Literature DB >> 33729832

Long QT Syndrome KCNH2 Variant Induces hERG1a/1b Subunit Imbalance in Patient-Specific Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Li Feng1,2, Jianhua Zhang1, ChangHwan Lee3, Gina Kim1, Fang Liu4, Andrew J Petersen5, Evi Lim1, Corey L Anderson1, Kate M Orland1, Gail A Robertson4, Lee L Eckhardt1, Craig T January1, Timothy J Kamp1,6.   

Abstract

[Figure: see text].

Entities:  

Keywords:  electrophysiology; ion channel; long QT syndrome; phenotype; stem cell

Mesh：

Substances：

Year:  2021        PMID： 33729832      PMCID： PMC8058932          DOI： 10.1161/CIRCEP.120.009343

Source DB:  PubMed          Journal:  Circ Arrhythm Electrophysiol        ISSN： 1941-3084


  51 in total

1.  Heteromeric assembly of human ether-à-go-go-related gene (hERG) 1a/1b channels occurs cotranslationally via N-terminal interactions.

Authors:  Pallavi Phartiyal; Eugenia M C Jones; Gail A Robertson
Journal:  J Biol Chem       Date:  2007-02-01       Impact factor: 5.157

2.  Engineering Human Stem Cell Lines with Inducible Gene Knockout using CRISPR/Cas9.

Authors:  Yuejun Chen; Jingyuan Cao; Man Xiong; Andrew J Petersen; Yi Dong; Yunlong Tao; Cindy Tzu-Ling Huang; Zhongwei Du; Su-Chun Zhang
Journal:  Cell Stem Cell       Date:  2015-07-02       Impact factor: 24.633

3.  Rescue of aberrant gating by a genetically encoded PAS (Per-Arnt-Sim) domain in several long QT syndrome mutant human ether-á-go-go-related gene potassium channels.

Authors:  Elena C Gianulis; Matthew C Trudeau
Journal:  J Biol Chem       Date:  2011-05-02       Impact factor: 5.157

4.  HERG, a human inward rectifier in the voltage-gated potassium channel family.

Authors:  M C Trudeau; J W Warmke; B Ganetzky; G A Robertson
Journal:  Science       Date:  1995-07-07       Impact factor: 47.728

5.  Physiological properties of hERG 1a/1b heteromeric currents and a hERG 1b-specific mutation associated with Long-QT syndrome.

Authors:  Harinath Sale; Jinling Wang; Thomas J O'Hara; David J Tester; Pallavi Phartiyal; Jia-Qiang He; Yoram Rudy; Michael J Ackerman; Gail A Robertson
Journal:  Circ Res       Date:  2008-09-05       Impact factor: 17.367

6.  Re-trafficking of hERG reverses long QT syndrome 2 phenotype in human iPS-derived cardiomyocytes.

Authors:  Ashish Mehta; Glen Lester Sequiera; Chrishan J A Ramachandra; Yuliansa Sudibyo; Yingying Chung; Jingwei Sheng; Keng Yean Wong; Teng Hong Tan; Philip Wong; Reginald Liew; Winston Shim
Journal:  Cardiovasc Res       Date:  2014-03-12       Impact factor: 10.787

7.  Kv11.1 channel subunit composition includes MinK and varies developmentally in mouse cardiac muscle.

Authors:  Xun Wang; Rongzuo Xu; Grant Abernathey; Jordan Taylor; M B Alzghoul; Kevin Hannon; Gregory H Hockerman; Amber L Pond
Journal:  Dev Dyn       Date:  2008-09       Impact factor: 3.780

8.  Drug evaluation in cardiomyocytes derived from human induced pluripotent stem cells carrying a long QT syndrome type 2 mutation.

Authors:  Elena Matsa; Divya Rajamohan; Emily Dick; Lorraine Young; Ian Mellor; Andrew Staniforth; Chris Denning
Journal:  Eur Heart J       Date:  2011-03-02       Impact factor: 29.983

9.  Imaging individual mRNA molecules using multiple singly labeled probes.

Authors:  Arjun Raj; Patrick van den Bogaard; Scott A Rifkin; Alexander van Oudenaarden; Sanjay Tyagi
Journal:  Nat Methods       Date:  2008-09-21       Impact factor: 28.547

10.  Isogenic human pluripotent stem cell pairs reveal the role of a KCNH2 mutation in long-QT syndrome.

Authors:  Milena Bellin; Simona Casini; Richard P Davis; Cristina D'Aniello; Jessica Haas; Dorien Ward-van Oostwaard; Leon G J Tertoolen; Christian B Jung; David A Elliott; Andrea Welling; Karl-Ludwig Laugwitz; Alessandra Moretti; Christine L Mummery
Journal:  EMBO J       Date:  2013-11-08       Impact factor: 11.598
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  4 in total

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

Authors:  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
Journal:  Am J Hum Genet       Date:  2022-06-09       Impact factor: 11.043

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

Authors:  Connie Jiang; Ebony Richardson; Jessica Farr; Adam P Hill; Rizwan Ullah; Brett M Kroncke; Steven M Harrison; Kate L Thomson; Jodie Ingles; Jamie I Vandenberg; Chai-Ann Ng
Journal:  Am J Hum Genet       Date:  2022-06-09       Impact factor: 11.043

Review 3.  Challenges and innovation: Disease modeling using human-induced pluripotent stem cell-derived cardiomyocytes.

Authors:  Louise Reilly; Saba Munawar; Jianhua Zhang; Wendy C Crone; Lee L Eckhardt
Journal:  Front Cardiovasc Med       Date:  2022-08-12

Review 4.  Mutation-Specific Differences in Kv7.1 (KCNQ1) and Kv11.1 (KCNH2) Channel Dysfunction and Long QT Syndrome Phenotypes.

Authors:  Peter M Kekenes-Huskey; Don E Burgess; Bin Sun; Daniel C Bartos; Ezekiel R Rozmus; Corey L Anderson; Craig T January; Lee L Eckhardt; Brian P Delisle
Journal:  Int J Mol Sci       Date:  2022-07-02       Impact factor: 6.208
  4 in total

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