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A4/A5 3′ splice site cluster DDX17/HIV-1 splicing factors Alternative Splicing Amino Acid Motifs Cell Line Tumor Cells Cultured DEAD-box RNA Helicases Gene Expression Regulation Viral Gene Knockdown Techniques HIV Infections HIV-1 Humans Protein Binding Protein Interaction Domains and Motifs RNA Splice Sites

Acidaminococcus Alleles Bacterial Proteins Biopsy CRISPR-Associated Proteins Cell Culture Techniques Cell Line Cystic Fibrosis Cystic Fibrosis Transmembrane Conductance Regulator Endonucleases Gene Editing Humans Intestines Organoids Point Mutation RNA Splice Sites RNA Splicing

Adult Aged Alternative Splicing BRCA1 Protein Breast Neoplasms DNA Mutational Analysis Exons Female Gene Expression Regulation Neoplastic Humans Middle Aged Mutation Ovarian Neoplasms RNA Splice Sites RNA Splicing Tumor Suppressor Proteins

PALB2 loss-of-function variants confer high risk of developing breast cancer. Here we present a systematic functional analysis of PALB2 splice-site variants detected in approximately 113,000 women in the large-scale sequencing...

PALB2 VUS aberrant splicing Breast Cancer clinical interpretation functional assay minigene splicing susceptibility genes Alternative Splicing Biomarkers Tumor Breast Neoplasms Case-Control Studies Databases Genetic Exons Fanconi Anemia Complementation Group N Protein Female Humans MCF-7 Cells Protein Isoforms RNA Splice Sites

GTP Phosphohydrolases Humans Mitochondria Mutation Optic Atrophy Autosomal Dominant RNA Splice Sites

Algorithms Alternative Splicing Animals Caenorhabditis elegans Codon Nonsense Gene Expression Profiling Genome Helminth Genomics Mutation Oligonucleotide Array Sequence Analysis RNA Splice Sites RNA Messenger Sequence Analysis DNA Signal Transduction Transcription Genetic

Studies of spliceosomal interactions are challenging due to their dynamic nature. Here we used spliceosome iCLIP, which immunoprecipitates SmB along with small nuclear ribonucleoprotein particles and auxiliary RNA binding...

Cell Line Humans RNA Precursors RNA Splice Sites RNA Splicing RNA-Binding Proteins Ribonucleoproteins Small Nuclear Spliceosomes

5' Untranslated Regions Animals Clustered Regularly Interspaced Short Palindromic Repeats Drosophila Drosophila Proteins Exons Introns RNA Splice Sites Transcription Factors Transgenes

1-Alkyl-2-acetylglycerophosphocholine Esterase Apolipoprotein C-III Cohort Studies Consanguinity Coronary Disease Cytochrome P450 Family 2 DNA Mutational Analysis Dietary Fats Exome Fasting Female Gene Deletion Gene Frequency Genes Genetic Association Studies Homozygote Humans Interleukin-8 Male Middle Aged Myocardial Infarction neuregulins Pakistan Pedigree Phenotype Phosphoproteins Postprandial Period RNA Splice Sites Reverse Genetics Sodium-Hydrogen Antiporter Triglycerides

BACKGROUND: Sequential assembly of the human spliceosome on RNA transcripts regulates splicing across the human transcriptome. The core spliceosome component PRPF8 is essential for spliceosome assembly through its participation...

Alternative Splicing Exons Genome Humans Introns Mutation RNA Splice Sites RNA Messenger RNA-Binding Proteins Retinitis Pigmentosa Ribonucleoproteins Spliceosomes Transcriptome

BACKGROUND: The majority of introns in gene transcripts are found within the coding sequences (CDSs). A small but significant fraction of introns are also found to reside within the untranslated regions (5'UTRs and 3'UTRs) of...

3' Untranslated Regions 5' Untranslated Regions Arabidopsis Computational Biology Gene Expression Regulation Plant Gene Silencing Genomics Introns Peptide Elongation Factor 1 Plants Genetically Modified RNA Splice Sites Repressor Proteins Sequence Deletion