Human model of IRX5 mutations reveals key role for this transcription factor in ventricular conduction

Abstract Aims Several inherited arrhythmic diseases have been linked to single gene mutations in cardiac ion channels and interacting proteins. However, the mechanisms underlying most arrhythmias, are thought to involve altered regulation of the expression of multiple effectors. In this study, we ai...

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Veröffentlicht in:	Cardiovascular research 2021-07, Vol.117 (9), p.2092-2107
Hauptverfasser:	Al Sayed, Zeina R, Canac, Robin, Cimarosti, Bastien, Bonnard, Carine, Gourraud, Jean-Baptiste, Hamamy, Hanan, Kayserili, Hulya, Girardeau, Aurore, Jouni, Mariam, Jacob, Nicolas, Gaignerie, Anne, Chariau, Caroline, David, Laurent, Forest, Virginie, Marionneau, Céline, Charpentier, Flavien, Loussouarn, Gildas, Lamirault, Guillaume, Reversade, Bruno, Zibara, Kazem, Lemarchand, Patricia, Gaborit, Nathalie
Format:	Artikel
Sprache:	eng
Schlagworte:	Action Potentials Animals Arrhythmias, Cardiac - genetics Arrhythmias, Cardiac - metabolism Arrhythmias, Cardiac - physiopathology Bone Diseases - genetics Bone Diseases - metabolism Bone Diseases - physiopathology Cardiac & Cardiovascular Systems Cardiovascular System & Cardiology Cells, Cultured Cellular Biology Connexins - genetics Connexins - metabolism Gap Junction alpha-5 Protein GATA4 Transcription Factor - genetics GATA4 Transcription Factor - metabolism Heart Rate Heart Ventricles - metabolism Homeodomain Proteins - genetics Homeodomain Proteins - metabolism Humans Hypertelorism - genetics Hypertelorism - metabolism Hypertelorism - physiopathology Induced Pluripotent Stem Cells - metabolism Intellectual Disability - genetics Intellectual Disability - metabolism Intellectual Disability - physiopathology Life Sciences Life Sciences & Biomedicine Loss of Function Mutation Male Mice, Inbred C57BL Myocytes, Cardiac - metabolism Myopia - genetics Myopia - metabolism Myopia - physiopathology NAV1.5 Voltage-Gated Sodium Channel - genetics NAV1.5 Voltage-Gated Sodium Channel - metabolism Science & Technology Transcription Factors - genetics Transcription Factors - metabolism Transcriptome
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