FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1558112205> ?p ?o ?g. }

• W1558112205 endingPage "643" @default.
• W1558112205 startingPage "635" @default.
• W1558112205 abstract "Thalassaemia is characterized by the reduced or absent production of globins in the haemoglobin molecule leading to imbalanced α-globin/non α-globin chains. HbE, the result of a G to A mutation in codon 26 of the HBB (β-globin) gene, activates a cryptic 5' splice site in codon 25 leading to a reduction of correctly spliced β(E) -globin (HBB:c.79G>A) mRNA and consequently β(+) -thalassaemia. A wide range of clinical severities in bothα- and β-thalassaemia syndromes, from nearly asymptomatic to transfusion-dependent, has been observed. The correlation between clinical heterogeneity in various genotypes of thalassaemia and the levels of globin gene expression and β(E) -globin pre-mRNA splicing were examined using multiplex quantitative real-time reverse transcription polymerase chain reaction (RT-qPCR) and allele-specific RT-qPCR. The α-globin/non α-globin mRNA ratio was demonstrated to be a good indicator for disease severity among different thalassaemia disorders. However, the α-globin/non α-globin mRNA ratio ranged widely in β-thalassaemia/HbE patients, with no significant difference between mild and severe phenotypes. Interestingly, the correctly to aberrantly spliced β(E) -globin mRNA ratio in 30% of mild β-thalassaemia/HbE patients was higher than that of the severe patients. The splicing process of β(E) -globin pre-mRNA differs among β-thalassaemia/HbE patients and serves as one of the modifying factors for disease severity." @default.
• W1558112205 created "2016-06-24" @default.
• W1558112205 creator A5038294163 @default.
• W1558112205 creator A5058567889 @default.
• W1558112205 creator A5060714010 @default.
• W1558112205 creator A5063045900 @default.
• W1558112205 creator A5065494072 @default.
• W1558112205 creator A5067331111 @default.
• W1558112205 creator A5070648467 @default.
• W1558112205 date "2011-07-07" @default.
• W1558112205 modified "2023-10-17" @default.
• W1558112205 title "Molecular analysis of globin gene expression in different thalassaemia disorders: individual variation of βE pre-mRNA splicing determine disease severity" @default.
• W1558112205 cites W1598569053 @default.
• W1558112205 cites W1944811154 @default.
• W1558112205 cites W1952681831 @default.
• W1558112205 cites W1972642606 @default.
• W1558112205 cites W1983173999 @default.
• W1558112205 cites W2012256960 @default.
• W1558112205 cites W2029937284 @default.
• W1558112205 cites W2041861325 @default.
• W1558112205 cites W2052961424 @default.
• W1558112205 cites W2064545896 @default.
• W1558112205 cites W2069801744 @default.
• W1558112205 cites W2072881292 @default.
• W1558112205 cites W2075645055 @default.
• W1558112205 cites W2103008262 @default.
• W1558112205 cites W2109554332 @default.
• W1558112205 cites W2115103369 @default.
• W1558112205 cites W2117767449 @default.
• W1558112205 cites W2151333153 @default.
• W1558112205 cites W2156429345 @default.
• W1558112205 cites W2330458542 @default.
• W1558112205 cites W4246480901 @default.
• W1558112205 cites W4302354217 @default.
• W1558112205 cites W61568725 @default.
• W1558112205 cites W2140061480 @default.
• W1558112205 doi "https://doi.org/10.1111/j.1365-2141.2011.08770.x" @default.
• W1558112205 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21732929" @default.
• W1558112205 hasPublicationYear "2011" @default.
• W1558112205 type Work @default.
• W1558112205 sameAs 1558112205 @default.
• W1558112205 citedByCount "18" @default.
• W1558112205 countsByYear W15581122052012 @default.
• W1558112205 countsByYear W15581122052013 @default.
• W1558112205 countsByYear W15581122052015 @default.
• W1558112205 countsByYear W15581122052016 @default.
• W1558112205 countsByYear W15581122052017 @default.
• W1558112205 countsByYear W15581122052018 @default.
• W1558112205 countsByYear W15581122052019 @default.
• W1558112205 countsByYear W15581122052020 @default.
• W1558112205 countsByYear W15581122052021 @default.
• W1558112205 crossrefType "journal-article" @default.
• W1558112205 hasAuthorship W1558112205A5038294163 @default.
• W1558112205 hasAuthorship W1558112205A5058567889 @default.
• W1558112205 hasAuthorship W1558112205A5060714010 @default.
• W1558112205 hasAuthorship W1558112205A5063045900 @default.
• W1558112205 hasAuthorship W1558112205A5065494072 @default.
• W1558112205 hasAuthorship W1558112205A5067331111 @default.
• W1558112205 hasAuthorship W1558112205A5070648467 @default.
• W1558112205 hasBestOaLocation W15581122051 @default.
• W1558112205 hasConcept C104317684 @default.
• W1558112205 hasConcept C105580179 @default.
• W1558112205 hasConcept C125996951 @default.
• W1558112205 hasConcept C153911025 @default.
• W1558112205 hasConcept C203014093 @default.
• W1558112205 hasConcept C2776175824 @default.
• W1558112205 hasConcept C2779668550 @default.
• W1558112205 hasConcept C54355233 @default.
• W1558112205 hasConcept C54458228 @default.
• W1558112205 hasConcept C67705224 @default.
• W1558112205 hasConcept C86803240 @default.
• W1558112205 hasConcept C91238131 @default.
• W1558112205 hasConceptScore W1558112205C104317684 @default.
• W1558112205 hasConceptScore W1558112205C105580179 @default.
• W1558112205 hasConceptScore W1558112205C125996951 @default.
• W1558112205 hasConceptScore W1558112205C153911025 @default.
• W1558112205 hasConceptScore W1558112205C203014093 @default.
• W1558112205 hasConceptScore W1558112205C2776175824 @default.
• W1558112205 hasConceptScore W1558112205C2779668550 @default.
• W1558112205 hasConceptScore W1558112205C54355233 @default.
• W1558112205 hasConceptScore W1558112205C54458228 @default.
• W1558112205 hasConceptScore W1558112205C67705224 @default.
• W1558112205 hasConceptScore W1558112205C86803240 @default.
• W1558112205 hasConceptScore W1558112205C91238131 @default.
• W1558112205 hasIssue "5" @default.
• W1558112205 hasLocation W15581122051 @default.
• W1558112205 hasLocation W15581122052 @default.
• W1558112205 hasOpenAccess W1558112205 @default.
• W1558112205 hasPrimaryLocation W15581122051 @default.
• W1558112205 hasRelatedWork W1979728376 @default.
• W1558112205 hasRelatedWork W2006783732 @default.
• W1558112205 hasRelatedWork W2034257028 @default.
• W1558112205 hasRelatedWork W2055918905 @default.
• W1558112205 hasRelatedWork W2062368646 @default.
• W1558112205 hasRelatedWork W2073190537 @default.
• W1558112205 hasRelatedWork W2121350077 @default.
• W1558112205 hasRelatedWork W2430266329 @default.
• W1558112205 hasRelatedWork W348883870 @default.

• next