Go to JCI Insight
  • About
  • Editors
  • Consulting Editors
  • For authors
  • Publication ethics
  • Publication alerts by email
  • Advertising
  • Job board
  • Contact
  • Clinical Research and Public Health
  • Current issue
  • Past issues
  • By specialty
    • COVID-19
    • Cardiology
    • Gastroenterology
    • Immunology
    • Metabolism
    • Nephrology
    • Neuroscience
    • Oncology
    • Pulmonology
    • Vascular biology
    • All ...
  • Videos
    • Conversations with Giants in Medicine
    • Video Abstracts
  • Reviews
    • View all reviews ...
    • Complement Biology and Therapeutics (May 2025)
    • Evolving insights into MASLD and MASH pathogenesis and treatment (Apr 2025)
    • Microbiome in Health and Disease (Feb 2025)
    • Substance Use Disorders (Oct 2024)
    • Clonal Hematopoiesis (Oct 2024)
    • Sex Differences in Medicine (Sep 2024)
    • Vascular Malformations (Apr 2024)
    • View all review series ...
  • Viewpoint
  • Collections
    • In-Press Preview
    • Clinical Research and Public Health
    • Research Letters
    • Letters to the Editor
    • Editorials
    • Commentaries
    • Editor's notes
    • Reviews
    • Viewpoints
    • 100th anniversary
    • Top read articles

  • Current issue
  • Past issues
  • Specialties
  • Reviews
  • Review series
  • Conversations with Giants in Medicine
  • Video Abstracts
  • In-Press Preview
  • Clinical Research and Public Health
  • Research Letters
  • Letters to the Editor
  • Editorials
  • Commentaries
  • Editor's notes
  • Reviews
  • Viewpoints
  • 100th anniversary
  • Top read articles
  • About
  • Editors
  • Consulting Editors
  • For authors
  • Publication ethics
  • Publication alerts by email
  • Advertising
  • Job board
  • Contact
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)
Martin Tristani-Firouzi, … , Louis J. Ptacek, Rabi Tawil
Martin Tristani-Firouzi, … , Louis J. Ptacek, Rabi Tawil
Published August 1, 2002
Citation Information: J Clin Invest. 2002;110(3):381-388. https://doi.org/10.1172/JCI15183.
View: Text | PDF
Article Genetics

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)

  • Text
  • PDF
Abstract

Research Article

Authors

Martin Tristani-Firouzi, Judy L. Jensen, Matthew R. Donaldson, Valeria Sansone, Giovanni Meola, Angelika Hahn, Said Bendahhou, Hubert Kwiecinski, Anna Fidzianska, Nikki Plaster, Ying-Hui Fu, Louis J. Ptacek, Rabi Tawil

×

Figure 1

Options: View larger image (or click on image) Download as PowerPoint
Functional consequences of AS-associated mutations in KCNJ2. (a) Whole-c...
Functional consequences of AS-associated mutations in KCNJ2. (a) Whole-cell currents in Xenopus oocytes induced by injection of WT KCNJ2, H2O, G144S and co-expressed WT and G144S KCNJ2. Currents were elicited by 200-ms pulses applied in 20-mV increments to potentials ranging from –150 to –10 mV from a holding potential of –70 mV. G144S mutant subunits failed to form functional channels when expressed alone. Coexpression of WT and G144S KCNJ2 induced small, inwardly rectifying currents. (b) Current voltage relationships for WT KCNJ2 (0.8 ng/oocyte) and coexpressed WT and mutant KCNJ2 (0.8 ng/oocyte of each cRNA). n = 10–18 oocytes/group. Inset, mean current between –70 and –30 mV shown on an expanded scale.

Copyright © 2025 American Society for Clinical Investigation
ISSN: 0021-9738 (print), 1558-8238 (online)

Sign up for email alerts