Article
Lipid metabolism transcriptomic signature of defective erythropoiesis in Diamond Blackfan anemia syndrome.
Blood advances - 14 Apr 2026
Deng Kaiwen, Wang Yu, Min Joseph C, Liu Xiaofang, Ueharu Hiroki, Myers Greggory, Yu Lei, Hammoud Susan, Adam Adham, Saba Rilie, Natogi Vaneesha, Drysdale Claire, Chen Brandon, Yee Jennifer, Kitzman Jacob O, Lyssiotis Costas A, Mishina Yuji, Jones Morgan, Kaartinen Vesa, Guan Yuanfang, Khoriaty Rami, Engel James Douglas, Singh Sharon A
Abstract excerpt
ABSTRACT: Analysis of Diamond Blackfan anemia syndrome (DBAS) cohorts and animal models has not revealed a potential mechanism for the variable anemia phenotype, a key feature of this disease. Here, we used an established Rpl5Skax23-Jus/+ murine DBAS model to study this dynamic erythropoiesis deficiency. These haploinsufficient mice exhibit variably penetrant craniofacial and cardiac defects mimicking the...
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