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 ...

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 ...

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 ...

A prevailing interest in biology is to understand how gene expression is regulated and specified during development. Simplified models, in which transcriptional outcome is determined solely by the ...

Please provide your email address to receive an email when new articles are posted on . An increase in alpha-globin gene copy number was associated with a greater prevalence of chronic kidney disease ...

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 ...

Ectopic recombination between repeated but nonallelic DNA sequences plays a major role in genome evolution, creating gene families and generating copy number variation and pathological rearrangements ...

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 ...

It has been an amazing year for patients with sickle cell disease (SCD) with two new drug approvals in recent weeks, and hopes are also building that bluebird bio’s LentiGlobin gene therapy could be ...

Globin-gene mutations are a rare but important cause of cyanosis. We identified a missense mutation in the fetal Gγ-globin gene (HBG2) in a father and daughter with transient neonatal cyanosis and ...