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Page 1
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 …
Atrial fibrillation and sinus node dysfunction in human ankyrin-B syndrome: a computational analysis.
Wolf RM, Glynn P, Hashemi S, Zarei K, Mitchell CC, Anderson ME, Mohler PJ, Hund TJ. Wolf RM, et al. Am J Physiol Heart Circ Physiol. 2013 May;304(9):H1253-66. doi: 10.1152/ajpheart.00734.2012. Epub 2013 Feb 22. Am J Physiol Heart Circ Physiol. 2013. PMID: 23436330 Free PMC article.
While previous studies have identified a role for abnormal ion homeostasis in ventricular arrhythmias, the molecular mechanisms responsible for atrial arrhythmias and SAN dysfunction in human patients with ankyrin-B syndrome are unclear. Here, we develop a co …
While previous studies have identified a role for abnormal ion homeostasis in ventricular arrhythmias, the molecular mechanisms responsible …
Ankyrin-B syndrome: a case of sinus node dysfunction, atrial fibrillation and prolonged QT in a young adult.
Robaei D, Ford T, Ooi SY. Robaei D, et al. Heart Lung Circ. 2015 Feb;24(2):e31-4. doi: 10.1016/j.hlc.2014.09.013. Epub 2014 Sep 30. Heart Lung Circ. 2015. PMID: 25456501
Mutations of the ANK2 gene in the rare condition Ankyrin-B syndrome result in loss of function of the ankyrin-B protein which in turn leads to abnormal regulation of intracellular sodium and calcium and a predisposition to cardiac arrhythmia including torsade …
Mutations of the ANK2 gene in the rare condition Ankyrin-B syndrome result in loss of function of the ankyrin-B protein …
Ankyrin-B syndrome: enhanced cardiac function balanced by risk of cardiac death and premature senescence.
Mohler PJ, Healy JA, Xue H, Puca AA, Kline CF, Allingham RR, Kranias EG, Rockman HA, Bennett V. Mohler PJ, et al. PLoS One. 2007 Oct 17;2(10):e1051. doi: 10.1371/journal.pone.0001051. PLoS One. 2007. PMID: 17940615 Free PMC article.
Together these findings suggest a constellation of traits that we term "ankyrin-B syndrome", which may contribute to both aging-related disorders and enhanced cardiac function....
Together these findings suggest a constellation of traits that we term "ankyrin-B syndrome", which may contribute to bo …
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.
Genetics of long QT syndrome.
Tester DJ, Ackerman MJ. Tester DJ, et al. Methodist Debakey Cardiovasc J. 2014 Jan-Mar;10(1):29-33. doi: 10.14797/mdcj-10-1-29. Methodist Debakey Cardiovasc J. 2014. PMID: 24932360 Free PMC article. Review.
In addition, three atypical LQTS or multisystem syndromic disorders that have been associated with QT prolongation have been described, including ankyrin-B syndrome, Anderson-Tawil syndrome (ATS), and Timothy syndrome (TS). Genetic testing for LQTS is recomme …
In addition, three atypical LQTS or multisystem syndromic disorders that have been associated with QT prolongation have been described, incl …
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
23 results