Erythroid phenotypes associated with KLF1 mutations

Borg, Joseph J.; Patrinos, George P.; Felice, Alex; Philipsen, Sjaak

Please use this identifier to cite or link to this item: https://www.um.edu.mt/library/oar/handle/123456789/28017

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DC Field	Value	Language
dc.contributor.author	Borg, Joseph J.	-
dc.contributor.author	Patrinos, George P.	-
dc.contributor.author	Felice, Alex	-
dc.contributor.author	Philipsen, Sjaak	-
dc.date.accessioned	2018-03-16T11:06:30Z	-
dc.date.available	2018-03-16T11:06:30Z	-
dc.date.issued	2011	-
dc.identifier.citation	Borg, J., Patrinos. G. P., Felice, A. E., & Philipsen, S. (2011). Erythroid phenotypes associated with KLF1 mutations. Haematologica, 96(5), 635-638.	en_GB
dc.identifier.uri	https://www.um.edu.mt/library/oar//handle/123456789/28017	-
dc.description	Acknowledgments: this work has been supported by institutional funding of the University of Malta, and the Malta Department of Health (AEF and JB), a fellowship of the Malta Government Scholarship Scheme (JB), European Commission grants(GEN2PHEN; FP7-200754 and ITHANET; FP6-026539) to GPP, and the Netherlands Genomics Initiative (NGI), Erasmus MC (MRace; 296088), the Landsteiner Foundation for Blood Transfusion Research (LSBR; 1040), and the Dutch organization for scientific research (NWO; DN 82-301 and 40-00812-98- 08032) to SP. We apologize to our colleagues whose work could not be cited due to space constraints.	en_GB
dc.description.abstract	Erythroid Kruppel-Like Factor (KLF1; previously known as EKLF) is an essential erythroid-specific transcription factor that was first identified by Miller and Bieker in 1993. 1 It binds the CACCC motif, an important DNA binding site in the regulatory elements of many erythroid genes including the HBB (β-globin) gene. Mutations in the β-globin CACC box which prevent KLF1 binding are a cause of β-thalassemia. 2 KLF1 has three zinc finger domains, which mediate sequence specific binding to DNA and are, therefore, essential for activation of KLF1 target genes (Figure 1).	en_GB
dc.language.iso	en	en_GB
dc.publisher	European Hematology Association	en_GB
dc.rights	info:eu-repo/semantics/openAccess	en_GB
dc.subject	Phenotype	en_GB
dc.subject	Beta-Thalassemia	en_GB
dc.title	Erythroid phenotypes associated with KLF1 mutations	en_GB
dc.type	article	en_GB
dc.rights.holder	The copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder.	en_GB
dc.description.reviewed	peer-reviewed	en_GB
dc.identifier.doi	10.3324/haematol.2011.043265	-
dc.publication.title	Haematologica	en_GB
Appears in Collections:	Scholarly Works - FacHScABS Scholarly Works - FacM&SPB

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