead to ventricular arrhythmia and sudden death.
A team of researchers has discovered the gene responsible for Mucolipidosis IV, a rare genetic disorder affecting Ashkenazi Jews. The newly identified gene is linked to impaired fat breakdown, leading to accumulation of fats and sugars in lysosomes.
Researchers at TSRI have cloned the TOC1 gene, which regulates circadian rhythms in plants, providing insight into how plants adapt to daily environmental changes. The study's findings suggest that understanding plant internal clocks may also elucidate clock mechanisms in other species, including humans.
A team of researchers has discovered a novel molecular structure that determines male or female physical characteristics in fruit flies. The findings have implications for humans as similar genes have been found in the human genome.
Researchers at Vanderbilt University Medical Center have identified Bone Morphogenic Protein Receptor Two (BMPR2) as the gene responsible for causing PPH, a fatal lung disease. The mutation of this gene causes cells to grow and clog blood vessels in the lungs, leading to high blood pressure.
Researchers have identified a protein that governs the flow of mineral-reducing pyrophosphate into joint tissues. This finding could provide powerful new insights into the basic mechanisms underlying some forms of arthritis, a group of diseases affecting half of people 65 and older.
Researchers propose a 10-year effort to understand Arabidopsis genes and their interactions. The goal is to build a complete "wiring diagram" of the plant's biological pathways and create a 'clickable plant' for interactive exploration.
Molecular geneticists have characterized gene mutations in families with pseudoxanthoma elasticum (PXE), a rare inherited disorder that can lead to blindness, early heart attacks, and cardiovascular disease. The study provides the basis for DNA-based carrier detection, prenatal testing, and improved diagnosis of the condition.
Researchers found a significant association between the L/S and S/S alleles of the serotonin transporter gene promoter region and suicidal tendencies in individuals with unknown psychiatric diagnosis. The study suggests that genetic factors, such as the 5-HTTLPR polymorphism, may contribute to autoaggressive behavior and violent suicide.
Researchers have localized a major susceptibility gene for schizophrenia on chromosome 1, according to a study published in Science. The study involved assessing 300 individuals from 22 Canadian families with a high incidence of schizophrenia over a 12-year period.
Researchers found a key cell gene that aids viruses in multiplying by commandeering host cell machinery. This discovery could lead to new therapeutic approaches and antiviral drugs effective against various RNA viruses.
A new study suggests that human aging and its associated diseases can be traced to gradual increases in cell division errors in tissues throughout the body. Altered gene expression results in cells with diminished function, leading to aging.
Researchers discovered two mutations in a sodium channel gene that regulate electrical activity in nerve cells, which may cause inherited forms of epilepsy. Genetic testing could identify at-risk infants and prevent seizures and neurological damage.
Researchers aim to uncover molecular signatures of cancer initiation using gene expression profiles. They will compare genes in hereditary colon, breast, and kidney cancers with normal tissues to identify altered genes and target potential chemopreventive agents.
Researchers have identified a protein, Chk2, that activates the tumor suppressor gene p53 to prevent damaged DNA from causing cancer. In Chk2-deficient cells, the brakes on proliferation are released, allowing cancerous cell growth.
Researchers have identified five genes statistically linked to prostate cancer in about 500 men. The strongest candidate has the hallmarks of a gene that thwarts cell division, potentially playing a major role in causing prostate cancer when it fails to function.
Researchers at Ohio State University have developed a new technique to improve the accuracy of genetic testing for cancer and inherited diseases. The method separates human chromosomes and allows for independent analysis of each copy, detecting key mutations that were previously missed.
Researchers developed a new laboratory method to improve genetic diagnostic tests for colon cancer and inherited diseases. The technique detects defective genes that are masked when one copy is normal, increasing the accuracy of testing. This could lead to increased detection rates for many genetic diseases.
Researchers at Johns Hopkins Medicine have developed a technology called Conversion that dramatically improves the accuracy of genetic tests for cancer risk. The technology separates alleles, allowing for individual analysis and detection of previously missed genetic alterations.
Researchers identified a link between genetic mutations in the cathepsin C gene and severe gum disease and periodontitis. The study found that individuals with normal functioning of the cathepsin C gene tend to have healthy gums, suggesting dietary, bacterial, and other genetic factors can compromise its function.
Researchers identified distinct regions in the DNA where random genetic changes are more likely to benefit or harm an organism, suggesting a potential way to analyze genetic information from humans and other species. The study's findings could aid in understanding how life developed various proteins.
Researchers have discovered the cause of enhanced S-cone syndrome (ESCS), a disorder that affects sensitivity to blue light and development of night blindness. Mutations in the photoreceptor gene NR2E3 were found in 94% of DNA samples from ESCS-affected individuals.
A new study in mice suggests that increasing copies of the SMN2 gene can produce sufficient amounts of survival motor neuron (SMN) protein, potentially treating human SMA patients. The research found that activating the expression of this gene may provide a strategy for treating human SMA patients.
Researchers at Yale have discovered new insights into the development of polycystic kidney disease (PKD), a life-threatening genetic disorder affecting millions. The study reveals crucial information about the PKD2 gene's role in normal development and its impact when mutated.
Scientists discovered a PAX9 gene mutation causing congenitally absent molars in a Houston family, revealing insights into the genetics of human tooth development. The study, published in Nature Genetics, used molecular epidemiology and DNA analysis to identify the responsible gene, which is activated early in tooth development.
A study at Massachusetts General Hospital identifies a new tumor suppressor gene CHK2 in Li-Fraumeni syndrome, which shares similar functions with p53 and controls cell growth. The discovery provides a potential new target for developing chemotherapy approaches to make cancer cells more vulnerable.
A team of scientists has discovered the gene responsible for Papillon-Lefevre syndrome, a rare condition characterized by thick, cracked skin and premature tooth loss. The study identified mutations in the cathepsin C gene, which may help understand the development of periodontal disease.
A genetic defect in a protein receptor has been identified as the cause of Leydig cell adenoma, a rare testicular tumor that triggers early puberty in boys. The mutation leads to rapid growth and overproduction of testosterone without normal hormonal signals.
A study suggests a link between chromosome 13 and autism, with another region on chromosome 7 also showing promise. The research, published in the American Journal of Medical Genetics, involved 75 families with at least two autistic children.
A team led by David Page has discovered the first mutation on the Y chromosome linked to male infertility. The finding may lead to the development of treatments and male contraceptives.
Victor Velculescu, a cancer researcher, develops SAGE technique to rapidly analyze gene expression in cells. The method provides a snapshot of all active genes and has potential applications in disease research.
The study found that a gene called Tcr, which is transmitted at up to 95% from male carriers to their progeny, encodes a protein kinase likely to control sperm motility. This allows for the manipulation of transmission ratios and potentially exclusive fathering of female offspring in farm animals.
A national research project will investigate how insulin resistance, a precursor to Type 2 diabetes and obesity, is inherited in three generations of family members. The study aims to identify specific genes responsible for these conditions.
Researchers have discovered a genetic on-off switch in yeast that could be used to control insulin levels in diabetics. The switch, consisting of two main parts, can be turned on or off by adding a chemical inducer, allowing for tight control over gene expression.
Researchers found that a common mutation in the CYP17 gene is associated with higher testosterone levels and larger, stronger bones in men. The study measured hormone levels, stature, and bone mass in 333 Caucasian men aged 51-84 years.
A team of researchers has identified a genetic link on mouse Chromosome 19 that controls inherited susceptibility to testicular cancer. The discovery uses a new genetic technique called chromosome substitution, which may lead to improved understanding and treatment options for the disease.
Researchers at Howard Hughes Medical Institute uncover the first human disease linked to a defect in the MECP2 gene silencer mechanism. The discovery provides new insights into nervous system development and may lead to new treatments for Rett Syndrome, a neurodevelopmental disorder causing mental regression in young girls.
Researchers have identified the gene responsible for Rett syndrome, a condition that gradually robs girls of their language, mental functioning, and ability to interact with others. The discovery has immediate implications for diagnosis and treatment.
Researchers found that women with BRCA1 or BRCA2 mutations have a 40% risk of local recurrence and developing new tumors, making breast-conserving therapy less optimal. The study suggests that mastectomy may be a more suitable treatment option for these women to reduce the risk of recurrent disease.
The consortium aims to collect medical information and genetic material from 400 families nationwide with AS to identify additional genes associated with its pathogenesis. Researchers will conduct genome-wide searches and map genes linked to AS outside of the MHC.
Scientists have found that the gene order in Arabidopsis, a model eudicot, is not preserved in rice, a model monocot. This discovery reveals an evolutionary divide between dicots and monocots, cautioning against using Arabidopsis genome for understanding cereal crops like rice and wheat.
A team of international researchers has identified the gene responsible for congenital generalized lipodystrophy, a severe form of lipodystrophy characterized by selective loss of body fat from birth. The discovery is expected to provide insights into common obesity and metabolic disorders.
Scientists discover that removing two proteins controlling cell proliferation can lead to deadly consequences, including leukemia and immune system dysfunction. The study reveals critical regulatory roles of SOCS1 in T cells and its absence makes cells sensitive to cytokines.