Single-cell profiling of human bone marrow progenitors reveals mechanisms of failing erythropoiesis in Diamond-Blackfan anemia
Deena Iskander, Guanlin Wang, Elisabeth F. Heuston, Chrysi Christodoulidou, Bethan Psaila, Kanagaraju Ponnusamy, H B Ren, Zeinab Mokhtari, Mark E. Robinson, Aristeidis Chaidos, Pritesh Trivedi, Nikolaos Trasanidis, Alexia Katsarou, Richard Szydlo, Carmen G. Palii, Mehmood H. Zaidi, Qais Al-Oqaily, Valentina S. Caputo, Anindita Roy, Yvonne Harrington, Leena Karnik, Kikkeri N. Naresh, Adam J. Mead, Supat Thongjuea, Marjorie Brand, Josu de la Fuente, David M. Bodine, Irene Roberts, Anastasios Karadimitris
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.