Genetic changes are a significant cause of infertility, impacting over 15% of the global population. TLE6, a major protein ...

New study reveals that TLE6 protein deficiency causes male infertility in mice. These findings suggest potential genetic ...

Mutations in humans cause type 3 haemochromatosis and a targeted mutation in mice leads to iron overload with a similar phenotype. We have previously described the generation of a complete ...

The mouse model closely mimics the specific dysferlin mutation and resulting disease, and enabled the researchers to evaluate how the complete therapy works—taking muscle stem cells, correcting ...

Bietti crystalline dystrophy (BCD) is a rare inherited retinal disease primarily caused by mutations in the CYP4V2 ... and improve vision in Cyp4v3 knockout mice. This therapy not only enhanced ...

Researchers explored the role of the TLE6 protein in male fertility using a novel mouse model. TLE6 deficiency caused significant reductions in sperm count and motility and led to abnormal sperm ...

This model, harboring a single-nucleotide mutation, results in a catalytically ... analysis with the existing Setd2 knockout model. The Setd2-CD mice displayed comparable embryonic lethality ...

It’s essentially been unknown.” Introducing individual mutations to mtDNA is challenging due to the large number of mitochondria within each cell. Instead, the researchers used a leukemia mouse model ...

This fundamental work presents two clinically relevant BMP4 mutations that contribute to vertebrate development. The convincing evidence supports that the site-specific cleavage at the BMP4 pro-domain ...