Articles tagged with Gene Families
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.
A nationwide UK research study has diagnosed around 5,500 children with severe developmental disorders, identifying the genetic cause of their condition. The Deciphering Developmental Disorders study used genomic sequencing technology to provide diagnoses for families from across the UK and Ireland.
A new study finds that clear and accurate information about the cause of death, provided in multiple formats, can influence family members' decisions to seek follow-up screening for inherited heart conditions. The study suggests that communication from death investigators and health care professionals is crucial in addressing families'...
A new American Heart Association scientific statement provides guidance on interpreting incidental genetic variants associated with cardiovascular disease risk. The statement aims to determine whether a variant truly carries a health risk and suggests next steps for individuals and healthcare professionals.
Researchers at the University of California, Davis, have discovered a key to improving drought-resistant wheat plants by stimulating longer root growth. By increasing the copies of specific genes, plants can absorb water from deeper supplies, leading to increased biomass and higher grain yield.
Researchers explore CEACAM1, CEACAM5, and CEACAM6's pathological significance in cancer biology and immunology. The review highlights their interactions with pathogens and potential avenues for cancer therapy.
Researchers at Okayama University discovered genes and proteins responsible for the rapid contraction of axopodia in Heliozoa, a group of eukaryotes. The study identified key players in microtubule disruption, including katanin p60, kinesin, and calcium signaling proteins.
Researchers found that the presence of one Mindbomb1 mutation does not always lead to non-compaction cardiomyopathy, but depends on genetic context provided by other gene mutations. The study identified modifier genes contributing to disease severity and diversity in affected individuals.
Care4Rare has made significant progress in diagnosing and discovering genetic causes of rare diseases, providing answers for 34% of participating families. The organization has also developed platforms for data sharing and collaboration to solve ultra-rare diseases.
Researchers at La Jolla Institute for Immunology discovered a direct link between TET protein loss of function and missing genes in embryonic stem cells, which can lead to cancer growth. The study found that TET proteins are crucial for maintaining genome stability, and their loss results in aneuploidies, a common feature of cancer cells.
Researchers have discovered a family of selfish genes, wtf, that have survived for over 100 million years in yeast, contradicting established beliefs on their longevity. These 'killer meiotic drivers' transmit themselves to half of offspring and destroy reproductive cells without being suppressed by natural selection.
A study identified orphan genes in Wild sugarcane that may play a significant role in its stress resistance properties. The researchers believe these genes could be responsible for the species' exceptional resistance to biotic and abiotic stresses.
Researchers have identified a complex of proteins in a tiny marine invertebrate that share similarities with the human immune system, suggesting an earlier origin for the building blocks of our immune system. The study could ultimately guide the development of new immunotherapies and improve understanding of transplant rejection.
Researchers identified 15 instances of mucinization, where new mucins emerged from non-mucin proteins by adding repeating sequences. This process transformed the proteins into mucins with gooey consistency, contributing to their various biological functions.
Researchers discovered an evolutionarily-conserved genomic region that regulates Wingless protein expression during wing formation and regeneration. This region also ensures proper wing development, but chronic activation leads to tumour growth.
Inherited mutations in the MINAR2 gene cause deafness in four families, with progressive hearing loss in some affected individuals and mice. The study suggests these cases may be suitable for intervention with genetic therapies.
Researchers have created a new electrical test to screen hundreds of gene mutations, pinpointing harmful mutations that cause inherited heart disorders and sudden death. The breakthrough can identify genetic variants associated with neurological conditions, muscle and kidney diseases.
The completed human genome assembly has revealed new insights into human evolution and diseases. Researchers found that highly repetitive regions, including segmental duplications, contain genes critical for brain development and function. These findings shed light on the genetic factors that make humans distinct from other primates.
Researchers discovered two WOX genes controlling lateral root primordium size in rice, improving drought stress tolerance and crop production. QHB/OsWOX5 regulates S-type roots, while OsWOX10 mediates L-type root development, enhancing water uptake under drought conditions.
Weill Cornell Medicine researchers have developed a new approach to analyze genetic mutations associated with spina bifida, shedding light on this complex birth defect. The study uses machine learning to identify genes and molecular pathways relevant to neural tube closure.
A study by EPFL researchers reveals that CTCF sites within the HoxD cluster contribute to organizing genes into topologically associated domains, helping to organize developmental complexity. The dual function of CTCF binding sites varies depending on tissue type.
A study published by the European Society of Human Genetics found that genetic testing can identify the cause of childhood epilepsy in half of those studied, allowing for tailored treatments. This breakthrough discovery has the potential to improve treatment possibilities and avoid unnecessary procedures.
Catherine A. Ziats, MD, received the David L. Rimoin Inspiring Excellence Award for her platform presentation on alterations in respiratory epithelial gene SPDEF and severe disease responses to COVID-19 infection. The award recognizes her contributions to advancing our understanding of host genetic factors associated with severe COVID-19.
A new study has identified 32 genes responsible for inherited hearing loss in Israeli Jewish families, including a previously unknown gene mutation. The research provides immediate implications for genetic counseling and personalized treatment options for patients with hearing loss.
Researchers discovered a new gene family critical for forming vertebrate head skeletons and unique traits during embryonic development. The Endothelin signaling pathway allows neural crest cells to proliferate and specialize into different roles throughout the body, making vertebrates distinct from invertebrates.
Scientists have discovered an ancient gene family in Chlamydomonas algae that produces glycerol to protect against salt and cold stress in Antarctica. The gene family is necessary and sufficient for glycerol synthesis, suggesting its ancient origin and importance for survival in extreme environments.
Researchers discovered a single gene family controlling neuron type and function, with each type containing a unique set of homeobox proteins. This finding could provide insights into the evolution of nervous systems in animals, including humans.
A common inherited genetic variant has been identified as a frequent cause of deafness in adults. The RIPOR2 genetic variant is found in thousands of people at risk of developing hearing loss, making it an ideal target for gene therapy. Researchers estimate that up to 30,000 individuals in northern Europe may be affected.
Researchers used the 'gene' theory to predict new families of HTSCs in cubic zinc-blende transition metal compounds. Theoretical analysis showed a d-wave superconducting state with nodes in diagonal directions, breaking time reversal symmetry.
Researchers have identified four novel genes related to glucose metabolism that appear to explain unexplained low blood sugar in at least four families. The discovery may lead to the development of a novel drug against diabetes. However, more studies are needed to confirm the exact functional significance of these genetic mutations.
Researchers identified genes that influence the balance between male and female offspring in mice, affecting male fertility. The study found that removing specific gene families led to skewed sex ratios and male infertility, providing a potential model for understanding sperm production.
Researchers identified a genetic flaw in the ZCCHC8 gene that decreases protein production necessary for maintaining telomere length. This finding may lead to the development of diagnostic markers for inherited 'short telomere' diseases.
A research team has characterized a VQ gene family in strawberries, revealing its relationship to protein transcription factors that regulate stress response genes. This study provides valuable insights into the strawberry's defense mechanisms and opens up possibilities for genetic improvement.
Researchers discovered 12 genes that increase MS risk in families with multiple members affected by the disease. They found a common biological process leading to increased inflammation, paving the way for personalized treatments and preventative strategies.
Researchers have developed a microglia-selective fluorogenic probe that triggers fluorescence through gene expression, enabling selective labeling and imaging of microglia cells in live brain tissue. This probe has the potential to detect developing neural diseases such as Alzheimer's disease and stroke.
Researchers identified a gene defect underlying childhood-onset osteoporosis in two Finnish families and four additional families worldwide. The SGMS2 gene mutation causes changes in bone metabolism and mineralisation, leading to severe short stature and disturbed bone development.
Researchers have identified a mutation in the SLC28A1 gene, affecting the synthesis of the hCNT1 protein and altering pyrimidine metabolism. The study provides insights into the potential role of nucleoside transporters in regulating cellular processes and may lead to new therapeutic approaches for cancer treatment.
A study on a Quebec family with an unusual gene has provided novel insight into how the human brain is built. The research found altered connectivity between dopamine-producing cells and their target sites in the brain, which may link to lower impulsivity traits and reduced likelihood of smoking.
A study found that individuals with a DCC gene mutation had reduced connectivity between brain regions involved in reward processing, leading to less impulsive behavior and lower cigarette smoking. The researchers also observed decreased volume in the striatum, a brain region critical for motivation and pleasure.
A new study from Boston University has identified larger-than-expected families of genes related to the mammalian immune system in the Egyptian fruit bat. This finding may lead to a deeper understanding of virus transmission and better treatments for humans infected with deadly pathogens.
Researchers use an easy-to-use, open-source Galaxy workflow to analyze gene families across species. The GeneSeqToFamily workflow removes complex prerequisites and is customizable, making it accessible to biologists unfamiliar with Compara.
Scientists have identified genetic variants associated with synaesthesia, revealing a connection between genes involved in brain cell wiring and the condition. The study provides new insights into the biology of synaesthesia, a trait that runs in families and can manifest differently in each individual.
Researchers provide direct evidence for the GC-NSF(a) hypothesis, suggesting a mechanism for creating entirely new genes and proteins. The study found that an EntNew protein can be generated from a non-stop frame on the antisense strand of a GC-rich gene.
RefEx is a web tool for comfortable search of reference data in gene expression analysis. It offers extensive collection of gene expression data from human, mouse, and rat tissues/cells measured by four different methods, enabling comparison of gene expression status among tissues/cells and measurement methods.
A study has identified a common gene mutation linked to retinitis pigmentosa in Hispanic families from the Southwestern US, with over 70 genes now known to cause the disease. The researchers found that a dominant mutation in the arrestin-1 gene is responsible for 36% of cases, offering hope for future treatments and therapies.
Scientists have identified two genetic mutations that significantly increase the risk of developing multiple sclerosis. The double gene mutation was found in a large Canadian family with five members diagnosed with MS, revealing new insights into the disease's origins and potential targets for treatment.
Researchers found a link between partial loss of the ANGPTL3 gene and lower cholesterol levels, as well as a reduced risk of coronary artery disease and heart attack. The study suggests that inhibiting ANGPTL3 could lead to new therapies for preventing heart attacks.
A set of genes from the pir gene family is responsible for malaria parasites' ability to persist in the body. The expression of these genes is linked to chronic infection, which can lead to ongoing transmission of the disease.
Scientists identified noncoding mutations that disrupt cooperative function of 'gene families' in Hirschsprung's disease, a rare genetic disorder. The study suggests that dysfunctional gene networks may influence other complex diseases, such as cancer and diabetes.
Scientists have identified new gene families linked to larger neocortex sizes in various mammal species, including humans. The study reveals genes involved in cell signaling and immune response that may contribute to brain development.
Researchers aim to understand the genetics and underlying biological mechanisms that lead to IPF. They will analyze genetic information on over 1,200 families to identify new genes causing the disease.
Researchers identify LOX gene mutations as cause of thoracic aortic aneurysm and dissection in family study, providing biological mechanism and possible therapeutic targets. The discovery illuminates the genetic basis of a rare disease and may lead to improved diagnosis and treatment for patients with this condition.
Researchers have identified a gene mutation that can directly cause the development of multiple sclerosis, a neurodegenerative disease affecting 2 million worldwide. The mutation in NR1H3 gene leads to loss of function of its protein product LXRA, controlling lipid homeostasis and inflammation.
Researchers have identified a key action of a watershed gene crucial to bone formation and the evolution of vertebrates. The Sp7 gene emerged about 400 million years ago, expanding life diversity and programming bone-secreting cells.
A study found that FOXO proteins regulate 46 conserved genes across four species, including metabolism and DNA repair processes. This research provides new guidance on understanding the biology of aging and could lead to the development of interventions to promote health and longevity in humans.
Patients with rare disorders are sharing health information through the MyGene2 web tool, which helps researchers and clinicians identify genetic causes. The tool improves diagnosis and treatment options by connecting patients with similar profiles and providing a platform for data analysis.
The University of Miami study reveals that the KLF/SP gene family expanded and diversified during animal evolution through domain shuffling, gene duplication, and de novo domain evolution. This 'tinkering' process led to an increase in repressor domains, which may have contributed to the development of complex cell types and tissues.
The California two-spot octopus genome was fully sequenced, revealing widespread genomic rearrangements and a dramatic expansion of genes involved in neuronal development. The findings provide an important foundation for evolutionary studies and deeper investigations into the genetic mechanisms underlying cephalopod-specific traits.
A recent comparative genomic study found that specific olfactory receptor genes correlate with ecological niches and behaviors in birds. Specialized skills, such as those in birds of prey or aquatic birds, were mirrored by genetic diversity of their OR gene families.