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MuSK regulates neuromuscular junction Nav1.4 localization and excitability.
J Neurosci
January 2025
Carney Institute for Brain Science, Brown University, Providence, RI 02912
The neuromuscular junction (NMJ) is the linchpin of nerve-evoked muscle contraction. Broadly, the function of the NMJ is to transduce nerve action potentials into muscle fiber action potentials (MFAPs). Efficient neuromuscular transmission requires both cholinergic signaling, responsible for generation of endplate potentials (EPPs), and excitation, the amplification of the EPP by postsynaptic voltage-gated sodium channels (Nav1.
View Article and Find Full Text PDFPediatric gallbladder torsion managed by laparoscopic cholecystectomy: a case report and scoping review.
Front Pediatr
January 2025
Department of General Surgery, Children's Hospital of Soochow University, Suzhou, Jiangsu, China.
Gallbladder torsion (GT), characterized by the axial rotation of the cystic duct and cystic artery, is a critical condition that predominantly affects elderly women and is infrequently observed in children. Chronic cholecystitis associated with incomplete GT is a particularly rare phenomenon. This article presents a pediatric case of chronic cholecystitis associated with incomplete GT.
View Article and Find Full Text PDFPathogenic variants in SHROOM3 associated with hemifacial microsomia.
J Hum Genet
January 2025
Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100144, China.
Hemifacial microsomia (HFM) is a rare congenital disorder that affects facial symmetry, ear development, and other congenital anomalies. However, known causal genes account for only approximately 6% of patients, indicating the need to discover more pathogenic genes. Association tests demonstrated an association between common variants in SHROOM3 and HFM (P = 1.
View Article and Find Full Text PDFThe sarcin-ricin loop (SRL) is one of the most conserved segments of ribosomal RNA (rRNA). Translational GTPases (trGTPases), such as EF-G and EF-Tu and IF2, form contacts with the SRL that are critical for GTP hydrolysis and factor function. Previous studies showed that expression of 23S rRNA lacking the SRL confers a dominant lethal phenotype in E.
View Article and Find Full Text PDFTrigeminal nerve microstructure is linked with neuroinflammation and brainstem activity in migraine.
Brain
January 2025
Athinoula A. Martinos Center for Biomedical Imaging, Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02129, USA.
Although the pathophysiology of migraine involves a complex ensemble of peripheral and central nervous system changes that remain incompletely understood, the activation and sensitization of the trigeminovascular system is believed to play a major role. However, non-invasive, in vivo neuroimaging studies investigating the underlying neural mechanisms of trigeminal system abnormalities in human migraine patients are limited. Here, we studied 60 patients with migraine (55 females, mean age ± SD: 36.
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