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MuSK regulates neuromuscular junction Nav1.4 localization and excitability.
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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.
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A previously healthy female infant was brought to the paediatrics outpatient department by her mother reporting increased irritability and swelling behind her left shoulder, accompanied by restricted movement in her left arm. The irritability had been present for the past 5 months, with swelling also noticed at that time, gradually increasing in size. On examination, a large, firm, immobile mass was detected on the left scapular region.
View Article and Find Full Text PDFMonostotic femoral Caffey disease masquerading as Ewing sarcoma.
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- A baby had a rare condition called Caffey disease that caused swelling in their left thigh after getting vaccinated.
- Doctors did tests and saw that the baby didn’t have a real tumor, but rather a reaction in the bone.
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Ocular and orbital tumors in childhood.
Clin Dermatol
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Department of Dermatology, University of Connecticut School of Medicine, Farmington, Connecticut, USA; Department of Dermatology, University of Florida College of Medicine, Gainesville, Florida, USA. Electronic address:
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- * Most pediatric eye tumors, like dermoid cysts and chalazia, are benign but can still cause serious health issues due to their location.
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The MuSK-BMP pathway regulates synaptic Nav1.4 localization and muscle excitability.
bioRxiv
October 2023
Carney Institute for Brain Science, Brown University, Providence, RI 02912.
The neuromuscular junction (NMJ) is the linchpin of nerve-evoked muscle contraction. Broadly considered, the function of the NMJ is to transduce a nerve action potential into a muscle fiber action potential (MFAP). Efficient information transfer requires both cholinergic signaling, responsible for the generation of endplate potentials (EPPs), and excitation, the activation of postsynaptic voltage-gated sodium channels (Nav1.
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