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.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
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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2. |
Benson DW et al. (1996) Missense mutation in the pore region of HERG causes familial long QT syndrome.
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3. |
Satler CA et al. (1996) Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome.
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4. |
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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5. |
Tanaka T et al. (1997) Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.
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6. |
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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7. |
Itoh T et al. (1998) Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome.
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8. |
Splawski I et al. (1998) Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.
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9. |
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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10. |
Kagan A et al. (2000) The dominant negative LQT2 mutation A561V reduces wild-type HERG expression.
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11. |
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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12. |
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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13. |
Priori SG et al. (1999) Low penetrance in the long-QT syndrome: clinical impact.
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14. |
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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15. |
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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16. |
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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17. |
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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18. |
Gong Q et al. (2006) Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome.
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19. |
Vatta M et al. (2006) Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.
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20. |
Xiao J et al. (2007) MicroRNA miR-133 represses HERG K+ channel expression contributing to QT prolongation in diabetic hearts.
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21. |
Tenenbaum M et al. (2008) Identification of the gene causing long QT syndrome in an Israeli family.
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22. |
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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23. |
Rihel J et al. (2010) Zebrafish behavioral profiling links drugs to biological targets and rest/wake regulation.
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24. |
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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25. |
None (1996) The inconstancy of the human heart.
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26. |
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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27. |
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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28. |
Jongbloed RJ et al. (1999) Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.
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29. |
Splawski I et al. (2000) Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
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30. |
Yang P et al. (2002) Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.
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31. |
Westenskow P et al. (2004) Compound mutations: a common cause of severe long-QT syndrome.
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32. |
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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33. |
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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34. |
Curran ME et al. (1995) A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.
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35. |
Zhou Z et al. (1998) HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects.
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36. |
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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37. |
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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38. |
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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39. |
Itzhaki I et al. (2011) Modelling the long QT syndrome with induced pluripotent stem cells.
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40. |
Hong K et al. (2005) Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.
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41. |
Gussak I et al. (2000) Idiopathic short QT interval: a new clinical syndrome?
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42. |
Gaita F et al. (2003) Short QT Syndrome: a familial cause of sudden death.
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43. |
Brugada R et al. (2004) Sudden death associated with short-QT syndrome linked to mutations in HERG.
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44. |
Trudeau MC et al. (1995) HERG, a human inward rectifier in the voltage-gated potassium channel family.
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45. |
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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46. |
Warmke JW et al. (1994) A family of potassium channel genes related to eag in Drosophila and mammals.
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47. |
Thomas PJ et al. (1995) Defective protein folding as a basis of human disease.
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48. |
Smith PL et al. (1996) The inward rectification mechanism of the HERG cardiac potassium channel.
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49. |
Orphanet article
Orphanet ID 122777
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50. |
NCBI article
NCBI 3757
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51. |
OMIM.ORG article
Omim 152427
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52. |
Wikipedia Artikel
Wikipedia DE (HERG-Kanal)
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Update: 14. August 2020