Nuclear Aurora kinase A switches m6A reader YTHDC1 to enhance an oncogenic RNA splicing of tumor suppressor RBM4.
PMID:35361747
A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability.
PMID:35216386
Novel Mutations of TSPY1 Gene Associate Spermatogenic Failure Among Men.
PMID:35041134
Novel variations in spermatogenic transcription regulators RFX2 and TAF7 increase risk of azoospermia.
PMID:34762273
Ral GEF with the PH Domain and SH3 Binding Motif 1 Regulated by Splicing Factor Junction Plakoglobin and Pyrimidine Metabolism Are Prognostic in Uterine Carcinosarcoma.
PMID:34745385
Functional Characteristics and Regulated Expression of Alternatively Spliced Tissue Factor: An Update.
PMID:34572880
What's Wrong in a Jump? Prediction and Validation of Splice Site Variants.
PMID:34564308
Identification of prognostic and bone metastatic alternative splicing signatures in bladder cancer.
PMID:34402716
IntSplice2: Prediction of the Splicing Effects of Intronic Single-Nucleotide Variants Using LightGBM Modeling.
PMID:34349788
Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function.
PMID:34242570
Identification of prognostic and bone metastasis-related alternative splicing signatures in mesothelioma.
PMID:34041868
Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations.
PMID:33895329
Proof-of-Concept: Antisense Oligonucleotide Mediated Skipping of Fibrillin-1 Exon 52.
PMID:33801742
A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome.
PMID:33664273
Identification of prognostic alternative splicing signatures in uveal melanoma.
PMID:33479809
Comprehensive Analysis of Alternative Splicing Signature in Gastric Cancer Prognosis Based on The Cancer Genome Atlas (TCGA) and SpliceSeq Databases.
PMID:33219199
Splicing Characteristics of Dystrophin Pseudoexons and Identification of a Novel Pathogenic Intronic Variant in the DMD Gene.
PMID:33050418
Transcriptome-wide analysis and modelling of prognostic alternative splicing signatures in invasive breast cancer: a prospective clinical study.
PMID:33020551
A Splice Intervention Therapy for Autosomal Recessive Juvenile Parkinson's Disease Arising from Parkin Mutations.
PMID:33019779
The Construction of Bone Metastasis-Specific Prognostic Model and Co-expressed Network of Alternative Splicing in Breast Cancer.
PMID:32984314
Alternative splicing reverses the cell-intrinsic and cell-extrinsic pro-oncogenic potentials of YAP1.
PMID:32763976
Identification of prognostic and metastasis-related alternative splicing signatures in hepatocellular carcinoma.
PMID:32627826
Splice modulating antisense oligonucleotides restore some acid-alpha-glucosidase activity in cells derived from patients with late-onset Pompe disease.
PMID:32317649
Proteomics-Based Characterization of miR-574-5p Decoy to CUGBP1 Suggests Specificity for mPGES-1 Regulation in Human Lung Cancer Cells.
PMID:32231562
Germ Cell-Specific Gene 1-Like Protein Regulated by Splicing Factor CUGBP Elav-Like Family Member 5 and Primary Bile Acid Biosynthesis are Prognostic in Glioblastoma Multiforme.
PMID:32117422
De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.
PMID:31941532
Transcriptome analysis reveals significant differences between primary plasma cell leukemia and multiple myeloma even when sharing a similar genetic background.
PMID:31748515
Identification of Prognostic and Metastatic Alternative Splicing Signatures in Kidney Renal Clear Cell Carcinoma.
PMID:31681747
Reduction of integrin alpha 4 activity through splice modulating antisense oligonucleotides.
PMID:31506448
Emerging Biomarkers in Bladder Cancer Identified by Network Analysis of Transcriptomic Data.
PMID:30370253
Alternative Splicing of FOXP3-Virtue and Vice.
PMID:29593749
An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer's disease.
PMID:29589097
Human NDE1 splicing and mammalian brain development.
PMID:28266585
How is Herstatin, a tumor suppressor splice variant of the oncogene HER2, regulated?
PMID:27935425
IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genome.
PMID:27009626
NPHS2 mutations account for only 15% of nephrotic syndrome cases.
PMID:26420286
Deciphering targeting rules of splicing modulator compounds: case of TG003.
PMID:26400733
Rectifier of aberrant mRNA splicing recovers tRNA modification in familial dysautonomia.
PMID:25675486
Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness.
PMID:25093588
A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy.
PMID:24871807
Identification of cis-acting elements and splicing factors involved in the regulation of BIM Pre-mRNA splicing.
PMID:24743263
Sporadic cerebral cavernous malformations: report of further mutations of CCM genes in 40 Italian patients.
PMID:24058906
RRP1B is a metastasis modifier that regulates the expression of alternative mRNA isoforms through interactions with SRSF1.
PMID:23604122
Global regulation of alternative splicing by adenosine deaminase acting on RNA (ADAR).
PMID:23474544
Multiple regulatory variants modulate expression of 5-hydroxytryptamine 2A receptors in human cortex.
PMID:23158458
SpliceAid-F: a database of human splicing factors and their RNA-binding sites.
PMID:23118479
Chemical treatment enhances skipping of a mutated exon in the dystrophin gene.
PMID:21556062
An intronic mutation in MLH1 associated with familial colon and breast cancer.
PMID:20717847
Computational identification of tissue-specific alternative splicing elements in mouse genes from RNA-Seq.
PMID:20685814
Fine-scale variation and genetic determinants of alternative splicing across individuals.
PMID:20011102