Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Short-QT-Syndrom 3
KCNJ2

Referenzen:

1.

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

[^]
2.

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

[^]
3.

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

[^]
4.

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

[^]
5.

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

[^]
6.

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

[^]
7.

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

[^]
8.

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

[^]
9.

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

[^]
10.

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

[^]
11.

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

[^]
12.

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

[^]
13.

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

[^]
14.

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

[^]
15.

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

[^]
16.

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

[^]
17.

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

[^]
18.

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

[^]
19.

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

[^]
20.

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

[^]
21.

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

[^]
22.

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

[^]
23.

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

[^]

 

 
Ihre Nachricht: