(Q40029298)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18165682%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

title

Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7 (English)

1 reference

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31 December 2019

0 references

6

1 reference

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31 December 2019

author name string

Johko Hamuro

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18165682%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Osamu Higuchi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18165682%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Kumiko Okada

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18165682%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Makiko Ueno

4

1 reference

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31 December 2019

Shun-ichiro Iemura

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18165682%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Hayley Spearman

7

1 reference

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31 December 2019

David Beeson

8

1 reference

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31 December 2019

Yuji Yamanashi

9

1 reference

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31 December 2019

language of work or name

English

0 references

publication date

29 December 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18165682%20AND%20SRC:MED&resulttype=core&format=json

Journal of Biological Chemistry

31 December 2019

number of pages

7

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

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31 December 2019

volume

283

1 reference

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31 December 2019

issue

9

1 reference

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31 December 2019

page(s)

5518-5524

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18165682%20AND%20SRC:MED&resulttype=core&format=json

The muscle protein Dok-7 is essential for neuromuscular synaptogenesis

31 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

Identification of the Abl- and rasGAP-associated 62 kDa protein as a docking protein, Dok

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

p62(dok): a constitutively tyrosine-phosphorylated, GAP-associated protein in chronic myelogenous leukemia progenitor cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

Molecular cloning and characterization of p56dok-2 defines a new family of RasGAP-binding proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

Characterization of a novel member of the DOK family that binds and modulates Abl signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

Novel p62dok family members, dok-4 and dok-5, are substrates of the c-Ret receptor tyrosine kinase and mediate neuronal differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

Dok-6, a Novel p62 Dok family member, promotes Ret-mediated neurite outgrowth

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

Drosophila Dok is required for embryonic dorsal closure

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

Autoimmune channelopathies and related neurological disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

Sleuthing molecular targets for neurological diseases at the neuromuscular junction

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

The therapy of congenital myasthenic syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic)

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

MUSK, a new target for mutations causing congenital myasthenic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

Myasthenic syndrome caused by mutation of the SCN4A sodium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia'.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

Light on limb-girdle myasthenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

Dok-7 mutations underlie a neuromuscular junction synaptopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

Clinical features of the DOK7 neuromuscular junction synaptopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

Regulation of C2C12 myogenic terminal differentiation by MKK3/p38alpha pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

Specificity in signal transduction: from phosphotyrosine-SH2 domain interactions to complex cellular systems

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

CrkII induces serum response factor activation and cellular transformation through its function in Rho activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708607200

21 January 2018

Identifiers

DOI

10.1074/JBC.M708607200

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18165682%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference