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Article

Pediatric MDS and bone marrow failure-associated germline mutations in SAMD9 and SAMD9L impair multiple pathways in primary hematopoietic cells.

Leukemia - 1 Nov 2021

Thomas Melvin E, Abdelhamed Sherif, Hiltenbrand Ryan, Schwartz Jason R, Sakurada Sadie Miki, Walsh Michael, Song Guangchun, Ma Jing, Pruett-Miller Shondra M, Klco Jeffery M

Abstract excerpt

Pediatric myelodysplastic syndromes (MDS) are a heterogeneous disease group associated with impaired hematopoiesis, bone marrow hypocellularity, and frequently have deletions involving chromosome 7 (monosomy 7). We and others recently identified heterozygous germline mutations in SAMD9 and SAMD9L in children with monosomy 7 and MDS. We previously demonstrated an antiproliferative effect of these gene products in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33731850
DOI: 10.1038/s41375-021-01212-6
PMCID: PMC8446103

Genes

SAMD9
SAMD9L

Provenance

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Pediatric MDS and bone marrow failure-associated germline mutations in SAMD9 and SAMD9L impair multiple pathways in primary hematopoietic cells.PMID 33731850Read ↗

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