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Select item 108403341.

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

Article PDF–1.8M

Select item 107690132.

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

Article PDF–2.5M

Select item 107173803.

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

Article PDF–408K

Select item 105621464.

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

Article PDF–2.3M

Select item 103109785.

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

Article PDF–2.4M

Select item 101058896.

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

Article PDF–861K

Select item 100262567.

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

Article PDF–1.7M

Select item 99711648.

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

Article PDF–8.0M

Select item 99343039.

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

Article PDF–12M

Select item 993325710.

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

Article PDF–9.6M

Select item 986798411.

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

Article PDF–3.6M

Select item 983417912.

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

Article PDF–1.1M

Select item 974837213.

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

Article PDF–2.3M

Select item 930075614.

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

Article PDF–2.1M

Select item 929687015.

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

Article PDF–2.2M

Select item 902460516.

KCNH2 p.Gly262AlafsTer98: A New Threatening Variant Associated with Long QT Syndrome in a Spanish Cohort

Rebeca Lorca, Alejandro Junco-Vicente, Alicia Pérez-Pérez, Isaac Pascual, Yvan Rafael Persia-Paulino, Francisco González-Urbistondo, Elías Cuesta-Llavona, Bárbara C. Fernández-Barrio, César Morís, José Manuel Rubín, Eliecer Coto, Juan Gómez, José Julián Rodríguez Reguero

Life (Basel) 2022 Apr; 12(4): 556. Published online 2022 Apr 8. doi: 10.3390/life12040556

PMCID:: PMC9024605

Article PDF–1.4M

Select item 890801017.

Case Report: Biventricular Noncompaction Cardiomyopathy With Pulmonary Stenosis and Bradycardia in a Fetus With KCNH2 Mutation

Hairui Sun, Xiaowei Liu, Xiaoyan Hao, Xiaoxue Zhou, Jingyi Wang, Jiancheng Han, Mengmeng Liang, Hongjia Zhang, Yihua He

Front Genet. 2022; 13: 821226. Published online 2022 Feb 24. doi: 10.3389/fgene.2022.821226

PMCID:: PMC8908010

Article PDF–986K

Select item 886574318.

Identification through action potential clamp of proarrhythmic consequences of the short QT syndrome T618I hERG ‘hotspot’ mutation

Chunyun Du, Henggui Zhang, Stephen C. Harmer, Jules C. Hancox

Biochem Biophys Res Commun. 2022 Mar 12; 596: 49–55. doi: 10.1016/j.bbrc.2022.01.057

PMCID:: PMC8865743

Article PDF–2.5M

Select item 869326519.

Investigation of PAS and CNBH domain interactions in hERG channels and effects of long-QT syndrome-causing mutations with surface plasmon resonance

Stephanie M. Soohoo, Purushottam B. Tiwari, Yuichiro J. Suzuki, Tinatin I. Brelidze

J Biol Chem. 2022 Jan; 298(1): 101433. Published online 2021 Nov 19. doi: 10.1016/j.jbc.2021.101433

PMCID:: PMC8693265

Article PDF–6.1M

Select item 861222620.

Conformation-sensitive antibody reveals an altered cytosolic PAS/CNBh assembly during hERG channel gating

Carol A. Harley, Ganeko Bernardo-Seisdedos, Whitney A. Stevens-Sostre, David K. Jones, Maria M. Azevedo, Paula Sampaio, Marta Lorga-Gomes, Matthew C. Trudeau, Oscar Millet, Gail A. Robertson, João H. Morais-Cabral

Proc Natl Acad Sci U S A. 2021 Nov 2; 118(44): e2108796118. Published online 2021 Oct 29. doi: 10.1073/pnas.2108796118