Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome (Q24291252)

potassium ion import across plasma membrane

GOA release 2020-03-11

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GOA release 2020-03-11

author name string

N M Plaster

1

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R Tawil

2

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M Tristani-Firouzi

3

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S Canún

4

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S Bendahhou

5

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A Tsunoda

6

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M R Donaldson

7

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S T Iannaccone

8

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E Brunt

9

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R Barohn

10

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J Clark

11

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F Deymeer

12

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A L George

13

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F A Fish

14

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A Hahn

15

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A Nitu

16

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C Ozdemir

17

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P Serdaroglu

18

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S H Subramony

19

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G Wolfe

20

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Y H Fu

21

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L J Ptácek

MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis

22

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language of work or name

English

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publication date

18 May 2001

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published in

Cell

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volume

105

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issue

4

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page(s)

511-9

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cites work

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Andersen syndrome autosomal dominant in three generations

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

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Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K+ channel function

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The inward rectifier potassium channel family.

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Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis

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Voltage-gated and inwardly rectifying potassium channels

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Early afterdepolarizations: mechanism of induction and block. A role for L-type Ca2+ current

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Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current

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Sudden death risk in overt coronary heart disease: the Framingham Study

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Ontogeny of gene expression of Kir channel subunits in the rat.

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Molecular and cellular mechanisms of cardiac arrhythmias

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Primary structure and functional expression of a mouse inward rectifier potassium channel

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Calculation of QTc duration and variability in the presence of sinus arrhythmia

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The exercise test in periodic paralysis

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Molecular cloning and functional expression of a novel brain-specific inward rectifier potassium channel

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Inward rectifier potassium channels

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

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Identification of a mutation in the gene causing hyperkalemic periodic paralysis

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Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

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Molecular cloning and expression of a human heart inward rectifier potassium channel

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A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis

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Insulin acts in hypokalemic periodic paralysis by reducing inward rectifier K+ current

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Skeletal muscle sodium current is reduced in hypokalemic periodic paralysis

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Defective slow inactivation of sodium channels contributes to familial periodic paralysis

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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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Andersen's syndrome: A distinct periodic paralysis

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Diagnostic criteria for the long QT syndrome. An update

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Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK

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Mutations in the hminK gene cause long QT syndrome and suppress IKs function

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Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features

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Regions responsible for the assembly of inwardly rectifying potassium channels

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Kir2.4: a novel K+ inward rectifier channel associated with motoneurons of cranial nerve nuclei

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Impairment of skeletal muscle adenosine triphosphate-sensitive K+ channels in patients with hypokalemic periodic paralysis

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Voltage-dependent inactivation of the human K+ channel KvLQT1 is eliminated by association with minimal K+ channel (minK) subunits

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Mapping of the physical interaction between the intracellular domains of an inwardly rectifying potassium channel, Kir6.2

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

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

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Cloning and functional expression of an inwardly rectifying K+ channel from human atrium

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Circadian variation in the incidence of sudden cardiac death in the Framingham Heart Study population

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Determination of the subunit stoichiometry of an inwardly rectifying potassium channel

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Targeted disruption of Kir2.1 and Kir2.2 genes reveals the essential role of the inwardly rectifying K(+) current in K(+)-mediated vasodilation.

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Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

11371347

1 reference

Consolidated OpenCitations Corpus – April 2017