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Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study.

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Title: Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study.
Authors: Oussalah A; University of Lorraine, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, Nancy, France; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, Nutrition, and Metabolism, University Hospital of Nancy, Nancy, France; Reference Centre for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, Nancy F-54000, France. Electronic address: abderrahim.oussalah@univ-lorraine.fr., Jeannesson-Thivisol E; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, Nutrition, and Metabolism, University Hospital of Nancy, Nancy, France; Reference Centre for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, Nancy F-54000, France., Chéry C; University of Lorraine, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, Nancy, France; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, Nutrition, and Metabolism, University Hospital of Nancy, Nancy, France; Reference Centre for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, Nancy F-54000, France., Perrin P; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, Nutrition, and Metabolism, University Hospital of Nancy, Nancy, France; Reference Centre for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, Nancy F-54000, France., Rouyer P; University of Lorraine, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, Nancy, France., Josse T; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, Nutrition, and Metabolism, University Hospital of Nancy, Nancy, France; Reference Centre for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, Nancy F-54000, France., Cano A; Centre of Reference for Inborn Metabolic Diseases, University Hospital La Timone, Marseille, France., Barth M; Department of Genetics, University Hospital of Angers, Angers, France., Fouilhoux A; Metabolic Diseases Unit, Woman-Mother-Child Hospital, University Hospital of Lyon, Lyon, France., Mention K; Jeanne de Flandre Hospital, Lille, France., Labarthe F; Paediatric Unit, University Hospital of Tours, Tours, France., Arnoux JB; Reference Centre for Inherited Metabolic Diseases, Necker-Sick Children's Hospital, Imagine Institute, Paris Descartes University, Paris, France., Maillot F; Department of Internal Medicine, University Hospital of Tours, François Rabelais University, Tours, France., Lenaerts C; Department of Paediatrics, University Hospital of Amiens, Amiens, France., Dumesnil C; Paediatric Haematology and Oncology, University Hospital of Rouen, Rouen, France., Wagner K; Department of Paediatrics, Lenval Hospital, Nice, France., Terral D; Department of Paediatrics, University Hospital of Clermont-Ferrand, Clermont-Ferrand, France., Broué P; Reference Centre for Inborn Errors of Metabolism, University Children Hospital, Toulouse, France., De Parscau L; Department of Paediatrics, University Hospital Morvan, Brest, France., Gay C; Department of Paediatrics, University Hospital of Saint-Etienne, Saint-Etienne, France., Kuster A; Paediatric Department, University Hospital of Nantes, Nantes, France., Bédu A; Department of Neonatology, Mother and Child Hospital, Limoges, France., Besson G; Department of Neurology, University Hospital of Grenoble, Grenoble, France., Lamireau D; Department of Paediatrics, Pellegrin-Enfants Hospital, Bordeaux, France., Odent S; Department of Clinical Genetics, University Hospital of Rennes, Rennes, France., Masurel A; Department of Medical Genetics, Dijon Bourgogne University Hospital, Dijon, France., Rodriguez-Guéant RM; University of Lorraine, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, Nancy, France; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, Nutrition, and Metabolism, University Hospital of Nancy, Nancy, France; Reference Centre for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, Nancy F-54000, France., Feillet F; University of Lorraine, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, Nancy, France; Reference Centre for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, Nancy F-54000, France; Department of Paediatrics, University Hospital of Nancy, Nancy, France., Guéant JL; University of Lorraine, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, Nancy, France; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, Nutrition, and Metabolism, University Hospital of Nancy, Nancy, France; Reference Centre for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, Nancy F-54000, France. Electronic address: jean-louis.gueant@univ-lorraine.fr., Namour F; University of Lorraine, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, Nancy, France; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, Nutrition, and Metabolism, University Hospital of Nancy, Nancy, France; Reference Centre for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, Nancy F-54000, France.
Source: EBioMedicine [EBioMedicine] 2020 Jan; Vol. 51, pp. 102623. Date of Electronic Publication: 2020 Jan 07.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE
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  Data: Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study.
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  Data: <searchLink fieldCode="AU" term="%22Oussalah+A%22">Oussalah A</searchLink>; University of Lorraine, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, Nancy, France; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, Nutrition, and Metabolism, University Hospital of Nancy, Nancy, France; Reference Centre for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, Nancy F-54000, France. Electronic address: abderrahim.oussalah@univ-lorraine.fr.<br /><searchLink fieldCode="AU" term="%22Jeannesson-Thivisol+E%22">Jeannesson-Thivisol E</searchLink>; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, Nutrition, and Metabolism, University Hospital of Nancy, Nancy, France; Reference Centre for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, Nancy F-54000, France.<br /><searchLink fieldCode="AU" term="%22Chéry+C%22">Chéry C</searchLink>; University of Lorraine, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, Nancy, France; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, Nutrition, and Metabolism, University Hospital of Nancy, Nancy, France; Reference Centre for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, Nancy F-54000, France.<br /><searchLink fieldCode="AU" term="%22Perrin+P%22">Perrin P</searchLink>; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, Nutrition, and Metabolism, University Hospital of Nancy, Nancy, France; Reference Centre for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, Nancy F-54000, France.<br /><searchLink fieldCode="AU" term="%22Rouyer+P%22">Rouyer P</searchLink>; University of Lorraine, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, Nancy, France.<br /><searchLink fieldCode="AU" term="%22Josse+T%22">Josse T</searchLink>; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, Nutrition, and Metabolism, University Hospital of Nancy, Nancy, France; Reference Centre for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, Nancy F-54000, France.<br /><searchLink fieldCode="AU" term="%22Cano+A%22">Cano A</searchLink>; Centre of Reference for Inborn Metabolic Diseases, University Hospital La Timone, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Barth+M%22">Barth M</searchLink>; Department of Genetics, University Hospital of Angers, Angers, France.<br /><searchLink fieldCode="AU" term="%22Fouilhoux+A%22">Fouilhoux A</searchLink>; Metabolic Diseases Unit, Woman-Mother-Child Hospital, University Hospital of Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Mention+K%22">Mention K</searchLink>; Jeanne de Flandre Hospital, Lille, France.<br /><searchLink fieldCode="AU" term="%22Labarthe+F%22">Labarthe F</searchLink>; Paediatric Unit, University Hospital of Tours, Tours, France.<br /><searchLink fieldCode="AU" term="%22Arnoux+JB%22">Arnoux JB</searchLink>; Reference Centre for Inherited Metabolic Diseases, Necker-Sick Children's Hospital, Imagine Institute, Paris Descartes University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Maillot+F%22">Maillot F</searchLink>; Department of Internal Medicine, University Hospital of Tours, François Rabelais University, Tours, France.<br /><searchLink fieldCode="AU" term="%22Lenaerts+C%22">Lenaerts C</searchLink>; Department of Paediatrics, University Hospital of Amiens, Amiens, France.<br /><searchLink fieldCode="AU" term="%22Dumesnil+C%22">Dumesnil C</searchLink>; Paediatric Haematology and Oncology, University Hospital of Rouen, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Wagner+K%22">Wagner K</searchLink>; Department of Paediatrics, Lenval Hospital, Nice, France.<br /><searchLink fieldCode="AU" term="%22Terral+D%22">Terral D</searchLink>; Department of Paediatrics, University Hospital of Clermont-Ferrand, Clermont-Ferrand, France.<br /><searchLink fieldCode="AU" term="%22Broué+P%22">Broué P</searchLink>; Reference Centre for Inborn Errors of Metabolism, University Children Hospital, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22De+Parscau+L%22">De Parscau L</searchLink>; Department of Paediatrics, University Hospital Morvan, Brest, France.<br /><searchLink fieldCode="AU" term="%22Gay+C%22">Gay C</searchLink>; Department of Paediatrics, University Hospital of Saint-Etienne, Saint-Etienne, France.<br /><searchLink fieldCode="AU" term="%22Kuster+A%22">Kuster A</searchLink>; Paediatric Department, University Hospital of Nantes, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Bédu+A%22">Bédu A</searchLink>; Department of Neonatology, Mother and Child Hospital, Limoges, France.<br /><searchLink fieldCode="AU" term="%22Besson+G%22">Besson G</searchLink>; Department of Neurology, University Hospital of Grenoble, Grenoble, France.<br /><searchLink fieldCode="AU" term="%22Lamireau+D%22">Lamireau D</searchLink>; Department of Paediatrics, Pellegrin-Enfants Hospital, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Odent+S%22">Odent S</searchLink>; Department of Clinical Genetics, University Hospital of Rennes, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Masurel+A%22">Masurel A</searchLink>; Department of Medical Genetics, Dijon Bourgogne University Hospital, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Rodriguez-Guéant+RM%22">Rodriguez-Guéant RM</searchLink>; University of Lorraine, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, Nancy, France; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, Nutrition, and Metabolism, University Hospital of Nancy, Nancy, France; Reference Centre for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, Nancy F-54000, France.<br /><searchLink fieldCode="AU" term="%22Feillet+F%22">Feillet F</searchLink>; University of Lorraine, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, Nancy, France; Reference Centre for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, Nancy F-54000, France; Department of Paediatrics, University Hospital of Nancy, Nancy, France.<br /><searchLink fieldCode="AU" term="%22Guéant+JL%22">Guéant JL</searchLink>; University of Lorraine, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, Nancy, France; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, Nutrition, and Metabolism, University Hospital of Nancy, Nancy, France; Reference Centre for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, Nancy F-54000, France. Electronic address: jean-louis.gueant@univ-lorraine.fr.<br /><searchLink fieldCode="AU" term="%22Namour+F%22">Namour F</searchLink>; University of Lorraine, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, Nancy, France; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, Nutrition, and Metabolism, University Hospital of Nancy, Nancy, France; Reference Centre for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, Nancy F-54000, France.
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