Author

M.-R. Schweiger

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Open access Oct 2026

HSAT3 lncRNA regulates replication re-initiation and colocalizes with TOP2A under stress conditions

Long non-coding RNAs transcribed from pericentromeric Satellite 3 repeats (HSAT3) are involved in stress-dependent splicing processes and maintenance of genome stability. The functions of the transcripts are largely unknown, which is mainly due to the predominant heterochromatic organization of satellite regions. HSAT3...

Julian Kanne, Felix Heß, Wei Min et al. · Epigenetics & Chromatin · 0 citations

Open access Aug 2026

Homozygous missense variants in CACNB4 underlie autosomal recessive epilepsy in two unrelated Pakistani consanguineous families.

This is the second report of autosomal recessive epilepsy associated with biallelic CACNB4 variants and genetic investigations play a crucial role in identifying mutation hotspots, facilitating more accurate diagnoses and enhancing the design of diagnostic panels for early detection.

Anwar Ullah, Fazl Ullah, Irfan Ullah et al. · Seizure · 0 citations