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1758 artiklar · sida 32 av 71

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Researchers have refined a method to observe mitochondrial DNA replication and gene expression in isolated cellular structures, offering a clearer window into how cells generate energy. The advance could accelerate drug development for mitochondrial diseases and help companies understand cellular dysfunction underlying metabolic disorders.EN

2023-01-01 · METHODS IN MOLECULAR BIOLOGY · ,
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Researchers have identified genetic variants linked to congenital unilateral hearing loss in infants, potentially enabling early detection and intervention. For healthcare systems and diagnostic companies, this opens a pathway to newborn screening programs that could catch preventable hearing damage before it worsens, reducing long-term developmental and educational costs.EN

2023-01-01 · JOURNAL OF CLINICAL MEDICINE · , , et al.
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Researchers have identified chemical tweaks that dramatically boost the effectiveness of experimental huntingtin-targeting therapies. The findings could accelerate development of treatments for this fatal neurodegenerative disease and inform design strategies for similar gene-silencing drugs across other diseases.EN

2023-01-01 · NUCLEIC ACID THERAPEUTICS · , , et al.
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Researchers analyzing two decades of Swedish medical records found that pregnant women with acute hepatic porphyria face significantly elevated risks of severe complications and adverse outcomes. The findings could reshape clinical guidelines for managing this rare metabolic disorder in women of childbearing age, affecting treatment decisions and healthcare resource planning.EN

2023-01-01 · JOURNAL OF INHERITED METABOLIC DISEASE · , , et al.
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Researchers identified a protein signal that mast cells produce in excess during systemic mastocytosis, a rare blood disorder. The finding could enable earlier diagnosis and new drug targets for a disease currently hard to detect, potentially opening a treatment market for biotech companies developing targeted therapies.EN

2023-01-01 · JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY · , , et al.
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Researchers mapped how brain networks coordinate during focused tasks versus downtime, showing distinct patterns of activation and deactivation. Understanding these switching mechanisms could inform treatment for neurological disorders and guide workplace productivity strategies.EN

2023-01-01 · NEUROIMAGE · ,
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Researchers found that genetic differences significantly affect how school children in Rwanda metabolize praziquantel, a widely used treatment for parasitic infections. The discovery could reshape how health programs dose the medication globally, improving effectiveness while reducing side effects in vulnerable populations.EN

2023-01-01 · SCIENTIFIC REPORTS · , , et al.
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Researchers developed a targeted sequencing approach to detect cancer DNA circulating in patient blood, enabling early prognosis prediction for gastro-oesophageal cancers. The finding could reshape clinical decision-making and treatment planning, offering oncologists a non-invasive tool to identify high-risk patients before symptoms worsen.EN

2023-01-01 · CANCERS · , , et al.
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A new study reveals that autism and ADHD share common genetic factors that increase risk for multiple co-occurring physical health conditions—findings that could reshape how clinicians screen and treat these neurodevelopmental disorders. Understanding these genetic links may help identify which patients need preventive care earlier, reducing costly complications.EN

2023-01-01 · MOLECULAR AUTISM · , , et al.
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Researchers tracked outcomes for two competing surgical approaches to treating severe ulcerative colitis—ileorectal anastomosis and ileal pouch-anal anastomosis—in a multicenter study across Sweden and England. The findings could help gastroenterologists and surgeons choose the best reconstruction method for individual patients, potentially reducing complications and improving quality of life for the thousands undergoing colectomy annually.EN

2023-01-01 · BMC SURGERY · , , et al.
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A new study finds that melanoma patients who take metformin for diabetes show improved survival rates compared to those who don't use the drug. The finding could reshape treatment strategies for the roughly 20% of melanoma patients with diabetes, potentially offering a low-cost intervention that extends life.EN

2023-01-01 · BRITISH JOURNAL OF DERMATOLOGY · , , et al.
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Researchers have identified how a protein linked to Alzheimer's disease binds to metabolic enzymes in the cell, potentially opening new drug targets. The discovery could help pharmaceutical companies develop therapies that intercept disease mechanisms earlier, before significant neurological damage occurs.EN

2023-01-01 · JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS · , , et al.
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Scientists combined genetic and protein analysis to track how breast cancers evolve within individual patients, revealing patterns that could improve treatment decisions. The findings suggest doctors may one day predict which tumors will become aggressive, potentially shifting how oncologists personalize therapy and monitor patient outcomes.EN

2023-01-01 · COMMUNICATIONS BIOLOGY · , , et al.
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A new study finds that one dose of the antidepressant escitalopram works nearly as well as a professional therapy session at helping people regulate fear and disgust responses. The finding could reshape how psychiatrists approach acute anxiety and phobia treatment, potentially offering faster relief while reducing pressure on mental health services.EN

2023-01-01 · FRONTIERS IN PSYCHIATRY · , ,
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Researchers have pinpointed a gene that drives cardiac fibrosis—the dangerous scarring of heart tissue after injury or high blood pressure. Blocking this gene in animal models reversed the damage, suggesting a potential new drug target for the millions of heart failure patients worldwide and a significant market opportunity for pharmaceutical developers.EN

2023-01-01 · PHARMACOLOGICAL RESEARCH · , , et al.
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Researchers identified three specific DNA methylation markers associated with depression severity and suicide attempts in adolescents, opening a potential path to biological screening tools. The findings could enable clinicians to identify high-risk patients earlier and inform drug development targeting these epigenetic mechanisms.EN

2023-01-01 · CLINICAL EPIGENETICS · , , et al.
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Researchers found that cerebellar Purkinje cells—critical for movement and coordination—can be completely replaced even in adulthood, challenging decades of neuroscience dogma. The discovery opens pathways for treating neurological diseases and could reshape how the pharmaceutical industry approaches brain cell damage.EN

2023-01-01 · ELIFE · , , et al.
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Researchers tracked health trajectories across Europe for people with achondroplasia, the most common form of dwarfism, offering the first comprehensive picture of disease burden over a lifetime. The findings could reshape clinical care protocols and inform rare disease policy across the continent.EN

2023-01-01 · ORPHANET JOURNAL OF RARE DISEASES · , , et al.
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A Swedish study of hundreds of thousands of children found that antibiotic exposure during pregnancy and early childhood correlated with higher rates of autism and ADHD diagnoses. The finding has implications for pharmaceutical companies, pediatric care protocols, and parents—raising questions about when antibiotics are truly necessary in young children.EN

2023-01-01 · DRUG SAFETY · , , et al.
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Researchers identified a cellular mechanism in Langerhans cell histiocytosis—a rare blood disorder—where abnormal myeloid cells activate natural killer immune cells through changes in how they release proteins. The finding could guide development of targeted treatments for a disease that currently lacks effective therapies and primarily affects children.EN

2023-01-01 · HAEMATOLOGICA · , , et al.
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Scientists identified genetic markers that distinguish the most dangerous Shiga toxin-producing E. coli bacteria responsible for hemolytic uremic syndrome across 24 years of Swedish cases. The findings could help hospitals rapidly identify high-risk infections and guide treatment decisions, potentially reducing severe kidney complications and deaths from contaminated food.EN

2023-01-01 · EUROPEAN JOURNAL OF CLINICAL MICROBIOLOGY & INFECTIOUS DISEASES · , , et al.
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Researchers have identified differences in how autistic brains organize and process information during cognitive tasks, according to a new analysis of functional brain networks. The finding could inform development of better diagnostic tools and interventions, with implications for healthcare systems and educational institutions serving autistic populations.EN

2023-01-01 · FRONTIERS IN PSYCHIATRY · , , et al.
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Researchers tested over 5,000 drugs and compounds to find alternatives for reactivating immune recognition of tumors, but failed completely. The finding confirms that cancer cells escaping immunotherapy largely do so by disabling a single critical pathway—suggesting no easy pharmaceutical shortcut exists for patients with resistant tumors.EN

2023-01-01 · MICROPUBLICATION BIOLOGY · , , et al.
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Researchers have identified that mutations in the ADAMTSL2 gene cause Al-Gazali skeletal dysplasia, a severe bone disorder that represents the most extreme form of related genetic conditions. The finding could enable earlier diagnosis and inform treatment strategies for families carrying this mutation, with implications for genetic testing and rare disease management.EN

2023-01-01 · JOURNAL OF BONE AND MINERAL RESEARCH · , , et al.
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Researchers discovered that crystalline silica particles activate a previously unknown mechanism that damages lung cell DNA, potentially explaining why silica exposure causes cancer and respiratory disease. The finding could reshape how regulators assess workplace silica risks and open new targets for protecting workers in mining, construction, and manufacturing.EN

2023-01-01 · CANCERS · , ,