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Title
Cantú Syndrome Resulting from Activating Mutation in theKCNJ8Gene
Authors
Keywords
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Journal
HUMAN MUTATION
Volume 35, Issue 7, Pages 809-813
Publisher
Wiley
Online
2014-04-02
DOI
10.1002/humu.22555
References
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Related references
Note: Only part of the references are listed.- Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations inABCC9
- (2013) Johanna Christina Czeschik et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- The KCNJ8-S422L variant previously associated with J-wave syndromes is found at an increased frequency in Ashkenazi Jews
- (2013) Krishna R Veeramah et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities – Support for the role of K(ATP) channels in this condition
- (2013) Catherine A. Brownstein et al. European Journal of Medical Genetics
- Expression and function of K(ATP) channels in normal and osteoarthritic human chondrocytes: Possible role in glucose sensing
- (2013) Ana T. Rufino et al. JOURNAL OF CELLULAR BIOCHEMISTRY
- Hypotension Due to Kir6.1 Gain‐of‐Function in Vascular Smooth Muscle
- (2013) Anlong Li et al. Journal of the American Heart Association
- Cantú Syndrome Is Caused by Mutations in ABCC9
- (2012) Bregje W.M. van Bon et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Dominant missense mutations in ABCC9 cause Cantú syndrome
- (2012) Magdalena Harakalova et al. NATURE GENETICS
- Unique Properties of the ATP-Sensitive K + Channel in the Mouse Ventricular Cardiac Conduction System
- (2011) Li Bao et al. Circulation-Arrhythmia and Electrophysiology
- Molecular genetic and functional association of Brugada and early repolarization syndromes with S422L missense mutation in KCNJ8
- (2011) Hector Barajas-Martínez et al. HEART RHYTHM
- Cardiomyocyte sulfonylurea receptor 2-KATP channel mediates cardioprotection and ST segment elevation
- (2010) Douglas A. Stoller et al. AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
- The mitochondrial bioenergetic phenotype for protection from cardiac ischemia in SUR2 mutant mice
- (2010) Nitin T. Aggarwal et al. AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
- Gain-of-function mutation S422L in the KCNJ8-encoded cardiac KATP channel Kir6.1 as a pathogenic substrate for J-wave syndromes
- (2010) Argelia Medeiros-Domingo et al. HEART RHYTHM
- Muscle KATP Channels: Recent Insights to Energy Sensing and Myoprotection
- (2010) Thomas P. Flagg et al. PHYSIOLOGICAL REVIEWS
- Ventricular Fibrillation with Prominent Early Repolarization Associated with a Rare Variant of KCNJ8/KATPChannel
- (2008) MICHEL HAÏSSAGUERRE et al. JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY
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