| http://purl.uniprot.org/citations/29067594 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/29067594 | http://www.w3.org/2000/01/rdf-schema#comment | "Heterogeneity of HbF levels in β0-thalassemia/HbE disease has been reported to be associated with variations in clinical manifestations of the disease, and several genetic-modifying factors beyond the β-globin gene cluster have been identified as HbF regulators. Down-regulation or heterozygous mutations of Krüppel-like factor 1 (KLF1) is associated with elevated HbF levels in non-thalassemia subjects. This study confirms that experimental down-regulation of KLF1 in β0-thalassemia/HbE-derived erythroblasts significantly increases HbF production (up to 52.3 ± 2.4%), albeit with slightly delayed erythroid terminal differentiation. KLF1 exome sequencing of 130 Thai β0-thalassemia/HbE patients without co-inheritance of α-thalassemia found six patients with KLF1 heterozygous mutations including rs2072596 (p.F182L; n = 5) and rs745347362 (p.P284L; n = 1) missense mutations. However, while these patients had high HbF levels (38.1 ± 7.5%), they were all associated with a severe clinical phenotype. These results suggest that while reduction of KLF1 expression in β0-thalassemia/HbE erythroblasts can increase HbF levels, it is not sufficient to alleviate the clinical phenotype."xsd:string |
| http://purl.uniprot.org/citations/29067594 | http://purl.org/dc/terms/identifier | "doi:10.1007/s12185-017-2357-3"xsd:string |
| http://purl.uniprot.org/citations/29067594 | http://purl.uniprot.org/core/author | "Smith D.R."xsd:string |
| http://purl.uniprot.org/citations/29067594 | http://purl.uniprot.org/core/author | "Tongsima S."xsd:string |
| http://purl.uniprot.org/citations/29067594 | http://purl.uniprot.org/core/author | "Fucharoen S."xsd:string |
| http://purl.uniprot.org/citations/29067594 | http://purl.uniprot.org/core/author | "Sripichai O."xsd:string |
| http://purl.uniprot.org/citations/29067594 | http://purl.uniprot.org/core/author | "Munkongdee T."xsd:string |
| http://purl.uniprot.org/citations/29067594 | http://purl.uniprot.org/core/author | "Khamphikham P."xsd:string |
| http://purl.uniprot.org/citations/29067594 | http://purl.uniprot.org/core/date | "2018"xsd:gYear |
| http://purl.uniprot.org/citations/29067594 | http://purl.uniprot.org/core/name | "Int J Hematol"xsd:string |
| http://purl.uniprot.org/citations/29067594 | http://purl.uniprot.org/core/pages | "297-310"xsd:string |
| http://purl.uniprot.org/citations/29067594 | http://purl.uniprot.org/core/title | "Genetic variation of Kruppel-like factor 1 (KLF1) and fetal hemoglobin (HbF) levels in betapisup>0pi/sup>-thalassemia/HbE disease."xsd:string |
| http://purl.uniprot.org/citations/29067594 | http://purl.uniprot.org/core/volume | "107"xsd:string |
| http://purl.uniprot.org/citations/29067594 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/29067594 |
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