Associated Papers
Whole-exome sequencing in obstructive coronary artery disease identifies rare and novel variants in cardiac arrhythmia and pulmonary arterial hypertension-associated genes.
Ullah MF et al.
Biomolecules & Biomedicine, 2026
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Teunissen MWA et al.
Human Molecular Genetics, 2023
37195288 (PubMed )
Supplement: supplementary_figures_tables_ddad081.pdf
Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
Dellefave-Castillo LM et al.
Jama Cardiology, 2022
35947370 (PubMed )
Supplement: jamacardiol-e222455-s002.xlsx › Supplemental_Table3_rollup
Mechanisms and Alterations of Cardiac Ion Channels Leading to Disease: Role of Ankyrin-B in Cardiac Function.
Sucharski HC et al.
Biomolecules, 2020
Human ankyrins and their contribution to disease biology: An update.
Sharma N et al.
Journal of Biosciences, 2020
Ankyrin-B Q1283H Variant Linked to Arrhythmias Via Loss of Local Protein Phosphatase 2A Activity Causes Ryanodine Receptor Hyperphosphorylation.
Zhu W et al.
Circulation, 2018
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo H et al.
Molecular Autism, 2018
30564305 (PubMed )
Supplement: 13229_2018_247_MOESM5_ESM.xlsx › MIS30_
The evolving role of ankyrin-B in cardiovascular disease.
Koenig SN et al.
Heart Rhythm, 2017
Ankyrins and Spectrins in Cardiovascular Biology and Disease.
El Refaey MM et al.
Frontiers in Physiology, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Identification and characterization of two ankyrin-B isoforms in mammalian heart.
Wu HC et al.
Cardiovascular Research, 2015
Dysfunction in the βII spectrin-dependent cytoskeleton underlies human arrhythmia.
Smith SA et al.
Circulation, 2015
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