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Diego Quinones Raffo on Muck Rack

Diego Quinones Raffo

As seen in: Nature
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Articles

Imputing causality and clonal dynamics from single-cell transcriptomics in paroxysmal nocturnal hemoglobinuria

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By Hiroki Mizumaki, Shouguo Gao, Zhijie Wu, Fernanda Gutierrez-Rodrigues, Olga Rios, Jennifer Lotter, Sachiko Kajigaya, Jibran Durrani, Emma M. Groarke, Bhavisha Patel Verified, Neal Young, Lemlem Alemu, Diego Quinones Raffo, Ivana Darden
| Nature Verified
Abstract Paroxysmal nocturnal hemoglobinuria (PNH) originates from hematopoietic stem cells (HSCs) harboring somatic mutations in the phosphatidylinositol glycan class A (PIGA) gene. Clonal expansion of PIGA-mutated cells occurs uniquely in the setting of bone marrow (BM) failure, but specific pathophysiologic mechanisms remain unclear. We performed single-cell RNA sequencing (scRNA-seq) of BM cells from patients with large (> 50%) and small (10–50%) PNH cell fractions.
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