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Pathogenic SMAD6 variants in patients with idiopathic and complex congenital heart disease associated pulmonary arterial hypertension.

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Title: Pathogenic SMAD6 variants in patients with idiopathic and complex congenital heart disease associated pulmonary arterial hypertension.
Authors: Karl S; Center for Pulmonary Hypertension, Thoraxklinik Heidelberg gGmbH at Heidelberg University Hospital and Translational Lung Research Center Heidelberg (TLRC), German Center for Lung Research (DZL), Heidelberg, Germany.; Laboratory for Molecular Genetic Diagnostics, Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Grünig E; Center for Pulmonary Hypertension, Thoraxklinik Heidelberg gGmbH at Heidelberg University Hospital and Translational Lung Research Center Heidelberg (TLRC), German Center for Lung Research (DZL), Heidelberg, Germany., Shaukat M; Center for Pulmonary Hypertension, Thoraxklinik Heidelberg gGmbH at Heidelberg University Hospital and Translational Lung Research Center Heidelberg (TLRC), German Center for Lung Research (DZL), Heidelberg, Germany.; Laboratory for Molecular Genetic Diagnostics, Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Held M; Department of Pulmonary Medicine, KWM Missio Clinic, Würzburg, Germany., Apitz C; Department for Pediatric Cardiology, University Hospital Ulm, Ulm, Germany., von Scheidt F; Department of Congenital Heart Disease and Pediatric Cardiology, German Heart Center Munich, Munich, Germany., Geiger R; Pediatrics III (Cardiopulmonary Unit), Department of Child and Adolescent Health, Medical University Innsbruck, Innsbruck, Austria., Halank M; Devision of Pulmonology, Medical Department I, University Hospital Carl Gustav Carus of TU Dresden, Dresden, Germany., Olsson KM; Department of Respiratory Medicine and Infectious Diseases, Hannover Medical School, Hannover and Biomedical Research in Endstage and Obstructive Lung Disease Hanover (BREATH), German Center for Lung Research (DZL), Hannover, Germany., Hoeper MM; Department of Respiratory Medicine and Infectious Diseases, Hannover Medical School, Hannover and Biomedical Research in Endstage and Obstructive Lung Disease Hanover (BREATH), German Center for Lung Research (DZL), Hannover, Germany., Kamp JC; Department of Respiratory Medicine and Infectious Diseases, Hannover Medical School, Hannover and Biomedical Research in Endstage and Obstructive Lung Disease Hanover (BREATH), German Center for Lung Research (DZL), Hannover, Germany., Kovacs G; Division of Pulmonology, Department of Internal Medicine, Medical University of Graz and Ludwig Boltzmann Institute for Lung Vascular Research, Graz, Austria., Olschewski H; Division of Pulmonology, Department of Internal Medicine, Medical University of Graz and Ludwig Boltzmann Institute for Lung Vascular Research, Graz, Austria., Seyfarth HJ; Department of Pneumology, Medical Clinic II, University Hospital of Leipzig, Leipzig, Germany., Milger K; Department of Internal Medicine V, Ludwig-Maximilian University of Munich; Asklepios Clinic Gauting, Comprehensive Pneumology Centre Munich (CPC), German Center for Lung Research (DZL), Munich, Germany., Ewert R; Department of Internal Medicine B-Cardiology, Intensive Care, Pulmonary Medicine and Infectious Diseases, University of Greifswald, Greifswald, Germany., Klose H; Department of Pneumology, Department of Medicine II, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Egenlauf B; Center for Pulmonary Hypertension, Thoraxklinik Heidelberg gGmbH at Heidelberg University Hospital and Translational Lung Research Center Heidelberg (TLRC), German Center for Lung Research (DZL), Heidelberg, Germany., Xanthouli P; Center for Pulmonary Hypertension, Thoraxklinik Heidelberg gGmbH at Heidelberg University Hospital and Translational Lung Research Center Heidelberg (TLRC), German Center for Lung Research (DZL), Heidelberg, Germany.; Department of Internal Medicine V: Hematology, Oncology and Rheumatology, University Hospital Heidelberg, Heidelberg, Germany., Hinderhofer K; Laboratory for Molecular Genetic Diagnostics, Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Eichstaedt CA; Center for Pulmonary Hypertension, Thoraxklinik Heidelberg gGmbH at Heidelberg University Hospital and Translational Lung Research Center Heidelberg (TLRC), German Center for Lung Research (DZL), Heidelberg, Germany. christina.eichstaedt@med.uni-heidelberg.de.; Laboratory for Molecular Genetic Diagnostics, Institute of Human Genetics, Heidelberg University, Heidelberg, Germany. christina.eichstaedt@med.uni-heidelberg.de.
Source: NPJ genomic medicine [NPJ Genom Med] 2025 Mar 25; Vol. 10 (1), pp. 28. Date of Electronic Publication: 2025 Mar 25.
Publication Type: Journal Article
Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE
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  Data: Pathogenic SMAD6 variants in patients with idiopathic and complex congenital heart disease associated pulmonary arterial hypertension.
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  Data: <searchLink fieldCode="AU" term="%22Karl+S%22">Karl S</searchLink>; Center for Pulmonary Hypertension, Thoraxklinik Heidelberg gGmbH at Heidelberg University Hospital and Translational Lung Research Center Heidelberg (TLRC), German Center for Lung Research (DZL), Heidelberg, Germany.; Laboratory for Molecular Genetic Diagnostics, Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Grünig+E%22">Grünig E</searchLink>; Center for Pulmonary Hypertension, Thoraxklinik Heidelberg gGmbH at Heidelberg University Hospital and Translational Lung Research Center Heidelberg (TLRC), German Center for Lung Research (DZL), Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Shaukat+M%22">Shaukat M</searchLink>; Center for Pulmonary Hypertension, Thoraxklinik Heidelberg gGmbH at Heidelberg University Hospital and Translational Lung Research Center Heidelberg (TLRC), German Center for Lung Research (DZL), Heidelberg, Germany.; Laboratory for Molecular Genetic Diagnostics, Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Held+M%22">Held M</searchLink>; Department of Pulmonary Medicine, KWM Missio Clinic, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Apitz+C%22">Apitz C</searchLink>; Department for Pediatric Cardiology, University Hospital Ulm, Ulm, Germany.<br /><searchLink fieldCode="AU" term="%22von+Scheidt+F%22">von Scheidt F</searchLink>; Department of Congenital Heart Disease and Pediatric Cardiology, German Heart Center Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Geiger+R%22">Geiger R</searchLink>; Pediatrics III (Cardiopulmonary Unit), Department of Child and Adolescent Health, Medical University Innsbruck, Innsbruck, Austria.<br /><searchLink fieldCode="AU" term="%22Halank+M%22">Halank M</searchLink>; Devision of Pulmonology, Medical Department I, University Hospital Carl Gustav Carus of TU Dresden, Dresden, Germany.<br /><searchLink fieldCode="AU" term="%22Olsson+KM%22">Olsson KM</searchLink>; Department of Respiratory Medicine and Infectious Diseases, Hannover Medical School, Hannover and Biomedical Research in Endstage and Obstructive Lung Disease Hanover (BREATH), German Center for Lung Research (DZL), Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Hoeper+MM%22">Hoeper MM</searchLink>; Department of Respiratory Medicine and Infectious Diseases, Hannover Medical School, Hannover and Biomedical Research in Endstage and Obstructive Lung Disease Hanover (BREATH), German Center for Lung Research (DZL), Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Kamp+JC%22">Kamp JC</searchLink>; Department of Respiratory Medicine and Infectious Diseases, Hannover Medical School, Hannover and Biomedical Research in Endstage and Obstructive Lung Disease Hanover (BREATH), German Center for Lung Research (DZL), Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Kovacs+G%22">Kovacs G</searchLink>; Division of Pulmonology, Department of Internal Medicine, Medical University of Graz and Ludwig Boltzmann Institute for Lung Vascular Research, Graz, Austria.<br /><searchLink fieldCode="AU" term="%22Olschewski+H%22">Olschewski H</searchLink>; Division of Pulmonology, Department of Internal Medicine, Medical University of Graz and Ludwig Boltzmann Institute for Lung Vascular Research, Graz, Austria.<br /><searchLink fieldCode="AU" term="%22Seyfarth+HJ%22">Seyfarth HJ</searchLink>; Department of Pneumology, Medical Clinic II, University Hospital of Leipzig, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Milger+K%22">Milger K</searchLink>; Department of Internal Medicine V, Ludwig-Maximilian University of Munich; Asklepios Clinic Gauting, Comprehensive Pneumology Centre Munich (CPC), German Center for Lung Research (DZL), Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Ewert+R%22">Ewert R</searchLink>; Department of Internal Medicine B-Cardiology, Intensive Care, Pulmonary Medicine and Infectious Diseases, University of Greifswald, Greifswald, Germany.<br /><searchLink fieldCode="AU" term="%22Klose+H%22">Klose H</searchLink>; Department of Pneumology, Department of Medicine II, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Egenlauf+B%22">Egenlauf B</searchLink>; Center for Pulmonary Hypertension, Thoraxklinik Heidelberg gGmbH at Heidelberg University Hospital and Translational Lung Research Center Heidelberg (TLRC), German Center for Lung Research (DZL), Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Xanthouli+P%22">Xanthouli P</searchLink>; Center for Pulmonary Hypertension, Thoraxklinik Heidelberg gGmbH at Heidelberg University Hospital and Translational Lung Research Center Heidelberg (TLRC), German Center for Lung Research (DZL), Heidelberg, Germany.; Department of Internal Medicine V: Hematology, Oncology and Rheumatology, University Hospital Heidelberg, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Hinderhofer+K%22">Hinderhofer K</searchLink>; Laboratory for Molecular Genetic Diagnostics, Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Eichstaedt+CA%22">Eichstaedt CA</searchLink>; Center for Pulmonary Hypertension, Thoraxklinik Heidelberg gGmbH at Heidelberg University Hospital and Translational Lung Research Center Heidelberg (TLRC), German Center for Lung Research (DZL), Heidelberg, Germany. christina.eichstaedt@med.uni-heidelberg.de.; Laboratory for Molecular Genetic Diagnostics, Institute of Human Genetics, Heidelberg University, Heidelberg, Germany. christina.eichstaedt@med.uni-heidelberg.de.
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  Data: <searchLink fieldCode="JN" term="%22101685193%22">NPJ genomic medicine</searchLink> [NPJ Genom Med] 2025 Mar 25; Vol. 10 (1), pp. 28. <i>Date of Electronic Publication: </i>2025 Mar 25.
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