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MUSK gene
Known as:
MUSCLE, SKELETAL, RECEPTOR TYROSINE KINASE
, NSK2
, RECEPTOR TYROSINE KINASE NSK2, MOUSE, HOMOLOG OF
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This gene plays a role in receptor tyrosine kinase signal transduction and in neuronal synapse function.
National Institutes of Health
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Related topics
Related topics
6 relations
Ligand Binding
MUSK protein, human
MUSK wt Allele
Phosphorylation
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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
Na Li
,
C. Qiao
,
+4 authors
Cai-xia Liu
World Journal of Clinical Cases
2019
Corpus ID: 208179247
BACKGROUND Fetal akinesia deformation sequence (FADS) is a broad spectrum disorder with absent fetal movements as the unifying…
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2018
2018
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness
D. Owen
,
A. Töpf
,
+18 authors
Hanns Lochmüller
American Journal of Medical Genetics. Part A
2018
Corpus ID: 13773883
Congenital myasthenic syndrome (CMS) is a heterogeneous disorder that causes fatigable muscle weakness. CMS has been associated…
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2015
2015
Improved plasma membrane expression of the trafficking defective P344R mutant of muscle, skeletal, receptor tyrosine kinase (MuSK) causing congenital myasthenic syndrome.
Reham M Milhem
,
L. Al-Gazali
,
B. Ali
International Journal of Biochemistry and Cell…
2015
Corpus ID: 37871806
2013
2013
P.12.4 Great phenotypic variability in two siblings affected by congenital myasthenic syndrome associated with mutations in MUSK
L. Maggi
,
R. Brugnoni
,
P. Confalonieri
,
V. Scaioli
,
P. Bernasconi
Neuromuscular Disorders
2013
Corpus ID: 54272950
2012
2012
[Anti-MuSK antibodies in myasthenia gravis block binding of collagen Q to MuSK].
K. Ohno
Rinshō 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…
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2011
2011
Familial autoimmune MuSK positive myasthenia gravis
D. Corda
,
G. Deiana
,
+5 authors
G. Sechi
Journal of Neurology
2011
Corpus ID: 32382796
The familial occurrence of autoimmune myasthenia gravis (MG) with anti-acetylcholine receptor antibodies (AChR Ab) has been…
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Review
2003
Review
2003
Signaling complexes for postsynaptic differentiation
Zhenge Luo
,
Qiang Wang
,
G. C. Dobbins
,
S. Levy
,
W. Xiong
,
L. Mei
Journal of Neurocytology
2003
Corpus ID: 23606090
The receptor tyrosine kinase MuSK is activated by agrin, an extracellular matrix protein believed to be utilized by motoneurons…
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Highly Cited
1999
Highly Cited
1999
Distinct phenotypes of mutant mice lacking agrin, MuSK, or rapsyn.
M. Gautam
,
T. Dechiara
,
D. Glass
,
G. Yancopoulos
,
J. Sanes
Brain research. Developmental brain research
1999
Corpus ID: 8574784
1999
1999
Identification and characterization of a novel splice variant of MuSK
B. A. Hesser
,
A. Sander
,
V. Witzemann
FEBS Letters
1999
Corpus ID: 24581659
Highly Cited
1998
Highly Cited
1998
Identification of a frizzled‐like cysteine rich domain in the extracellular region of developmental receptor tyrosine kinases
J. Saldanha
,
Juswinder Singh
,
D. Mahadevan
Protein Science
1998
Corpus ID: 6188117
In Drosophila, members of the Frizzled family of tissue‐polarity genes encode proteins that appear to function as cell‐surface…
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