Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Einwärts gerichteter Kaliumkanal 2

Das KCNJ2-Gen kodiert einen Kaliumkanal der bei der Reizleitung des herzens beteiligt ist. Mutationen führen zum autosomal dominanten Short-QT-Syndrom 3.

Gentests:

Forschung Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Short-QT-Syndrom 3
KCNJ2

Referenzen:

1.

Lu Z et. al. (2001) Ion conduction pore is conserved among potassium channels.

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2.

Doyle DA et. al. (1998) The structure of the potassium channel: molecular basis of K+ conduction and selectivity.

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3.

Kubo Y et. al. (1993) Primary structure and functional expression of a mouse inward rectifier potassium channel.

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4.

Raab-Graham KF et. al. (1994) Molecular cloning and expression of a human heart inward rectifier potassium channel.

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5.

Derst C et. al. (2001) Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits.

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6.

Plaster NM et. al. (2001) Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.

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7.

Wolbrette D et. al. (2002) Gender differences in arrhythmias.

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8.

Pham TV et. al. (2002) Sex, hormones, and repolarization.

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9.

Preisig-Müller R et. al. (2002) Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome.

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10.

Lopes CM et al. (2002) Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies.

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11.

Andelfinger G et. al. (2002) KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes.

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12.

Tristani-Firouzi M et. al. (2002) Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).

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13.

Miake J et. al. (2002) Biological pacemaker created by gene transfer.

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14.

Donaldson MR et. al. (2003) PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.

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15.

Priori SG et. al. (2005) A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene.

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16.

Xia M et. al. (2005) A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation.

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17.

Davies NP et. al. (2005) Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.

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18.

Lu CW et. al. (2006) Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome.

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19.

Choi BO et. al. (2007) Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families.

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20.

Bendahhou S et. al. (2007) Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred.

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21.

Rodríguez-Menchaca AA et. al. (2008) The molecular basis of chloroquine block of the inward rectifier Kir2.1 channel.

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22.

Epshtein Y et. al. (2009) Identification of a C-terminus domain critical for the sensitivity of Kir2.1 to cholesterol.

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23.

Luo X et. al. (2013) MicroRNA-26 governs profibrillatory inward-rectifier potassium current changes in atrial fibrillation.

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Update: 26. September 2018