A variant Sp1 (R218Q) transcription factor might enhance HbF expression in β0-thalassaemia homozygotes

This publication has 10 references indexed in Scilit:

• Analysis of protein-coding genetic variation in 60,706 humans
  Nature, 2016
• The genetic basis of asymptomatic codon 8 frame-shift (HBB:c25_26delAA) β⁰-thalassaemia homozygotes
  British Journal of Haematology, 2016
• Genetic Modifiers in β-Thalassemia Intermedia: A Study on 102 Iraqi Arab Patients
  Genetic Testing and Molecular Biomarkers, 2015
• Sp1 and the ‘hallmarks of cancer’
  The FEBS Journal, 2015
• Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin
  Nature Genetics, 2010
• A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15
  Nature Genetics, 2007
• Methylation-enhanced binding of Sp1 to the stage selector element of the human gamma-globin gene promoter may regulate development specificity of expression.
  Molecular and Cellular Biology, 1993
• Interaction of Sp1 with the human gamma globin promoter: binding and transactivation of normal and mutant promoters
  Blood, 1991
• A naturally occurring gamma globin gene mutation enhances SP1 binding activity.
  Molecular and Cellular Biology, 1990
• Increased Sp1 binding mediates erythroid-specific overexpression of a mutated (HPFH) γ-globulin promoter
  Nucleic Acids Research, 1989