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Recently, heterozygous germline mutations were identified in sterile alpha motif (SAM) domain-9 (SAMD9) and its paralog, SAMD9-like (SAMD9L) in children with monosomy 7 mediated MDS. Expression of SAMD9 and SAMD9L is induced by interferons and other inflammatory stimuli and causes reduced cell divis...
ORGANISM(S): Homo sapiens (Human) 
2021-03-24 | PXD020018 | Pride
In vivo expression of mutant Samd9l collaborates with inflammation to induce bone marrow failure
In vivo expression of mutant Samd9l collaborates with inflammation to induce bone marrow failure. [RNA-Seq]
SAMD9 and SAMD9L germline mutations have recently emerged as a new class of predispositions to pediatric myeloid neoplasms. Patients commonly have hypocellular bone marrows and a greater risk of developing clonal chromosome 7 deletions. We recently demonstrated that expressing SAMD9/SAMD9L mutations...
ORGANISM(S): Mus musculus 
2022-10-08 | GSE191147 | GEO
SAMD9 and SAMD9L germline mutations have recently emerged as a new class of predispositions to pediatric myeloid neoplasms. Patients commonly have hypocellular bone marrows and a greater risk of developing clonal chromosome 7 deletions. We recently demonstrated that expressing SAMD9/SAMD9L mutations...
ORGANISM(S): Mus musculus 
2022-10-08 | GSE190566 | GEO
Pediatric MDS-Associated Germline Mutations in SAMD9 and SAMD9L Impair Multiple Pathways in Primary Hematopoietic Cells
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