Results 21 to 30 of about 9,256 (240)

Kcnh2 deletion is associated with rat embryonic development defects via destruction of KCNH2‑integrin β1 complex

International Journal of Molecular Medicine, 2023
The Kv11.1 potassium channel encoded by the Kcnh2 gene is crucial in conducting the rapid delayed rectifier K+ current in cardiomyocytes. Homozygous mutation in Kcnh2 is embryonically lethal in humans and mice. However, the molecular signaling pathway of intrauterine fetal loss is unclear.
Hu, Sangyu, Li, Zhigang, Liu, Huan, Cao, Wenze, Meng, Yilei, Liu, Chang, He, Siyu, Lin, Qin, Shang, Mengyue, Lin, Fang, Yi, Na, Wang, Hanrui, Sachinidis, Agapios, Ying, Qilong, Li, Li, Peng, Luying   +15 more
openaire   +2 more sources

Loss‐of‐function variants in Kv11.1 cardiac channels as a biomarker for SUDEP

Annals of Clinical and Translational Neurology, 2021
Objective To compare the frequency and impact on the channel function of KCNH2 variants in SUDEP patients with epilepsy controls comprising patients older than 50 years, a group with low SUDEP risk, and establish loss‐of‐function KCNH2 variants as ...
Ming S. Soh, Richard D. Bagnall, Mark F. Bennett, Lauren E. Bleakley, Erlina S. Mohamed Syazwan, A. Marie Phillips, Mathew D. F. Chiam, Chaseley E. McKenzie, Michael Hildebrand, Douglas Crompton, Melanie Bahlo, Christopher Semsarian, Ingrid E. Scheffer, Samuel F. Berkovic, Christopher A. Reid   +14 more
doaj   +1 more source

Integrated analysis of the voltage-gated potassium channel-associated gene KCNH2 across cancers

BMC Bioinformatics, 2023
KCNH2 encodes the human ether-a-go-go-related gene (hERG) potassium channel and is an important repolarization reserve for regulating cardiac electrical activity. Increasing evidence suggests that it is involved in the development of various tumours, yet
Zequn Zheng, Yongfei Song
doaj   +1 more source

Case Report: A novel KNCH2 variant-induced fetal heart block and the advantages of fetal genomic sequencing in prenatal long-term dexamethasone exposure

Frontiers in Genetics, 2022
Background: Fetal bradycardia is a common but severe condition. In addition to autoimmune-mediated fetal heart block, several types of channelopathies induce high-degree atrioventricular block (AVB).
Huiping Huang, Huiping Huang, Siyuan Jing, Shaoying Wu, Li Wei, Qian Zhang, Yimin Hua, Yifei Li, Haiyan Yu, Kaiyu Zhou   +9 more
doaj   +1 more source

Fetal Long QT Syndrome: Case Series and Literature Review With Focus on Multidisciplinary Care Coordination. [PDF]

Case Rep Cardiol
Congenital long QT syndrome (LQTS) is a group of heritable conditions that are associated with cardiac repolarization abnormality characterized by QT prolongation on ECG and risk of life‐threatening arrhythmias. Prenatal detection of LQTS presents many challenges for clinicians and a multidisciplinary approach is needed for optimal prenatal and ...
Samples S, Cherny S, Chandler S, Wakai RT, Strasburger JF, Patel S.   +5 more
europepmc   +2 more sources

Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes [PDF]

, 2020
Background: Accurate interpretation of rare genetic variants is a challenge for clinical translation. Updates in recommendations for rare variant classification require the reanalysis and reclassification.
Abou Tayoun, Ackerman, Ackerman, Amendola, Bennett, Blekhman, Bombard, Campuzano, Chen, David, Denham, Dunn, Eilbeck, El Mecky, Harrison, Kobayashi, Lek, Macklin, Moreno, Priori, Richards, Richards, Semsarian, Smith, Tsai, Vears, Walsh, Wordsworth   +27 more
core   +1 more source

Establishment of human embryonic stem cell WAe009-A-88 carrying a long QT syndrome mutation in KCNH2

Stem Cell Research, 2022
Long-QT syndrome type 2 (LQT2) is a life-threatening Mendelian disease caused by genetic variants in KCNH2. Herein, we generated a human embryonic stem cell line (WAe009-A-88) carrying a LQT2 related mutation in KCNH2, c.1720 A>G.
Hong Wen, Lixiang Sun, Jiaqi Zhong, Fujian Wu   +3 more
doaj   +1 more source

Novel mutation in the KCNH2 gene associated with long QT syndrome

Revista Portuguesa de Cardiologia (English Edition), 2013
Doroteia Silva, Gábriel Miltenberger-Miltényi, Maria José Correia, António Nunes Diogo   +3 more
openalex   +4 more sources

Anesthetic Care of a Child Harboring the KCNH2 Gene

Journal of Medical Cases, 2022
Epilepsy is a heterogeneous group of disorders characterized by recurrent and generally unprovoked seizures. Genetic mutations may play an important role in the etiology of epilepsy. Over the past few years, genetic mutations in various genes have been identified in patients with epilepsy.
Ghimire, Anuranjan, Banoub, Rita W., Tobias, Joseph D.   +2 more
openaire   +2 more sources

A standardised hERG phenotyping pipeline to evaluate KCNH2 genetic variant pathogenicity [PDF]

Clinical and Translational Medicine, 2021
AbstractBackground and aimsMutations in KCNH2 cause long or short QT syndromes (LQTS or SQTS) predisposing to life‐threatening arrhythmias. Over 1000 hERG variants have been described by clinicians, but most remain to be characterised. The objective is to standardise and accelerate the phenotyping process to contribute to clinician diagnosis and ...
Oliveira‐mendes, Barbara, Feliciangeli, Sylvain, Ménard, Mélissa, Chatelain, Frank, Alameh, Malak, Montnach, Jérôme, Nicolas, Sébastien, Ollivier, Béatrice, Barc, Julien, Baró, Isabelle, Schott, Jean-Jacques, Probst, Vincent, Kyndt, Florence, Denjoy, Isabelle, Lesage, Florian, Loussouarn, Gildas, de Waard, Michel   +16 more
openaire   +4 more sources