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Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation.

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Title: Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation.
Authors: O'Connell AE; Division of Newborn Medicine, Boston Children's Hospital, Boston, Massachusetts, United States of America.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, United States of America., Gerashchenko MV; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, United States of America., O'Donohue MF; Laboratoire de Biologie Moléculaire Eucaryote, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, Toulouse, France., Rosen SM; Division of Newborn Medicine, Boston Children's Hospital, Boston, Massachusetts, United States of America.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, United States of America.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, United States of America., Huntzinger E; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Université de Strasbourg, Centre National de La Recherche Scientifique UMR 7104, INSERM U964, Strasbourg, France., Gleeson D; Wellcome Sanger Institute, Cambridge, United Kingdom., Galli A; Wellcome Sanger Institute, Cambridge, United Kingdom., Ryder E; Wellcome Sanger Institute, Cambridge, United Kingdom., Cao S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, United States of America.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, United States of America., Murphy Q; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, United States of America.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, United States of America., Kazerounian S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, United States of America.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, United States of America., Morton SU; Division of Newborn Medicine, Boston Children's Hospital, Boston, Massachusetts, United States of America.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, United States of America., Schmitz-Abe K; Division of Newborn Medicine, Boston Children's Hospital, Boston, Massachusetts, United States of America.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, United States of America.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America., Gladyshev VN; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, United States of America., Gleizes PE; Laboratoire de Biologie Moléculaire Eucaryote, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, Toulouse, France., Séraphin B; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Université de Strasbourg, Centre National de La Recherche Scientifique UMR 7104, INSERM U964, Strasbourg, France., Agrawal PB; Division of Newborn Medicine, Boston Children's Hospital, Boston, Massachusetts, United States of America.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, United States of America.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, United States of America.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, United States of America.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America.
Source: PLoS genetics [PLoS Genet] 2019 Feb 01; Vol. 15 (2), pp. e1007917. Date of Electronic Publication: 2019 Feb 01 (Print Publication: 2019).
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation.
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  Data: <searchLink fieldCode="AU" term="%22O'Connell+AE%22">O'Connell AE</searchLink>; Division of Newborn Medicine, Boston Children's Hospital, Boston, Massachusetts, United States of America.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, United States of America.<br /><searchLink fieldCode="AU" term="%22Gerashchenko+MV%22">Gerashchenko MV</searchLink>; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, United States of America.<br /><searchLink fieldCode="AU" term="%22O'Donohue+MF%22">O'Donohue MF</searchLink>; Laboratoire de Biologie Moléculaire Eucaryote, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Rosen+SM%22">Rosen SM</searchLink>; Division of Newborn Medicine, Boston Children's Hospital, Boston, Massachusetts, United States of America.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, United States of America.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, United States of America.<br /><searchLink fieldCode="AU" term="%22Huntzinger+E%22">Huntzinger E</searchLink>; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Université de Strasbourg, Centre National de La Recherche Scientifique UMR 7104, INSERM U964, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Gleeson+D%22">Gleeson D</searchLink>; Wellcome Sanger Institute, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Galli+A%22">Galli A</searchLink>; Wellcome Sanger Institute, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Ryder+E%22">Ryder E</searchLink>; Wellcome Sanger Institute, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Cao+S%22">Cao S</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, United States of America.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, United States of America.<br /><searchLink fieldCode="AU" term="%22Murphy+Q%22">Murphy Q</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, United States of America.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, United States of America.<br /><searchLink fieldCode="AU" term="%22Kazerounian+S%22">Kazerounian S</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, United States of America.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, United States of America.<br /><searchLink fieldCode="AU" term="%22Morton+SU%22">Morton SU</searchLink>; Division of Newborn Medicine, Boston Children's Hospital, Boston, Massachusetts, United States of America.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, United States of America.<br /><searchLink fieldCode="AU" term="%22Schmitz-Abe+K%22">Schmitz-Abe K</searchLink>; Division of Newborn Medicine, Boston Children's Hospital, Boston, Massachusetts, United States of America.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, United States of America.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America.<br /><searchLink fieldCode="AU" term="%22Gladyshev+VN%22">Gladyshev VN</searchLink>; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, United States of America.<br /><searchLink fieldCode="AU" term="%22Gleizes+PE%22">Gleizes PE</searchLink>; Laboratoire de Biologie Moléculaire Eucaryote, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Séraphin+B%22">Séraphin B</searchLink>; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Université de Strasbourg, Centre National de La Recherche Scientifique UMR 7104, INSERM U964, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Agrawal+PB%22">Agrawal PB</searchLink>; Division of Newborn Medicine, Boston Children's Hospital, Boston, Massachusetts, United States of America.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, United States of America.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, United States of America.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, United States of America.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America.
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  Data: <searchLink fieldCode="JN" term="%22101239074%22">PLoS genetics</searchLink> [PLoS Genet] 2019 Feb 01; Vol. 15 (2), pp. e1007917. <i>Date of Electronic Publication: </i>2019 Feb 01 (<i>Print Publication: </i>2019).
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