Electrophysiological characteristics of six mutations in hClC-1 of Korean patients with myotonia congenita (Q37671232)

21 August 2017

Electrophysiological characteristics of six mutations in hClC-1 of Korean patients with myotonia congenita (English)

1 reference

21 August 2017

1 reference

Kotdaji Ha

1

1 reference

21 August 2017

Sung-Young Kim

2

1 reference

21 August 2017

Chansik Hong

3

1 reference

21 August 2017

Jongyun Myeong

4

1 reference

21 August 2017

Jin-Hong Shin

5

1 reference

21 August 2017

Dae-Seong Kim

6

1 reference

21 August 2017

Ju-Hong Jeon

7

1 reference

21 August 2017

Insuk So

8

1 reference

21 August 2017

13 March 2014

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21 August 2017

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21 August 2017

37

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21 August 2017

3

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21 August 2017

202-212

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Dominantly Inherited Myotonia Congenita Resulting from a Mutation That Increases Open Probability of the Muscle Chloride Channel CLC-1

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969040

Physiology and pathophysiology of CLC-1: mechanisms of a chloride channel disease, myotonia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969040

Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969040

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969040

Discovery of potent CLC chloride channel inhibitors

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969040

Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969040

The structure of the cytoplasmic domain of the chloride channel ClC-Ka reveals a conserved interaction interface

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969040

The ClC family of chloride channels and transporters

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969040

Crystal structure of the cytoplasmic domain of the chloride channel ClC-0.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969040

Phenotypic variability in myotonia congenita

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969040

X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969040

Fast and slow gating relaxations in the muscle chloride channel CLC-1.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969040

A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969040

Subunit stoichiometry of human muscle chloride channels

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969040

Novel muscle chloride channel mutations and their effects on heterozygous carriers

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969040

Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker).

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969040

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969040

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969040

The skeletal muscle chloride channel in dominant and recessive human myotonia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969040

Myotonias due to CLC-1 chloride channel mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969040

Mechanism of voltage-dependent gating in skeletal muscle chloride channels

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969040

Chloride conductance in the transverse tubular system of rat skeletal muscle fibres: importance in excitation-contraction coupling and fatigue.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969040

Novel CLCN1 mutations with unique clinical and electrophysiological consequences

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969040

Distribution of potassium and chloride permeability over the surface and T-tubule membranes of mammalian skeletal muscle

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969040

Functional study of CLC-1 mutants expressed in Xenopus oocytes reveals that a C-terminal region Thr891-Ser892-Thr893 is responsible for the effects of protein kinase C activator

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969040

Characterization of two new dominant ClC-1 channel mutations associated with myotonia

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969040

Fast and slow gating of CLC-1: differential effects of 2-(4-chlorophenoxy) propionic acid and dominant negative mutations

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969040

Residues lining the inner pore vestibule of human muscle chloride channels

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969040

Optical evidence for a chloride conductance in the T-system of frog skeletal muscle

1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24625573

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.14348/MOLCELLS.2014.2267

1 reference

21 August 2017

1 reference

21 August 2017

PubMed publication ID

24625573

1 reference