Although often located at a distance from their target gene promoters, enhancers are the
primary genomic determinants of temporal and spatial transcriptional specificity in …

Thalassemia syndromes are among the commonest monogenic disorders and represent a
substantial health burden worldwide. Here the authors have described globin genes …

Most genome editing analyses to date are based on quantifying small insertions and
deletions. Here, we show that CRISPR-Cas9 genome editing can induce large gene …

The fetal-to-adult switch in hemoglobin production is a model of developmental gene control
with relevance to the treatment of hemoglobinopathies. The expression of transcription factor …

The primary antigenic and virulence determinant of the human malaria parasite Plasmodium
falciparum is a variant surface protein called PfEMP1. Different forms of PfEMP1 are …

Abstract β-Thalassemia (BT) is one of the most common genetic diseases worldwide and is
caused by mutations affecting β-globin production. The only curative treatment is allogenic …

The specificity of gene expression during development requires the insulation of regulatory
domains to avoid inappropriate enhancer-gene interactions. In vertebrates, this insulator …

Krüppel-like factor 1 (KLF1) plays a crucial role in erythropoiesis. In-depth studies conducted
on mice and humans have highlighted its importance in erythroid lineage commitment …

Genome editing (GE) is one of the most efficient and useful molecular approaches to correct
the effects of gene mutations in hereditary monogenetic diseases, including β-thalassemia …

Inborn errors of immunity (IEIs) are a group of inherited disorders caused by mutations in the
protein-coding genes involved in innate and/or adaptive immunity. Hematopoietic stem cell …