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Tuberous Sclerosis Complex (TSC) is a severe developmental disorder with various clinical effects, primarily caused by TSC2 gene mutations, often involving loss of function(Henske,et al., 2016).To explore role of TSC2 in human heart development, we successfully developed a TSC2 knockout (TSC2-/-) human embryonic stem cells (hESCs) line using CRISPR/Cas9 gene editing. This TSC2-/- hESC line maintained a normal karyotype, expressed pluripotency markers strongly, and could differentiate into all three germ layers in vivo. This cell line will be a valuable tool for future research on the role of TSC2 in heart development.
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http://dx.doi.org/10.1016/j.scr.2024.103399 | DOI Listing |
J Cell Immunol
January 2025
University of Cincinnati College of Medicine, Division of Pulmonary, Critical Care and Sleep Medicine, Department of Internal Medicine, PO Box 45267-0564, Cincinnati, OH 45267, USA.
Lymphangioleiomyomatosis (LAM) is a rare, female-dominated pulmonary cystic disease. Cysts that develop in LAM are characterized by the presence of smooth muscle-like (LAMCore) cells in the periphery. These cells harbor mutations in or (), driving uncontrolled proliferation through the mTORC1 pathway.
View Article and Find Full Text PDFSci Prog
June 2025
Functional Neurosurgery Department, National Children's Health Center of China, Beijing Children's Hospital, Capital Medical University, Beijing, China.
ObjectiveEpileptogenic tubers (ETs) contribute to the epileptogenesis in patients with tuberous sclerosis complex (TSC). High mobility group protein B-1 (HMGB1) triggers inflammatory responses that impact neuronal electrical activity. We aimed to study the role of HMGB1 in epileptogenicity in TSC-related epilepsy.
View Article and Find Full Text PDFJ Hazard Mater
August 2025
State Key Laboratory of Swine and Poultry Breeding Industry/College of Animal Science, South China Agricultural University/National Engineering Research Center for Breeding Swine Industry/Guangdong Laboratory for Lingnan Modern Agriculture/Guangdong Provincial Key Laboratory of Animal Nutrition Cont
Deoxynivalenol (DON) is a chemically stable mycotoxin with a slow natural degradation rate. Consumption of DON-contaminated food and feed poses significant health risks to human and livestock, leading to reduced productivity and substantial economic losses. The functionality of intestinal stem cells (ISCs) are compromised following sustained intracellular deoxynivalenol (DON) stress.
View Article and Find Full Text PDFCell Commun Signal
May 2025
Advanced Center for Chronic Disease (ACCDiS), Departamento de Bioquímica y Biología Molecular, Facultad de Ciencias Químicas y Farmacéuticas & Facultad de Medicina, Universidad de Chile, Santiago, Chile.
Introduction: Cardiac mitochondrial function is intricately regulated by various processes, ultimately impacting metabolic performance. Additionally, protein turnover is crucial for sustained metabolic homeostasis in cardiomyocytes.
Objective: Here, we studied the role of mTOR in OPA-1 cleavage and its consequent effects on mitochondrial dynamics and energetics in cardiomyocytes.
Mol Cell
June 2025
Shenzhen Key Laboratory for Systemic Aging and Intervention (SKL-SAI), Shenzhen Key Laboratory of Anti-Aging and Regenerative Medicine (SKL-ARM), Guangdong Provincial Key Laboratory of Genome Stability and Disease Prevention, Marshall Laboratory of Biomedical Engineering, International Cancer Center
The mechanistic target of rapamycin (mTOR) serves as an essential hub in sensing metabolic stress and regulating aging, although the differential contributions of mTOR-regulated protein and cholesterol synthesis are unclear. Post-transcriptional modifications of mRNAs, such as N6-methyladenosine (m6A), occur rapidly in response to acute environmental changes to maintain tissue homeostasis. Here, we showed that loss of YTH m6A RNA-binding protein 1 (YTHDF1) accelerated murine aging.
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