Recurrent intrauterine fetal loss due to near absence of HERG: clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation.
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hERG channel function: beyond long QTCongenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia.Identification of a novel KCNQ1 mutation in a large Saudi family with long QT syndrome: clinical consequences and preventive implications.Inherited long QT syndrome: clinical manifestation, genetic diagnostics, and therapy.Congenital long QT syndrome with compound mutations in the KCNH2 gene.Genetic analysis of Iranian family with hereditary cardiac arrhythmias by next generation sequencing.A common single nucleotide polymorphism can exacerbate long-QT type 2 syndrome leading to sudden infant death.Position of premature termination codons determines susceptibility of hERG mutations to nonsense-mediated mRNA decay in long QT syndromeMultiple splicing defects caused by hERG splice site mutation 2592+1G>A associated with long QT syndrome.Inhibition of nonsense-mediated mRNA decay by antisense morpholino oligonucleotides restores functional expression of hERG nonsense and frameshift mutations in long-QT syndromeProgesterone impairs human ether-a-go-go-related gene (HERG) trafficking by disruption of intracellular cholesterol homeostasis.Nonsense-mediated mRNA decay caused by a frameshift mutation in a large kindred of type 2 long QT syndrome.Long QT syndrome-associated mutations in intrauterine fetal death.Molecular Pathophysiology of Congenital Long QT Syndrome.Early LQT2 nonsense mutation generates N-terminally truncated hERG channels with altered gating properties by the reinitiation of translation.Multiscale cardiac modelling reveals the origins of notched T waves in long QT syndrome type 2.Nonsense-Mediated mRNA Decay of hERG Mutations in Long QT Syndrome.Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.A Potential Diagnostic Approach for Foetal Long-QT Syndrome, Developed and Validated in Children
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P2860
Recurrent intrauterine fetal loss due to near absence of HERG: clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation.
description
article científic
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article scientifique
@fr
articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 29 January 2008
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Recurrent intrauterine fetal l ...... nonsense HERG Q1070X mutation.
@en
Recurrent intrauterine fetal l ...... nonsense HERG Q1070X mutation.
@nl
type
label
Recurrent intrauterine fetal l ...... nonsense HERG Q1070X mutation.
@en
Recurrent intrauterine fetal l ...... nonsense HERG Q1070X mutation.
@nl
prefLabel
Recurrent intrauterine fetal l ...... nonsense HERG Q1070X mutation.
@en
Recurrent intrauterine fetal l ...... nonsense HERG Q1070X mutation.
@nl
P2093
P2860
P1433
P1476
Recurrent intrauterine fetal l ...... nonsense HERG Q1070X mutation.
@en
P2093
Ahmad S Amin
Julene S Carvalho
Marcel M A M Mannens
Qiuming Gong
Saleh Al Ghamdi
Tarek S Momenah
Tessa Homfray
Zahurul A Bhuiyan
Zhengfeng Zhou
P2860
P304
P356
10.1016/J.HRTHM.2008.01.020
P577
2008-01-29T00:00:00Z