Publications by authors named "Annemarie Jonasson"
Article Synopsis
- Embryonic development relies on precise DNA processes, and mutations in repair genes can cause neurodevelopmental disorders with symptoms like microcephaly and short stature.
- Researchers identified genetic variants in SLF2 and SMC5 from the RAD18-SLF1/2-SMC5/6 pathway in patients with developmental issues, including abnormal chromosomes and anemia.
- The new disorder, named Atelís Syndrome, demonstrates heightened replication stress and difficulties with specific DNA structures, emphasizing the crucial role of the SLF2-SMC5/6 pathway in preserving genome stability.
