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. |
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| 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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| ISSN: | 1553-7404 |
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| DOI: | 10.1371/journal.pgen.1007917 |
