An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A
Author:
Funder
Bayer HealthCare
Publisher
Frontiers Media SA
Subject
Genetics (clinical),Genetics,Molecular Medicine
Reference28 articles.
1. An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects;Alanis;Hum. Mol. Genet.,2012
2. An engineered U1 small nuclear RNA rescues splicing-defective coagulation F7 gene expression in mice;Balestra;J. Thromb. Haemost.,2014
3. Regulation of a strong F9 cryptic 5’ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides;Balestra;Hum. Mol. Genet.,2015
4. An exon-specific U1snRNA induces a robust factor IX activity in mice expressing multiple human FIX splicing mutants;Balestra;Mol. Ther. - Nucleic Acids,2016
5. Molecular mechanisms and determinants of innovative correction approaches in coagulation factor deficiencies;Balestra;Int. J. Mol. Sci.,2019
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1. Pleiotropic effects of different exonic nucleotide changes at the same position contribute to hemophilia B phenotypic variation;Journal of Thrombosis and Haemostasis;2024-04
2. Development of Engineered-U1 snRNA Therapies: Current Status;International Journal of Molecular Sciences;2023-09-27
3. Effects of 14 F9 synonymous codon variants on hemophilia B expression: Alteration of splicing along with protein expression;Human Mutation;2022-04-19
4. OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies;Molecular Medicine;2021-12
5. Characterization of a Missense Mutation in the Catalytic Domain and a Splicing Mutation of Coagulation Factor X Compound Heterozygous in a Chinese Pedigree;Genes;2021-09-27
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