RACGAP1 variants in a sporadic case of CDA III implicate the dysfunction of centralspindlin as the basis of the disease Research Letter


Authors: Wontakal, S. N.; Britto, M.; Zhang, H.; Han, Y.; Gao, C.; Tannenbaum, S.; Durham, B. H.; Lee, M. T.; An, X.; Mishima, M.
Title: RACGAP1 variants in a sporadic case of CDA III implicate the dysfunction of centralspindlin as the basis of the disease
Keywords: unclassified drug; genetics; letter; metabolism; cell division; erythroblast; erythroid precursor cell; erythropoiesis; amino acid substitution; green fluorescent protein; enzyme activity; bone marrow biopsy; erythroid cell; enucleation; guanosine triphosphatase activating protein; mgcracgap; gtpase-activating proteins; protein variant; cd34 selection; short hairpin rna; rho guanine nucleotide binding protein; rac protein; cytokinesis; protein hydrolysis; autosomal recessive inheritance; multinuclear cell; gene knockdown; humans; human; whole exome sequencing; umbilical cord blood cell; l396q variant; p432s variant; protein cyk4; protein mgcracgap; centralspindlin; congenital dyserythropoietic anemia type 3; congenital dyserythropoietic anemia; anemia, dyserythropoietic, congenital
Journal Title: Blood
Volume: 139
Issue: 9
ISSN: 0006-4971
Publisher: American Society of Hematology  
Date Published: 2022-03-03
Start Page: 1413
End Page: 1418
Language: English
DOI: 10.1182/blood.2021012334
PUBMED: 34818416
PROVIDER: scopus
PMCID: PMC8900277
DOI/URL:
Notes: Letter -- Export Date: 1 April 2022 -- Source: Scopus
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  1. Benjamin Heath Durham
    115 Durham