The transient and specific formation of chromatin loops is known to juxtapose genes and their distant enhancers, thus enabling gene expression. The mechanistic relationship between looping and ...

Mandy Boontanrart, PhD, a postdoc at ETH Zurich in Switzerland, has a particularly personal motivation for her research on a novel genetic therapy for sickle cell disease (SCD). She is a carrier of a ...

To test the hypothesis that the folding pathways of evolutionarily related proteins with similar three-dimensional structures but widely different sequences should be similar, the folding pathway of ...

The blood protein hemoglobin and its relative, myoglobin, carry and store life-giving oxygen in many animals. Researchers long thought these complex proteins, with their unique fold, were the only two ...

DNA sequences located in a region 6-18 kilobases (kb) upstream from the human ε-globin gene are known as the locus-activating region (LAR) or dominant control region. This region is thought to play a ...

FIGURE 1. Distribution of different genotypes with α-globin gene triplication in 73,967 subjects. (A) Gender distribution. (B) The proportion of different genotypes among 1,443 α-globin gene ...

Sickle cell disease is characterized by the painful recurrence of vaso-occlusive events. Gene therapy with the use of LentiGlobin for sickle cell disease (bb1111; lovotibeglogene autotemcel) consists ...

The cloned chromosomal rabbit $\beta $-globin gene has been introduced into mouse fibroblasts by DNA-mediated gene transfer (transformation). In this report, we examine the expression of the rabbit ...

Sickle cell disease (SCD) is autosomal recessive disorder caused by mutations in the β-globin gene, and induction of fetal γ-globin is considered an established therapeutic strategy for the treatment ...

The evolution of biomedical science can be appreciated through studies of hemoglobin, the oxygen-carrying protein in red cells. Before molecular cloning, the geneticist Arno Motulsky noted, “Many ...

Thalassemia is a common genetic condition affecting red blood cells. Children with severe forms of thalassemia often develop symptoms early in life, but effective treatment can manage the condition.

People with the thalassemia trait, or thalassemia carriers, may not experience any symptoms. However, some thalassemia carriers can experience anemia symptoms, such as paleness and fatigue. In people ...