(Q30584867)

14 October 2017

A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia (English)

1 reference

14 October 2017

5

1 reference

14 October 2017

Adrian Robert Krainer

7

1 reference

14 October 2017

Xavier Roca

2

0 references

Tomoya Kubota

object named as

Tomoya Kubota

1

0 references

author name string

Takashi Kimura

3

1 reference

14 October 2017

Yosuke Kokunai

4

1 reference

14 October 2017

Saburo Sakoda

6

1 reference

14 October 2017

Masanori P Takahashi

8

1 reference

14 October 2017

28 April 2011

1 reference

14 October 2017

1 reference

14 October 2017

32

1 reference

14 October 2017

7

1 reference

14 October 2017

773-782

1 reference

The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.

14 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

Sodium channel mutations and arrhythmias

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

New mutation of the Na channel in the severe form of potassium-aggravated myotonia.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

Recognition of atypical 5' splice sites by shifted base-pairing to U1 snRNA.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

SCN5A channelopathies--an update on mutations and mechanisms

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

The nonsense-mediated decay RNA surveillance pathway

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

Comprehensive splice-site analysis using comparative genomics

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

Inherited disorders of voltage-gated sodium channels

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

Phenotypic variability in myotonia congenita

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

Splicing double: insights from the second spliceosome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

Myasthenic syndrome caused by mutation of the SCN4A sodium channel

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

Allosteric cascade of spliceosome activation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

AT-AC pre-mRNA splicing mechanisms and conservation of minor introns in voltage-gated ion channel genes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

Enhanced slow inactivation by V445M: a sodium channel mutation associated with myotonia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

Human sodium channel gating defects caused by missense mutations in S6 segments associated with myotonia: S804F and V1293I.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

Terminal intron dinucleotide sequences do not distinguish between U2- and U12-dependent introns

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

Base pairing with U6atac snRNA is required for 5' splice site activation of U12-dependent introns in vivo

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

U11 snRNA interacts in vivo with the 5' splice site of U12-dependent (AU-AC) pre-mRNA introns

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

U1-mediated exon definition interactions between AT-AC and GT-AG introns

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

Theoretical reconstruction of myotonia and paralysis caused by incomplete inactivation of sodium channels

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

Suppression of mammalian 5' splice-site defects by U1 small nuclear RNAs from a distance

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

A compensatory base change in U1 snRNA suppresses a 5' splice site mutation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

5' splice site selection in yeast: genetic alterations in base-pairing with U1 reveal additional requirements

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

A U1 snRNA:pre-mRNA base pairing interaction is required early in yeast spliceosome assembly but does not uniquely define the 5' cleavage site.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

Schwartz-Jampel syndrome: II. Na+ channel defect causes myotonia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

A voltage-dependent gating transition induces use-dependent block by tetrodotoxin of rat IIA sodium channels expressed in Xenopus oocytes.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

A cluster of hydrophobic amino acid residues required for fast Na(+)-channel inactivation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

Inactivation of the sodium channel. II. Gating current experiments

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

Evolutionary fates and origins of U12-type introns.

28 July 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21501

Pathomechanisms in channelopathies of skeletal muscle and brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21501

Comparative analysis detects dependencies among the 5' splice-site positions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21501

Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21501

Mutations in U6 snRNA that alter splice site specificity: implications for the active site

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21501

Splicing of a divergent subclass of AT-AC introns requires the major spliceosomal snRNAs.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109284

Evidence for an essential non-Watson–Crick interaction between the first and last nucleotides of a nuclear pre-mRNA intron

26 November 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21501

Expanding the definition of informational suppression

21 January 2018

1 reference

12 December 2020

A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene

1 reference

12 December 2020

Interactions of small nuclear RNA's with precursor messenger RNA during in vitro splicing

1 reference

12 December 2020

An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites

1 reference

12 December 2020

Cold extends electromyography distinction between ion channel mutations causing myotonia

1 reference

12 December 2020

A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene

1 reference

12 December 2020

Involvement of U6 snRNA in 5' splice site selection

1 reference

12 December 2020

Electromyography guides toward subgroups of mutations in muscle channelopathies.

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.21501

1 reference

14 October 2017

1 reference

14 October 2017

1 reference