Articles tagged with Pathogenesis
Dr. Anthony Shum, MD, receives $80,000 from the ATS Research Program and chILD Foundation for his project on defining childhood ILD in COPA syndrome. The study aims to link the innate immune adapter molecule STING to disease.
Victoria Blaho, Ph.D., assistant professor at Sanford Burnham Prebys, received the first-ever Lina M. Obeid Award for her work on sphingolipids and their role in immune function, cancer, neurodegeneration, metabolic disorders, and cardiovascular disease.
Researchers used machine learning to analyze mitochondrial interaction networks and identified specific patterns associated with Parkinson's disease. These patterns were correlated with clinical scores and allowed for accurate diagnosis of PD patients.
Chinese researchers discovered a link between liquid-liquid phase separation and human developmental disorders like Noonan syndrome. Gain-of-function mutations in the SHP2 protein lead to hyperactivation of downstream signaling pathways, providing a therapeutic strategy for targeting SHP2-associated disorders.
A study published by researchers from the Turku Bioscience Centre found changes in circulating molecules in the blood that may be new markers of type 1 diabetes. This discovery could provide an early window for intervention and prevention of the disease.
Studies in mouse models reveal that deficiencies in ADAMTS13 and complement activation contribute to thrombotic microangiopathy, a potentially deadly condition. The findings may lead to the development of novel treatment strategies for patients with refractory thrombotic microangiopathy.
Researchers discovered that the 'Australian' familial mutation in the APP TM domain leads to increased production of pathogenic amyloid-β peptides, resulting in neurodegenerative disorder. The study provides insight into a potential mechanism of Alzheimer's disease pathogenesis.
Researchers at the George Washington University found dermcidin, an antimicrobial peptide, is downregulated in hidradenitis suppurativa skin, suggesting its role in disease pathogenesis. The study suggests multiple biological pathways are disrupted in HS, warranting further investigation into new therapeutic options.
Dorothee Dormann's work reveals similarities in ALS and FTD pathogenesis, highlighting the role of protein FUS in disease progression. Her research aims to identify molecular targets for therapy and explore common mechanisms with other neurodegenerative diseases.
Three Penn researchers, Elizabeth Grice, Vijay Bhoj, and Kara Maxwell, have been awarded $1.9 million in Burroughs Wellcome Fund grants to investigate skin microbiome functions and CAR T-cell immunotherapy for Hemophilia A. The grants aim to advance our understanding of human infectious diseases and cancer research.
A murine model has been developed to study the mechanisms of reverse cardiac remodeling, a process where the heart returns to its normal structure and function after injury. The model shows that normalization of left ventricle structure and function is accompanied by improved cardiac myocyte function and reduced expression of genes ass...
Researchers identified a strong association between an East-Asian specific mutation and increased risk of wet AMD, highlighting the importance of HDL metabolism in the disease's pathogenesis. The study also uncovered three new genes linked to AMD for the first time.
Overexpression of Notch1 in temporal lobe epilepsy is associated with reduced seizure frequency and brain discharges. The study found increased presence of Notch 1 and hairy and enhancer of split-1 in intractable temporal lobe epilepsy patients, suggesting potential therapeutic targets for treating the condition.
Research suggests that impaired inhibition of medium spiny neurons in the nucleus accumbens contributes to childhood depression. The study found that nomifensine can alleviate depressive behaviors by reducing neuron membrane excitability.
The study found that overexpression of Notch1 in temporal lobe epilepsy rats reduced seizure frequency and brain discharges. Increased presence of Notch 1 and hairy and enhancer of split-1 was observed in intractable temporal lobe epilepsy patients, suggesting a potential role for Notch signaling in the disease.
A study published in Neural Regeneration Research found that genetic diagnosis is crucial in ruling out Huntington's chorea. The analysis incorporated clinical symptoms, imaging examinations, and gene diagnosis, suggesting that a combination of these factors is necessary for an accurate diagnosis.
A study published in Neural Regeneration Research found that PD-L1 is significantly increased in the spinal cord and infiltrating lymphocytes of mice with experimental allergic encephalomyelitis, a model for multiple sclerosis. This suggests that PD-L1 may play a role in the pathogenesis of multiple sclerosis.
The new open access journal Pathogenesis will publish peer-reviewed original research and high-quality reviews in various areas of pathology. It aims to provide a platform for researchers and clinicians to share their work quickly and widely, promoting excellence in pathology.
Researchers found that changes in occludin and connexin 43 expression are consistent with the development of brain edema, reflecting its pathogenesis. The study's findings may lead to better treatments for intracranial diseases.
Kashin-Beck disease (KBD) and Keshan disease (KD) are major endemic diseases in China, with significant alterations in chondrocyte phenotype, necrosis, and apoptosis in KBD. The study identified 16 genes showing differential expression in both diseases, including nine with synchronous and seven with asynchronous expression.
A recent study published in PLoS One reveals that impaired autophagy is linked to age-related macular degeneration, a leading cause of visual impairment. The researchers found that the lysosomal clean-up mechanism, or autophagy, plays a crucial role in clearing harmful protein accumulations behind the retina, which lead to vision loss.
A Chinese research team found strong genetic evidence linking mevalonate kinase gene (MVK) mutations to disseminated superficial actinic porokeratosis (DSAP), a rare skin disorder. MVK mutations were not detected in other clinical subtypes of Porokeratosis, suggesting they may be specific to DSAP patients.
Researchers have identified a novel mechanism by which Bartonella bacteria manipulate host cell signaling, prolonging cell lifespan and contributing to chronic infection persistence. The study reveals the role of protein BepA in binding adenylyl cyclase, leading to increased cAMP production and preventing host cell death.
Alison K. Criss, a young investigator at the University of Virginia, receives the ICAAC Young Investigator Award for her outstanding research on bacterial pathogenesis. Her work focuses on the interactions between Neisseria gonorrhoeae and host cells, with implications for understanding bacterial evasion mechanisms.
Researchers have identified a distinct population of immune cells that contribute to the pathogenesis of type 1 diabetes by helping CD8+ T cells elicit autoimmune responses in the pancreas. This subset of CD4+ T cells produces IL-21 and express CCR9, playing a critical role in autoimmune disease.
Researchers identified a key molecular switch that drives the onset of Huntington's disease, an incurable neurodegenerative disorder. A subtle change in two amino acids reduced the pathogenic potential of the mutant protein, potentially leading to new treatment strategies.
Researchers at NYU Langone Medical Center have discovered a new targeted intervention for Barth Syndrome, a genetic disorder causing heart and muscle failure in children. The study identified iPLA2-VIA as a potential target for therapeutic intervention, showing promise for treating the disease.
A vaccine for tularemia, caused by Francisella tularensis, is being developed as the disease's potential as a bioterrorism agent has increased. Researchers have made progress in understanding the bacterium's pathogenesis and identifying potential targets for a vaccine.
Researchers uncover how ATM mutations cause neurodegeneration in Ataxia telangiectasia by preventing neurons from re-entering the cell cycle. This finding holds promise for developing new treatments for A-T and other neurodegenerative disorders.
Researchers identified how toxic protein plaque accumulates in the brain of people with Alzheimer's disease. The study found that endocytosis plays a crucial role in transporting amyloid precursor protein into neurons, leading to A
A new animal study suggests small intestinal bacteria overgrowth (SIBO) contributes to nonalcoholic fatty liver disease (NASH) pathogenesis. Treatment with cidomycin alleviates NASH severity by lowering serum ALT, AST, and TNF-α levels.
Researchers found that IETM is the arch-criminal in HPS development, leading to increased NO and CO production and vascular abnormalities. The study suggests that targeting LPS may be effective in preventing and treating HPS.
Researchers have identified a key antigen underlying Crohn disease, bacterial flagellin, which triggers an immune response. Studies found high reactivity against specific flagellins in CD patients, but not in controls or ulcerative colitis patients, providing new leads for causal antigens.