Results 21 to 30 of about 9,233 (239)

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

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

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

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

Congenital Long QT Syndrome with Compound Mutations in KCNH2 Gene

Journal of Arrhythmia, 2011
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.
Sachiko Bando, Takeshi Soeki, Toshiyuki Niki, Kenya Kusunose, Koji Yamaguchi, Yoshio Taketani, Takashi Iwase, Hirotsugu Yamada, Tetsuzo Wakatsuki, Wataru Simizu, Masataka Sata   +10 more
openalex   +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

Derivation and characterization of two human induced pluripotent stem cell lines (NUIGi004-A) and (NUIGi012-A) from two patients with LQT2 disease

Stem Cell Research, 2021
Long QT syndrome type 2 (LQT2) is associated with KCNH2, which encodes the α subunit of the ion channel that controls the K+ current in the heart. Mutations of KCNH2 cause loss of Kv11.1 channel function by disrupting subunit folding, assembly, or ...
Min Liu, Ning Ge, Jianhua Zhang, Meimei Yang, Fan Yang, Janusz Krawczyk, Deirdre Ward, Veronica McInerney, Timothy O'Brien, Sanbing Shen, Terence Prendiville   +10 more
doaj   +1 more source

The Linkage Phase of the Polymorphism KCNH2-K897T Influences the Electrophysiological Phenotype in hiPSC Models of LQT2

Frontiers in Physiology, 2021
While rare mutations in ion channel genes are primarily responsible for inherited cardiac arrhythmias, common genetic variants are also an important contributor to the clinical heterogeneity observed among mutation carriers.
Lettine van den Brink, Karina O. Brandão, Loukia Yiangou, Albert Blanch-Asensio, Mervyn P. H. Mol, Christine L. Mummery, Christine L. Mummery, Arie O. Verkerk, Richard P. Davis   +8 more
doaj   +1 more source

Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases [PDF]

, 2020
Aims The genetic cause of cardiac conduction system disease (CCSD) has not been fully elucidated. Whole-exome sequencing (WES) can detect various genetic variants; however, the identification of pathogenic variants remains a challenge.
Asano, Yoshihiro, Beerens, Manu, Burch, Micah L, Buys, Eva, Chiang, David Y, Cui, Shihe, Fujino, Noboru, Fujita, Takashi, Funada, Akira, Furusho, Hiroshi, Hayashi, Kenshi, Hodatsu, Akihiko, Inoue, Masaru, Kaku, Bunji, Kato, Takeshi, Kawashiri, Masa-aki, Kelly, Amy E, Kita, Yoshihito, Kiviniemi, Tuomas O, Kobayashi, Isao, Konno, Tetsuo, Kurata, Yasutaka, MacRae, Calum A, Nagata, Yoji, Nakanishi, Chiaki, Namura, Masanobu, Nomura, Akihiro, Oe, Kotaro, Okada, Hirofumi, Onoue, Kenji, Saito, Yoshihiko, Sakamoto, Yuichiro, Sakata, Kenji, Sips, Patrick, Tada, Hayato, Takamura, Masayuki, Takashima, Seiji, Takeda, Yuko, Tanaka, Yoshihiro, Teramoto, Ryota, Tsuchiya, Taketsugu, Tsuda, Toyonobu, Usuda, Keiich, Yamagishi, Masakazu, Zhao, Yanbin   +44 more
core   +1 more source

Hydroxymethylation of microRNA-365-3p Regulates Nociceptive Behaviors via Kcnh2 [PDF]

The Journal of Neuroscience, 2016
DNA 5-hydroxylmethylcytosine (5hmC) catalyzed by ten-eleven translocation methylcytosine dioxygenase (TET) occurs abundantly in neurons of mammals. However, thein vivocausal link between TET dysregulation and nociceptive modulation has not been established.
Zhiqiang, Pan, Ming, Zhang, Tao, Ma, Zhou-Ya, Xue, Guo-Fang, Li, Ling-Yun, Hao, Li-Jiao, Zhu, Yan-Qiang, Li, Hai-Lei, Ding, Jun-Li, Cao   +9 more
openaire   +2 more sources