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Discovery: One of the deleted genes linked to Williams syndrome is responsible for mitochondrial function and regulation in the brain’s nerve cells

Researchers found that the deletion of the Gtf2i gene impairs mitochondrial organelle formation and function, leading to abnormal cell behavior and neurodevelopmental pathologies. This discovery sheds light on the mechanism behind Williams syndrome, a rare genetic disorder characterized by cognitive and social impairments.

SourceTel-Aviv University·JournalCommunications Biology·DateJan 10, 2024

Novel therapeutic target overcomes resistance to radiation therapy

Researchers discovered a novel therapeutic target BAMBI that suppresses immune cells, reducing the effectiveness of radiation therapy and inducing therapy resistance in cancer patients. BAMBI's expression is associated with improved survival rates, suggesting it as a promising approach to overcome radiation therapy resistance.

SourceUniversity of Chicago Medical Center·JournalJournal of Clinical Investigation·TypeExperimental study·DateDec 15, 2023

Revisiting gene dosage

A study by Max Planck researchers has discovered an epigenetic regulator MSL2 that ensures the expression of both alleles of haploinsufficient genes, crucial for human health. This mechanism allows for tissue- and cell-type specificity in gene dosage, opening new directions for understanding diseases and developing potential treatments.

SourceMax Planck Institute of Immunobiology and Epigenetics·JournalNature·TypeExperimental study·DateNov 29, 2023

Quick as a snail

Researchers from Kyoto University found that two species of land snails exhibit opposite behaviors in response to predator-like stimuli. The species K gainesi accelerates its forward movement to escape predators, while its nocturnal relative K editha retreats into its shell.

SourceKyoto University·JournalBehaviour·TypeObservational study·DateNov 23, 2023

Cancer's sweet Achilles heel

A team of researchers at Kyoto University has found that a deficiency in the enzyme B4GALT3 inhibits tumor growth in mice. The study shows that reduced glycosylation on T cell surfaces correlates with increased CD8+ immune cells infiltrating tumors.

SourceKyoto University·JournalFrontiers in Immunology·TypeExperimental study·DateOct 25, 2023

Roots of Bloody Mary

Scientists have identified a bacterial strain that can break down the toxic tomatine in tomato roots, providing new understanding of how soil microbes interact with plants. This discovery could lead to the development of new bioactive compounds for human applications.

SourceKyoto University·JournalmBio·TypeExperimental study·DateOct 5, 2023

RESEARCH ALERT: City of Hope scientists unravel how TET2 gene deficiency fuels development of acute myeloid leukemia

Researchers identified how low TET2 levels fuel rapid growth of acute myeloid leukemia in animal models. The study found that TET2 deficiency sets off biochemical changes enhancing the cancer's ability to spread. This discovery highlights potential therapeutic targets for treating aggressive bone marrow cancer.

SourceCity of Hope·JournalCell Stem Cell·TypeExperimental study·DateAug 17, 2023

Motivation and pleasure deficits play important role in social functioning across psychiatric disorders

A recent study published in Nature Mental Health reveals that amotivation and anhedonia are key factors in determining social functioning among individuals with psychiatric disorders. The research found that these negative symptoms have a stronger impact on social functioning than expressive dysfunction, especially in patients with sch...

SourceChinese Academy of Sciences Headquarters·JournalNature Mental Health·TypeExperimental study·DateJul 27, 2023

Young kids may learn to identify dog aggression with age and experience

A study published in PLOS ONE found that children's ability to recognize dog emotions, especially aggression, improves with age. Four-year-olds were less able to recognize aggressive dog expressions than six-year-olds and adults. As children grow older and gain experience with dogs, they become better at reading canine facial expressions.

SourcePLOS·JournalPLOS ONE·TypeExperimental study·DateJul 26, 2023

Food size matters

A study by Kyoto University found that Daphnia's phenotypic plasticity is strongly related to its body size and the type of predator. Medium-sized Daphnia are more vulnerable to predation by both Chaoborus larvae and fish, which prefer larger prey.

SourceKyoto University·JournalFreshwater Biology·TypeMeta-analysis·DateJul 19, 2023

Antipsychotic drugs work differently than scientists believed

Researchers at Northwestern University discovered that antipsychotic drugs interact with a different neuron type than scientists originally believed, which could lead to better treatments for schizophrenia. The study's findings suggest that the effect of antipsychotics on dopamine receptors has little bearing on their efficacy in humans.

SourceNorthwestern University·JournalNature Neuroscience·TypeExperimental study·DateJul 18, 2023

Mutant KRAS regulates Y chromosome gene in colorectal cancer, driving metastasis and inhibiting anti-tumor immunity

A preclinical study has uncovered the role of Y chromosome gene KDM5D in regulating anti-tumor immune responses and promoting metastasis in male patients with KRAS-mutated colorectal cancer. The study reveals that mutant KRAS drives upregulation of KDM5D, leading to reduced cell adhesion and immune recognition by the immune system.

People who preserve ‘immune resilience’ live longer, resist infections

A multinational study identified immune resilience as a critical factor influencing life span, HIV/AIDS, flu, sepsis mortality, recurrent skin cancer, and COVID-19 mortality. Individuals with optimal levels of immune resilience were more likely to resist infections and recover from inflammatory stressors.

SourceUniversity of Texas Health Science Center at San Antonio·JournalNature Communications·TypeMeta-analysis·DateJun 13, 2023

Studying partial remission of type 1 diabetes in children: New biomarkers and the immunoregulatory role of microRNA

A study has identified new microRNA biomarkers for the partial remission phase of type 1 diabetes and linked one of these microRNAs to immunoregulatory processes. The findings suggest a unique microRNA signature expression during this phase, which modulates regulatory T cell expansion and PD-1 expression.

SourceGermans Trias i Pujol Research Institute·JournalNon-Coding RNA·TypeExperimental study·DateMar 6, 2023

Pusan National University researchers uncover novel gene that regulates leukemia development and progression

Pusan National University researchers have identified a novel gene, SURF4, that regulates cell death and differentiation in acute myeloid leukemia (AML). The study found that suppressing SURF4 expression increases cell differentiation, cell death, and accumulation of ROS, leading to arrested tumor growth in mice.

SourcePusan National University·JournalCancer Communications·TypeExperimental study·DateJan 31, 2023

Aging | Genetic deficiency and pharmacological modulation of RORα regulate laser-induced choroidal neovascularization

In a mouse model of laser-induced CNV, RORα expression was highly increased in the choroidal/RPE complex post-laser, while loss or inhibition of RORα worsened CNV with increased lesion size and vascular leakage. RORα negatively regulates pathological CNV development by modulating angiogenic response and inflammatory environment.

SourceImpact Journals LLC·JournalAging-US·TypeObservational study·DateJan 18, 2023

Aging | Transcriptomic analysis of human ALS skeletal muscle reveals a disease-specific pattern of dysregulated circRNAs

A new study has identified distinct patterns of circular RNA expression in human ALS muscle tissue, which display disease-specific gradients and could inform about neuromuscular molecular programs in ALS. The research reveals that specific circRNAs are elevated in ALS muscle biopsies but reduced in spinal cord samples from ALS patients.

SourceImpact Journals LLC·JournalAging-US·TypeObservational study·DateJan 12, 2023

Oncotarget | Serum microRNAs as new criteria for referral to early palliative care services in treatment-naïve advanced cancer patients

Researchers developed predictive models using serum microRNAs to identify patients at risk of requiring early palliative care. The study used serum samples from 178 patients with various types of cancer and found that miRNA-based models had higher accuracy than clinical models in predicting referral to a palliative care unit.

SourceImpact Journals LLC·JournalOncotarget·TypeObservational study·DateDec 29, 2022

Genes & Cancer | Systems biology network reveals the correlation between COX-2 expression and Ch 7q copy number alterations in Ch 11q-deleted pediatric neuroblastoma tumors

Researchers analyzed COX-2 levels and segmental chromosome aberrations in pediatric neuroblastoma tumor samples. Positive correlations between pre-CT Ch 7q gain and COX-2 expression were found, as well as negative correlations between Ch 7q gain and Ch 11q deletion.

SourceImpact Journals LLC·JournalGenes & Cancer·TypeData/statistical analysis·DateDec 16, 2022

A new therapeutic target for the prevention of heart failure due to aortic stenosis

A new gene therapy approach has been developed to boost the expression of the beta-3 adrenergic receptor in heart cells, improving mitochondrial function and preventing or reversing heart failure in a mouse model of aortic stenosis. This could potentially provide new therapeutic options for patients with this condition.

SourceCentro Nacional de Investigaciones Cardiovasculares Carlos III (F.S.P.)·JournalBasic Research in Cardiology·TypeExperimental study·DateNov 30, 2022