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MUSK gene

Known as: MUSCLE, SKELETAL, RECEPTOR TYROSINE KINASE, NSK2, RECEPTOR TYROSINE KINASE NSK2, MOUSE, HOMOLOG OF 
This gene plays a role in receptor tyrosine kinase signal transduction and in neuronal synapse function.
National Institutes of Health

Related topics

Related topics

6 relations
Ligand BindingMUSK protein, humanMUSK wt AllelePhosphorylation
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Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Compound heterozygous mutation of MUSK causing fetal akinesia deformation sequence syndrome: A case report
BACKGROUND Fetal akinesia deformation sequence (FADS) is a broad spectrum disorder with absent fetal movements as the unifying… Expand
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2018
2018
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness
Congenital myasthenic syndrome (CMS) is a heterogeneous disorder that causes fatigable muscle weakness. CMS has been associated… Expand
2015
2015
Improved plasma membrane expression of the trafficking defective P344R mutant of muscle, skeletal, receptor tyrosine kinase (MuSK) causing congenital myasthenic syndrome.
Muscle, skeletal, receptor tyrosine kinase (MuSK) is a key organizer at the postsynaptic membrane and critical for proper… Expand
2013
2013
P.12.4 Great phenotypic variability in two siblings affected by congenital myasthenic syndrome associated with mutations in MUSK
Congenital myasthenic syndromes (CMS) are rare genetic diseases, in which neuromuscular transmission is impaired. To date 17 CMS… Expand
2012
2012
[Anti-MuSK antibodies in myasthenia gravis block binding of collagen Q to MuSK].
  • K. Ohno
  • Rinsho shinkeigaku = Clinical neurology
  • 2012
    • Corpus ID: 40733766
In myasthenia gravis (MG), 5-15% of patients are positive for MuSK antibodies. MuSK binds to LRP4 and transmits an agrin-mediated… Expand
2011
2011
Familial autoimmune MuSK positive myasthenia gravis
The familial occurrence of autoimmune myasthenia gravis (MG) with anti-acetylcholine receptor antibodies (AChR Ab) has been… Expand
  • figure 1
Review
2003
Review
2003
Signaling complexes for postsynaptic differentiation
The receptor tyrosine kinase MuSK is activated by agrin, an extracellular matrix protein believed to be utilized by motoneurons… Expand
Highly Cited
1999
Highly Cited
1999
Distinct phenotypes of mutant mice lacking agrin, MuSK, or rapsyn.
Differentiation of the postsynaptic membrane at the neuromuscular junction requires agrin, a nerve-derived signal; MuSK, a… Expand
1999
1999
Identification and characterization of a novel splice variant of MuSK
MuSK is a receptor tyrosine kinase that initiates the formation of neuromuscular junctions in response to agrin. Little is known… Expand
Highly Cited
1998
Highly Cited
1998
Identification of a frizzled‐like cysteine rich domain in the extracellular region of developmental receptor tyrosine kinases
In Drosophila, members of the Frizzled family of tissue‐polarity genes encode proteins that appear to function as cell‐surface… Expand
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