Articles tagged with Gene Families
Scientists have identified a brain molecule called NEAT1 that appears to play a central role in triggering light sensitivity (photophobia) during migraines. By disrupting the normal balance of nerve signaling and pain regulation, NEAT1 makes nerves more sensitive to light.
Researchers at Baylor College of Medicine have identified new variants of CDKL2 and CDKL1 genes associated with developmental disorders, including epilepsy. The study proposes a mechanism by which defective variants cause neurological symptoms in affected individuals.
Researchers at the University of Ottawa have developed a nanoparticle strategy to deliver both mRNA and siRNA, enhancing and interfering with multiple gene and protein expressions. This approach holds significant promise for treating major diseases like cancer and cardiovascular diseases.
Knowing family health history is crucial for reducing heart attack and stroke risk. Experts recommend following Life's Essential 8 - five health behaviors and three health factors to lower genetic risks.
A previously unstudied ancient gene called 'waist-less' is required for the development of a spider's narrow waist, according to researchers. The discovery sheds light on the formation of the distinctive body plan in spiders and highlights the function of new genes in ancient groups of animals.
A faulty copy of the ZNRF3 gene can lead to abnormal brain growth and neurological symptoms. The study found a correlation between patients' brain size and the location of mutations in the gene.
Researchers developed a treatment approach using lipid nanoparticles to deliver mRNA therapy for MSUD, extending survival and reducing serum leucine levels. The study also identified a novel AAV variant with desirable biodistribution properties for targeting peripheral organs.
Researchers analyzed historic potato leaves to understand the evolution of the potato-pathogen 'arms race' that led to the Irish potato famine. The study found that the pathogen has remained relatively stable over time, with some genes remaining unchanged despite human intervention.
A team of scientists has found that the same ancient gene family is responsible for prickles in multiple plants, including roses and eggplants. This discovery sheds light on convergent evolution and could have implications for understanding how similar traits emerge in different species.
A research team identified 12 VAP27 genes in the grapevine genome revealing their diverse subcellular localizations and roles in disease resistance. The study highlights the induction of VAP27 genes in response to downy mildew and their ability to inhibit Phytophthora capsici infection.
A recent study published in Nature Communications found that mammals with more developed brains tend to exhibit smaller sexual size dimorphism (SSD), meaning there is less difference in size between males and females. This suggests that complex brain development may be linked to other traits such as social behavior and mate selection.
Research reveals that ancient viruses can play a critical role in helping cancer survive and thrive. Silencing certain endogenous retroviruses may make cancer treatments work better by turning off nearby gene expression.
A study by Sant Pau Research Institute identified a new mutation in the ARPP21 gene linked to amyotrophic lateral sclerosis (ALS) in 10 patients from 7 unrelated families. The finding suggests that ARPP21 is a novel ALS-causing gene with potential for personalized therapies and diagnosis.
Scientists have mapped over 5,000 genetic variants in the 'tumour protection' gene BAP1 that significantly increase cancer risk. These variants can be used to develop new treatments, including IGF-1 inhibitors, to slow down or prevent cancer progression.
Adult carriers of BAP1 tumor predisposition syndrome show a high incidence of onychopapillomas, a benign nail tumor. This finding suggests using these skin abnormalities to identify family members and patients with cancers associated with the syndrome.
Researchers analyzed epigenetic modifications in motor neurons from nearly 400 ALS patients, identifying 30 locations with modifications linked to disease progression. The findings may help develop targeted treatments for specific types of ALS.
Researchers identified a spectrum of effects on sodium channel function due to SCN2A variants, with hyperactive channels linked to early seizure onset and underactive channels associated with autism. The study provides insights into the relationship between genetic changes, disease severity, and age of seizure onset.
Researchers have substantially enhanced the 'Taizhong 6' genome annotation, identifying 360 new genes and refining gene nomenclature. The updated annotation includes detailed miRNA expression profiles, benefiting gene functional studies in sweetpotato and advancing genomic analyses across the Convolvulaceae family.
Researchers have identified a suite of genes that activate abnormal growth of sensory neurons in tissues cushioning affected joints, leading to pain without inflammation. The findings may lead to new treatments for patients who do not respond to anti-inflammatory drugs.
This study explores the MADS-box gene family in passion fruit, revealing their role in floral organ morphology, non-floral organ development, and stress responses. The analysis identifies specific genes involved in regulating floral structure and highlights the adaptability of these genes to environmental stimuli.
Researchers reconstructed the entire evolutionary history of birds using advanced algorithms and genomic data from over 60,000 regions. The new family tree reveals patterns in avian diversification following the mass extinction event that wiped out dinosaurs.
Researchers developed a smartphone cognitive testing app that detects early signs of FTD in gene carriers before symptoms appear. The app was found to be comparable to gold-standard methods and may enable greater participation in clinical trials.
Researchers discovered that MEIS2 plays a critical role in activating genes necessary for the formation of inhibitory projection neurons, vital for motion control and decision-making. A MEIS2 mutation found in patients with intellectual disability disrupts these processes.
Researchers have identified a potential therapeutic target for Borjeson-Forssman-Lehman Syndrome, a neurodevelopmental disorder characterized by seizures and intellectual disability. The study found that PHF6 gene mutations impair Ephrin receptor regulation, leading to neural stem cell misregulation.
Researchers at the University of Bergen have identified a new gene linked to primary familial brain calcification (PFBC), a rare neurodegenerative condition. The discovery provides new insight into how brain calcifications occur and may help explain the development of dementia.
Researchers at Johns Hopkins Medicine have developed a novel approach to target group 3 medulloblastoma tumors in mice, reducing tumor growth by 40-50% and extending survival by up to 84 days. The therapy uses antisense oligonucleotides to block lnc-HLX-2-7 from binding to the HLX promoter region.
Researchers discovered that the human immune system borrowed a protein from a gene family responsible for cell migration to create an antibody-binding molecule. The J chain, which regulates antibody structure and function, originated from CXCL chemokines, a family of proteins regulating white blood cell movement.
Research findings show seagrasses have evolved unique adaptations to thrive in marine environments, including genome duplication and fine-tuning of supportive pathways. The study's results provide clues for conserving and sustainably using these important ecosystems.
Researchers discovered that fruit bats have a genetic system controlling blood sugar levels, allowing them to consume up to twice their body weight in sugary fruit daily. The study's findings may lead to the development of better insulin- or sugar-sensing therapies for people with diabetes.
A new study has found that evolution is influenced by a genome's evolutionary history, allowing scientists to predict gene interactions and tackle real-world issues like antibiotic resistance. This discovery opens the door to new possibilities in synthetic biology, medicine, and environmental science.
Scientists at the University of Bath have found that the gene Angiogenin plays an important role in the development of nerve cells. In its mutated form, it causes stem cells to persist in their original state longer than they should, resulting in neurodevelopmental defects.
Researchers identified 38 unique pathogenic variants in 57 patients, including novel variants specific to the Kazakh population. These variants were associated with an increased risk of triple-negative breast cancer and family history of breast cancer.
A recent study in Nature Communications has identified a gene cluster in wheat that produces triticein, an isoflavone compound with potential health benefits. This discovery offers opportunities for metabolic engineering efforts to improve wheat's nutritional quality and resistance to disease.
Researchers discovered a bitter taste receptor in sharks, similar to the one found in humans. This finding provides insights into the evolution of bitter taste perception, dating back around 500 million years.
A single infusion of CRISPR-based gene-editing therapy significantly reduced LDL cholesterol levels in people with heterozygous familial hypercholesterolemia, a condition that increases heart attack risk. The treatment has shown potential as a long-term or permanent option for high LDL-C control.
The study has shed light on how cats evolved into different species and how genetic changes relate to survival abilities like smell detection. It also revealed that cat genomes tend to have fewer complex genetic variations than other mammal groups, such as primates.
A new study has identified specific genes associated with diet and brain structure in kingfishers, which are capable of diving at high speeds. The findings suggest that these birds have evolved unique traits to protect their brains from concussive forces.
Researchers at UC Davis discovered a gene variant in Golden Retrievers that extends their lifespan by nearly two years. This finding has significant implications for human cancer studies, as the same gene is linked to cancer risk in humans.
Researchers have discovered a novel enzyme family related to bacterial pathogenicity in Gram-negative bacteria. The study revealed that enzymes involved in OPG synthesis and regulation play crucial roles in bacterial infection capability.
Researchers have developed STARVar, an artificial intelligence-powered method that leverages diverse data sources to identify genetic variants associated with diseases. The tool prioritizes genomic variants based on real-world patient symptoms, providing a more nuanced understanding of clinical presentations.
A team of researchers at Case Western Reserve University has identified a genetic defect in Caveolin-3 that increases the risk of developing esophageal adenocarcinoma. The discovery could lead to early screening, lifestyle modifications, and targeted treatments for individuals with a family history of the disease.
A new study in PNAS discovers a protein, Iditarod, that regulates autophagy in fruit flies, linking exercise to cellular maintenance and cold tolerance. Flies lacking the gene exhibit impaired exercise endurance and reduced ability to tolerate cold.
A new gene-editing technique combines peptide nucleic acids and prokaryotic Argonautes to introduce targeted breaks in the genome. The approach, called PNP editing, offers advantages over CRISPR-based methods, including improved specificity and targeting.
A research team at Ritsumeikan University has identified the elusive ApiT gene in celery, crucial for apiin synthesis. The discovery may pave the way for efficient biosynthesis of apiin, a compound with potential health benefits and medicinal uses.
Scientists have discovered an additional source of genetic mutations that cause rare conditions like Huntington's disease. Expanded CAG repeat RNA can form aggregates that reduce global protein synthesis and lead to neurotoxicity.
Researchers have found a promising new mechanism to target aggressive forms of prostate cancer, where the LSD1 protein is involved. By inhibiting LSD1, the tumor suppressor gene p53 can be reactivated, leading to suppression of tumor growth.
Researchers explore CDK9 inhibitors as a promising combination partner in treating hematological malignancies. They discuss the role of cyclin-dependent kinases (CDKs) in these diseases and highlight the potential synergism with other drugs.
Researchers create accurate tumor models using 3D bioprinting and a bioink made from Laponite, improving bonding and cross-linking capabilities. The study shows that Laponite enhances biological signaling in the tumor microenvironment, increasing cell viability and promoting anti-tumor drug development.
Researchers at EMBL Heidelberg discovered that mutations in the RBM20 gene cause familial DCM by disrupting normal RNA splicing, leading to detrimental cytoplasmic granules. Targeted gene editing via CRISPR-Cas9 and restoring nuclear localisation of RBM20 could improve therapy options for patients.
Researchers at North Carolina State University used CRISPR gene-editing to breed poplar trees with reduced lignin levels, while improving their wood properties. This breakthrough could make fiber production for paper, diapers, and other products more sustainable, efficient, and cost-effective.
Researchers found that the annulated sea snake possesses four intact copies of the opsin gene SWS1, two with ancestral ultraviolet sensitivity and two with evolved sensitivity to longer wavelengths. This suggests that sea snakes have regained color discrimination to distinguish predators, prey, and mates in their marine habitats.
Researchers at UCLA Jonsson Comprehensive Cancer Center confirmed genetic variants of unknown significance are verified mutations that increase the risk of kidney cancer. The findings could lead to new treatment options for people with hereditary leiomyomatosis and renal cell cancer (HLRCC).
The study of ToxR's protein structure bound to DNA has revealed how it triggers cholera toxin production. The research provides insights into the molecular mechanism behind Vibrio cholerae's virulence, shedding light on potential treatments for this disease.
Researchers from IMBA identify a family of virus-like transposons called Mavericks that facilitate horizontal gene transfer (HGT) between reproductively isolated worm species. The study reveals the role of Mavericks in overcoming the species barrier, with potential applications in pathogen control and genomic innovation.
A research group at Nagoya University used AI to determine that Piezo plays a crucial role in controlling the mating posture of male fruit flies. Inhibition of Piezo led to an ineffective mating posture, resulting in decreased reproductive performance.
A family of DNA elements has been identified as controlling the activation of genes known to cause a rare disease called MSL3 syndrome in children. The discovery sheds light on the mechanism behind this poorly understood disease and may lead to better treatments in the future.
Researchers analyzed BORIS mutations and protein expression in breast cancer tissue samples, finding frequent mutations associated with breast carcinoma progression. The study suggests the BORIS gene as a potential biomarker for breast cancer.
The LY6 gene family has been found to be overexpressed in uterine corpus endometrial carcinoma (UCEC), leading to poor patient survival. Several LY6 genes have been identified as potential tumor-associated antigens and biomarkers for UCEC detection and prognosis.
A team of researchers from UNIGE and Beihang University has identified the FOXI3 gene as responsible for one form of Goldenhar syndrome, a rare congenital disorder. Pathogenic variants in both copies of the FOXI3 gene are necessary for the disease to develop, following an autosomal recessive inheritance pattern.
Researchers at Kyoto University have discovered a genetic mutation that causes lethal arrhythmia in humans. The study found that a novel variant of the CALM2 gene produces robust arrhythmogenicity in human-induced pluripotent stem cell-derived cardiomyocytes.