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Unraveling Mechanisms of Genetic Risks in Metabolic Dysfunction-Associated Steatotic Liver Diseases: A Pathway to Precision Medicine.
Annu Rev Pathol
January 2025
MASLD Research Center, Division of Gastroenterology, University of California at San Diego, La Jolla, California, USA; email:
Metabolic dysfunction-associated steatotic liver disease (MASLD) is a growing global health problem, affecting ∼1 billion people. This condition is well established to have a heritable component with strong familial clustering. With the extraordinary breakthroughs in genetic research techniques coupled with their application to large-scale biobanks, the field of genetics in MASLD has expanded rapidly.
View Article and Find Full Text PDFPhenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families.
Neurogenetics
January 2025
Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.
The cytoskeleton, composed of microtubules, intermediate filaments and actin filaments is vital for various cellular functions, particularly within the nervous system, where microtubules play a key role in intracellular transport, cell morphology, and synaptic plasticity. Tubulin-specific chaperones, including tubulin folding cofactors (TBCA, TBCB, TBCC, TBCD, TBCE), assist in the proper formation of α/β-tubulin heterodimers, essential for microtubule stability. Pathogenic variants in these chaperone-encoding genes, especially TBCD, have been linked to Progressive Encephalopathy with Brain Atrophy and Thin Corpus Callosum (PEBAT, OMIM #604,649), a severe neurodevelopmental disorder.
View Article and Find Full Text PDFApplication of modified solidified soil in in-situ backfilling of coal gangue: evaluation of arsenic stabilization effect and mechanism study.
Environ Geochem Health
January 2025
School of Chemical & Environmental Engineering, China University of Mining and Technology-Beijing, Beijing, 100083, China.
As a typical ecologically fragile area, the Wudong Coal Mine region in Xinjiang generates large accumulations of coal gangue each year, which, in the alkaline soil environment, can easily lead to significant leaching and accumulation of As. This study developed a stabilizer (CFD) using cement, fly ash, and desulfurized gypsum to modify in-situ soil in the Xinjiang mining area, resulting in a modified solidified soil with excellent geotechnical performance and As stabilization capability. The study results showed that when CFD content exceeded 14.
View Article and Find Full Text PDFThe Potential Role of Toxoplasma gondii Infection in Multiple Sclerosis Development: A Seroepidemiological Study in North Khorasan Province, Iran.
Acta Parasitol
January 2025
Vector-borne Diseases Research Center, North Khorasan University of Medical Sciences, P.O. Box: 9453155166, Bojnurd, Iran.
Pourpose: This study aimed to investigate the seroepidemiological status of Toxoplasma gondii (T. gondii) infection in Multiple Sclerosis (MS) patients compared to controls.
Methods: The present study included 98 MS patients and 100 controls.
Predictive signatures of immune response to vaccination and implications of the immune setpoint remodeling.
mSphere
January 2025
Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
In 2020, I featured two articles in the "mSphere of Influence" commentary series that had profound implications for the field of immunology and helped shape my research perspective. These articles were "Global Analyses of Human Immune Variation Reveal Baseline Predictors of Postvaccination Responses" by Tsang et al. (Cell 157:499-513, 2014, https://doi.
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