دورية أكاديمية
Whole-Exome Sequencing Implicates Neuronal Calcium Channel with Familial Atrial Fibrillation.
| العنوان: | Whole-Exome Sequencing Implicates Neuronal Calcium Channel with Familial Atrial Fibrillation. |
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| المؤلفون: | Vad OB; Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Laboratory for Molecular Cardiology, Department of Cardiology, Centre for Cardiac, Vascular-, Pulmonary and Infectious Diseases, Righospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Yan Y; Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Denti F; Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Ahlberg G; Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Laboratory for Molecular Cardiology, Department of Cardiology, Centre for Cardiac, Vascular-, Pulmonary and Infectious Diseases, Righospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Refsgaard L; Laboratory for Molecular Cardiology, Department of Cardiology, Centre for Cardiac, Vascular-, Pulmonary and Infectious Diseases, Righospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Bomholtz SH; Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Santos JL; Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Rasmussen S; Disease Systems Biology Program, University of Copenhagen, Copenhagen, Denmark., Haunsø S; Laboratory for Molecular Cardiology, Department of Cardiology, Centre for Cardiac, Vascular-, Pulmonary and Infectious Diseases, Righospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Svendsen JH; Laboratory for Molecular Cardiology, Department of Cardiology, Centre for Cardiac, Vascular-, Pulmonary and Infectious Diseases, Righospitalet, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Christophersen IE; The Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.; Department of Medical Research, Bærum Hospital, Vestre Viken Hospital Trust, Rud, Norway., Schmitt N; Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Olesen MS; Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Laboratory for Molecular Cardiology, Department of Cardiology, Centre for Cardiac, Vascular-, Pulmonary and Infectious Diseases, Righospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Bentzen BH; Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. |
| المصدر: | Frontiers in genetics [Front Genet] 2022 Jan 28; Vol. 13, pp. 806429. Date of Electronic Publication: 2022 Jan 28 (Print Publication: 2022). |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Original Publication: Lausanne : Frontiers Research Foundation. |
| مستخلص: | Background: Atrial Fibrillation (AF) is the most prevalent sustained cardiac arrhythmia, responsible for considerable morbidity and mortality. The heterogenic and complex pathogenesis of AF remains poorly understood, which contributes to the current limitation in effective treatments. We aimed to identify rare genetic variants associated with AF in patients with familial AF. Methods and results: We performed whole exome sequencing in a large family with familial AF and identified a rare variant in the gene CACNA1A c.5053G > A which co-segregated with AF. The gene encodes for the protein variants Ca Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2022 Vad, Yan, Denti, Ahlberg, Refsgaard, Bomholtz, Santos, Rasmussen, Haunsø, Svendsen, Christophersen, Schmitt, Olesen and Bentzen.) |
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| فهرسة مساهمة: | Keywords: arrhythmias (cardiac); atrial fibrillation; cardiology; genetics; ion channels; mechanisms of arrhythmia |
| تواريخ الأحداث: | Date Created: 20220214 Latest Revision: 20220216 |
| رمز التحديث: | 20231215 |
| مُعرف محوري في PubMed: | PMC8832975 |
| DOI: | 10.3389/fgene.2022.806429 |
| PMID: | 35154276 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1664-8021 |
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| DOI: | 10.3389/fgene.2022.806429 |