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Pathophysiology of ion channel mutations
scientific article
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
8791523
retrieved
1 August 2017
review article
1 reference
stated in
Europe PubMed Central
title
Pathophysiology of ion channel mutations
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
8791523
retrieved
1 August 2017
main subject
pathophysiology
1 reference
based on heuristic
inferred from title
author name string
Keating MT
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
8791523
retrieved
1 August 2017
Sanguinetti MC
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
8791523
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1 August 2017
publication date
1 June 1996
1 reference
stated in
Europe PubMed Central
PubMed ID
8791523
retrieved
1 August 2017
published in
Current Opinion in Genetics & Development
1 reference
stated in
Europe PubMed Central
PubMed ID
8791523
retrieved
1 August 2017
volume
6
1 reference
stated in
Europe PubMed Central
PubMed ID
8791523
retrieved
1 August 2017
page(s)
326-333
1 reference
stated in
Europe PubMed Central
PubMed ID
8791523
retrieved
1 August 2017
issue
3
1 reference
stated in
Europe PubMed Central
PubMed ID
8791523
retrieved
1 August 2017
cites work
Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
retrieved
7 January 2021
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inferred from DOI database lookup
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
retrieved
7 January 2021
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inferred from DOI database lookup
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias
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7 January 2021
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A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel
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reference URL
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7 January 2021
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HERG, a human inward rectifier in the voltage-gated potassium channel family
1 reference
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7 January 2021
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Class III antiarrhythmic drugs block HERG, a human cardiac delayed rectifier K+ channel. Open-channel block by methanesulfonanilides
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https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
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7 January 2021
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Spectrum of HERG K+-channel dysfunction in an inherited cardiac arrhythmia
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https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
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7 January 2021
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Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1
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https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
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7 January 2021
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Identification of two new KCNA1 mutations in episodic ataxia/myokymia families
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7 January 2021
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Episodic ataxia results from voltage-dependent potassium channels with altered functions
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
retrieved
7 January 2021
based on heuristic
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Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).
1 reference
stated in
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
retrieved
7 January 2021
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Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen)
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
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7 January 2021
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Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
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7 January 2021
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Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
retrieved
7 January 2021
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Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel
1 reference
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reference URL
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7 January 2021
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SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
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7 January 2021
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Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
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7 January 2021
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Molecular mechanism for an inherited cardiac arrhythmia
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
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7 January 2021
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Overexcited or inactive: ion channels in muscle disease
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
retrieved
7 January 2021
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Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
retrieved
7 January 2021
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Pathophysiology of sodium channelopathies: correlation of normal/mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
retrieved
7 January 2021
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Dihydropyridine receptor mutations cause hypokalemic periodic paralysis
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stated in
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
retrieved
7 January 2021
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A calcium channel mutation causing hypokalemic periodic paralysis
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7 January 2021
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Skeletal muscle DHP receptor mutations alter calcium currents in human hypokalaemic periodic paralysis myotubes
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7 January 2021
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Amiloride-sensitive epithelial Na+ channel is made of three homologous subunits
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7 January 2021
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Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel
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https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
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7 January 2021
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Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome
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7 January 2021
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A mutation in the epithelial sodium channel causing Liddle disease increases channel activity in the Xenopus laevis oocyte expression system
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
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7 January 2021
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Mechanism by which Liddle's syndrome mutations increase activity of a human epithelial Na+ channel
1 reference
stated in
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
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7 January 2021
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Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
retrieved
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Water channels encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular routing
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
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7 January 2021
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Mutations in aquaporin-1 in phenotypically normal humans without functional CHIP water channels
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retrieved
7 January 2021
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Conformational states of CFTR associated with channel gating: the role ATP binding and hydrolysis.
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
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7 January 2021
based on heuristic
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CFTR regulates outwardly rectifying chloride channels through an autocrine mechanism involving ATP
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
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7 January 2021
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Multiple proteolytic systems, including the proteasome, contribute to CFTR processing.
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
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7 January 2021
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Degradation of CFTR by the ubiquitin-proteasome pathway
1 reference
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7 January 2021
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Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
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7 January 2021
based on heuristic
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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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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
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7 January 2021
based on heuristic
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A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
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7 January 2021
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A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
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7 January 2021
based on heuristic
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Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
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7 January 2021
based on heuristic
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A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
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7 January 2021
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Gene interactions affecting mechanosensory transduction in Caenorhabditis elegans.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
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7 January 2021
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A mutated acetylcholine receptor subunit causes neuronal degeneration in C. elegans.
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
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7 January 2021
based on heuristic
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Mutation of a new sodium channel gene, Scn8a, in the mouse mutant ‘motor endplate disease’
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
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7 January 2021
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A common molecular basis for three inherited kidney stone diseases
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4
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7 January 2021
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Identifiers
DOI
10.1016/S0959-437X(96)80010-4
1 reference
stated in
Europe PubMed Central
PubMed ID
8791523
retrieved
1 August 2017
Fatcat ID
release_y33o7gxvnreirlg6gptx7afo2q
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Fatcat
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24 November 2022
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mapped directly with Wikidata item
PubMed ID
8791523
1 reference
stated in
Europe PubMed Central
PubMed ID
8791523
retrieved
1 August 2017
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