This study identifies ELOF1 as a critical factor enhancing promoter-proximal RNA polymerase II pausing, showing its role in counteracting TFIIF effects.

bioRxiv · May 28, 2026 · PreprintMolecular Biology

Deciphering the consequence of deep intronic variants: a progeroid syndrome caused by a TAPT1 mutation is revealed by combined RNA/SI-NET sequencing

Nasrinsadat Nabavizadeh, Annkatrin Bressin, Poh Hui Chia, Ricardo Moreno Traspas, Nathalie Escande‐Beillard, Carine Bonnard, Zohreh Hojati, Scott B. Drutman, Susanne Freier, Mohammad El-Khateeb, Rajaa Fathallah, Jean‐Laurent Casanova, Wesam Soror, Alaa Arafat, Mohammad Shboul, , Bruno Reversade

The paper identifies a deep intronic TAPT1 mutation causing progeroid syndrome using RNA-seq and homozygosity mapping, showing it leads to exon skipping and protein-null allele.

medRxiv · Jul 15, 2022 · PreprintGenetic & Genomic Medicine

TriPepSVM - de novo prediction of RNA-binding proteins based on short amino acid motifs

Annkatrin Bressin, Roman Schulte-Sasse, Davide Figini, Erika C. Urdaneta, Benedikt M. Beckmann, Annalisa Marsico

TriPepSVM predicts RNA-binding proteins using tripeptide frequencies, outperforming existing methods in human and bacterial species.

Nucleic Acids Research · Mar 18, 2019Peer-reviewedBioinformatics