Researchers have identified shared genetic links between disturbed sleep, neurodevelopmental and neuropsychiatric conditions. Polygenic scores for certain conditions are associated with chronotype and insomnia, suggesting potential new therapies.
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The study found that programmed cell death is a prerequisite for sperm release in liverworts. MpMLO1 protein increases cytoplasmic Ca2+ levels and induces PCD, allowing sperm to enter the antheridial pore for fertilization.
Researchers have made progress in understanding how mosaic embryos, comprising both normal and abnormal cells, self-correct to develop normally. This knowledge will help increase the number of suitable embryos for transfer in women undergoing IVF, reducing stress and improving pregnancy outcomes.
Mosaic embryo transfers from a large-scale study showed only 1.2% of preimplantation mosaicism persisted throughout pregnancy or postnatally. Researchers identified the mechanism behind self-correction, enabling better IVF outcomes for women with mosaic embryos.
A new study from the University of Lausanne reveals that both high and low levels of the AFF3 protein can lead to severe intellectual deficits and developmental disorders. The research, led by Alexandre Reymond, identifies a critical role for the gene in development and highlights the importance of precise dosage.
Researchers have found that approximately one in 40 human bone marrow cells carry massive chromosomal alterations without causing any apparent disease or abnormality. Cell samples from people over 60 tend to have higher numbers of cells with such genomic alterations, suggesting a possible connection to ageing-related diseases.
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The study highlights the importance of protease-activated receptors (PARs) in cancer growth and development, with PH-binding motifs identified as a key platform for drug design. The researchers suggest that targeting PARs could provide an alternative to current oncogenic pathways.
Studies led by the University of Texas at Austin researchers found that bird song and human voice share a common genetic link, with the syrinx and larynx having similar developmental programming. This discovery highlights the shared ancestry between birds and humans in terms of vocal organ structure.
A UCLA Health study has unveiled the link between genetic risk of autism and observed cellular activity in the brain. Researchers analyzed post-mortem brain tissue from 66 individuals, including those with autism spectrum disorder, to identify changes in cortical cell types and transcription factor networks.
A recent study has cataloged gene-isoform variation in the developing human brain, providing crucial insights into neurodevelopmental and psychiatric disorders. The research found thousands of isoform switches that occur during brain development, implicating previously uncharacterized RNA-binding proteins.
Researchers identify REF1 as a key local wound signal governing plant regenerative responses. Its application has improved transformation efficiency in crops like soybeans and wheat.
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Researchers created a genetic atlas using Caenorhabditis elegans to understand embryonic development and its relation to human disorders. The study analyzed nearly 7,000 gene functions and identified new roles for poorly characterized genes.
Researchers at Clemson University discovered that certain Neanderthal-derived genetic variations are more common in people with autism than in the general population. These findings suggest long-term effects of ancient human hybridization on brain organization and function, potentially leading to earlier diagnostics.
Researchers have identified over 2000 protein-coding genes that change significantly between summer and winter in the starfish's reproductive process. This study provides a promising breakthrough in understanding how crown-of-thorns starfish communicate during reproduction, which could lead to the development of natural pest control me...
Researchers found a correlation between genetic variations in three telomere-related genes and an increased risk of developing papillary thyroid cancer. The study suggests that individuals with these variants may benefit from closer monitoring for secondary cancers, and highlights the role of long telomeres in cancer development.
A new atlas of early brain development has been created, allowing researchers to understand the genetic processes behind brain tumor formation in children. The study's findings may lead to new treatments for this rare but deadly disease.
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Researchers found a genetic link between higher circulating levels of arachidonic acid and lower risk for bipolar disorder. The study suggests that altering arachidonic acid synthesis pathways may reduce bipolar disorder risk, particularly in those with compromised pathways.
Researchers identified a genetic link between higher levels of arachidonic acid and lower risk of bipolar disorder. Arachidonic acid, found in meat, seafood, and human milk, may hold potential for lifestyle or dietary interventions to prevent or treat the condition.
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 used medaka fish, CRISPR and new imaging techniques to study embryonic mitosis. They discovered unique spindles assemble in early embryos and found Ran-GTP plays a decisive role in spindle formation, which diminishes later in development. The study paves the way for further exploration of embryonic mitosis.
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Researchers assessed swimming performance and survival under stress to evaluate the effects of three compounds on health and lifespan in Caenorhabditis. The study found complex relationships among median lifespan, oxidative stress resistance, thermotolerance, and mobility vigor.
A recent study published in Nature Cell Biology found that increased hydrostatic pressure can hinder the healthy development of neural crest cells, leading to an increased risk of facial malformations. The researchers suggest that physical cues in the womb, such as pressure, may play a role in shaping facial features.
Researchers have identified a rare genetic condition, Glutamine Synthetase Stabilization Disorder, which causes seizures and delayed development. The study found that genetic variants increase the stability of an enzyme producing glutamine, disrupting brain development.
A tailored dexamethasone/glucocorticoid receptor (DEX/GR) system enables precise control over exogenous gene expression, facilitating detailed functional analyses and insights into plant regeneration.
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Individuals at high genetic risk of obesity needed higher daily step counts to reduce obesity risk. Population-based recommendations may underestimate physical activity needed among those at high genetic risk.
Researchers developed an Integrated Classifier Pipeline (ICP) tool to analyze CRISPR edit outcomes and track unintended 'bystander' edits. The ICP system provides a genetic fingerprint of how material is being inherited, helping scientists untangle complex biological issues.
A new study found that a 'courtship' gene has different effects in two fruit fly species. In one species, giving females the gene resulted in them adopting male behaviors, while in another, it enabled them to produce both male and female songs. The findings suggest that genes can have varying functions across different species.
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Research suggests that early-life tobacco exposure significantly increases the risk of developing Type 2 diabetes in adulthood, particularly for individuals with a high genetic risk. Lifestyle factors such as diet, exercise, and smoking habits may modify this risk, emphasizing the importance of healthy lifestyle choices.
The study reveals that a gene called mTOR, which works like a GPS, directs the specialization of liver cells according to their position. After birth, the fluctuation in nutrient supply triggers the activation of this gene, completing the maturation of the liver.
A study led by Leopold Eckhart found that the genetic programme controlling keratinized claws originated in a common ancestor of humans and frogs. The research team used the tropical clawed frog as an experimental model and discovered that important hair components, including keratins, share similarities with human hair.
A team of scientists at Pohang University of Science & Technology uncovered the molecular mechanism responsible for crossover interference during meiosis, a biological process that generates genetically diverse reproductive cells. The findings have significant implications for breeding and cultivating crops with specific desired traits.
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A genome-wide meta-analysis study found that early vocabulary size is genetically linked to ADHD, literacy and cognitive abilities in children. The study used data from over 17,000 English-, Danish- or Dutch-speaking children and identified multiple genetic factors underlying vocabulary size in infancy and toddlerhood.
Researchers have characterized the rapid series of events transforming a fertilized cell into a living being, highlighting rapid changes in genetic activity post-birth. The study's findings underscore the speed at which newborns must adapt to extrauterine life and offer insights into long-term physiology and health outcomes.
Researchers identified three distinct genomic dimensions related to autism features, including language performance and developmental motor delay. These dimensions suggest different underlying mechanisms contributing to neurodiversity in individuals with autism.
Researchers developed scSNV-seq to investigate genetic changes affecting gene activity and disease development. The technique accurately assesses the impact of thousands of DNA mutations in cells, providing crucial insights for developing targeted therapies.
Researchers at the University of São Paulo analyzed data from 115 children with syndromic growth disorders and found a high incidence of overlapping genetic alterations. The study highlights the importance of genetic sequencing in accurate diagnosis and treatment.
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A recent study has uncovered 145 genes crucial for genome stability, shedding light on genetic factors influencing human health over a lifespan. The research highlights the potential of SIRT inhibitors as a therapeutic pathway for cohesinopathies and other genomic disorders.
A study published in Oncotarget has identified specific mutational and therapeutic landscapes of pancreatic cancer in the Russian population. By applying machine learning models to full exome individual data, researchers received personalized recommendations for targeted treatment options for each clinical case.
Scientists used new techniques to analyze gene activities during mouse prenatal development, revealing hundreds of cell types and their formation. The study showed that massive transcriptional changes occur at birth, potentially necessary for survival outside the womb.
A study by Brazilian researchers reveals that bixin, a carotenoid pigment extracted from annatto tree seeds, is also present in other organs. Genetic analysis and modifications found increased production of the pigment in the adult phase and linked to stress-related hormone abscisic acid.
Researchers have discovered 23 genetic associations with kidney function and uric acid levels in men and women, revealing sex-specific differences in gene regulation. These findings may help explain why chronic kidney disease progresses faster in men and is more common in women.
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Scientists have identified a vulnerability in our genomes that can cause developmental defects, such as extra fingers and heart disorders. By analyzing genomic sequences and enhancer variants, researchers found that single-letter changes to the DNA within our genomes can dramatically affect gene expression.
Researchers have identified two genetic factors, LSH1/LSH2, that promote the production of specialized root cells required for nitrogen-fixing bacteria to thrive in legumes. This discovery brings us closer to engineering non-legume crops to develop root nodule organs and reduce our reliance on industrial nitrogen fertilizers.
A rare disorder causing extra fingers and toes has been identified through research led by the University of Leeds, linked to a genetic mutation in the MAX gene. The study found a molecule that could potentially treat neurological symptoms associated with the condition.
Researchers used CRISPR to modify a tomato gene, resulting in reduced water consumption without affecting crop quality. The discovery holds implications for basic scientific knowledge and could help increase plant yields in dry conditions.
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A study reveals thyroid cancer's genetic changes contribute to resistance to BRAF inhibitors and can lead to tumor dedifferentiation. Researchers identify potential targets for new therapies, including dual-targeted treatments and immunotherapy combinations.
A multisite clinical trial will evaluate repurposed FDA-approved drugs as treatment options for patients with Rett syndrome, a rare genetic neurodevelopmental disorder affecting brain development. The study aims to find new therapies to improve the lives of individuals with Rett syndrome, potentially providing multiple treatment options.
The study identifies FAM53C as a cytosolic-anchoring inhibitory binding protein of the kinase DYRK1A, regulating its activity and cellular location. This finding may provide potential clinical insights into treating Down syndrome and related diseases.
A new genetic atlas details the gene expression programs that drive zebrafish development, revealing insights into human embryonic growth and the origins of diseases such as gastrointestinal disorders. The atlas provides a comprehensive resource for studying cell development and differentiation in vertebrates.
Researchers have created the first extensive map showing which genetic changes can cause disease, leading to valuable insights into neurodevelopmental disorders and cancer. The study reveals that 90% of previously unexplained genetic changes' impact on health is significant, promising speedier diagnosis and new treatment avenues.
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Scientists unveiled a spatial cell atlas of the entire developing human limb, capturing intricate processes governing rapid development. The study uncovers new links between developmental cells and congenital limb syndromes, such as short fingers and extra digits.
A comprehensive genetic analysis of modern and ancient individuals suggests that Bantu-speaking populations originated in western Africa and expanded south and east in several waves. The study identifies key crossroads of interaction between different routes of expansion in Zambia and the Democratic Republic of Congo.
A study at Uppsala University found that infant face preference is influenced by genes and linked to later language development. The researchers analyzed over 500 infant twins and found that individual infants' preferences for faces could be largely explained by their genetics.
A new study has uncovered the molecular causes of a rare developmental brain condition in children, known as Autosomal Recessive ACBD6-related disorder. The research team identified defects in the acyl-CoA-binding domain-containing protein 6 (ACBD6) gene as the underlying cause, leading to delays in cognitive and motor skills development.
Researchers discovered a 'genomic tug of war' between decitabine and H2A.Z in animal studies, which could influence how well patients respond to decitabine. High levels of H2Z may help cancer cells overcome this effect, allowing them to grow.
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Researchers successfully produced alstonine, a naturally occurring substance with potential for treating mental disorders, using genetically engineered yeast cells. The yeast platform has the potential to discover and develop plant-based medicines, including those for schizophrenia.
A new study analyzing lice genetic diversity found that head lice arrived in the Americas twice – once with early human migrants and again during European colonization. This discovery supports existing theories on human migration and provides insights into how lice have evolved alongside humans.
Researchers found gene signatures associated with head development in juvenile sea stars, but expression of torso and tail genes were largely missing. The study suggests that over evolutionary time, sea stars lost their bodies to become only heads.
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Researchers developed a mouse model with human-like telomeres by making a single genetic alteration, providing a valuable resource for studying aging and cancer. The discovery highlights the importance of the RTEL1 protein in determining telomere length.
Researchers found changes in microglial cells, a specialized subset of immune cells, that may worsen schizophrenia risk in adolescents. The study, published in Nature Communications, suggests that THC exposure during adolescence can lead to long-lasting negative effects on brain development and function.