FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2784331584> ?p ?o ?g. }

• W2784331584 abstract "The majority of the cases of bone marrow failure syndromes/aplastic anaemias (BMFS/AA) are non-hereditary and considered idiopathic (80–85%). The peripheral blood picture is variable, with anaemia, neutropenia and/or thrombocytopenia, and the patients with idiopathic BMFS/AA may have a risk of transformation into a myelodysplastic syndrome (MDS) and/or an acute myeloid leukaemia (AML), as ascertained for all inherited BMFS. We already reported four patients with different forms of BMFS/AA with chromosome anomalies as primary etiologic event: the chromosome changes exerted an effect on specific genes, namely RUNX1, MPL, and FLI1, leading to the disease. We report two further patients with non-hereditary BM failure, with diagnosis of severe aplastic anaemia and pancytopenia caused by two different constitutional structural anomalies involving chromosome 8, and possibly leading to the disorder due to effects on the RUNX1T1 gene, which was hypo-expressed and hyper-expressed, respectively, in the two patients. The chromosome change was unbalanced in one patient, and balanced in the other one. We analyzed the sequence of events in the pathogenesis of the disease in the two patients, including a number of non-haematological signs present in the one with the unbalanced anomaly. We demonstrated that in these two patients the primary event causing BMFS/AA was the constitutional chromosome anomaly. If we take into account the cohort of 219 patients with a similar diagnosis in whom we made cytogenetic studies in the years 2003–2017, we conclude that cytogenetic investigations were instrumental to reach a diagnosis in 52 of them. We postulate that a chromosome change is the primary cause of BMFS/AA in a not negligible proportion of cases, as it was ascertained in 6 of these patients." @default.
• W2784331584 created "2018-01-26" @default.
• W2784331584 creator A5010725368 @default.
• W2784331584 creator A5014012113 @default.
• W2784331584 creator A5019456899 @default.
• W2784331584 creator A5020190052 @default.
• W2784331584 creator A5022712318 @default.
• W2784331584 creator A5030355845 @default.
• W2784331584 creator A5038785600 @default.
• W2784331584 creator A5040054809 @default.
• W2784331584 creator A5047542922 @default.
• W2784331584 creator A5048050903 @default.
• W2784331584 date "2018-01-11" @default.
• W2784331584 modified "2023-10-15" @default.
• W2784331584 title "Bone marrow failure may be caused by chromosome anomalies exerting effects on RUNX1T1 gene" @default.
• W2784331584 cites W1577577364 @default.
• W2784331584 cites W1985795219 @default.
• W2784331584 cites W1987084145 @default.
• W2784331584 cites W2024446761 @default.
• W2784331584 cites W2026899883 @default.
• W2784331584 cites W2027234456 @default.
• W2784331584 cites W2027255730 @default.
• W2784331584 cites W2035111765 @default.
• W2784331584 cites W2036841261 @default.
• W2784331584 cites W2037546451 @default.
• W2784331584 cites W2045031103 @default.
• W2784331584 cites W2068180510 @default.
• W2784331584 cites W2075012926 @default.
• W2784331584 cites W2080305950 @default.
• W2784331584 cites W2086209289 @default.
• W2784331584 cites W2100414579 @default.
• W2784331584 cites W2114570899 @default.
• W2784331584 cites W2128016314 @default.
• W2784331584 cites W2131595422 @default.
• W2784331584 cites W2144588736 @default.
• W2784331584 cites W2153213315 @default.
• W2784331584 cites W2155705576 @default.
• W2784331584 cites W2484746368 @default.
• W2784331584 doi "https://doi.org/10.1186/s13039-017-0352-2" @default.
• W2784331584 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5765665" @default.
• W2784331584 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29344089" @default.
• W2784331584 hasPublicationYear "2018" @default.
• W2784331584 type Work @default.
• W2784331584 sameAs 2784331584 @default.
• W2784331584 citedByCount "3" @default.
• W2784331584 countsByYear W27843315842019 @default.
• W2784331584 countsByYear W27843315842020 @default.
• W2784331584 crossrefType "journal-article" @default.
• W2784331584 hasAuthorship W2784331584A5010725368 @default.
• W2784331584 hasAuthorship W2784331584A5014012113 @default.
• W2784331584 hasAuthorship W2784331584A5019456899 @default.
• W2784331584 hasAuthorship W2784331584A5020190052 @default.
• W2784331584 hasAuthorship W2784331584A5022712318 @default.
• W2784331584 hasAuthorship W2784331584A5030355845 @default.
• W2784331584 hasAuthorship W2784331584A5038785600 @default.
• W2784331584 hasAuthorship W2784331584A5040054809 @default.
• W2784331584 hasAuthorship W2784331584A5047542922 @default.
• W2784331584 hasAuthorship W2784331584A5048050903 @default.
• W2784331584 hasBestOaLocation W27843315841 @default.
• W2784331584 hasConcept C109159458 @default.
• W2784331584 hasConcept C126322002 @default.
• W2784331584 hasConcept C142724271 @default.
• W2784331584 hasConcept C203014093 @default.
• W2784331584 hasConcept C2779282312 @default.
• W2784331584 hasConcept C2779382419 @default.
• W2784331584 hasConcept C2780007613 @default.
• W2784331584 hasConcept C2780525284 @default.
• W2784331584 hasConcept C2781440808 @default.
• W2784331584 hasConcept C28328180 @default.
• W2784331584 hasConcept C54355233 @default.
• W2784331584 hasConcept C71924100 @default.
• W2784331584 hasConcept C86803240 @default.
• W2784331584 hasConceptScore W2784331584C109159458 @default.
• W2784331584 hasConceptScore W2784331584C126322002 @default.
• W2784331584 hasConceptScore W2784331584C142724271 @default.
• W2784331584 hasConceptScore W2784331584C203014093 @default.
• W2784331584 hasConceptScore W2784331584C2779282312 @default.
• W2784331584 hasConceptScore W2784331584C2779382419 @default.
• W2784331584 hasConceptScore W2784331584C2780007613 @default.
• W2784331584 hasConceptScore W2784331584C2780525284 @default.
• W2784331584 hasConceptScore W2784331584C2781440808 @default.
• W2784331584 hasConceptScore W2784331584C28328180 @default.
• W2784331584 hasConceptScore W2784331584C54355233 @default.
• W2784331584 hasConceptScore W2784331584C71924100 @default.
• W2784331584 hasConceptScore W2784331584C86803240 @default.
• W2784331584 hasIssue "1" @default.
• W2784331584 hasLocation W27843315841 @default.
• W2784331584 hasLocation W27843315842 @default.
• W2784331584 hasLocation W27843315843 @default.
• W2784331584 hasLocation W27843315844 @default.
• W2784331584 hasLocation W27843315845 @default.
• W2784331584 hasOpenAccess W2784331584 @default.
• W2784331584 hasPrimaryLocation W27843315841 @default.
• W2784331584 hasRelatedWork W19206636 @default.
• W2784331584 hasRelatedWork W2060574364 @default.
• W2784331584 hasRelatedWork W2067127020 @default.
• W2784331584 hasRelatedWork W2125837235 @default.
• W2784331584 hasRelatedWork W224593611 @default.
• W2784331584 hasRelatedWork W2382894915 @default.
• W2784331584 hasRelatedWork W2500019632 @default.

• next