Alex Maas

In vivo deletion of a GWAS-identified Myb distal enhancer acts on Myb expression, globin switching, and clinical erythroid parameters in beta-thalassemia

The paper investigates the functional impact of a GWAS-identified Myb enhancer in beta-thalassemia by generating a knock-out mouse model and analyzing its effects on erythropoiesis and clinical parameters.

Chromosome Pairing Through Tensed DNA Tethers Model Revealed by BRCA2 Meiotic Domain Deletion

This paper investigates the role of BRCA2's meiotic domain in meiotic homologous recombination and proposes a model of chromosome pairing through tensed DNA tethers.

A cryptic BRCA2 repeated motif binds to HSF2BP oligomers with no impact on meiotic recombination

This paper identifies a cryptic BRCA2 repeated motif that binds to HSF2BP oligomers but does not affect meiotic recombination.

Inducible expression of human C9ORF72 36x G4C2 hexanucleotide repeats is sufficient to cause RAN translation and rapid muscular atrophy in mice

This paper introduces a new inducible mouse model expressing C9ORF72 G4C2 repeats that causes RAN translation and muscular atrophy, showing that early intervention can prevent but not reverse the phenotype.

The mouse Klf1 Nan variant impairs nuclear condensation and erythroid maturation

The paper investigates the effects of the Klf1 Nan variant on erythroid maturation, finding that it causes nuclear condensation defects and deregulates Xpo7 expression.