Pediatric MDS and Bone Marrow Failure-Associated Germline Mutations in SAMD9 and SAMD9L Impair Multiple Pathways in Primary Hematopoietic Cells
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Summary
It is shown that S AMD9 and SAMD9L are multifunctional proteins that cause profound alterations in cell cycle, cell proliferation, and protein translation in HSPCs and that expression of these genes and their mutations leads to a cellular environment that promotes DNA damage repair defects and ultimately apoptosis in hematopoietic cells.
- Type
- article
- Published
- 2021-03-17
- Cited by
- 48
- References
- 52
- Access
- Open access
- OpenAlex
- https://openalex.org/W3136210238
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:232247039
Keywords
Germline, Haematopoiesis, Bone marrow, Germline mutation, Medicine
References
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- Ribosomopathies: human disorders of ribosome dysfunction.
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- A distinctive DNA damage response in human hematopoietic stem cells reveals an apoptosis-independent role for p53 in self-renewal.
- DNA repair gene variants are associated with an increased risk of myelodysplastic syndromes in a Czech population
Cited by
- Somatic mosaicism in inherited bone marrow failure syndromes
- Clinical Evolution, Genetic Landscape, and Trajectories of Clonal Hematopoiesis in SAMD9/SAMD9L Syndromes
- The Significance of CUX1 and Chromosome 7 in Myeloid Malignancies
- Genetic barcoding systematically compares genes in del(5q) MDS and reveals a central role for CSNK1A1 in clonal expansion
- Structure and function of an effector domain in antiviral factors and tumor suppressors SAMD9 and SAMD9L
- Evolution of Graves’ Disease during Immune Reconstitution following Nonmyeloablative Haploidentical Peripheral Blood Stem Cell Transplantation in a Boy Carrying Germline SAMD9L and FLT3 Variants
- Clonal Hematopoiesis: Role in Hematologic and Non-Hematologic Malignancies
- Mutant Samd9l expression impairs hematopoiesis and induces bone marrow failure in mice
- Myxoma virus lacking the host range determinant M062 stimulates cGAS-dependent type 1 interferon response and unique transcriptomic changes in human monocytes/macrophages
- Clinical characteristics of patients with the SAMD9/SAMD9L gene defects
- Approach Toward Germline Predisposition Syndromes in Patients with Hematologic Malignancies
- Inherited Bone Marrow Failure Syndromes: A review of current practices and potential future research directions
- Five-Year Assessment of Multiple Gene Variants Associated with Bone Marrow Hypocellularity, Reduced Bone Density, and Ovarian Insufficiency in Adolescence
- Bone marrow morphologic and neuroradiologic findings in a case of pediatric myelodysplastic syndrome arising in ataxia‐pancytopenia syndrome
- The inflammatory and tumor suppressor SAMD9L acts through a Schlafen-like box to restrict HIV and inhibit cell translation in SAAD/ATXPC
- Severe hematopoietic stem cell inflammation compromises chronic granulomatous disease gene therapy
- Oncogenic RAS promotes leukemic transformation of CUX1-deficient cells
- Viral host range factors antagonize pathogenic SAMD9 and SAMD9L variants.
- Pediatric myelodysplastic syndrome.
- A familial SAMD9 variant present in pediatric myelodysplastic syndrome
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