Reactivating the silenced embryonic ζ-globin gene in mice and human cells can produce therapeutic levels of α-like globin, rescuing severe α-thalassemia conditions.
- Open access
Prenatal Screening and Diagnostics
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Fetal copy number variants are detected in 4.5% of low-risk pregnancies with non-structural ultrasound abnormalities, with variation across different ultrasound markers.
- Open access
A novel heterozygous frameshift RPL15 gene variant is linked to fetal hydrops, IUGR, and perinatal death in DBA12, with a significant reduction in RPL15 protein levels.
- Open access
De novo mitotic errors, including multipolar spindles and lagging chromosomes, occur frequently in late-stage preimplantation human embryos, with most lagging chromosomes passively inherited.
- Open access
- 12 cites
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