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Search results 401 to 458 out of 458 for Musk

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Hits by Strain

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Type Details Score
Genotype
Genotype
Symbol: Musk/Musk Tg(Ckmm-cre)5Khn/?
Background: involves: C57BL/6J * FVB
Zygosity: cn
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Musk/Musk Tg(Ckmm-cre)5Khn/?
Background: involves: C57BL/6J * FVB
Zygosity: cn
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Musk/Musk
Background: Not Specified
Zygosity: ht
Has Mutant Allele: true
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DO Term
DOID:0110670 | congenital myasthenic syndrome 9
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Publication
22517892 | J:188663
First Author: Mazzon C
Year: 2012
Journal: Blood
Title: Agrin is required for survival and function of monocytic cells.
Volume: 119
Issue: 23
Pages: 5502-11
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Publication
26990660 | J:260866
First Author: Anselmo A
Year: 2016
Journal: Cell Death Differ
Title: Identification of a novel agrin-dependent pathway in cell signaling and adhesion within the erythroid niche.
Volume: 23
Issue: 8
Pages: 1322-30
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Publication
21653324 | J:176936
First Author: Mazzon C
Year: 2011
Journal: Blood
Title: The critical role of agrin in the hematopoietic stem cell niche.
Volume: 118
Issue: 10
Pages: 2733-42
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HT Experiment
E-GEOD-2873 | Transcription profiling of mouse skeletal muscle to detect genes that regulate motor axon growth and differentiation
Series Id: GSE2873
Experiment Type: transcription profiling by array
Study Type: Baseline
Source: ArrayExpress
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Protein Domain
IPR037746 | Dok-7
Type: Family
Description: Dok-7 is a cytoplasmic adaptor protein and a member of the Dok family. It is a substrate of MuSK (a receptor tyrosine kinase) and an activator of MuSK's kinase activity []. Mutations of the Dok-7 gene cause Myasthenic syndrome, congenital, 10 (CMS10), a form of congenital myasthenic syndrome, a group of disorders characterised by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmuneorigin [, ].The Dok family adapters are phosphorylated by different protein tyrosine kinases. Dok proteins are involved in processes such as modulation of cell differentiation and proliferation, as well as in control of the cell spreading and migration The Dok protein contains an N-terminal pleckstrin homology (PH) domain followed by a central phosphotyrosine binding (PTB) domain, which has a PH-like fold, and a proline- and tyrosine-rich C-terminal tail. The PH domain binds to acidic phospholids and localizes proteins to the plasma membrane, while the PTB domain mediates protein-protein interactions by binding to phosphotyrosine-containing motifs [].
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Publication
24140340 | J:202742
First Author: Hoshi T
Year: 2013
Journal: FEBS Lett
Title: Mesdc2 plays a key role in cell-surface expression of Lrp4 and postsynaptic specialization in myotubes.
Volume: 587
Issue: 23
Pages: 3749-54
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Publication
26527617 | J:235913
First Author: Hallock PT
Year: 2015
Journal: Mol Cell Biol
Title: Sorbs1 and -2 Interact with CrkL and Are Required for Acetylcholine Receptor Cluster Formation.
Volume: 36
Issue: 2
Pages: 262-70
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Publication
17439981 | -
First Author: Müller JS
Year: 2007
Journal: Brain
Title: Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
Volume: 130
Issue: Pt 6
Pages: 1497-506
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Publication
22661499 | -
First Author: Cossins J
Year: 2012
Journal: Hum Mol Genet
Title: The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
Volume: 21
Issue: 17
Pages: 3765-75
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Publication
22948967 | J:194646
First Author: Turco MY
Year: 2012
Journal: Stem Cells
Title: Cellular heterogeneity during embryonic stem cell differentiation to epiblast stem cells is revealed by the ShcD/RaLP adaptor protein.
Volume: 30
Issue: 11
Pages: 2423-36
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Publication
24430869 | -
First Author: Wills MK
Year: 2014
Journal: Mol Biol Cell
Title: The ShcD signaling adaptor facilitates ligand-independent phosphorylation of the EGF receptor.
Volume: 25
Issue: 6
Pages: 739-52
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Protein Domain
IPR037748 | Dok-7_PTB
Type: Domain
Description: Dok-7 is a cytoplasmic adaptor protein and a member of the Dok family. It is a substrate of MuSK (a receptor tyrosine kinase) and an activator of MuSK's kinase activity []. Mutations of the Dok-7 gene cause Myasthenic syndrome, congenital, 10 (CMS10), a form of congenital myasthenic syndrome, a group of disorders characterised by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin [, ].The Dok family adapters are phosphorylated by different protein tyrosine kinases. Dok proteins are involved in processes such as modulation of cell differentiation and proliferation, as well as in control of the cell spreading and migration The Dok protein contains an N-terminal pleckstrin homology (PH) domain followed by a central phosphotyrosine binding (PTB) domain, which has a PH-like fold, and a proline- and tyrosine-rich C-terminal tail. The PH domain binds to acidic phospholids and localizes proteins to the plasma membrane, while the PTB domain mediates protein-protein interactions by binding to phosphotyrosine-containing motifs [].This entry represents the PTB domain of Dok-7.
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Protein Domain
IPR029596 | SHC4
Type: Family
Description: The SH2-containing Shc adapter proteins are targets of activated tyrosine kinases and are implicated in the transmission of activation signals to the Ras/mitogen-activated protein kinase (MAPK) pathway []. Three Shc genes were originally identified in mammals that encode proteins characterised by an amino-terminal phosphotyrosine binding (PTB) domain and a carboxy-terminal Src homology 2 domain. Shc1 (ShcA) is ubiquitously expressed, whereas expression of Shc2 (ShcB) and Shc3 (ShcC) appears to be limited to neuronal cells [].A fourth Shc family protein, ShcD/Shc4, is expressed in adult brain and skeletal muscle. ShcD can associate via its PTB domain with the phosphorylated muscle-specific kinase (MuSK) receptor tyrosine kinase and undergo tyrosine phosphorylation downstream of activated MuSK. Therefore, ShcD may mediate a specific aspect of signalling downstream of the MuSK receptor []. ShcD also interacts with EGFR receptor (epidermal growth factor receptor) and facilitates its ligand-independent phosphorylation []. ShcD has been shown to be a modulator in the transition of embryonic stem cell (ESC) to epiblast stem cells (EpiSCs), the initial step for ESCs to commit to differentiation [].
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Protein Domain
IPR037747 | Dok-7_PH
Type: Domain
Description: Dok-7 is a cytoplasmic adaptor protein and a member of the Dok family. It is a substrate of MuSK (a receptor tyrosine kinase) and an activator of MuSK's kinase activity []. Mutations of the Dok-7 gene cause Myasthenic syndrome, congenital, 10 (CMS10), a form of congenital myasthenic syndrome, a group of disorders characterised by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin [, ].The Dok family adapters are phosphorylated by different protein tyrosine kinases. Dok proteins are involved in processes such as modulation of cell differentiation and proliferation, as well as in control of the cell spreading and migration The Dok protein contains an N-terminal pleckstrin homology (PH) domain followed by a central phosphotyrosine binding (PTB) domain, which has a PH-like fold, and a proline- and tyrosine-rich C-terminal tail. The PH domain binds to acidic phospholids and localizes proteins to the plasma membrane, while the PTB domain mediates protein-protein interactions by binding to phosphotyrosine-containing motifs [].This entry represents the PH domain of Dok-7.
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Publication
34033754 | J:307397
First Author: Xing G
Year: 2021
Journal: Neuron
Title: Membraneless condensates by Rapsn phase separation as a platform for neuromuscular junction formation.
Volume: 109
Issue: 12
Pages: 1963-1978.e5
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Publication
16278083 | J:106884
First Author: Ponomareva ON
Year: 2006
Journal: Mol Cell Neurosci
Title: Defective neuromuscular synaptogenesis in mice expressing constitutively active ErbB2 in skeletal muscle fibers.
Volume: 31
Issue: 2
Pages: 334-45
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Publication
22794264 | J:188352
First Author: Wu H
Year: 2012
Journal: Neuron
Title: Distinct roles of muscle and motoneuron LRP4 in neuromuscular junction formation.
Volume: 75
Issue: 1
Pages: 94-107
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Publication
22854782 | J:188149
First Author: Yumoto N
Year: 2012
Journal: Nature
Title: Lrp4 is a retrograde signal for presynaptic differentiation at neuromuscular synapses.
Volume: 489
Issue: 7416
Pages: 438-42
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Publication
22038977 | J:177552
First Author: Gomez AM
Year: 2011
Journal: Dev Dyn
Title: The extracellular region of Lrp4 is sufficient to mediate neuromuscular synapse formation.
Volume: 240
Issue: 12
Pages: 2626-33
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Publication
12393756 | J:128595
First Author: de Kerchove D'Exaerde A
Year: 2002
Journal: EMBO Rep
Title: Expression of mutant Ets protein at the neuromuscular synapse causes alterations in morphology and gene expression.
Volume: 3
Issue: 11
Pages: 1075-81
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Publication
29339325 | J:258113
 
First Author: Yan M
Year: 2018
Journal: Neuroscience
Title: Induction of Anti-agrin Antibodies Causes Myasthenia Gravis in Mice.
Volume: 373
Pages: 113-121
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Publication
19909370 | -
First Author: Mashima R
Year: 2009
Journal: Immunol Rev
Title: The roles of Dok family adapters in immunoreceptor signaling.
Volume: 232
Issue: 1
Pages: 273-85
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Publication
25901328 | J:262348
First Author: Block E
Year: 2015
Journal: Proc Natl Acad Sci U S A
Title: Implausibility of the vibrational theory of olfaction.
Volume: 112
Issue: 21
Pages: E2766-74
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Publication
18775496 | J:142424
First Author: Kim ML
Year: 2008
Journal: Mol Cell Neurosci
Title: O-fucosylation of muscle agrin determines its ability to cluster acetylcholine receptors.
Volume: 39
Issue: 3
Pages: 452-64
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Publication
10700181 | J:60754
First Author: DeChiara TM
Year: 2000
Journal: Nat Genet
Title: Ror2, encoding a receptor-like tyrosine kinase, is required for cartilage and growth plate development.
Volume: 24
Issue: 3
Pages: 271-4
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Publication
15340048 | J:92775
First Author: Mittaud P
Year: 2004
Journal: Mol Cell Biol
Title: A single pulse of agrin triggers a pathway that acts to cluster acetylcholine receptors.
Volume: 24
Issue: 18
Pages: 7841-54
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Publication
21041412 | J:165470
First Author: Hallock PT
Year: 2010
Journal: Genes Dev
Title: Dok-7 regulates neuromuscular synapse formation by recruiting Crk and Crk-L.
Volume: 24
Issue: 21
Pages: 2451-61
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Publication
33117128 | J:328112
 
First Author: Huang K
Year: 2020
Journal: Front Mol Neurosci
Title: Gene Expression Profile at the Motor Endplate of the Neuromuscular Junction of Fast-Twitch Muscle.
Volume: 13
Pages: 154
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Publication
33987657 | J:328081
First Author: Hui T
Year: 2021
Journal: Hum Mol Genet
Title: Increasing LRP4 diminishes neuromuscular deficits in a mouse model of Duchenne muscular dystrophy.
Volume: 30
Issue: 17
Pages: 1579-1590
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Publication
24200689 | J:207776
First Author: Shen C
Year: 2013
Journal: J Clin Invest
Title: Antibodies against low-density lipoprotein receptor-related protein 4 induce myasthenia gravis.
Volume: 123
Issue: 12
Pages: 5190-202
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Publication
25411495 | J:215302
First Author: McClintock TS
Year: 2014
Journal: J Neurosci
Title: In vivo identification of eugenol-responsive and muscone-responsive mouse odorant receptors.
Volume: 34
Issue: 47
Pages: 15669-78
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Publication
26993635 | J:239493
First Author: Sigoillot SM
Year: 2016
Journal: FASEB J
Title: Neuromuscular junction immaturity and muscle atrophy are hallmarks of the ColQ-deficient mouse, a model of congenital myasthenic syndrome with acetylcholinesterase deficiency.
Volume: 30
Issue: 6
Pages: 2382-99
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Publication
18685098 | J:140163
First Author: Lin S
Year: 2008
Journal: Proc Natl Acad Sci U S A
Title: Muscle-wide secretion of a miniaturized form of neural agrin rescues focal neuromuscular innervation in agrin mutant mice.
Volume: 105
Issue: 32
Pages: 11406-11
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Publication
24589747 | J:209879
First Author: Ulusoy C
Year: 2014
Journal: Clin Immunol
Title: Preferential production of IgG1, IL-4 and IL-10 in MuSK-immunized mice.
Volume: 151
Issue: 2
Pages: 155-63
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Publication
34163073 | J:324232
First Author: Oury J
Year: 2021
Journal: Nature
Title: Mechanism of disease and therapeutic rescue of Dok7 congenital myasthenia.
Volume: 595
Issue: 7867
Pages: 404-408
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Publication
28490573 | J:262806
First Author: Miyoshi S
Year: 2017
Journal: EMBO Mol Med
Title: DOK7 gene therapy enhances motor activity and life span in ALS model mice.
Volume: 9
Issue: 7
Pages: 880-889
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Publication
17873280 | J:128352
First Author: Cohen TJ
Year: 2007
Journal: J Biol Chem
Title: The histone deacetylase HDAC4 connects neural activity to muscle transcriptional reprogramming.
Volume: 282
Issue: 46
Pages: 33752-9
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Publication
11455430 | J:69867
First Author: Al-Shawi R
Year: 2001
Journal: Dev Genes Evol
Title: Expression of the Ror1 and Ror2 receptor tyrosine kinase genes during mouse development.
Volume: 211
Issue: 4
Pages: 161-71
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Publication
12796783 | J:84071
First Author: Finn AJ
Year: 2003
Journal: Nat Neurosci
Title: Postsynaptic requirement for Abl kinases in assembly of the neuromuscular junction.
Volume: 6
Issue: 7
Pages: 717-23
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Publication
20041195 | J:155942
First Author: Madhavan R
Year: 2009
Journal: PLoS One
Title: The function of cortactin in the clustering of acetylcholine receptors at the vertebrate neuromuscular junction.
Volume: 4
Issue: 12
Pages: e8478
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Publication
27845689 | J:238726
First Author: Miyado M
Year: 2017
Journal: Reproduction
Title: Expression patterns of Fgf8 and Shh in the developing external genitalia of Suncus murinus.
Volume: 153
Issue: 2
Pages: 187-195
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Publication
32271162 | J:308955
 
First Author: Ohkawara B
Year: 2020
Journal: JCI Insight
Title: Congenital myasthenic syndrome-associated agrin variants affect clustering of acetylcholine receptors in a domain-specific manner.
Volume: 5
Issue: 7
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Publication
26198629 | J:315421
First Author: Herrmann D
Year: 2015
Journal: J Biol Chem
Title: Protein kinase CK2 interacts at the neuromuscular synapse with Rapsyn, Rac1, 14-3-3γ, and Dok-7 proteins and phosphorylates the latter two.
Volume: 290
Issue: 37
Pages: 22370-84
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Publication
36552732 | J:334347
 
First Author: Gessler L
Year: 2022
Journal: Cells
Title: In Adult Skeletal Muscles, the Co-Receptors of Canonical Wnt Signaling, Lrp5 and Lrp6, Determine the Distribution and Size of Fiber Types, and Structure and Function of Neuromuscular Junctions.
Volume: 11
Issue: 24
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Protein
A0A0R4J0R2
Organism: Mus musculus/domesticus
Length: 570  
Fragment?: false
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Publication
30171091 | J:266450
First Author: Zhao K
Year: 2018
Journal: J Neurosci
Title: Sarcoglycan Alpha Mitigates Neuromuscular Junction Decline in Aged Mice by Stabilizing LRP4.
Volume: 38
Issue: 41
Pages: 8860-8873
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Publication
18436384 | J:139388
First Author: Lee Y
Year: 2008
Journal: Neuroscience
Title: Rapsyn carboxyl terminal domains mediate muscle specific kinase-induced phosphorylation of the muscle acetylcholine receptor.
Volume: 153
Issue: 4
Pages: 997-1007
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Protein
Q18PE0
Organism: Mus musculus/domesticus
Length: 504  
Fragment?: false
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Protein
Q8CB26
Organism: Mus musculus/domesticus
Length: 219  
Fragment?: false
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Protein
D3Z7E3
Organism: Mus musculus/domesticus
Length: 114  
Fragment?: true
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Publication
11607835 | -
First Author: Ravichandran KS
Year: 2001
Journal: Oncogene
Title: Signaling via Shc family adapter proteins.
Volume: 20
Issue: 44
Pages: 6322-30
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Publication
8760305 | J:34966
First Author: Pelicci G
Year: 1996
Journal: Oncogene
Title: A family of Shc related proteins with conserved PTB, CH1 and SH2 regions.
Volume: 13
Issue: 3
Pages: 633-41
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Protein
Q6S5L9
Organism: Mus musculus/domesticus
Length: 626  
Fragment?: false
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Protein
A2AUN0
Organism: Mus musculus/domesticus
Length: 340  
Fragment?: false
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MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

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Cambridge CB2 3EH, United Kingdom