Defective RAB31-mediated megakaryocytic early endosomal trafficking of VWF, EGFR, and M6PR in RUNX1 deficiency

Transcription factor RUNX1 is a master regulator of hematopoiesis and megakaryopoiesis. RUNX1 haplodeficiency (RHD) is associated with thrombocytopenia and platelet granule deficiencies and dysfunction. Platelet profiling of our study patient with RHD showed decreased expression of RAB31, a small GT...

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Detalles Bibliográficos
Autores principales: Jalagadugula, Gauthami, Mao, Guangfen, Goldfinger, Lawrence E., Wurtzel, Jeremy, Del Carpio-Cano, Fabiola, Lambert, Michele P., Estevez, Brian, French, Deborah L., Poncz, Mortimer, Rao, A. Koneti
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Hematology 2022
Materias:
Platelets and Thrombopoiesis
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9631641/
https://www.ncbi.nlm.nih.gov/pubmed/35839075
http://dx.doi.org/10.1182/bloodadvances.2021006945

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9631641/
https://www.ncbi.nlm.nih.gov/pubmed/35839075
http://dx.doi.org/10.1182/bloodadvances.2021006945

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