Recursive Partitioning to Differentiate Acquired From Inherited Bone Marrow Failure Syndromes
Sign Up to like & getrecommendations! Published in 2025 at "American Journal of Hematology"
DOI: 10.1002/ajh.70064
Abstract: Distinguishing inherited bone marrow failure (IBMF) from acquired aplastic anemia (aAA) at diagnosis is a major clinical challenge and is essential for appropriate treatment and patients' counseling. Genetic testing to exclude IBMF is frequently subject… read more here.
Keywords: marrow failure; recursive partitioning; bone marrow; ibmf ... See more keywords
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-025-01951-6
Abstract: Bone marrow failure (BMF) in idiopathic aplastic anemia (AA) and hypoplastic myelodysplastic neoplasms (MDS-h) results from the destruction of hematopoietic progenitors by autoreactive T cells; however, the molecular events driving the pathogenesis of these disorders… read more here.
Keywords: marrow failure; gene variants; immune related; bone marrow ... See more keywords
Hematopoietic development: a gap in our understanding of inherited bone marrow failure.
Sign Up to like & getrecommendations! Published in 2018 at "Experimental hematology"
DOI: 10.1016/j.exphem.2017.12.003
Abstract: Inherited bone marrow failure syndromes (IBMFS) represent a heterogeneous group of multisystem disorders that typically present with cytopenia in early childhood. Efforts to understand the underlying hematopoietic stem cell (HSC) losses have generally focused on… read more here.
Keywords: failure; marrow failure; inherited bone; bone marrow ... See more keywords
Significance of Clonal Mutations in Bone Marrow Failure and Inherited Myelodysplastic Syndrome/Acute Myeloid Leukemia Predisposition Syndromes.
Sign Up to like & getrecommendations! Published in 2018 at "Hematology/oncology clinics of North America"
DOI: 10.1016/j.hoc.2018.03.005
Abstract: Clonal hematopoiesis as a hallmark of myelodysplastic syndrome (MDS) is mediated by the selective advantage of clonal hematopoietic stem cells in a context-specific manner. Although primary MDS emerges without known predisposing cause and is associated… read more here.
Keywords: myelodysplastic syndrome; mds; marrow failure; bone marrow ... See more keywords
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes
Sign Up to like & getrecommendations! Published in 2017 at "Genetics in Medicine"
DOI: 10.1038/gim.2016.197
Abstract: Purpose:Precise genetic diagnosis of inherited bone marrow failure syndromes (IBMFS), a heterogeneous group of genetic disorders, is challenging but essential for precise clinical decision making.Methods:We analyzed 121 IBMFS patients using a targeted sequencing covering 184… read more here.
Keywords: failure syndromes; patients using; targeted sequencing; marrow failure ... See more keywords
PUMA-induced apoptosis drives bone marrow failure and genomic instability in telomerase-deficient mice.
Sign Up to like & getrecommendations! Published in 2025 at "Cell death and differentiation"
DOI: 10.1038/s41418-025-01557-w
Abstract: Bone marrow failure is a severe complication of human telomere biology disorders and predisposes individuals to secondary leukemia. A deeper understanding of this process could offer significant clinical benefits. Using a preclinical mouse model deficient… read more here.
Keywords: marrow failure; puma; biology; bone marrow ... See more keywords
Cell senescence and malignant transformation in the inherited bone marrow failure syndromes: Overlapping pathophysiology with therapeutic implications.
Sign Up to like & getrecommendations! Published in 2022 at "Seminars in hematology"
DOI: 10.1053/j.seminhematol.2022.01.003
Abstract: Fanconi anemia, telomeropathies and ribosomopathies are members of the inherited bone marrow failure syndromes, rare genetic disorders that lead to failure of hematopoiesis, developmental abnormalities, and cancer predisposition. While each disorder is caused by different… read more here.
Keywords: inherited bone; bone marrow; failure; marrow failure ... See more keywords
Somatic compensation of inherited bone marrow failure.
Sign Up to like & getrecommendations! Published in 2022 at "Seminars in hematology"
DOI: 10.1053/j.seminhematol.2022.07.002
Abstract: Inherited bone marrow failure syndromes (IBMFS) are a heterogeneous group of genetic disorders characterized by insufficient blood cell production and increased risk of transformation to myeloid malignancies. While genetically diverse, IBMFS are collectively defined by… read more here.
Keywords: somatic compensation; bone marrow; inherited bone; compensation ... See more keywords
A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure
Sign Up to like & getrecommendations! Published in 2020 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2002857117
Abstract: Significance Bone marrow failure (BMF) syndromes are inherited life-threatening conditions characterized by low blood cell production and predisposition to cancer. In this study we report a germ line frameshift variant in the Sp1 transcription factor… read more here.
Keywords: transcription; superactivation sp1; frameshift variant; sp1 ... See more keywords
ZBP1 activation triggers hematopoietic stem and progenitor cell death resulting in bone marrow failure in mice
Sign Up to like & getrecommendations! Published in 2024 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2309628121
Abstract: Significance Elucidating the cell death mechanisms involved in bone marrow failure (BMF) syndromes is crucial to develop prevention and treatment strategies. Here, we identify the mechanisms underlying the cell death pathways in hematopoietic stem and… read more here.
Keywords: marrow failure; hematopoietic stem; bone marrow; cell death ... See more keywords
Perinatal-Lethal Non-Immune Fetal Hydrops Attributed to MECOM-associated Bone Marrow Failure.
Sign Up to like & getrecommendations! Published in 2023 at "Cold Spring Harbor molecular case studies"
DOI: 10.1101/mcs.a006289
Abstract: Pathogenic variants in MECOM, a gene critical to the self-renewal and proliferation of hematopoietic stem cells, are known to cause a rare bone marrow failure syndrome associated with amegakaryocytic thrombocytopenia and bilateral radioulnar synostosis known… read more here.
Keywords: bone marrow; marrow failure; mecom associated; fetal hydrops ... See more keywords