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Ankyrin-2 genetic variants: A case of Ankyrin-B syndrome.
Song J, Sasmita BR, Deng G. Song J, et al. Ann Noninvasive Electrocardiol. 2022 Jul;27(4):e12933. doi: 10.1111/anec.12933. Epub 2022 Feb 28. Ann Noninvasive Electrocardiol. 2022. PMID: 35224819 Free PMC article.
The evolving role of ankyrin-B in cardiovascular disease.
Koenig SN, Mohler PJ. Koenig SN, et al. Heart Rhythm. 2017 Dec;14(12):1884-1889. doi: 10.1016/j.hrthm.2017.07.032. Epub 2017 Jul 29. Heart Rhythm. 2017. PMID: 28765088 Free PMC article. Review.
Furthermore, human ANK2 variants that result in ankyrin-B loss of function are associated with "ankyrin-B syndrome," a complex cardiac phenotype that may include bradycardia and heart rate variability, conduction block, atrial fibrillation, QT interval prolon …
Furthermore, human ANK2 variants that result in ankyrin-B loss of function are associated with "ankyrin-B syndrome," a …
Mechanisms and Alterations of Cardiac Ion Channels Leading to Disease: Role of Ankyrin-B in Cardiac Function.
Sucharski HC, Dudley EK, Keith CBR, El Refaey M, Koenig SN, Mohler PJ. Sucharski HC, et al. Biomolecules. 2020 Jan 31;10(2):211. doi: 10.3390/biom10020211. Biomolecules. 2020. PMID: 32023981 Free PMC article. Review.
Further, ankyrin-B dysfunction has been associated with cardiac phenotypes in humans (now referred to as "ankyrin-B syndrome") including sinus node dysfunction, heart rate variability, atrial fibrillation, conduction block, arrhythmogenic cardiomyopathy, stru …
Further, ankyrin-B dysfunction has been associated with cardiac phenotypes in humans (now referred to as "ankyrin-B syndrom …
Phenotypic Variability of ANK2 Mutations in Patients With Inherited Primary Arrhythmia Syndromes.
Ichikawa M, Aiba T, Ohno S, Shigemizu D, Ozawa J, Sonoda K, Fukuyama M, Itoh H, Miyamoto Y, Tsunoda T, Makiyama T, Tanaka T, Shimizu W, Horie M. Ichikawa M, et al. Circ J. 2016 Nov 25;80(12):2435-2442. doi: 10.1253/circj.CJ-16-0486. Epub 2016 Oct 25. Circ J. 2016. PMID: 27784853 Free article. Clinical Trial.
CONCLUSIONS: VariousANK2mutations are associated with a wide range of phenotypes, including aLQTS, especially with ventricular fibrillation, representing "ankyrin-B" syndrome. (Circ J 2016; 80: 2435-2442)....
CONCLUSIONS: VariousANK2mutations are associated with a wide range of phenotypes, including aLQTS, especially with ventricular fibrillation, …
Novel Variant in the ANK2 Membrane-Binding Domain Is Associated With Ankyrin-B Syndrome and Structural Heart Disease in a First Nations Population With a High Rate of Long QT Syndrome.
Swayne LA, Murphy NP, Asuri S, Chen L, Xu X, McIntosh S, Wang C, Lancione PJ, Roberts JD, Kerr C, Sanatani S, Sherwin E, Kline CF, Zhang M, Mohler PJ, Arbour LT. Swayne LA, et al. Circ Cardiovasc Genet. 2017 Jan;10(1):e001537. doi: 10.1161/CIRCGENETICS.116.001537. Circ Cardiovasc Genet. 2017. PMID: 28196901 Free PMC article.
A Novel Mechanism for Human Cardiac Ankyrin-B Syndrome due to Reciprocal Chromosomal Translocation.
Huq AJ, Pertile MD, Davis AM, Landon H, James PA, Kline CF, Vohra J, Mohler PJ, Delatycki MB. Huq AJ, et al. Heart Lung Circ. 2017 Jun;26(6):612-618. doi: 10.1016/j.hlc.2016.09.013. Epub 2016 Nov 16. Heart Lung Circ. 2017. PMID: 27916589 Free PMC article. Clinical Trial.
Loss-of-function variants in the ANK2 gene can cause a variety of cardiac rhythm abnormalities including sinus node dysfunction, atrial fibrillation and ventricular arrhythmias (called the "ankyrin-B syndrome"). ANK2 encodes ankyrin-B, a molecule critical for …
Loss-of-function variants in the ANK2 gene can cause a variety of cardiac rhythm abnormalities including sinus node dysfunction, atrial fibr …