Pathophysiology of ion channel mutations (Q34395667)

1 August 2017

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title

Pathophysiology of ion channel mutations (English)

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1 August 2017

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Keating MT

1

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1 August 2017

Sanguinetti MC

series ordinal

2

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1 August 2017

publication date

1 June 1996

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Current Opinion in Genetics & Development

1 August 2017

published in

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1 August 2017

volume

6

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1 August 2017

issue

3

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1 August 2017

page(s)

326-333

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Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity

1 August 2017

cites work

1 reference

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7 January 2021

A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome

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7 January 2021

Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias

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7 January 2021

A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel

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7 January 2021

HERG, a Human Inward Rectifier in the Voltage-Gated Potassium Channel Family

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7 January 2021

Class III antiarrhythmic drugs block HERG, a human cardiac delayed rectifier K+ channel. Open-channel block by methanesulfonanilides

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7 January 2021

Spectrum of HERG K+-channel dysfunction in an inherited cardiac arrhythmia

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7 January 2021

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

1 reference

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7 January 2021

Identification of two new KCNA1 mutations in episodic ataxia/myokymia families

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7 January 2021

Episodic ataxia results from voltage-dependent potassium channels with altered functions

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7 January 2021

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

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7 January 2021

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

1 reference

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7 January 2021

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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7 January 2021

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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7 January 2021

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

1 reference

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7 January 2021

SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome

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7 January 2021

Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia.

1 reference

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7 January 2021

Molecular mechanism for an inherited cardiac arrhythmia

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7 January 2021

Overexcited or inactive: ion channels in muscle disease

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7 January 2021

Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro

1 reference

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7 January 2021

Pathophysiology of sodium channelopathies: correlation of normal/mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis

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7 January 2021

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

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7 January 2021

A calcium channel mutation causing hypokalemic periodic paralysis

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7 January 2021

Skeletal muscle DHP receptor mutations alter calcium currents in human hypokalaemic periodic paralysis myotubes

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7 January 2021

Amiloride-sensitive epithelial Na+ channel is made of three homologous subunits

1 reference

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7 January 2021

Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel

1 reference

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7 January 2021

Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome

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7 January 2021

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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7 January 2021

Mechanism by which Liddle's syndrome mutations increase activity of a human epithelial Na+ channel

1 reference

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7 January 2021

Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine

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7 January 2021

Water channels encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular routing

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7 January 2021

Mutations in aquaporin-1 in phenotypically normal humans without functional CHIP water channels

1 reference

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7 January 2021

Conformational states of CFTR associated with channel gating: the role ATP binding and hydrolysis.

1 reference

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7 January 2021

CFTR regulates outwardly rectifying chloride channels through an autocrine mechanism involving ATP

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4

7 January 2021

Multiple proteolytic systems, including the proteasome, contribute to CFTR processing

1 reference

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7 January 2021

Degradation of CFTR by the ubiquitin-proteasome pathway

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4

7 January 2021

Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4

7 January 2021

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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7 January 2021

A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome

1 reference

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7 January 2021

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

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7 January 2021

Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia

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7 January 2021

A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation

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7 January 2021

Gene interactions affecting mechanosensory transduction in Caenorhabditis elegans

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7 January 2021

A mutated acetylcholine receptor subunit causes neuronal degeneration in C. elegans

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7 January 2021

Mutation of a new sodium channel gene, Scn8a, in the mouse mutant ‘motor endplate disease’

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https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980010-4

7 January 2021

A common molecular basis for three inherited kidney stone diseases

1 reference

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7 January 2021

10.1016/S0959-437X(96)80010-4

Identifiers

DOI

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release_y33o7gxvnreirlg6gptx7afo2q

1 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/y33o7gxvnreirlg6gptx7afo2q

24 November 2022

mapped directly with Wikidata item

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