Hematopoietic development: a gap in our understanding of inherited bone marrow failure.
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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
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes
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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.
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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
Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant
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DOI: 10.1111/bjh.18491
Abstract: Germline mutations in tubulin beta class I (TUBB), which encodes one of the β‐tubulin isoforms, were previously associated with neurological and cutaneous abnormalities. Here, we describe the first case of inherited bone marrow (BM) failure,… read more here.
Keywords: inherited bone; bone marrow; beta class; tubulin beta ... See more keywords
Inherited bone marrow failure syndromes: considerations pre- and posttransplant.
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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;
Clonal hematopoiesis in the inherited bone marrow failure syndromes.
Sign Up to like & getrecommendations! Published in 2020 at "Blood"
DOI: 10.1182/blood.2019000990
Abstract: Inherited bone marrow failure syndromes (IBMFS) are characterized by ineffective hematopoiesis and increased risk of developing myeloid malignancy. The pathophysiologies of different IBMFS are variable, and can relate to defects in diverse biological processes, including… read more here.
Keywords: hematopoiesis; failure syndromes; clonal hematopoiesis; marrow failure ... See more keywords