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CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection.

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Title: CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection.
Authors: Nauth T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Philipp M; Department of Experimental and Clinical Pharmacology and Pharmacogenomics, Section of Pharmacogenomics, Eberhard-Karls-University Tübingen, Tübingen, Germany., Renner S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Burkhalter MD; Department of Experimental and Clinical Pharmacology and Pharmacogenomics, Section of Pharmacogenomics, Eberhard-Karls-University Tübingen, Tübingen, Germany., Schüler H; Department of Cardiology, University Heart & Vascular Center Hamburg, Hamburg, Germany., Saygi C; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Händler K; Institute of Human Genetics, Universitätsklinikum Schleswig-Holstein (UKSH), University of Lübeck and University of Kiel, Lübeck, Germany., Siebels B; Section Mass Spectrometry and Proteomics, Center for Diagnostics., Busch A; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Mair T; Section Mass Spectrometry and Proteomics, Center for Diagnostics., Rickassel V; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Deden S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Hoffer K; University Cancer Center Hamburg (UCCH) Kinomics Core Facility, Hubertus Wald Tumorzentrum-UCCH; and.; Department of Radiotherapy and Radiation Oncology, Hubertus Wald Tumorzentrum-UCCH; University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Olfe J; Clinic for Children's Heart Medicine and Adult Congenital Heart Disease and., Mir TS; Clinic for Children's Heart Medicine and Adult Congenital Heart Disease and., von Kodolitsch Y; Department of Cardiology, University Heart & Vascular Center Hamburg, Hamburg, Germany., Girdauskas E; Department of Cardiovascular Surgery, University Heart & Vascular Center Hamburg, Hamburg, Germany., Rybczynski M; Department of Cardiology, University Heart & Vascular Center Hamburg, Hamburg, Germany., Kriegs M; University Cancer Center Hamburg (UCCH) Kinomics Core Facility, Hubertus Wald Tumorzentrum-UCCH; and.; Department of Radiotherapy and Radiation Oncology, Hubertus Wald Tumorzentrum-UCCH; University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Voß H; Section Mass Spectrometry and Proteomics, Center for Diagnostics., Sauvigny T; Department of Neurosurgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Spielmann M; Institute of Human Genetics, Universitätsklinikum Schleswig-Holstein (UKSH), University of Lübeck and University of Kiel, Lübeck, Germany.; Human Molecular Genetics Group, Max Planck Institute for Molecular Genetics, Berlin, Germany.; DZHK e.V. (German Center for Cardiovascular Research), Partner Site Hamburg/Kiel/Lübeck, Germany., Alawi M; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Krasemann S; Institute of Neuropathology and.; Core Facility for Experimental Histo-Pathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Demal TJ; Department of Cardiovascular Surgery, University Heart & Vascular Center Hamburg, Hamburg, Germany., Rosenberger G; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Source: The Journal of clinical investigation [J Clin Invest] 2025 Oct 07; Vol. 135 (23). Date of Electronic Publication: 2025 Oct 07 (Print Publication: 2025).
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: eCollection Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection.
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  Data: <searchLink fieldCode="AU" term="%22Nauth+T%22">Nauth T</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Philipp+M%22">Philipp M</searchLink>; Department of Experimental and Clinical Pharmacology and Pharmacogenomics, Section of Pharmacogenomics, Eberhard-Karls-University Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Renner+S%22">Renner S</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Burkhalter+MD%22">Burkhalter MD</searchLink>; Department of Experimental and Clinical Pharmacology and Pharmacogenomics, Section of Pharmacogenomics, Eberhard-Karls-University Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Schüler+H%22">Schüler H</searchLink>; Department of Cardiology, University Heart & Vascular Center Hamburg, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Saygi+C%22">Saygi C</searchLink>; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Händler+K%22">Händler K</searchLink>; Institute of Human Genetics, Universitätsklinikum Schleswig-Holstein (UKSH), University of Lübeck and University of Kiel, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Siebels+B%22">Siebels B</searchLink>; Section Mass Spectrometry and Proteomics, Center for Diagnostics.<br /><searchLink fieldCode="AU" term="%22Busch+A%22">Busch A</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Mair+T%22">Mair T</searchLink>; Section Mass Spectrometry and Proteomics, Center for Diagnostics.<br /><searchLink fieldCode="AU" term="%22Rickassel+V%22">Rickassel V</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Deden+S%22">Deden S</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Hoffer+K%22">Hoffer K</searchLink>; University Cancer Center Hamburg (UCCH) Kinomics Core Facility, Hubertus Wald Tumorzentrum-UCCH; and.; Department of Radiotherapy and Radiation Oncology, Hubertus Wald Tumorzentrum-UCCH; University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Olfe+J%22">Olfe J</searchLink>; Clinic for Children's Heart Medicine and Adult Congenital Heart Disease and.<br /><searchLink fieldCode="AU" term="%22Mir+TS%22">Mir TS</searchLink>; Clinic for Children's Heart Medicine and Adult Congenital Heart Disease and.<br /><searchLink fieldCode="AU" term="%22von+Kodolitsch+Y%22">von Kodolitsch Y</searchLink>; Department of Cardiology, University Heart & Vascular Center Hamburg, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Girdauskas+E%22">Girdauskas E</searchLink>; Department of Cardiovascular Surgery, University Heart & Vascular Center Hamburg, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Rybczynski+M%22">Rybczynski M</searchLink>; Department of Cardiology, University Heart & Vascular Center Hamburg, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Kriegs+M%22">Kriegs M</searchLink>; University Cancer Center Hamburg (UCCH) Kinomics Core Facility, Hubertus Wald Tumorzentrum-UCCH; and.; Department of Radiotherapy and Radiation Oncology, Hubertus Wald Tumorzentrum-UCCH; University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Voß+H%22">Voß H</searchLink>; Section Mass Spectrometry and Proteomics, Center for Diagnostics.<br /><searchLink fieldCode="AU" term="%22Sauvigny+T%22">Sauvigny T</searchLink>; Department of Neurosurgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Spielmann+M%22">Spielmann M</searchLink>; Institute of Human Genetics, Universitätsklinikum Schleswig-Holstein (UKSH), University of Lübeck and University of Kiel, Lübeck, Germany.; Human Molecular Genetics Group, Max Planck Institute for Molecular Genetics, Berlin, Germany.; DZHK e.V. (German Center for Cardiovascular Research), Partner Site Hamburg/Kiel/Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Alawi+M%22">Alawi M</searchLink>; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Krasemann+S%22">Krasemann S</searchLink>; Institute of Neuropathology and.; Core Facility for Experimental Histo-Pathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Kubisch+C%22">Kubisch C</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Demal+TJ%22">Demal TJ</searchLink>; Department of Cardiovascular Surgery, University Heart & Vascular Center Hamburg, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Rosenberger+G%22">Rosenberger G</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
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  Data: <searchLink fieldCode="JN" term="%227802877%22">The Journal of clinical investigation</searchLink> [J Clin Invest] 2025 Oct 07; Vol. 135 (23). <i>Date of Electronic Publication: </i>2025 Oct 07 (<i>Print Publication: </i>2025).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22American+Society+for+Clinical+Investigation%22">American Society for Clinical Investigation </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>7802877 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>1558-8238 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200219738%22">00219738 </searchLink><i>NLM ISO Abbreviation: </i>J Clin Invest <i>Subsets: </i>MEDLINE
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