FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2177453003> ?p ?o ?g. }

• W2177453003 endingPage "186" @default.
• W2177453003 startingPage "186" @default.
• W2177453003 abstract "Abstract Introduction Hereditary Persistence of Fetal Hemoglobin (HPFH) and δβ-thalassemia are genetic disorders characterized by elevated levels of fetal hemoglobin (HbF) in adulthood. Deletions of variable sizes, and at different positions, that involve the β-globin gene complex on chromosome 11 are associated with these disorders. The distinction between these conditions is made based on clinical and hematological data. Deletional HPFH includes a wide range of conditions, but typically it is characterized in heterozygotes by levels of HbF of 15% to 30% with normal red blood cell indices, while heterozygotes for δβ-thalassemia tend to have elevated levels of HbF that are lower (5% to 20%) and accompanied by mild anemia with hypochromic, microcytic red blood cell indices. MicroRNAs (miRNAs) have been described to have a possible role in globin switching and can modulate transcriptional erythroid-specific regulators. To the best of our knowledge miRNAs have not been analyzed in HPFH and δβ-thalassemia. The aim of this study was to investigate the miRNAs expression profile and possible post-transcriptional role of these molecules in relation to the lack of normal suppression of γ genes in these genetic disorders. Methods CD34(+)-derived erythroid cells from two HPFH-2 individuals and two δβ-thalassaemia Sicilian type patients (DB) and healthy controls (CTRL) were cultured for 13 days to examine the expression profile of miRNAs. The miRNAs were hybridized using an Agilent miRNA microarray platform and the profiles were obtained through bioinformatics data analysis using GeneSpring software. qPCR analysis was used to validate the miRNA expression (TaqMan® miRNAs assays) and to quantify gene expression of 19 transcription factors. Different databases, such as miRBase, TargetScan, microRNA.org and BioGPS were used to determine the predicted targets of miRNAs data found. Results Six miRNAs were up-regulated in HPFH and in DB compared to CTRL: miR-146b-5p, miR-181a, miR-342-3p, miR-362-3p, miR-362-5p and miR-365. Five miRNAs were up-regulated in HPFH, compared to DB: miR-223, miR-630, miR-638, miR-1246 and miR-1290. Nine miRNAs were up-regulated in DB compared to HPFH: miR-10a, miR-21*, miR-33b*, miR-96, miR-128, miR-194, miR-210, miR-424 and miR-1275. The ALK4 and the GATA2 mRNAs were significantly up-regulated in HPFH, compared to DB. The BCL11A and the SH3BGRL2 mRNAs were significantly down-regulated in HPFH compared to DB. In silico analysis and the literature show that several miRNAs have targets related to HbF production or erythropoiesis. These include miR-10a, miR-33b*, miR-96, miR-128, miR-210, miR-223, miR-342-3p, miR-362-3p, miR-424 and miR-630. Conclusion The comparison of miRNA and transcription factor profiles suggests differences in the expressions of several miRNAs that may influence γ-globin gene expression. These data may contribute to understanding the phenotypic differences found between deletional HPFH and δβ-thalassemia. Financial support by FAPESP and CNPq/INCTS. Disclosures: No relevant conflicts of interest to declare." @default.
• W2177453003 created "2016-06-24" @default.
• W2177453003 creator A5012784832 @default.
• W2177453003 creator A5032043092 @default.
• W2177453003 creator A5052529953 @default.
• W2177453003 creator A5053053577 @default.
• W2177453003 creator A5067515209 @default.
• W2177453003 creator A5067713063 @default.
• W2177453003 creator A5068413778 @default.
• W2177453003 creator A5081826939 @default.
• W2177453003 date "2013-11-15" @default.
• W2177453003 modified "2023-10-17" @default.
• W2177453003 title "HPFH and Delta-Beta Thalassemia Have Different Profiles Of Micrornas and Transcription Factors" @default.
• W2177453003 doi "https://doi.org/10.1182/blood.v122.21.186.186" @default.
• W2177453003 hasPublicationYear "2013" @default.
• W2177453003 type Work @default.
• W2177453003 sameAs 2177453003 @default.
• W2177453003 citedByCount "3" @default.
• W2177453003 countsByYear W21774530032015 @default.
• W2177453003 countsByYear W21774530032022 @default.
• W2177453003 crossrefType "journal-article" @default.
• W2177453003 hasAuthorship W2177453003A5012784832 @default.
• W2177453003 hasAuthorship W2177453003A5032043092 @default.
• W2177453003 hasAuthorship W2177453003A5052529953 @default.
• W2177453003 hasAuthorship W2177453003A5053053577 @default.
• W2177453003 hasAuthorship W2177453003A5067515209 @default.
• W2177453003 hasAuthorship W2177453003A5067713063 @default.
• W2177453003 hasAuthorship W2177453003A5068413778 @default.
• W2177453003 hasAuthorship W2177453003A5081826939 @default.
• W2177453003 hasConcept C104317684 @default.
• W2177453003 hasConcept C145059251 @default.
• W2177453003 hasConcept C150194340 @default.
• W2177453003 hasConcept C153911025 @default.
• W2177453003 hasConcept C172680121 @default.
• W2177453003 hasConcept C2776317666 @default.
• W2177453003 hasConcept C2777799968 @default.
• W2177453003 hasConcept C2777940137 @default.
• W2177453003 hasConcept C2779234561 @default.
• W2177453003 hasConcept C54355233 @default.
• W2177453003 hasConcept C86803240 @default.
• W2177453003 hasConceptScore W2177453003C104317684 @default.
• W2177453003 hasConceptScore W2177453003C145059251 @default.
• W2177453003 hasConceptScore W2177453003C150194340 @default.
• W2177453003 hasConceptScore W2177453003C153911025 @default.
• W2177453003 hasConceptScore W2177453003C172680121 @default.
• W2177453003 hasConceptScore W2177453003C2776317666 @default.
• W2177453003 hasConceptScore W2177453003C2777799968 @default.
• W2177453003 hasConceptScore W2177453003C2777940137 @default.
• W2177453003 hasConceptScore W2177453003C2779234561 @default.
• W2177453003 hasConceptScore W2177453003C54355233 @default.
• W2177453003 hasConceptScore W2177453003C86803240 @default.
• W2177453003 hasIssue "21" @default.
• W2177453003 hasLocation W21774530031 @default.
• W2177453003 hasOpenAccess W2177453003 @default.
• W2177453003 hasPrimaryLocation W21774530031 @default.
• W2177453003 hasRelatedWork W1572219498 @default.
• W2177453003 hasRelatedWork W2009966535 @default.
• W2177453003 hasRelatedWork W2044007876 @default.
• W2177453003 hasRelatedWork W2406893243 @default.
• W2177453003 hasRelatedWork W2408406049 @default.
• W2177453003 hasRelatedWork W2429131859 @default.
• W2177453003 hasRelatedWork W2433301716 @default.
• W2177453003 hasRelatedWork W2891600339 @default.
• W2177453003 hasRelatedWork W3187101485 @default.
• W2177453003 hasRelatedWork W3200430250 @default.
• W2177453003 hasVolume "122" @default.
• W2177453003 isParatext "false" @default.
• W2177453003 isRetracted "false" @default.
• W2177453003 magId "2177453003" @default.
• W2177453003 workType "article" @default.