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Article

Regulation of a strong F9 cryptic 5'ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides.

Human molecular genetics - 1 Sept 2015

Balestra Dario, Barbon Elena, Scalet Daniela, Cavallari Nicola, Perrone Daniela, Zanibellato Silvia, Bernardi Francesco, Pinotti Mirko

Abstract excerpt

Mutations affecting specific splicing regulatory elements offer suitable models to better understand their interplay and to devise therapeutic strategies. Here we characterize a meaningful splicing model in which numerous Hemophilia B-causing mutations, either missense or at the donor splice site (5'ss) of coagulation F9 exon 2, promote aberrant splicing by inducing the usage of a strong exonic cryptic 5'ss....

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Share to Alternative Splicing
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Factor IX

Share to Introns

Share to Oligonucleotides, Antisense

Share to RNA, Small Nuclear

Share to RNA Splice Sites

Share to Silencer Elements, Transcriptional

Source

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Identifiers

PMID: 26063760
DOI: 10.1093/hmg/ddv205
PMCID: PMC4527485

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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