Single-cell profiling of human bone marrow progenitors reveals mechanisms of failing erythropoiesis in Diamond-Blackfan anemia-Reference-Cited by-同舟云学术

Single-cell profiling of human bone marrow progenitors reveals mechanisms of failing erythropoiesis in Diamond-Blackfan anemia

Published:2021-09-08 Issue:610 Volume:13 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Iskander Deena¹^ORCID,Wang Guanlin²³^ORCID,Heuston Elisabeth F.⁴^ORCID,Christodoulidou Chrysi¹,Psaila Bethan³^ORCID,Ponnusamy Kanagaraju¹,Ren Hongwei¹^ORCID,Mokhtari Zeinab⁵⁶^ORCID,Robinson Mark¹^ORCID,Chaidos Aristeidis¹^ORCID,Trivedi Pritesh⁷,Trasanidis Nikolaos¹,Katsarou Alexia¹,Szydlo Richard¹^ORCID,Palii Carmen G.⁵^ORCID,Zaidi Mehmood H.¹^ORCID,Al-Oqaily Qais¹^ORCID,Caputo Valentina S.¹⁸,Roy Anindita³⁹^ORCID,Harrington Yvonne¹⁰^ORCID,Karnik Leena¹⁰,Naresh Kikkeri⁷^ORCID,Mead Adam J.³,Thongjuea Supat²^ORCID,Brand Marjorie⁵¹¹^ORCID,de la Fuente Josu¹¹⁰^ORCID,Bodine David M.⁴,Roberts Irene³⁹^ORCID,Karadimitris Anastasios¹^ORCID

Affiliation:

1. Centre for Haematology, Department of Immunology and Inflammation, Imperial College London, London W12 0NN, UK.

2. Medical Research Council (MRC) Weatherall Institute of Molecular Medicine (WIMM) Centre for Computational Biology, University of Oxford, Oxford OX3 9DS, UK.

3. Medical Research Council (MRC) Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, NIHR Biomedical Research Centre, University of Oxford, Oxford OX3 9DS, UK.

4. Hematopoiesis Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-442, USA.

5. Ottawa Hospital Research Institute, 501 Smyth Box 511, Ottawa, ON K1H 8L6, Canada.

6. Department of Medicine II, Würzburg University Hospital, Interdisciplinary Center for Clinical Research (IZKF), Laboratory for Experimental Stem Cell Transplantation, Würzburg, Germany.

7. Department of Histopathology, Imperial College Healthcare Trust, Du Cane Road, London W12 0HS, UK.

8. School of Applied Sciences, London South Bank University, London SE1 0AA, UK.

9. Department of Paediatrics, Children’s Hospital, John Radcliffe, University of Oxford, Oxford OX3 9DU, UK.

10. Department of Paediatrics, Imperial College Healthcare Trust, St Mary’s Hospital, Praed Street, London W2 1NY, UK.

11. Department of Cellular and Molecular Medicine, University of Ottawa, 501 Smyth Road, Ottawa, ON K1H 8L6, Canada.

Abstract

Genotype-phenotype correlations are revealed by bone marrow single-cell RNA sequencing in Diamond-Blackfan anemia.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

Reference83 articles.

1. Hallmarks of ribosomopathies

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3. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

4. Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis

5. Impaired cellular and humoral immunity is a feature of Diamond-Blackfan anaemia; experience of 107 unselected cases in the United Kingdom;Iskander D.;Br. J. Haematol.,2019

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