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
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
Biomarkers in Acute Heart Failure Syndromes: An Update.
Sign Up to like & getrecommendations! Published in 2021 at "Current cardiology reviews"
DOI: 10.2174/1573403x17666210909170415
Abstract: Heart failure is one of the leading healthcare problems in the world. Clinical data lacks sensitivity and specificity in the diagnosis of heart failure. Laboratory biomarkers are a non-invasive method of assessing suspected decompensated heart… read more here.
Keywords: biomarkers acute; heart; failure syndromes; heart failure ... See more keywords
The role of androgen therapy in acquired aplastic anemia and other bone marrow failure syndromes
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Oncology"
DOI: 10.3389/fonc.2023.1135160
Abstract: Bone marrow failure syndromes are a heterogeneous group of diseases. With the major advancements in diagnostic tools and sequencing techniques, these diseases may be better classified and therapies may be further tailored. Androgens, a historic… read more here.
Keywords: bone marrow; marrow failure; failure syndromes;