2010
DOI: 10.3324/haematol.2010.025619
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Inherited bone marrow failure syndromes

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Cited by 116 publications
(89 citation statements)
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“…2 In contrast, inherited forms of aplastic anemia can be caused by more than 30 mutations in genes involved in biological pathways such as DNA repair, ribosome biogenesis and telomere maintenance. 3 Telomeres are specialized nucleoprotein structures located at the end of linear chromosomes. 4 They are composed of long stretches of repetitive TTAGGG sequences that are bound by an array of proteins known as shelterins (TRF1, TRF2, TIN2, RAP1, TPP1 and POT1) 5 which are important for telomere protection by preventing telomere fusions and telomere fragility.…”
Section: Introductionmentioning
confidence: 99%
“…2 In contrast, inherited forms of aplastic anemia can be caused by more than 30 mutations in genes involved in biological pathways such as DNA repair, ribosome biogenesis and telomere maintenance. 3 Telomeres are specialized nucleoprotein structures located at the end of linear chromosomes. 4 They are composed of long stretches of repetitive TTAGGG sequences that are bound by an array of proteins known as shelterins (TRF1, TRF2, TIN2, RAP1, TPP1 and POT1) 5 which are important for telomere protection by preventing telomere fusions and telomere fragility.…”
Section: Introductionmentioning
confidence: 99%
“…We do not yet know all of the inherited genetic variants that can result in a clinical BM failure phenotype, or in a specific IBMFS phenotype. 8,9 Classical mutations can be found in individuals without physical findings of an IBMFS and the same mutation can be associated with very diverse clinical presentations. 5,9 Whereas better diagnostic algorithms using phenotypic, clinical laboratory, and genetic data are evolving rapidly and new genetic variants continue to be discovered, current testing does result in improved but not absolute exclusion of a specific IBMFS.…”
Section: Diagnosismentioning
confidence: 99%
“…8,9 Classical mutations can be found in individuals without physical findings of an IBMFS and the same mutation can be associated with very diverse clinical presentations. 5,9 Whereas better diagnostic algorithms using phenotypic, clinical laboratory, and genetic data are evolving rapidly and new genetic variants continue to be discovered, current testing does result in improved but not absolute exclusion of a specific IBMFS. 7 A different example of the expanded tool kit provided by genetic testing is a recent report in which an infant presented with pancytopenia and BM failure without megaloblastic changes (albeit with some dysplasia) and normal B12 and folate levels.…”
Section: Diagnosismentioning
confidence: 99%
“…Some of the inherited cases can be linked to various syndromes, for example, Fanconi anemia (FA) or dyskeratosis congenita (DC), but others remain uncharacterized. 4 Familial AA is an extremely rare inherited subtype affecting multiple individuals in a family. Patients typically only have features of AA; the absence of any somatic features making it distinct from other inherited aplastic anemias.…”
Section: Introductionmentioning
confidence: 99%