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An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants.

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Title: An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants.
Authors: Fellmann F; The ColLaboratory, University of Lausanne, Lausanne, Switzerland.; Service of Medical Genetics, University Hospital Lausanne (CHUV), Lausanne, Switzerland., Saunders C; University of Missouri Kansas City, School of Medicine, Kansas City, Missouri, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA., O'Donohue MF; MCD, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, Toulouse, France., Reid DW; Department of Biochemistry, Duke University Medical Center, Durham, North Carolina, USA.; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA., McFadden KA; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA., Montel-Lehry N; MCD, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, Toulouse, France., Yu C; BGI-Shenzhen, Shenzhen, China., Fang M; BGI-Shenzhen, Shenzhen, China., Zhang J; BGI-Shenzhen, Shenzhen, China., Royer-Bertrand B; Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland., Farinelli P; Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland., Karboul N; UMR 1149 INSERM, Faculté de Médecine Site Bichat, Paris, France., Willer JR; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA., Fievet L; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA., Bhuiyan ZA; Service of Medical Genetics, University Hospital Lausanne (CHUV), Lausanne, Switzerland., Kleinhenz AL; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA., Jadeau J; MCD, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, Toulouse, France., Fulbright J; Division of Hematology/Oncology, Children's Mercy Hospital and Clinics, Kansas City, Missouri, USA., Rivolta C; Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland., Renella R; Division of Pediatrics, University Hospital Lausanne (CHUV), Lausanne, Switzerland., Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA., Beckmann JS; Service of Medical Genetics, University Hospital Lausanne (CHUV), Lausanne, Switzerland.; Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.; Clinical Bioinformatics, SIB Swiss Institute of Bioinformatics, Lausanne, Switzerland., Nicchitta CV; Department of Biochemistry, Duke University Medical Center, Durham, North Carolina, USA.; Department of Cell Biology, Duke University Medical Center, Durham, North Carolina, USA., Da Costa L; AP-HP, Service d'Hématologie Biologique, Hôpital Robert Debré, Paris, France.; Université Paris Cité, Paris, France.; Hematim EA4666, CURS, CHU Amiens, Amiens, France.; LABEX GR-EX, Paris, France., Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA.; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Gleizes PE; MCD, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, Toulouse, France.
Source: JCI insight [JCI Insight] 2024 Aug 01; Vol. 9 (17). Date of Electronic Publication: 2024 Aug 01.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE
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  Data: An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants.
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  Data: <searchLink fieldCode="AU" term="%22Fellmann+F%22">Fellmann F</searchLink>; The ColLaboratory, University of Lausanne, Lausanne, Switzerland.; Service of Medical Genetics, University Hospital Lausanne (CHUV), Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Saunders+C%22">Saunders C</searchLink>; University of Missouri Kansas City, School of Medicine, Kansas City, Missouri, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.<br /><searchLink fieldCode="AU" term="%22O'Donohue+MF%22">O'Donohue MF</searchLink>; MCD, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Reid+DW%22">Reid DW</searchLink>; Department of Biochemistry, Duke University Medical Center, Durham, North Carolina, USA.; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22McFadden+KA%22">McFadden KA</searchLink>; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Montel-Lehry+N%22">Montel-Lehry N</searchLink>; MCD, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Yu+C%22">Yu C</searchLink>; BGI-Shenzhen, Shenzhen, China.<br /><searchLink fieldCode="AU" term="%22Fang+M%22">Fang M</searchLink>; BGI-Shenzhen, Shenzhen, China.<br /><searchLink fieldCode="AU" term="%22Zhang+J%22">Zhang J</searchLink>; BGI-Shenzhen, Shenzhen, China.<br /><searchLink fieldCode="AU" term="%22Royer-Bertrand+B%22">Royer-Bertrand B</searchLink>; Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Farinelli+P%22">Farinelli P</searchLink>; Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Karboul+N%22">Karboul N</searchLink>; UMR 1149 INSERM, Faculté de Médecine Site Bichat, Paris, France.<br /><searchLink fieldCode="AU" term="%22Willer+JR%22">Willer JR</searchLink>; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Fievet+L%22">Fievet L</searchLink>; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Bhuiyan+ZA%22">Bhuiyan ZA</searchLink>; Service of Medical Genetics, University Hospital Lausanne (CHUV), Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Kleinhenz+AL%22">Kleinhenz AL</searchLink>; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Jadeau+J%22">Jadeau J</searchLink>; MCD, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Fulbright+J%22">Fulbright J</searchLink>; Division of Hematology/Oncology, Children's Mercy Hospital and Clinics, Kansas City, Missouri, USA.<br /><searchLink fieldCode="AU" term="%22Rivolta+C%22">Rivolta C</searchLink>; Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Renella+R%22">Renella R</searchLink>; Division of Pediatrics, University Hospital Lausanne (CHUV), Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Katsanis+N%22">Katsanis N</searchLink>; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Beckmann+JS%22">Beckmann JS</searchLink>; Service of Medical Genetics, University Hospital Lausanne (CHUV), Lausanne, Switzerland.; Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.; Clinical Bioinformatics, SIB Swiss Institute of Bioinformatics, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Nicchitta+CV%22">Nicchitta CV</searchLink>; Department of Biochemistry, Duke University Medical Center, Durham, North Carolina, USA.; Department of Cell Biology, Duke University Medical Center, Durham, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Da+Costa+L%22">Da Costa L</searchLink>; AP-HP, Service d'Hématologie Biologique, Hôpital Robert Debré, Paris, France.; Université Paris Cité, Paris, France.; Hematim EA4666, CURS, CHU Amiens, Amiens, France.; LABEX GR-EX, Paris, France.<br /><searchLink fieldCode="AU" term="%22Davis+EE%22">Davis EE</searchLink>; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA.; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.<br /><searchLink fieldCode="AU" term="%22Gleizes+PE%22">Gleizes PE</searchLink>; MCD, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, Toulouse, France.
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  Data: <searchLink fieldCode="JN" term="%22101676073%22">JCI insight</searchLink> [JCI Insight] 2024 Aug 01; Vol. 9 (17). <i>Date of Electronic Publication: </i>2024 Aug 01.
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