(Q36428423)

14 August 2017

Dominantly inherited myotonia congenita resulting from a mutation that increases open probability of the muscle chloride channel CLC-1 (English)

1 reference

14 August 2017

1 reference

David P Richman

1

1 reference

14 August 2017

Yawei Yu

2

1 reference

14 August 2017

Ting-Ting Lee

3

1 reference

14 August 2017

Pang-Yen Tseng

4

1 reference

14 August 2017

Wei-Ping Yu

5

1 reference

14 August 2017

Ricardo A Maselli

6

1 reference

14 August 2017

Chih-Yung Tang

7

1 reference

14 August 2017

Tsung-Yu Chen

8

1 reference

14 August 2017

12 July 2012

1 reference

14 August 2017

NeuroMolecular Medicine

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14 August 2017

14

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14 August 2017

4

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14 August 2017

328-337

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Hyperphosphorylation as a defense mechanism to reduce TDP-43 aggregation

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508202

Binding of ATP to the CBS domains in the C-terminal region of CLC-1.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508202

Variability in gene expression underlies incomplete penetrance

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508202

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508202

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508202

ATP inhibition of CLC-1 is controlled by oxidation and reduction

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508202

Cytoplasmic ATP inhibition of CLC-1 is enhanced by low pH

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508202

The nondystrophic myotonias

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508202

The ClC family of chloride channels and transporters

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508202

Phenotypic variability in myotonia congenita

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508202

Structure and function of clc channels

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508202

The structural basis of ClC chloride channel function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508202

Involvement of helices at the dimer interface in ClC-1 common gating

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508202

The myotonia congenita mutation A331T confers a novel hyperpolarization-activated gate to the muscle chloride channel ClC-1.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508202

Myotonia caused by mutations in the muscle chloride channel gene CLCN1.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508202

Pore-forming segments in voltage-gated chloride channels

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508202

Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508202

Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508202

Novel muscle chloride channel mutations and their effects on heterozygous carriers

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508202

A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508202

Novel CLCN1 mutations with unique clinical and electrophysiological consequences

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508202

ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508202

Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype

28 June 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-012-8190-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-012-8190-1

Functional characterization of CLCN1 mutations in Taiwanese patients with myotonia congenita via heterologous expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-012-8190-1

Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-012-8190-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-012-8190-1

F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle-specific chloride channel CLC-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-012-8190-1

A novel alteration of muscle chloride channel gating in myotonia levior.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-012-8190-1

The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and recessive myotonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-012-8190-1

Characterization of three myotonia-associated mutations of the CLCN1 chloride channel gene via heterologous expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-012-8190-1

Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508202

CLC Chloride Channels and Transporters: From Genes to Protein Structure, Pathology and Physiology

21 September 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12017-012-8190-1

The pathophysiology of myotonia produced by aromatic carboxylic acids

21 January 2018

1 reference

12 December 2020

Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect

1 reference

12 December 2020

Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene

1 reference

12 December 2020

Novel chloride channel gene mutations in two unrelated Chinese families with myotonia congenita

1 reference

12 December 2020

10.1007/S12017-012-8190-1

Identifiers

DOI

1 reference

14 August 2017

1 reference

14 August 2017

PubMed publication ID

22790975

1 reference