Results 111 to 120 of about 2,693,618 (154)

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., Heide,Juliane, Shannon Weickert,Cynthia   +2 more
core  

[KCNQ1, KCNH2, KCNE1 and KCNE2 potassium channels gene variants in sudden manhood death syndrome].

Fa yi xue za zhi, 2015
To investigate KCNQ1, KCNH2, KCNE1 and KCNE2 gene variants in the cases of sudden manhood death syndrome (SMDS).One hundred and sixteen sporadic cases of SMDS and one hundred and twenty-five healthy controlled samples were enrolled. Genomic DNA was extracted from blood samples.
Qian-hao, Zhao, Chao, Liu, Long-wu, Lu, Guo-li, Lü, Hong, Liu, Shuang-bo, Tang, Li, Quan, Jian-ding, Cheng   +7 more
openaire   +1 more source

The lack of effect of sotalol in short QT syndrome patients carrying the T618I mutation in the KCNH2 gene [PDF]

HeartRhythm Case Reports, 2015
GIUSTETTO, Carla, SCROCCO, Chiara, GIACHINO, Daniela Francesca, Rapezzi, Claudio, MOGNETTI, Barbara, GAITA, Fiorenzo   +5 more
openaire   +4 more sources

Molecular Analysis of KCNQ1, KCNH2 and SCN5A Genes in Iranian Patients with Long QT Syndrome

Journal of Molecular and Genetic Medicine, 2018
Amirian A, Karimipoor M, Zafari Z, Kallhor M, Dalili M, Saber S, Fazelifar AF, Zeinali S   +7 more
openaire   +1 more source

Gene Symbol: KCNH2 Disease: Long QT syndrome

, 2007
Crotti, L, Pedrazzini, M, Ferrandi, C, Insolia, R, Tosin, L, Vicentini, A, Turco, A, De Ferrari, GM, Schwartz, PJ   +8 more
openaire   +3 more sources

Novel mutation (H402R) in the S1 domain of KCNH2-encoded gene associated with long QT syndrome in a Spanish family

International Journal of Cardiology, 2010
El síndrome de QT largo es una cardiopatía congénita que produce arritmias ventriculares y muerte súbita. Se han descrito mutaciones genéticas en dos genes de canales iónicos proteicos, KCNQ1 y KCNH2.
Maria J García-Torrent
exaly   +2 more sources

A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome

American Journal of Human Genetics, 2022
Modern sequencing technologies have revolutionized our detection of gene variants. However, in most genes, including KCNH2, the majority of missense variants are currently classified as variants of uncertain significance (VUSs). The aim of this study was
Jamie Vandenberg, Jessica Farr, Rizwan Ullah   +2 more
exaly   +2 more sources

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Suppression and Replacement Gene Therapy for KCNH2 -Mediated Arrhythmias

Circulation: Genomic and Precision Medicine, 2022
Background: KCNH2 -mediated arrhythmia syndromes are caused by loss-of-function (type 2 long QT syndrome [LQT2]) or gain-of-function (type 1 short QT syndrome [SQT1]) pathogenic variants in the KCNH2 -encoded K
Sahej Bains, Wei Zhou, Steven M. Dotzler, Katherine Martinez, CS John Kim, David J. Tester, Dan Ye, Michael J. Ackerman   +7 more
openaire   +2 more sources

Congenital long QT syndrome with compound mutations in the KCNH2 gene

Heart and Vessels, 2013
Congenital long QT syndrome is a genetic disorder encompassing a family of mutations that can lead to aberrant ventricular electrical activity. We report on two brothers with long QT syndrome caused by compound mutations in the KCNH2 gene inherited from parents who had no prolonged QT interval on electrocardiography.
Masashi Akaike, Masataka Sata, Tomomi Matsuura   +2 more
exaly   +3 more sources

New insights of the role of the KCNH2 gene in schizophrenia: An fMRI case-control study

European Neuropsychopharmacology, 2022
The KCNH2 gene, encoding for a subunit of a voltage-gated potassium channel, has been identified as a key element of neuronal excitability and a promising novel therapeutic target for schizophrenia (SZ). Nonetheless, evidence highlighting the role of KCNH2 on cognitive and brain activity phenotypes comes mainly from studies based on healthy controls ...
Maria Guardiola-Ripoll, Carmen Almodóvar-Payá, Alba Lubeiro, Raymond Salvador, Pilar Salgado-Pineda, Jesús J Gomar, Amalia Guerrero-Pedraza, Salvador Sarró, Teresa Maristany, Inés Fernández-Linsenbarth, Marta Hernández-García, Sergi Papiol, Vicente Molina, Edith Pomarol-Clotet, Mar Fatjó-Vilas   +14 more
openaire   +3 more sources