Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism–epilepsy phenotype
Published 2014 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism–epilepsy phenotype
Authors
Keywords
-
Journal
HUMAN MOLECULAR GENETICS
Volume 23, Issue 18, Pages 4875-4886
Publisher
Oxford University Press (OUP)
Online
2014-05-03
DOI
10.1093/hmg/ddu201
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- KCNJ2mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmia
- (2013) Makarand Deo et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Characterization of a novel, dominant negative KCNJ2 mutation associated with Andersen-Tawil syndrome
- (2012) Scott B. Marrus et al. Channels
- Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations
- (2012) Angela Lanciotti et al. HUMAN MOLECULAR GENETICS
- Endocytic Regulation of Voltage-Dependent Potassium Channels in the Heart
- (2012) Kuniaki Ishii et al. JOURNAL OF PHARMACOLOGICAL SCIENCES
- Proteomic Analyses Reveal Divergent Ubiquitylation Site Patterns in Murine Tissues
- (2012) Sebastian A. Wagner et al. MOLECULAR & CELLULAR PROTEOMICS
- Genome-wide association study identifies a susceptibility locus for thyrotoxic periodic paralysis at 17q24.3
- (2012) Ching-Lung Cheung et al. NATURE GENETICS
- Dynamic reciprocity of sodium and potassium channel expression in a macromolecular complex controls cardiac excitability and arrhythmia
- (2012) M. L. Milstein et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- A novel gain-of-function KCNJ2 mutation associated with short-QT syndrome impairs inward rectification of Kir2.1 currents
- (2011) T. Hattori et al. CARDIOVASCULAR RESEARCH
- Autism with Seizures and Intellectual Disability: Possible Causative Role of Gain-of-function of the Inwardly-Rectifying K+ Channel Kir4.1
- (2011) Federico Sicca et al. NEUROBIOLOGY OF DISEASE
- The β1 subunit of the Na,K-ATPase pump interacts with megalencephalic leucoencephalopathy with subcortical cysts protein 1 (MLC1) in brain astrocytes: new insights into MLC pathogenesis
- (2010) Maria S. Brignone et al. HUMAN MOLECULAR GENETICS
- Calcium-sensing Receptor Decreases Cell Surface Expression of the Inwardly Rectifying K+Channel Kir4.1
- (2010) Seung-Kuy Cha et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Involvement of Caveolin in Low K+-induced Endocytic Degradation of Cell-surface Human Ether-a-go-go-related Gene (hERG) Channels
- (2010) Hamid Massaeli et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- A novel neuropsychiatric phenotype of KCNJ2 mutation in one Taiwanese family with Andersen–Tawil syndrome
- (2010) Hoi-Fong Chan et al. JOURNAL OF HUMAN GENETICS
- Implication of Kir4.1 Channel in Excess Potassium Clearance: An In Vivo Study on Anesthetized Glial-Conditional Kir4.1 Knock-Out Mice
- (2010) O. Chever et al. JOURNAL OF NEUROSCIENCE
- Interaction with caveolin-1 modulates vascular ATP-sensitive potassium (KATP) channel activity
- (2010) Lowri M. Davies et al. JOURNAL OF PHYSIOLOGY-LONDON
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- Inwardly Rectifying Potassium Channels: Their Structure, Function, and Physiological Roles
- (2010) Hiroshi Hibino et al. PHYSIOLOGICAL REVIEWS
- AutoDock4 and AutoDockTools4: Automated docking with selective receptor flexibility
- (2009) Garrett M. Morris et al. JOURNAL OF COMPUTATIONAL CHEMISTRY
- Upregulation of inward rectifier K+(Kir2) channels in dentate gyrus granule cells in temporal lobe epilepsy
- (2009) Christina C. Young et al. JOURNAL OF PHYSIOLOGY-LONDON
- MLC1 trafficking and membrane expression in astrocytes: Role of caveolin-1 and phosphorylation
- (2009) Angela Lanciotti et al. NEUROBIOLOGY OF DISEASE
- Reliable Activation of Immature Neurons in the Adult Hippocampus
- (2009) Lucas A. Mongiat et al. PLoS One
- ESCRT complexes and the biogenesis of multivesicular bodies
- (2008) James H Hurley CURRENT OPINION IN CELL BIOLOGY
- Functional complementation of high-efficiency resonance energy transfer: a new tool for the study of protein binding interactions in living cells
- (2007) Paola Molinari et al. BIOCHEMICAL JOURNAL
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started