Article

A lipid metabolism defect is an underlying contributor to Diamond Blackfan anemia syndrome

2025-05-27

Abstract excerpt

Analysis of neither Diamond Blackfan anemia syndrome (DBAS) cohorts nor animal models has revealed a potential mechanism for the variable anemia phenotype, a key feature of this disease. Here, we utilized an established Rpl5 Skax23-Jus/+ murine DBAS model in order to study this dynamic erythropoiesis deficiency. These haploinsufficient mice exhibit variably penetrant craniofacial and cardiac defects mimicking th...

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Literature Corpus work: 07d45719-427c-5941-9242-be42bca105bf
DOI: 10.1101/2025.05.22.654334

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