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Reduced kinase function in two ultra-rare TNNI3K variants in families with congenital junctional ectopic tachycardia.

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Title: Reduced kinase function in two ultra-rare TNNI3K variants in families with congenital junctional ectopic tachycardia.
Authors: Pham C; Department of Experimental Cardiology Heart Center, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Heart failure & Arrhythmias, Amsterdam, The Netherlands., Koopmann TT; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Physiology and Experimental Medicine, The Hospital for Sick Children & Research Institute, Toronto, Canada., Vinocur JM; Division of Pediatric Cardiology, Yale University School of Medicine, New Haven, Connecticut, USA., Blom NA; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands., Nogueira Silbiger V; Physiology and Experimental Medicine, The Hospital for Sick Children & Research Institute, Toronto, Canada.; Department of Clinical and Toxicological Analysis, Federal University of Rio Grande do Norte, Natal, Brazil., Mittal K; Department of Translational Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada., Bootsma M; Department of Cardiology, Leiden University Medical Center, Leiden, The Netherlands., Palm KCA; Department of Experimental Cardiology Heart Center, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Heart failure & Arrhythmias, Amsterdam, The Netherlands., Clur SB; Department of Paediatric Cardiology, Emma Children's Hospital, University Medical Center Amsterdam, Amsterdam, The Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart - ERN GUARD-Heart, Amsterdam, The Netherlands., Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Hamilton RM; Labatt Family Heart Centre, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Canada., Lodder EM; Department of Experimental Cardiology Heart Center, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Heart failure & Arrhythmias, Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.
Source: Clinical genetics [Clin Genet] 2024 Jul; Vol. 106 (1), pp. 37-46. Date of Electronic Publication: 2024 Feb 29.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Reduced kinase function in two ultra-rare TNNI3K variants in families with congenital junctional ectopic tachycardia.
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  Data: <searchLink fieldCode="AU" term="%22Pham+C%22">Pham C</searchLink>; Department of Experimental Cardiology Heart Center, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Heart failure & Arrhythmias, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Koopmann+TT%22">Koopmann TT</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Physiology and Experimental Medicine, The Hospital for Sick Children & Research Institute, Toronto, Canada.<br /><searchLink fieldCode="AU" term="%22Vinocur+JM%22">Vinocur JM</searchLink>; Division of Pediatric Cardiology, Yale University School of Medicine, New Haven, Connecticut, USA.<br /><searchLink fieldCode="AU" term="%22Blom+NA%22">Blom NA</searchLink>; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Nogueira+Silbiger+V%22">Nogueira Silbiger V</searchLink>; Physiology and Experimental Medicine, The Hospital for Sick Children & Research Institute, Toronto, Canada.; Department of Clinical and Toxicological Analysis, Federal University of Rio Grande do Norte, Natal, Brazil.<br /><searchLink fieldCode="AU" term="%22Mittal+K%22">Mittal K</searchLink>; Department of Translational Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Bootsma+M%22">Bootsma M</searchLink>; Department of Cardiology, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Palm+KCA%22">Palm KCA</searchLink>; Department of Experimental Cardiology Heart Center, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Heart failure & Arrhythmias, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Clur+SB%22">Clur SB</searchLink>; Department of Paediatric Cardiology, Emma Children's Hospital, University Medical Center Amsterdam, Amsterdam, The Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart - ERN GUARD-Heart, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Barge-Schaapveld+DQCM%22">Barge-Schaapveld DQCM</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Hamilton+RM%22">Hamilton RM</searchLink>; Labatt Family Heart Centre, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Canada.<br /><searchLink fieldCode="AU" term="%22Lodder+EM%22">Lodder EM</searchLink>; Department of Experimental Cardiology Heart Center, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Heart failure & Arrhythmias, Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2024 Jul; Vol. 106 (1), pp. 37-46. <i>Date of Electronic Publication: </i>2024 Feb 29.
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              Text: 2024 Jul
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