Background splicing as a predictor of aberrant splicing in genetic disease.
PMID:35188075
A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta.
PMID:34381850
Induction of cryptic pre-mRNA splice-switching by antisense oligonucleotides.
PMID:34302060
A Deep Intronic Variant Activates a Pseudoexon in the MTM1 Gene in a Family with X-Linked Myotubular Myopathy.
PMID:33505229
Transposon clusters as substrates for aberrant splice-site activation.
PMID:32965162
Systematics for types and effects of RNA variations.
PMID:32951567
ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping.
PMID:32284880
Detection of polymorphism within leptin gene in Egyptian river buffalo and predict its effects on different molecular levels.
PMID:32037476
The CYCLIN-DEPENDENT KINASE Module of the Mediator Complex Promotes Flowering and Reproductive Development in Pea.
PMID:31964799
The Scope for Thalassemia Gene Therapy by Disruption of Aberrant Regulatory Elements.
PMID:31766235
Activation of Cryptic 3' Splice-Sites by SRSF2 Contributes to Cassette Exon Skipping.
PMID:31295920
PUF60-activated exons uncover altered 3' splice-site selection by germline missense mutations in a single RRM.
PMID:29788428
Short-hairpin RNA against aberrant HBBIVSI-110(G>A) mRNA restores β-globin levels in a novel cell model and acts as mono- and combination therapy for β-thalassemia in primary hematopoietic stem cells.
PMID:29700171
ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.
PMID:29162642
A birth of bipartite exon by intragenic deletion.
PMID:28546999
Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.
PMID:26913838
Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.
PMID:26684006
In silico prediction of splice-altering single nucleotide variants in the human genome.
PMID:25416802
Separate introns gained within short and long soluble peridinin-chlorophyll a-protein genes during radiation of Symbiodinium (Dinophyceae) clade A and B lineages.
PMID:25330037
Optimal antisense target reducing INS intron 1 retention is adjacent to a parallel G quadruplex.
PMID:24944197
The missing puzzle piece: splicing mutations.
PMID:24294354
Review: Alternative Splicing (AS) of Genes As An Approach for Generating Protein Complexity.
PMID:24179441
Pre-mRNA splicing in disease and therapeutics.
PMID:22819011
Targeting branch sites of new exons?
PMID:22730556
Cryptic transcripts from a ubiquitous plasmid origin of replication confound tests for cis-regulatory function.
PMID:22618870
Clinical application of exome sequencing in undiagnosed genetic conditions.
PMID:22581936
SpliceDisease database: linking RNA splicing and disease.
PMID:22139928
Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.
PMID:21990165
Compensatory signals associated with the activation of human GC 5' splice sites.
PMID:21609956
Cryptic splice sites and split genes.
PMID:21470962