Transcriptome-wide splicing network reveals specialized regulatory functions of the core spliceosome

ME Rogalska, E Mancini, S Bonnal, A Gohr… - Science, 2024 - science.org
The spliceosome is the complex molecular machinery that sequentially assembles on
eukaryotic messenger RNA precursors to remove introns (pre-mRNA splicing), a …

PRMT1 inhibition perturbs RNA metabolism and induces DNA damage in clear cell renal cell carcinoma

J Walton, ASN Ng, K Arevalo, A Apostoli… - Nature …, 2024 - nature.com
In addition to the ubiquitous loss of the VHL gene in clear cell renal cell carcinoma (ccRCC),
co-deletions of chromatin-regulating genes are common drivers of tumorigenesis …

The Rbfox1/LASR complex controls alternative pre-mRNA splicing by recognition of multipart RNA regulatory modules

P Peyda, CH Lin, K Onwuzurike… - Genes & …, 2025 - genesdev.cshlp.org
The Rbfox proteins regulate alternative pre-mRNA splicing by binding to the RNA element
GCAUG. In the nucleus, most of Rbfox is bound to the large assembly of splicing regulators …

Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach

C Jaramillo Oquendo, HA Wai, WI Rich, DJ Bunyan… - Genome Medicine, 2024 - Springer
Background RNA sequencing (RNA-seq) is increasingly being used as a complementary
tool to DNA sequencing in diagnostics where DNA analysis has been uninformative. RNA …

Loss-of-function mutation in PRMT9 causes abnormal synapse development by dysregulation of RNA alternative splicing

L Shen, X Ma, Y Wang, Z Wang, Y Zhang… - Nature …, 2024 - nature.com
Abstract Protein arginine methyltransferase 9 (PRMT9) is a recently identified member of the
PRMT family, yet its biological function remains largely unknown. Here, by characterizing an …

PerturbAtlas: a comprehensive atlas of public genetic perturbation bulk RNA-seq datasets

Y Zhang, T Zhang, G Yang, Z Pan, M Tang… - Nucleic Acids …, 2025 - academic.oup.com
Manipulating gene expression is crucial for understanding gene function, with high-
throughput sequencing techniques such as RNA-seq elucidating the downstream …

junctionCounts: comprehensive alternative splicing analysis and prediction of isoform-level impacts to the coding sequence

AJ Ritter, A Wallace, N Ronaghi… - NAR Genomics and …, 2024 - academic.oup.com
Alternative splicing (AS) is emerging as an important regulatory process for complex
biological processes. Transcriptomic studies therefore commonly involve the identification …

[HTML][HTML] Alternative splicing dysregulation across tissue and therapeutic approaches in a mouse model of myotonic dystrophy type 1

SM Hicks, JA Frias, SK Mishra, M Scotti… - … Therapy Nucleic Acids, 2024 - cell.com
Myotonic dystrophy type 1 (DM1), the leading cause of adult-onset muscular dystrophy, is
caused by a CTG repeat expansion. Expression of the repeat causes widespread alternative …

Full-length transcriptome atlas of gallbladder cancer reveals trastuzumab resistance conferred by ERBB2 alternative splicing

Z Wang, L Gao, Z Jia, L Liu, A Gu, Z Liu, Q Zhu… - … and Targeted Therapy, 2025 - nature.com
Aberrant RNA alternative splicing in cancer generates varied novel isoforms and protein
variants that facilitate cancer progression. Here, we employed the advanced long-read full …

Comparative transcriptomics identifies genes underlying growth performance of the Pacific black-lipped pearl oyster Pinctada margaritifera

Y Dorant, V Quillien, J Le Luyer, CL Ky - BMC genomics, 2024 - Springer
Background In bivalves, the rate at which organisms grow is a major functional trait
underlying many aspects of their commercial production. Growth is a highly polygenic trait …