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Select item 111156171.

Regulation of HERG (KCNH2) potassium channel surface expression by diacylglycerol

Cia Ramström, Hugh Chapman, Tero Viitanen, Emad Afrasiabi, Heli Fox, Johanna Kivelä, Sanna Soini, Laura Korhonen, Dan Lindholm, Michael Pasternack, Kid Törnquist

Cell Mol Life Sci. 2010 Jan; 67(1): 157–169. Published online 2009 Oct 27. doi: 10.1007/s00018-009-0176-2

PMCID:: PMC11115617

Abstract Article PDF–512K

Select item 110810022.

Functional Invalidation of Putative Sudden Infant Death Syndrome-Associated Variants in the KCNH2-Encoded Kv11.1 Channel

Jennifer L. Smith, David J. Tester, Allison R. Hall, Don E. Burgess, Chun-Chun Hsu, Samy Claude Elayi, Corey L. Anderson, Craig T. January, Jonathan Z. Luo, Dustin N. Hartzel, Uyenlinh L. Mirshahi, Michael F. Murray, Tooraj Mirshahi, Michael J. Ackerman, Brian P. Delisle

Circ Arrhythm Electrophysiol. Author manuscript; available in PMC 2024 May 9.

Published in final edited form as: Circ Arrhythm Electrophysiol. 2018 May; 11(5): e005859. doi: 10.1161/CIRCEP.117.005859

PMCID:: PMC11081002

Abstract Article PDF–1.2M

Select item 108403343.

Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay

Kate L. Thomson, Connie Jiang, Ebony Richardson, Dominik S. Westphal, Tobias Burkard, Cordula M. Wolf, Matteo Vatta, Steven M. Harrison, Jodie Ingles, Connie R. Bezzina, Brett M. Kroncke, Jamie I. Vandenberg, Chai-Ann Ng

HGG Adv. 2024 Apr 11; 5(2): 100270. Published online 2024 Jan 14. doi: 10.1016/j.xhgg.2024.100270

PMCID:: PMC10840334

Abstract Article PDF–1.8M

Select item 107690134.

Identification and characterization of two novel KCNH2 mutations contributing to long QT syndrome

Anthony Owusu-Mensah, Jacqueline Treat, Joyce Bernardi, Ryan Pfeiffer, Robert Goodrow, Bright Tsevi, Victoria Lam, Michel Audette, Jonathan M. Cordeiro, Makarand Deo

PLoS One. 2024; 19(1): e0287206. Published online 2024 Jan 5. doi: 10.1371/journal.pone.0287206

PMCID:: PMC10769013

Abstract Article PDF–2.5M

Select item 107510505.

KCNH2_A561V Heterozygous Mutation Inhibits KCNH2 Protein Expression via The Activation of UPR Mediated by ATF6

Bangsheng CHEN, Lian TAN, Danqi CHEN, Xinghou WANG, Jiequan LIU, Xiaoyan HUANG, Ying WANG, Shuaishuai HUANG, Feiyan MAO, Jiangfang LIAN

Physiol Res. 2023 Oct; 72(5): 621–631. Published online 2023 Oct 31. doi: 10.33549/physiolres.935095

PMCID:: PMC10751050

Abstract Article PDF–1.6M

Select item 107173806.

Comparison of protein behavior between wild-type and G601S hERG in living cells by fluorescence correlation spectroscopy

Eri H. Hayakawa, Michiko Furutani, Rumiko Matsuoka, Yuichi Takakuwa

J Physiol Sci. 2011 Jul; 61(4): 313–319. Published online 2011 May 15. doi: 10.1007/s12576-011-0150-2

PMCID:: PMC10717380

Abstract Article PDF–408K

Select item 106245977.

Integrins regulate hERG1 dynamics by girdin-dependent Gαi3: signaling and modeling in cancer cells

Claudia Duranti, Jessica Iorio, Giacomo Bagni, Ginevra Chioccioli Altadonna, Thibault Fillion, Matteo Lulli, Franco Nicolas D’Alessandro, Alberto Montalbano, Elena Lastraioli, Duccio Fanelli, Stefano Coppola, Thomas Schmidt, Francesco Piazza, Andrea Becchetti, Annarosa Arcangeli

Life Sci Alliance. 2024 Jan; 7(1): e202302135. Published online 2023 Nov 3. doi: 10.26508/lsa.202302135

PMCID:: PMC10624597

Abstract Article PDF–5.5M

Select item 105621468.

KCNH2 mutation c.3099_3112del causes congenital long QT syndrome type 2 with gender differences

ZunPing Ke, Chao Li, Gang Bai, Li Tan, JunFeng Wang, Ming Zhou, JianHua Zhou, Shi-You Chen, Xiao Dong

Clinics (Sao Paulo) 2023 Jan-Dec; 78: 100285. Published online 2023 Sep 30. doi: 10.1016/j.clinsp.2023.100285

PMCID:: PMC10562146

Abstract Article PDF–2.3M

Select item 103109789.

Mechanisms of fever-induced QT prolongation and torsades de pointes in patients with KCNH2 mutation

Keisuke Usuda, Kenshi Hayashi, Tadashi Nakajima, Yasutaka Kurata, Shihe Cui, Takashi Kusayama, Toyonobu Tsuda, Hayato Tada, Takeshi Kato, Kenji Sakata, Soichiro Usui, Noboru Fujino, Yoshihiro Tanaka, Yoshiaki Kaneko, Masahiko Kurabayashi, Shoichi Tange, Takekatsu Saito, Kunio Ohta, Masakazu Yamagishi, Masayuki Takamura

Europace. 2023 Jun; 25(6): euad161. Published online 2023 Jun 30. doi: 10.1093/europace/euad161

PMCID:: PMC10310978

Abstract Article PDF–2.4M

Select item 1010588910.

Non-missense variants of KCNH2 show better outcomes in type 2 long QT syndrome

Takanori Aizawa, Yuko Wada, Kanae Hasegawa, Hai Huang, Tomohiko Imamura, Jingshan Gao, Asami Kashiwa, Hirohiko Kohjitani, Megumi Fukuyama, Koichi Kato, Eri Toda Kato, Takashi Hisamatsu, Seiko Ohno, Takeru Makiyama, Takeshi Kimura, Minoru Horie

Europace. 2023 Apr; 25(4): 1491–1499. Published online 2023 Mar 2. doi: 10.1093/europace/euac269

PMCID:: PMC10105889

Abstract Article PDF–861K

Select item 1002625611.

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance

Jaël S Copier, Marianne Bootsma, Chai A Ng, Arthur A M Wilde, Robin A Bertels, Hennie Bikker, Imke Christiaans, Saskia N van der Crabben, Janna A Hol, Tamara T Koopmann, Jeroen Knijnenburg, Aafke A J Lommerse, Jasper J van der Smagt, Connie R Bezzina, Jamie I Vandenberg, Arie O Verkerk, Daniela Q C M Barge-Schaapveld, Elisabeth M Lodder

Hum Mol Genet. 2023 Apr 1; 32(7): 1072–1082. Published online 2022 Oct 21. doi: 10.1093/hmg/ddac261

PMCID:: PMC10026256

Abstract Article PDF–1.7M

Select item 997116412.

Noncanonical electromechanical coupling paths in cardiac hERG potassium channel

Carlos A. Z. Bassetto, Jr, Flavio Costa, Carlo Guardiani, Francisco Bezanilla, Alberto Giacomello

Nat Commun. 2023; 14: 1110. Published online 2023 Feb 27. doi: 10.1038/s41467-023-36730-7

PMCID:: PMC9971164

Abstract Article PDF–8.0M

Select item 993430313.

KCNH2 encodes a nuclear-targeted polypeptide that mediates hERG1 channel gating and expression

Abhilasha Jain, Olivia Stack, Saba Ghodrati, Francisco G. Sanchez-Conde, Chiamaka U. Ukachukwu, Shreya Salwi, Eric N. Jimenez-Vazquez, David K. Jones

Proc Natl Acad Sci U S A. 2023 Jan 17; 120(3): e2214700120. Published online 2023 Jan 10. doi: 10.1073/pnas.2214700120

PMCID:: PMC9934303

Abstract Article PDF–12M

Select item 993325714.

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

Zequn Zheng, Yongfei Song

BMC Bioinformatics. 2023; 24: 51. Published online 2023 Feb 15. doi: 10.1186/s12859-023-05180-9

PMCID:: PMC9933257

Abstract Article PDF–9.6M

Select item 986798415.

hERG1 channel subunit composition mediates proton inhibition of rapid delayed rectifier potassium current (I_Kr) in cardiomyocytes derived from hiPSCs

Chiamaka U. Ukachukwu, Eric N. Jimenez-Vazquez, Abhilasha Jain, David K. Jones

J Biol Chem. 2023 Feb; 299(2): 102778. Published online 2022 Dec 8. doi: 10.1016/j.jbc.2022.102778

PMCID:: PMC9867984

Abstract Article PDF–3.6M

Select item 983417916.

Same family, same mutation, different ECG

Kürşat Akbuğa, Mustafa Karanfil

Mol Genet Genomic Med. 2023 Jan; 11(1): e2079. Published online 2022 Oct 28. doi: 10.1002/mgg3.2079

PMCID:: PMC9834179

Abstract Article PDF–1.1M

Select item 974837217.

The voltage-sensing domain of a hERG1 mutant is a cation-selective channel

Meruyert Kudaibergenova, Jiqing Guo, Hanif M. Khan, James Lees-Miller, Mahdi Mousaei, Williams Miranda, Van A. Ngo, Sergei Yu Noskov, D. Peter Tieleman, Henry J. Duff

Biophys J. 2022 Dec 6; 121(23): 4585–4599. Published online 2022 Oct 29. doi: 10.1016/j.bpj.2022.10.032

PMCID:: PMC9748372

Abstract Article PDF–2.3M

Select item 969117418.

Analysis of CACNA1C and KCNH2 Risk Variants on Cardiac Autonomic Function in Patients with Schizophrenia

Alexander Refisch, Shoko Komatsuzaki, Martin Ungelenk, Andy Schumann, Ha-Yeun Chung, Susann S. Schilling, Wibke Jantzen, Sabine Schröder, Markus M. Nöthen, Thomas W. Mühleisen, Christian A. Hübner, Karl-Jürgen Bär

Genes (Basel) 2022 Nov; 13(11): 2132. Published online 2022 Nov 16. doi: 10.3390/genes13112132

PMCID:: PMC9691174

Abstract Article PDF–1.2M

Select item 930075619.

A massively parallel assay accurately discriminates between functionally normal and abnormal variants in a hotspot domain of KCNH2

Chai-Ann Ng, Rizwan Ullah, Jessica Farr, Adam P. Hill, Krystian A. Kozek, Loren R. Vanags, Devyn W. Mitchell, Brett M. Kroncke, Jamie I. Vandenberg

Am J Hum Genet. 2022 Jul 7; 109(7): 1208–1216. Published online 2022 Jun 9. doi: 10.1016/j.ajhg.2022.05.003

PMCID:: PMC9300756

Abstract Article PDF–2.1M

Select item 929687020.

Multiple mechanisms underlie reduced potassium conductance in the p.T1019PfsX38 variant of hERG

Majid K. Al Salmani, Rezvan Tavakoli, Wajid Zaman, Ahmed Al Harrasi

Physiol Rep. 2022 Jul; 10(14): e15341. Published online 2022 Jul 19. doi: 10.14814/phy2.15341

PMCID:: PMC9296870

Abstract Article PDF–2.2M

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