(Q24596565)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112288%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

title

Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112288%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

1 reference

5

1 reference

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25 October 2019

author name string

Steinmeyer K

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112288%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Lorenz C

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112288%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Pusch M

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112288%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Koch MC

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112288%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

language of work or name

English

0 references

publication date

1 February 1994

1 reference

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25 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112288%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

volume

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112288%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

page(s)

737-743

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112288%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112288%20AND%20SRC:MED&resulttype=core&format=json

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

25 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

The skeletal muscle chloride channel in dominant and recessive human myotonia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

High-efficiency transformation of mammalian cells by plasmid DNA

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

Chloride conductance in normal and myotonic muscle fibres and the action of monocarboxylic aromatic acids

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

Cloning of a membrane protein that induces a slow voltage-gated potassium current

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

Membrane changes in cells from myotonia patients

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

Determination of the subunit stoichiometry of a voltage-activated potassium channel

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

Molecular cloning of a chloride channel that is regulated by dehydration and expressed predominantly in kidney medulla

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

The myotonic mouse mutant ADR: electrophysiology of the muscle fiber

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

A chloride channel widely expressed in epithelial and non-epithelial cells

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

Transient weakness and altered membrane characteristic in recessive generalized myotonia (Becker)

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

The structure of an antigenic determinant in a protein

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

Low single channel conductance of the major skeletal muscle chloride channel, ClC-1.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

Single chloride channels from Torpedo electroplax. Activation by protons

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

Cable parameters, sodium, potassium, chloride, and water content, and potassium efflux in isolated external intercostal muscle of normal volunteers and patients with myotonia congenita

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

Mutants that make more lac repressor

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

Arrangement of the acetylcholine receptor subunits in the resting and desensitized states, determined by cryoelectron microscopy of crystallized Torpedo postsynaptic membranes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

The interference of truncated with normal potassium channel subunits leads to abnormal behaviour in transgenic Drosophila melanogaster

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

Conserved quaternary structure of ligand-gated ion channels: the postsynaptic glycine receptor is a pentamer

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

27 September 2017

Muscle chloride channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

Completely functional double-barreled chloride channel expressed from a single Torpedo cDNA

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

Inactivation of muscle chloride channel by transposon insertion in myotonic mice

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

Linkage of Thomsen disease to the T-cell-receptor beta (TCRB) locus on chromosome 7q35

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

Phospholemman expression induces a hyperpolarization-activated chloride current in Xenopus oocytes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

Functional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

Functional expression of sodium channel mutations identified in families with periodic paralysis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

Drug-induced myotonia in human intercostal muscle

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

Primary structure of Torpedo marmorata chloride channel isolated by expression cloning in Xenopus oocytes.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

Pentameric structure and subunit stoichiometry of a neuronal nicotinic acetylcholine receptor

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

Regions involved in the opening of CIC-2 chloride channel by voltage and cell volume

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

Heterozygote manifestation in recessive generalized myotonia

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

The protein IsK is a dual activator of K+ and Cl- channels.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

Indanyloxyacetic acid-sensitive chloride channels from outer membranes of skeletal muscle.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=394869

Altered Na+ channel activity and reduced Cl? conductance cause hyperexcitability in recessive generalized myotonia (becker)

28 November 2018

1 reference

12 December 2020

Autosomal recessive generalized myotonia

1 reference

12 December 2020

EMG in detection of heterozygote carriers of recessive generalized myotonia

1 reference

12 December 2020

Chloride channels with reduced single-channel conductance in recessive myotonia congenita

1 reference

12 December 2020

10.1002/J.1460-2075.1994.TB06315.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112288%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112288%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

1 reference