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NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.

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Title: NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.
Authors: Benyelles M; INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée La Ligue contre le Cancer, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., O'Donohue MF; Laboratoire de Biologie Moléculaire Eucaryote, Centre de Biologie Intégrative (CBI), Université de Toulouse, CNRS, UPS, Toulouse, France., Kermasson L; INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée La Ligue contre le Cancer, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., Lainey E; Hematology Laboratory, Robert DEBRE Hospital-APHP and INSERM UMR 1131-Hematology University Institute-Denis Diderot School of Medicine, Paris, France., Borie R; APHP, Hôpital Bichat, Service de Pneumologie A, DHU FIRE, Paris, France.; INSERM, Unité 1152, Paris, France.; Université Paris Diderot, Paris, France., Lagresle-Peyrou C; Laboratory of Human Lymphohematopoiesis, INSERM UMR 1163, Imagine Institute, Paris, France.; University of Paris Descartes-Sorbonne Paris Cité, Paris, France., Nunes H; Service de Pneumologie, Centre de Référence des Maladies Pulmonaires rares, Hôpital Avicenne, AP-HP, INSERM 1272, Université Paris 13, Bobigny, France., Cazelles C; Service d'hématologie adulte, Hôpital Necker- Enfants malades, Paris, France., Fourrage C; INSERM UMR 1163, Genomics platform, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Genomic Core Facility, Imagine Institute-Structure Fédérative de Recherche Necker, INSERM U1163, Paris, France., Ollivier E; INSERM UMR 1163, Genomics platform, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Genomic Core Facility, Imagine Institute-Structure Fédérative de Recherche Necker, INSERM U1163, Paris, France., Marcais A; Service d'hématologie Adultes, Hôpital Necker-Enfants Malades, Assistance publique hôpitaux de Paris, Paris, France, Laboratoire d'onco-hématologie, Institut Necker-Enfants Malades, INSERM U1151, Université Paris Descartes, Paris, France., Gamez AS; Service de Montpellier, CHU Montpellier, Montpellier, France., Morice-Picard F; Service de Dermatologie Pédiatrique, Centre de Reference des Maladies Rares de la Peau, CHU de Bordeaux, Bordeaux F-33076, France., Caillaud D; Service de Pneumologie-Allergologie, Hôpital Gabriel Montpied, Université Clermont Auvergne, Clermont-Ferrand, France., Pottier N; Univ. Lille, CHU Lille, Institut Pasteur de Lille, EA4483-IMPECS, Lille, France., Ménard C; APHP Service de Génétique, Hôpital Bichat, Paris, France Université Paris Diderot, Sorbonne Paris Cité, Paris, France., Ba I; APHP Service de Génétique, Hôpital Bichat, Paris, France Université Paris Diderot, Sorbonne Paris Cité, Paris, France., Fernandes A; Biological Resources Center, Structure Fédérative de Recherche Necker, INSERM US24, CNRS UMS3633, Assistance Publique des Hôpitaux de Paris and Institut Imagine, Paris, France., Crestani B; APHP, Hôpital Bichat, Service de Pneumologie A, DHU FIRE, Paris, France., de Villartay JP; INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée La Ligue contre le Cancer, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., Gleizes PE; Laboratoire de Biologie Moléculaire Eucaryote, Centre de Biologie Intégrative (CBI), Université de Toulouse, CNRS, UPS, Toulouse, France., Callebaut I; Sorbonne Université, Muséum National d'Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, 75005 Paris, France., Kannengiesser C; APHP Service de Génétique, Hôpital Bichat, Paris, France Université Paris Diderot, Sorbonne Paris Cité, Paris, France., Revy P; INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée La Ligue contre le Cancer, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.
Source: Human molecular genetics [Hum Mol Genet] 2020 Apr 15; Vol. 29 (6), pp. 907-922.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Benyelles+M%22">Benyelles M</searchLink>; INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée La Ligue contre le Cancer, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22O'Donohue+MF%22">O'Donohue MF</searchLink>; Laboratoire de Biologie Moléculaire Eucaryote, Centre de Biologie Intégrative (CBI), Université de Toulouse, CNRS, UPS, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Kermasson+L%22">Kermasson L</searchLink>; INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée La Ligue contre le Cancer, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Lainey+E%22">Lainey E</searchLink>; Hematology Laboratory, Robert DEBRE Hospital-APHP and INSERM UMR 1131-Hematology University Institute-Denis Diderot School of Medicine, Paris, France.<br /><searchLink fieldCode="AU" term="%22Borie+R%22">Borie R</searchLink>; APHP, Hôpital Bichat, Service de Pneumologie A, DHU FIRE, Paris, France.; INSERM, Unité 1152, Paris, France.; Université Paris Diderot, Paris, France.<br /><searchLink fieldCode="AU" term="%22Lagresle-Peyrou+C%22">Lagresle-Peyrou C</searchLink>; Laboratory of Human Lymphohematopoiesis, INSERM UMR 1163, Imagine Institute, Paris, France.; University of Paris Descartes-Sorbonne Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Nunes+H%22">Nunes H</searchLink>; Service de Pneumologie, Centre de Référence des Maladies Pulmonaires rares, Hôpital Avicenne, AP-HP, INSERM 1272, Université Paris 13, Bobigny, France.<br /><searchLink fieldCode="AU" term="%22Cazelles+C%22">Cazelles C</searchLink>; Service d'hématologie adulte, Hôpital Necker- Enfants malades, Paris, France.<br /><searchLink fieldCode="AU" term="%22Fourrage+C%22">Fourrage C</searchLink>; INSERM UMR 1163, Genomics platform, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Genomic Core Facility, Imagine Institute-Structure Fédérative de Recherche Necker, INSERM U1163, Paris, France.<br /><searchLink fieldCode="AU" term="%22Ollivier+E%22">Ollivier E</searchLink>; INSERM UMR 1163, Genomics platform, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Genomic Core Facility, Imagine Institute-Structure Fédérative de Recherche Necker, INSERM U1163, Paris, France.<br /><searchLink fieldCode="AU" term="%22Marcais+A%22">Marcais A</searchLink>; Service d'hématologie Adultes, Hôpital Necker-Enfants Malades, Assistance publique hôpitaux de Paris, Paris, France, Laboratoire d'onco-hématologie, Institut Necker-Enfants Malades, INSERM U1151, Université Paris Descartes, Paris, France.<br /><searchLink fieldCode="AU" term="%22Gamez+AS%22">Gamez AS</searchLink>; Service de Montpellier, CHU Montpellier, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Morice-Picard+F%22">Morice-Picard F</searchLink>; Service de Dermatologie Pédiatrique, Centre de Reference des Maladies Rares de la Peau, CHU de Bordeaux, Bordeaux F-33076, France.<br /><searchLink fieldCode="AU" term="%22Caillaud+D%22">Caillaud D</searchLink>; Service de Pneumologie-Allergologie, Hôpital Gabriel Montpied, Université Clermont Auvergne, Clermont-Ferrand, France.<br /><searchLink fieldCode="AU" term="%22Pottier+N%22">Pottier N</searchLink>; Univ. Lille, CHU Lille, Institut Pasteur de Lille, EA4483-IMPECS, Lille, France.<br /><searchLink fieldCode="AU" term="%22Ménard+C%22">Ménard C</searchLink>; APHP Service de Génétique, Hôpital Bichat, Paris, France Université Paris Diderot, Sorbonne Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Ba+I%22">Ba I</searchLink>; APHP Service de Génétique, Hôpital Bichat, Paris, France Université Paris Diderot, Sorbonne Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Fernandes+A%22">Fernandes A</searchLink>; Biological Resources Center, Structure Fédérative de Recherche Necker, INSERM US24, CNRS UMS3633, Assistance Publique des Hôpitaux de Paris and Institut Imagine, Paris, France.<br /><searchLink fieldCode="AU" term="%22Crestani+B%22">Crestani B</searchLink>; APHP, Hôpital Bichat, Service de Pneumologie A, DHU FIRE, Paris, France.<br /><searchLink fieldCode="AU" term="%22de+Villartay+JP%22">de Villartay JP</searchLink>; INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée La Ligue contre le Cancer, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Gleizes+PE%22">Gleizes PE</searchLink>; Laboratoire de Biologie Moléculaire Eucaryote, Centre de Biologie Intégrative (CBI), Université de Toulouse, CNRS, UPS, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Callebaut+I%22">Callebaut I</searchLink>; Sorbonne Université, Muséum National d'Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, 75005 Paris, France.<br /><searchLink fieldCode="AU" term="%22Kannengiesser+C%22">Kannengiesser C</searchLink>; APHP Service de Génétique, Hôpital Bichat, Paris, France Université Paris Diderot, Sorbonne Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Revy+P%22">Revy P</searchLink>; INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée La Ligue contre le Cancer, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.
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