Property Summary

NCBI Gene PubMed Count 162
Grant Count 27
R01 Count 11
Funding $6,827,220.84
PubMed Score 219.45
PubTator Score 219.60

Knowledge Summary

Patent

No data available

Expression

Gene RIF (52)

PMID Text
26840243 results suggest that KLF1 directly regulates the beta-globin gene, but probably has less direct impact on expression of the gamma-globin gene in fetal erythroblasts
26686224 Data show that the ancestral allele C at rs2855126, located upstream of gamma-globin (HBG1) is associated with increased serum uric acid levels.
26575252 These data confirm the regulatory role of the HBG1: g.-225_-222 region that exerts its effect under conditions of erythropoietic stress characteristic for beta-thal patients.
26053062 a successful induction of gamma-globin includes a reduction in BCL11A, KLF1 and TAL1 expression.
25986606 Results indicate that compound II induces the gamma globin gene in hydroxyurea (HU)-resistant primary adult erythroid cells and suggest potenetial therapy for sickle cell disease (SCD) and severe beta-thalassemias.
25971621 analysis of a point mutation that increases fetal globin expression through de novo recruitment of the activator TAL1 to promote chromatin looping of distal enhancers to the modified gamma-globin promoter
25808664 Inactivation of HDAC1 or HDAC2 induces gamma-globin expression without altering cell cycle or proliferation.
25681747 Findings indicate that both antisickling beta-globin and gamma-globin lentiviral vectors demonstrate efficient gene transfer into sickle cells.
25565447 This report we discusses the molecular characteristics and diagnostic criteria of a new (A)gamma chain variant that was detected during newborn screening and named Hb F-Sykesville MD [(A)gamma113(G15)Val --> Ile; HBG1: c.340G>A].
24914133 Data indicate that hydroxyurea (HU) induces SAR1 protein expression, which in turn activates gamma-globin expression, predominantly through the Gialpha/JNK/Jun pathway.
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AA Sequence

MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLT      1 - 70
SLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTAVAS     71 - 140
ALSSRYH                                                                   141 - 147
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Text Mined References (169)

PMID Year Title
26840243 2016 Krüppel-Like Transcription Factor KLF1 Is Required for Optimal ?- and ?-Globin Expression in Human Fetal Erythroblasts.
26686224 2015 Evolutionary context for the association of ?-globin, serum uric acid, and hypertension in African Americans.
26575252 2016 Functional Analysis of an (A)?-Globin Gene Promoter Variant (HBG1: g.-225_-222delAGCA) Underlines Its Role in Increasing Fetal Hemoglobin Levels Under Erythropoietic Stress.
26053062 2015 Variation in Gamma-Globin Expression before and after Induction with Hydroxyurea Associated with BCL11A, KLF1 and TAL1.
25986606 2015 Pharmacological Induction of Human Fetal Globin Gene in Hydroxyurea-Resistant Primary Adult Erythroid Cells.
25971621 2015 Editing the genome to introduce a beneficial naturally occurring mutation associated with increased fetal globin.
25808664 2015 Inactivation of HDAC1 or HDAC2 induces gamma globin expression without altering cell cycle or proliferation.
25681747 2015 Potentially therapeutic levels of anti-sickling globin gene expression following lentivirus-mediated gene transfer in sickle cell disease bone marrow CD34+ cells.
25565447 2015 A new A?-globin chain variant: Hb F-Sykesville MD [A?113(G15)Val ? Ile; HBG1: c.340G>A] detected in a Caucasian baby.
24914133 2014 Hydroxyurea-inducible SAR1 gene acts through the Gi?/JNK/Jun pathway to regulate ?-globin expression.
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