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http://purl.uniprot.org/citations/23057549http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/23057549http://www.w3.org/2000/01/rdf-schema#comment"

Aim

In humans, fetal hemoglobin (HbF) production is controlled by many intricate mechanisms that, to date, remain only partly understood.

Patients & methods

Pharmacogenomic analysis of the effects of hydroxyurea (HU) on HbF production was undertaken in a collection of Hellenic β-thalassemia and sickle cell disease (SCD) compound heterozygotes and a collection of healthy and KLF1-haploinsufficient Maltese adults, to identify genomic signatures that follow high HbF patterns.

Results

KLF10 emerged as a top candidate. Moreover, genotype analysis of β-thalassemia major and intermedia patients and an independent cohort of β-thalassemia/SCD compound heterozygous patients that do or do not respond to HU treatment showed that the homozygous mutant state of a tagSNP in the KLF10 3'UTR is not present in β-thalassemia intermedia patients and is underrepresented in β-thalassemia/SCD compound heterozygous patients that respond well to HU treatment.

Conclusion

These data suggest that KLF10 may constitute a pharmacogenomic marker to discriminate between response and nonresponse to HU treatment."xsd:string
http://purl.uniprot.org/citations/23057549http://purl.org/dc/terms/identifier"doi:10.2217/pgs.12.125"xsd:string
http://purl.uniprot.org/citations/23057549http://purl.uniprot.org/core/author"Hou J."xsd:string
http://purl.uniprot.org/citations/23057549http://purl.uniprot.org/core/author"Lederer C."xsd:string
http://purl.uniprot.org/citations/23057549http://purl.uniprot.org/core/author"Georgitsi M."xsd:string
http://purl.uniprot.org/citations/23057549http://purl.uniprot.org/core/author"Philipsen S."xsd:string
http://purl.uniprot.org/citations/23057549http://purl.uniprot.org/core/author"Grosveld F.G."xsd:string
http://purl.uniprot.org/citations/23057549http://purl.uniprot.org/core/author"von Lindern M."xsd:string
http://purl.uniprot.org/citations/23057549http://purl.uniprot.org/core/author"Borg J."xsd:string
http://purl.uniprot.org/citations/23057549http://purl.uniprot.org/core/author"Felice A.E."xsd:string
http://purl.uniprot.org/citations/23057549http://purl.uniprot.org/core/author"Patrinos G.P."xsd:string
http://purl.uniprot.org/citations/23057549http://purl.uniprot.org/core/author"Ozgur Z."xsd:string
http://purl.uniprot.org/citations/23057549http://purl.uniprot.org/core/author"Phylactides M."xsd:string
http://purl.uniprot.org/citations/23057549http://purl.uniprot.org/core/author"van Ijcken W."xsd:string
http://purl.uniprot.org/citations/23057549http://purl.uniprot.org/core/author"Bartsakoulia M."xsd:string
http://purl.uniprot.org/citations/23057549http://purl.uniprot.org/core/author"Papachatzopoulou A."xsd:string
http://purl.uniprot.org/citations/23057549http://purl.uniprot.org/core/author"Kleanthous M."xsd:string
http://purl.uniprot.org/citations/23057549http://purl.uniprot.org/core/author"Stavrou E.F."xsd:string
http://purl.uniprot.org/citations/23057549http://purl.uniprot.org/core/author"Kourakli A."xsd:string
http://purl.uniprot.org/citations/23057549http://purl.uniprot.org/core/author"Christou S."xsd:string
http://purl.uniprot.org/citations/23057549http://purl.uniprot.org/core/author"Karkabouna S."xsd:string
http://purl.uniprot.org/citations/23057549http://purl.uniprot.org/core/author"Lappa-Manakou C."xsd:string
http://purl.uniprot.org/citations/23057549http://purl.uniprot.org/core/author"Tafrali C."xsd:string
http://purl.uniprot.org/citations/23057549http://purl.uniprot.org/core/date"2012"xsd:gYear
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