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

著者: 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 - Science Translational Medicine 2021 被引用: 70

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.