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
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
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
De novo NUF2 variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia
Sign Up to like & getrecommendations! Published in 2022 at "British Journal of Haematology"
DOI: 10.1111/bjh.18461
Abstract: In a patient with severe microcephaly, congenital bone marrow failure, growth retardation, and renal hypoplasia, we identified a likely pathogenic variant in NUF2 that impairs the cell's ability to properly complete mitosis. Interestingly, these clinical… read more here.
Keywords: renal hypoplasia; bone marrow; marrow failure;
Next‐generation sequencing in hypoplastic bone marrow failure: What difference does it make?
Sign Up to like & getrecommendations! Published in 2020 at "European Journal of Haematology"
DOI: 10.1111/ejh.13513
Abstract: Hypoplastic bone marrow failure is a diagnostic feature of multiple haematological disorders, which also share a substantial overlap of clinical symptoms. Hence, discrimination of underlying disorders in patients presenting with hypoplastic bone marrow failure remains… read more here.
Keywords: marrow failure; hypoplastic bone; bone marrow;
IL-6 blockade reverses bone marrow failure induced by human acute myeloid leukemia
Sign Up to like & getrecommendations! Published in 2020 at "Science Translational Medicine"
DOI: 10.1126/scitranslmed.aax5104
Abstract: Acute myeloid leukemia inhibits normal erythroid differentiation through paracrine effects of IL-6. Sometimes, crowding is not the problem Bone marrow failure is a common and potentially deadly consequence of acute myeloid leukemia. Although traditional thinking… read more here.
Keywords: myeloid leukemia; acute myeloid; failure; marrow failure ... See more keywords
Inherited bone marrow failure syndromes: considerations pre- and posttransplant.
Sign Up to like & getrecommendations! Published in 2017 at "Blood"
DOI: 10.1182/blood-2017-05-781799
Abstract: Patients with inherited bone marrow failure syndromes are usually identified when they develop hematologic complications such as severe bone marrow failure, myelodysplastic syndrome, or acute myeloid leukemia. They often have specific birth defects or other… read more here.
Keywords: marrow failure; inherited bone; bone marrow;