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Overexpression of FTO alleviates traumatic brain injury induced posttraumatic epilepsy by upregulating NR4A2 expression via m6A demethylation.
Funct Integr Genomics
January 2025
Department of Radiology, The Second Xiangya Hospital of Central South University, No. 139, Renmin Middle Road, Furong District, Changsha City, Hunan Province, 410011, China.
Post-traumatic epilepsy (PTE) is a debilitating chronic outcome of traumatic brain injury (TBI). Although FTO has been reported as a possible intervention target of TBI, its precise roles in the PTE remain incompletely understood. Here we used mild or serious mice TBI model to probe the role and molecular mechanism of FTO in PTE.
View Article and Find Full Text PDFEvaluation of extracts from used Xpert MTB/RIF cartridges for detection of resistance to second-line anti-tuberculosis drugs in patients with multidrug-resistant tuberculosis in Ethiopia.
BMC Microbiol
January 2025
Mycobacteriology Research Center, Institute of Health, Jimma University, Jimma, Oromia, Ethiopia.
Background: Early and accurate diagnosis of drug resistance, including resistance to second-line anti-tuberculosis (TB) drugs, is crucial for the effective control and management of pre-extensively drug-resistant TB (pre-XDR-TB) and extensively drug-resistant TB (XDR-TB). The Xpert MTB/XDR assay is the WHO recommended method for detecting resistance to isoniazid and second-line anti-TB drugs when rifampicin resistance is detected. Currently, the Xpert MTB/XDR assay is not yet implemented in Ethiopia, thus the MTBDRsl assay continues to be used.
View Article and Find Full Text PDFDengue Virus Fusion Peptide Promotes Hemifusion Formation by Disordering the Interfacial Region of the Membrane.
J Membr Biol
January 2025
School of Chemistry, Sambalpur University, Jyoti Vihar, Burla, Odisha, 768 109, India.
Membrane fusion is the first step in the infection process of the enveloped viruses. Enveloped viruses fuse either at the cell surface or enter the cell through endocytosis and transfer their internal genetic materials by fusing with the endosomal membrane at acidic pH. In this work, we have evaluated the effect of the Dengue virus fusion peptide (DENV FP) on the polyethylene glycol (PEG)-mediated lipid mixing of vesicles (hemifusion formation) at pH 5 and pH 7.
View Article and Find Full Text PDFDiscovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.
Am J Hum Genet
January 2025
Genetics Institute, Rambam Health Care Campus, Haifa, Israel; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel. Electronic address:
Pathogenic heterozygous variants in CHD4 cause Sifrim-Hitz-Weiss syndrome, a neurodevelopmental disorder associated with brain anomalies, heart defects, macrocephaly, hypogonadism, and additional features with variable expressivity. Most individuals have non-recurrent missense variants, complicating variant interpretation. A few were reported with truncating variants, and their role in disease is unclear.
View Article and Find Full Text PDFTransport and inhibition of the sphingosine-1-phosphate exporter SPNS2.
Nat Commun
January 2025
Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Sphingosine-1-phosphate (S1P) is a signaling lysolipid critical to heart development, immunity, and hearing. Accordingly, mutations in the S1P transporter SPNS2 are associated with reduced white cell count and hearing defects. SPNS2 also exports the S1P-mimicking FTY720-P (Fingolimod) and thereby is central to the pharmacokinetics of this drug when treating multiple sclerosis.
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