Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Spannungsabhängiger Kaliumkanal Unterfamilie H Member 2

das KCNH2-gen kodiert einen Kaliumkanal der für die Reizleitung am Herzen eine besondere Bedeutung besitzt. Mutationen führen zu autosomal dominanten Herzrhythmusstörungen wie dem Long- und dem Short-QT-Syndrom.

Diagnostik:

Clinic 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 1
KCNH2
Long-QT-Syndrom 02
KCNH2

Referenzen:

1.

Trudeau MC et. al. (1995) HERG, a human inward rectifier in the voltage-gated potassium channel family.

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2.

Sanguinetti MC et. al. (1995) A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel.

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3.

Curran ME et. al. (1995) A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.

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4.

Warmke JW et. al. (1994) A family of potassium channel genes related to eag in Drosophila and mammals.

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5.

Thomas PJ et. al. (1995) Defective protein folding as a basis of human disease.

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6.

None (1996) The inconstancy of the human heart.

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7.

Smith PL et. al. (1996) The inward rectification mechanism of the HERG cardiac potassium channel.

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8.

Benson DW et. al. (1996) Missense mutation in the pore region of HERG causes familial long QT syndrome.

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9.

Satler CA et. al. (1996) Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome.

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10.

Li X et. al. (1997) The human delta1261 mutation of the HERG potassium channel results in a truncated protein that contains a subunit interaction domain and decreases the channel expression.

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11.

Tanaka T et. al. (1997) Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.

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12.

Satler CA et. al. (1998) Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome.

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13.

Itoh T et. al. (1998) Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome.

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14.

Splawski I et. al. (1998) Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.

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15.

Zhou Z et. al. (1998) HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects.

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16.

Zareba W et. al. (1998) Influence of genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group.

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17.

Priori SG et. al. (1999) Low penetrance in the long-QT syndrome: clinical impact.

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18.

Berthet M et. al. (1999) C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence.

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19.

Jongbloed RJ et. al. (1999) Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.

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20.

Larsen LA et. al. (2000) Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2.

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21.

Kagan A et. al. (2000) The dominant negative LQT2 mutation A561V reduces wild-type HERG expression.

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22.

Splawski I et. al. (2000) Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

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23.

Nakajima T et. al. (2000) Characterization of S818L mutation in HERG C-terminus in LQT2. Modification of activation-deactivation gating properties.

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24.

Yoshida H et. al. (2001) Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG.

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25.

Gussak I et. al. (2000) Idiopathic short QT interval: a new clinical syndrome?

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26.

Moss AJ et. al. (2002) Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel.

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27.

Yang P et. al. (2002) Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.

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28.

Kupershmidt S et. al. (2002) Defective human Ether-à-go-go-related gene trafficking linked to an endoplasmic reticulum retention signal in the C terminus.

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29.

Paulussen A et. al. (2002) A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency.

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30.

Lees-Miller JP et. al. (2003) Selective knockout of mouse ERG1 B potassium channel eliminates I(Kr) in adult ventricular myocytes and elicits episodes of abrupt sinus bradycardia.

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31.

Johnson WH et. al. (2003) Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome.

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32.

Ficker E et. al. (2003) Role of the cytosolic chaperones Hsp70 and Hsp90 in maturation of the cardiac potassium channel HERG.

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33.

Gaita F et. al. (2003) Short QT Syndrome: a familial cause of sudden death.

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34.

Brugada R et. al. (2004) Sudden death associated with short-QT syndrome linked to mutations in HERG.

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35.

Westenskow P et. al. (2004) Compound mutations: a common cause of severe long-QT syndrome.

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36.

Gong Q et. al. (2005) Degradation of trafficking-defective long QT syndrome type II mutant channels by the ubiquitin-proteasome pathway.

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37.

Hong K et. al. (2005) Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.

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38.

Tester DJ et. al. (2005) Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

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39.

Gong Q et. al. (2006) Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome.

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40.

Millat G et. al. (2006) Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

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41.

Vatta M et. al. (2006) Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.

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42.

Xiao J et. al. (2007) MicroRNA miR-133 represses HERG K+ channel expression contributing to QT prolongation in diabetic hearts.

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43.

Amin AS et. al. (2008) Fever-induced QTc prolongation and ventricular arrhythmias in individuals with type 2 congenital long QT syndrome.

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44.

Tenenbaum M et. al. (2008) Identification of the gene causing long QT syndrome in an Israeli family.

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45.

Huffaker SJ et. al. (2009) A primate-specific, brain isoform of KCNH2 affects cortical physiology, cognition, neuronal repolarization and risk of schizophrenia.

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46.

Rihel J et. al. (2010) Zebrafish behavioral profiling links drugs to biological targets and rest/wake regulation.

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47.

Itzhaki I et. al. (2011) Modelling the long QT syndrome with induced pluripotent stem cells.

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48.

Gianulis EC et. al. (2011) Rescue of aberrant gating by a genetically encoded PAS (Per-Arnt-Sim) domain in several long QT syndrome mutant human ether-á-go-go-related gene potassium channels.

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