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ProteomicsT he proteostasis interactomes of trafficking - deficient K V 11.1 variants associated with Long QT Syndrome and pharmacological chaperone rescue
The voltage gated potassium ion channel KV11.1 plays a critical role in cardiac repolarization. Genetic variants that render Kv11.1 dysfunctional cause Long QT Syndrome (LQTS), which is associated with fatal arrhythmias. Approximately 90% of LQTS-associated variants cause intracellular protein trans...
ORGANISM(S): Homo sapiens (Human) 
2024-08-10 | PXD050914 | Pride
Herg Long qt syndrome Ion channel Trafficking K v 11.1 Interactome 
GenomicsModeling long QT syndrome using gene-edited pigs
Modeling long QT syndrome using gene-edited pigs
PRJNA1216026 | ENA
GenomicssnRNAseq for Modeling long QT syndrome using gene-edited pigs
snRNAseq for Modeling long QT syndrome using gene-edited pigs
PRJNA1322450 | ENA
GenomicsPGRN-RIKEN:Genome-Wide Association Study of Drug-Induced Long-QT Syndrome
PGRN-RIKEN:Genome-Wide Association Study of Drug-Induced Long-QT Syndrome
PRJNA75677 | ENA
ModelsClancy2001_Kchannel
This model is according to the paper Cellular consequences of HEGR mutations in the long QT syndrome: precursors to sudden cardiac death. The author used Markovian model of cardiac Ikr in the paper. Figure4B in the paper has been reproduced using CellDesigner3.5.1. The cell is depola...
2024-09-02 | BIOMD0000000121 | BioModels
Genomics
Cases of Recurrent Syncope Caused Gene Mutation in Congenital Long QT Syndrome
PRJNA1449160 | ENA
Genomics
Long QT syndrome of Female ecuadorian patient
PRJNA1536456 | ENA
UnknownMolecular Pathophysiology of Congenital Long QT Syndrome.
Not available
S-EPMC5539372 | biostudies-literature
GenomicsDetection of distant relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT Syndrome
Detection of distant relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT Syndrome
PRJNA1125511 | ENA
GenomicsDetection of distant relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT Syndrome
Detection of distant relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT Syndrome
PRJNA1125510 | ENA
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