(Q77925365)

English

Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor epsilon subunit gene

scientific article published on 01 May 1999

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382905%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor epsilon subunit gene (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382905%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

congenital myasthenic syndrome

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inferred from title

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382905%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

author name string

B Anlar

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382905%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

A G Engel

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382905%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

publication date

1 May 1999

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382905%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

Neuromuscular Disorders

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382905%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

9

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382905%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382905%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

131-135

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382905%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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Congenital myasthenic syndromes: experiments of nature

1 reference

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7 January 2021

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Synaptic structure and development: the neuromuscular junction

1 reference

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7 January 2021

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Agrin orchestrates synaptic differentiation at the vertebrate neuromuscular junction

1 reference

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7 January 2021

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In vivo and in vitro analysis of electrical activity-dependent expression of muscle acetylcholine receptor genes using adenovirus

1 reference

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7 January 2021

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Identification of a myocyte nuclear factor that binds to the muscle-specific enhancer of the mouse muscle creatine kinase gene

1 reference

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7 January 2021

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Identification and characterization of a 47 base pair activity-dependent enhancer of the rat nicotinic acetylcholine receptor delta-subunit promoter.

1 reference

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7 January 2021

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Nonmyogenic factors bind nicotinic acetylcholine receptor promoter elements required for response to denervation

1 reference

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7 January 2021

based on heuristic

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Implication of a multisubunit Ets-related transcription factor in synaptic expression of the nicotinic acetylcholine receptor

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Synapse-specific and neuregulin-induced transcription require an ets site that binds GABPalpha/GABPbeta

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a DNA element determining synaptic expression of the mouse acetylcholine receptor delta-subunit gene

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of an element crucial for the sub-synaptic expression of the acetylcholine receptor epsilon-subunit gene.

1 reference

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7 January 2021

based on heuristic

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Identification of a neuregulin and protein-tyrosine phosphatase response element in the nicotinic acetylcholine receptor epsilon subunit gene: regulatory role of an Rts transcription factor

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Ets transcription factors: nuclear effectors of the Ras-MAP-kinase signaling pathway

1 reference

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7 January 2021

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Induction of acetylcholine receptor gene expression by ARIA requires activation of mitogen-activated protein kinase

1 reference

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7 January 2021

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Heregulin-stimulated acetylcholine receptor gene expression in muscle: requirement for MAP kinase and evidence for a parallel inhibitory pathway independent of electrical activity

1 reference

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7 January 2021

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Neuregulins are concentrated at nerve-muscle synapses and activate ACh-receptor gene expression

1 reference

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7 January 2021

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Induction of acetylcholine receptors on cultured skeletal muscle by a factor extracted from brain and spinal cord

1 reference

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7 January 2021

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ARIA, a protein that stimulates acetylcholine receptor synthesis, is a member of the neu ligand family

1 reference

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7 January 2021

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Identification of an element required for acetylcholine receptor-inducing activity (ARIA)-induced expression of the acetylcholine receptor epsilon subunit gene

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit

1 reference

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7 January 2021

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Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations

1 reference

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7 January 2021

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Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor

1 reference

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Local transcriptional control of utrophin expression at the neuromuscular synapse

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Muscle and neural isoforms of agrin increase utrophin expression in cultured myotubes via a transcriptional regulatory mechanism

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