From gene regulation to membrane excitability: A new role for thyroid hormone in skeletal muscle
The Journal of Physiology, EarlyView.
Eric N. Jimenez‐Vazquez +1 more
wiley +1 more source
KCNH2 pharmacogenomics summary [PDF]
Pharmacogenetics and Genomics, 2010 Connie, Oshiro +4 more
openaire +2 more sources
Integration of validated functional evidence to support the pathogenicity of KCNH2 variants
Genetics in Medicine OpenFunctional investigation of genetic variants found in long QT syndrome can provide evidence that is needed to confirm the genetic diagnosis and establish the cause of the condition. We performed functional assessment to determine the z-score, using a clinically calibrated automated patch clamp assay, for 2 missense KCNH2 variants found in 2 families ...
Reema W. Aljassar +5 more
openaire +3 more sources
Neonatal death of siblings with Uhl’s disease and KCNH2 mutation - A rare association
Annals of Pediatric CardiologyABSTRACT Uhl’s disease is a rare disorder secondary to the uncontrolled destruction of right ventricular myocytes during the perinatal period. We present here the case of a 1-month-old child who died suddenly of Uhl’s disease, which was only diagnosed at autopsy and histological examination.
Ventura, Francesco +5 more
openaire +3 more sources
Expression of KCNH2-3.1 mRNA is increased in small neurons in the dorsolateral prefrontal cortex in patients with schizophrenia [PDF]
, 2015 Background and Objectives: Abnormalities in neuronal firing, controlled and organised by a series of voltage-gated ion channels, may contribute to the pathogenesis of schizophrenia.
Vandenberg,Jamie I. +2 more
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Role of KCNH2 potassium channels in the pathogenesis of schizophrenia
, 2013 Schizophrenia is a devastating mental disorder characterized by hallucinations, delusions, cognitive and behavioural issues. Single nucleotide polymorphisms in the second intron of the KCNH2 gene, significantly associated with the diagnosis of schizophrenia, promote transcription of a truncated Kv11.1 potassium channel isoform, Kv11.1-3.1.
openaire +2 more sources
Arquivos Brasileiros de Cardiologia, 2011 FUNDAMENTO: A síndrome do QT longo (SQTL) é uma síndrome arrítmica herdada com aumento do intervalo QT e risco de morte súbita. Mutações nos genes KCNQ1, KCNH2 e SCN5A respondem por 90% dos casos com genótipo determinado, e a genotipagem é informativa ...
Ernesto Curty +7 more
doaj
Investigação de variantes gênicas de canais iônicos em pacientes com síndrome do QT longo
Arquivos Brasileiros de Cardiologia, 2011 FUNDAMENTO: A síndrome do QT longo (SQTL) é uma síndrome arrítmica herdada com aumento do intervalo QT e risco de morte súbita. Mutações nos genes KCNQ1, KCNH2 e SCN5A respondem por 90% dos casos com genótipo determinado, e a genotipagem é informativa ...
Ernesto Curty +7 more
doaj
Sinus Bradycardia and Long QT Syndrome: Double Heterozygosity for Variants in KCNH2 and HCN4
CardiogeneticsIntroduction: Clinical variability within families harbouring disease-causing genetic variants hampers clinical care and risk stratification. We studied a multigenerational family presenting with sinus bradycardia and long QT syndrome type 2 (LQTS2). The
Jaël S. Copier +10 more
doaj +1 more source
Digenic heterozygosity in KCNQ1 and KCNH2 genes causes severe long QT phenotype
, 2010 Long QT syndrome (LQTS) is an inherited arrhythmic disorder associated with QT interval prolongation on ECG, syncope, torsade de pointes and sudden cardiac death in young patients.
A. Zullo +7 more
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