Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of feta...
Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin
About this item
Full title
Author / Creator
Borg, Joseph , Papadopoulos, Petros , Georgitsi, Marianthi , Gutiérrez, Laura , Grech, Godfrey , Fanis, Pavlos , Phylactides, Marios , Verkerk, Annemieke J M H , van der Spek, Peter J , Scerri, Christian A , Cassar, Wilhelmina , Galdies, Ruth , van IJcken, Wilfred , Özgür, Zeliha , Gillemans, Nynke , Hou, Jun , Bugeja, Marisa , Grosveld, Frank G , von Lindern, Marieke , Felice, Alex E , Patrinos, George P and Philipsen, Sjaak
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Sjaak Philipsen and colleagues report that haploinsufficiency for KLF1 causes hereditary persistence of fetal hemoglobin in a large Maltese family. They further show that KLF1 is a key activator of BCL11A, which suppresses the expression of fetal hemoglobin.
Hereditary persistence of fetal hemoglobin (HPFH) is characterized by persistent high le...
Alternative Titles
Full title
Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin
Authors, Artists and Contributors
Author / Creator
Papadopoulos, Petros
Georgitsi, Marianthi
Gutiérrez, Laura
Grech, Godfrey
Fanis, Pavlos
Phylactides, Marios
Verkerk, Annemieke J M H
van der Spek, Peter J
Scerri, Christian A
Cassar, Wilhelmina
Galdies, Ruth
van IJcken, Wilfred
Özgür, Zeliha
Gillemans, Nynke
Hou, Jun
Bugeja, Marisa
Grosveld, Frank G
von Lindern, Marieke
Felice, Alex E
Patrinos, George P
Philipsen, Sjaak
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2930131
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2930131
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.630
