Single-cell profiling of human bone marrow progenitors reveals mechanisms of failing erythropoiesis in Diamond-Blackfan anemia
Deena Iskander(Imperial College London), Guanlin Wang(MRC Weatherall Institute of Molecular Medicine), Elisabeth F. Heuston(National Human Genome Research Institute), Chrysi Christodoulidou(Imperial College London), Bethan Psaila(MRC Weatherall Institute of Molecular Medicine), Kanagaraju Ponnusamy(Imperial College London), H B Ren(Imperial College London), Zeinab Mokhtari(Ottawa Hospital), Mark E. Robinson(Imperial College London), Aristeidis Chaidos(Imperial College London), Pritesh Trivedi(Imperial College Healthcare NHS Trust), Nikolaos Trasanidis(Imperial College London), Alexia Katsarou(Imperial College London), Richard Szydlo(Imperial College London), Carmen G. Palii(Ottawa Hospital), Mehmood H. Zaidi(Imperial College London), Qais Al-Oqaily(Imperial College London), Valentina S. Caputo(London South Bank University), Anindita Roy(John Radcliffe Hospital), Yvonne Harrington(Imperial College Healthcare NHS Trust), Leena Karnik(Imperial College Healthcare NHS Trust), Kikkeri N. Naresh(Imperial College Healthcare NHS Trust), Adam J. Mead(MRC Weatherall Institute of Molecular Medicine), Supat Thongjuea(MRC Weatherall Institute of Molecular Medicine), Marjorie Brand(University of Ottawa), Josu de la Fuente(Imperial College Healthcare NHS Trust), David M. Bodine(National Human Genome Research Institute), Irene Roberts(John Radcliffe Hospital), Anastasios Karadimitris(Imperial College London)
Cited by 69Open Access
Abstract
expression, leading to milder anemia and improved corticosteroid response. This integrative analysis approach identified distinct pathways of erythroid failure and defined genotype-phenotype correlations in DBA. These findings may help facilitate therapeutic target discovery.
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