-
Subject Areas on Research
-
A circular trans-acting hepatitis delta virus ribozyme.
-
A common RNA recognition motif identified within a defined U1 RNA binding domain of the 70K U1 snRNP protein.
-
A compensatory base change in U1 snRNA suppresses a 5' splice site mutation.
-
A compensatory base change in human U2 snRNA can suppress a branch site mutation.
-
A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity.
-
A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations.
-
A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.
-
A lentiviral vector bearing a reverse intron demonstrates superior expression of both proteins and microRNAs.
-
A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb.
-
A novel species-specific RNA related to alternatively spliced amyloid precursor protein mRNAs.
-
A novel splice site mutation (156 + 1G-->A) in the TSC2 gene.
-
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.
-
A small circular TAR RNA decoy specifically inhibits Tat-activated HIV-1 transcription.
-
A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina).
-
A tumor-associated splice-isoform of MAP2K7 drives dedifferentiation in MBNL1-low cancers via JNK activation.
-
ALS-associated mutation FUS-R521C causes DNA damage and RNA splicing defects.
-
Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia.
-
Aberrant splicing of the TSG101 tumor suppressor gene in human breast and ovarian cancers.
-
Alternative RNA Splicing as a Potential Major Source of Untapped Molecular Targets in Precision Oncology and Cancer Disparities.
-
Alternative processing of androgen-binding protein RNA transcripts in fetal rat liver. Identification of a transcript formed by trans splicing.
-
An analysis of alternatively spliced CD45 mRNA transcripts during T cell maturation in humans.
-
Analysis of the stimulatory effect of splicing on mRNA production and utilization in mammalian cells.
-
Ankyrin regulation: an alternatively spliced segment of the regulatory domain functions as an intramolecular modulator.
-
Aptamer-mediated delivery of splice-switching oligonucleotides to the nuclei of cancer cells.
-
Assaying nuclear messenger RNA export in human cells.
-
Associations between RNA splicing regulatory variants of stemness-related genes and racial disparities in susceptibility to prostate cancer.
-
Associations between genetic variants in mRNA splicing-related genes and risk of lung cancer: a pathway-based analysis from published GWASs.
-
Beta-thalassemia resulting from a single nucleotide substitution in an acceptor splice site.
-
Binding of tenascin-C to soluble fibronectin and matrix fibrils.
-
Cell-type specific and combinatorial usage of diverse transcription factors revealed by genome-wide binding studies in multiple human cells.
-
Circular RNA circEsyt2 regulates vascular smooth muscle cell remodeling via splicing regulation.
-
Circular RNAs are abundant, conserved, and associated with ALU repeats.
-
Circularizing ribozymes and decoy-competitors by autocatalytic splicing in vitro and in vivo.
-
Cis-acting polymorphisms affect complex traits through modifications of microRNA regulation pathways.
-
Cloning and characterization of a novel endothelial promoter of the human CYP19 (aromatase P450) gene that is up-regulated in breast cancer tissue.
-
Cloning and structural analysis of the human c-kit gene.
-
Complete sequence of the Drosophila nonmuscle myosin heavy-chain transcript: conserved sequences in the myosin tail and differential splicing in the 5' untranslated sequence.
-
Complex structure and regulation of the ABP/SHBG gene.
-
Connecting genetic risk to disease end points through the human blood plasma proteome.
-
Connections between the processing and nuclear export of mRNA: evidence for an export license?
-
Contribution of proteasome-catalyzed peptide cis-splicing to viral targeting by CD8+ T cells in HIV-1 infection.
-
Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency.
-
Correction of aberrant splicing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by antisense oligonucleotides.
-
Correction of dystrophin expression in cells from Duchenne muscular dystrophy patients through genomic excision of exon 51 by zinc finger nucleases.
-
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
-
Differential expression of the alternatively spliced OPRM1 isoform μ-opioid receptor-1K in HIV-infected individuals.
-
Direct RNA sequencing reveals m6A modifications on adenovirus RNA are necessary for efficient splicing.
-
Diverse hypermutability of multiple expressed sequence motifs present in a cancer with microsatellite instability.
-
Diversity of ankyrins in the brain.
-
Driving factors in amiloride recognition of HIV RNA targets.
-
Enhancing RNA repair efficiency by combining trans-splicing ribozymes that recognize different accessible sites on a target RNA.
-
Epitranscriptomic Addition of m5C to HIV-1 Transcripts Regulates Viral Gene Expression.
-
Epitranscriptomic addition of m6A regulates HIV-1 RNA stability and alternative splicing.
-
Evaluating group I intron catalytic efficiency in mammalian cells.
-
Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.
-
Exon circularization in mammalian nuclear extracts.
-
Exon junction complexes mediate the enhancing effect of splicing on mRNA expression.
-
Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe immunodeficiency.
-
Expanding the functional repertoire of CTD kinase I and RNA polymerase II: novel phosphoCTD-associating proteins in the yeast proteome.
-
Expansion of the human mu-opioid receptor gene architecture: novel functional variants.
-
Expression of alternatively spliced human T-lymphotropic virus type I pX mRNA in infected cell lines and in primary uncultured cells from patients with adult T-cell leukemia/lymphoma and healthy carriers.
-
Expression of linear and novel circular forms of an INK4/ARF-associated non-coding RNA correlates with atherosclerosis risk.
-
FHIT and FRA3B 3p14.2 allele loss are common in lung cancer and preneoplastic bronchial lesions and are associated with cancer-related FHIT cDNA splicing aberrations.
-
Fetal antisense oligonucleotide therapy for congenital deafness and vestibular dysfunction.
-
Focal adhesion integrity is downregulated by the alternatively spliced domain of human tenascin.
-
Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site.
-
Generation and characterization of circular Bacillus subtilis RNase P RNA; activation by RNase P protein.
-
Generation of nuclease resistant circular RNA decoys for HIV-Tat and HIV-Rev by autocatalytic splicing.
-
Generation of nuclease resistant circular RNA decoys for HIV-Tat and HIV-Rev by autocatalytic splicing.
-
Genome-wide mutational signatures of aristolochic acid and its application as a screening tool.
-
Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.
-
Global impact of RNA splicing on transcriptome remodeling in the heart.
-
Group I intron self-splicing with adenosine: evidence for a single nucleoside-binding site.
-
Group I permuted intron-exon (PIE) sequences self-splice to produce circular exons.
-
Group VIA Phospholipase A2 (iPLA2β) Modulates Bcl-x 5'-Splice Site Selection and Suppresses Anti-apoptotic Bcl-x(L) in β-Cells.
-
Group-I intron family in the nuclear ribosomal RNA small subunit genes of Cenococcum geophilum isolates.
-
HIV-1 Rev promotes the nuclear export of unspliced and singly spliced RNAs in a mammalian cell-free export system.
-
Haploinsufficiency for Core Exon Junction Complex Components Disrupts Embryonic Neurogenesis and Causes p53-Mediated Microcephaly.
-
High-throughput interpretation of gene structure changes in human and nonhuman resequencing data, using ACE.
-
Homozygous Splice ADA2 Gene Mutation Causing ADA-2 Deficiency.
-
Human Epistatic Interaction Controls IL7R Splicing and Increases Multiple Sclerosis Risk.
-
Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.
-
Identification of MAVS splicing variants that interfere with RIGI/MAVS pathway signaling.
-
Identification of human short introns.
-
Impaired expression and functional activity of the beta 3- and beta 1-adrenergic receptors in adipose tissue of congenitally obese (C57BL/6J ob/ob) mice.
-
Improved transcript isoform discovery using ORF graphs.
-
In vivo RNA editing of point mutations via RNA-guided adenosine deaminases.
-
Inducing circular RNA formation using the CRISPR endoribonuclease Csy4.
-
Influenza A virus segments five and six can harbor artificial introns allowing expanded coding capacity.
-
Inhibitory effects of vesicular stomatitis virus on cellular and influenza viral RNA metabolism and protein synthesis.
-
Isolation and characterization of cDNAs encoding human brain ankyrins reveal a family of alternatively spliced genes.
-
Isolation of retinal proteins that interact with retinitis pigmentosa GTPase regulator by interaction trap screen in yeast.
-
Kinetics of expression of multiply spliced RNA in early human immunodeficiency virus type 1 infection of lymphocytes and monocytes.
-
Mechanisms coordinating ELAV/Hu mRNA regulons.
-
Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error.
-
Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency.
-
Mutation of Rubie, a novel long non-coding RNA located upstream of Bmp4, causes vestibular malformation in mice.
-
Mutational definition of the human immunodeficiency virus type 1 Rev activation domain.
-
Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia.
-
Mutations in the TSGA14 gene in families with autism spectrum disorders.
-
New techniques for DNA sequence classification.
-
Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa.
-
Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.
-
Nuclear export of late HIV-1 mRNAs occurs via a cellular protein export pathway.
-
One binding site determines sequence specificity of Tetrahymena pre-rRNA self-splicing, trans-splicing, and RNA enzyme activity.
-
Overexpression of the arginine-rich carboxy-terminal region of U1 snRNP 70K inhibits both splicing and nucleocytoplasmic transport of mRNA.
-
Pan-cancer analysis of whole genomes.
-
Partial correction of endogenous DeltaF508 CFTR in human cystic fibrosis airway epithelia by spliceosome-mediated RNA trans-splicing.
-
Phylogenetic analyses suggest reverse splicing spread of group I introns in fungal ribosomal DNA.
-
Physiologically regulated alternative splicing patterns of fast troponin T RNA are conserved in mammals.
-
Positive patches and negative noodles: linking RNA processing to transcription?
-
Predicted group II intron lineages E and F comprise catalytically active ribozymes.
-
Predicting gene structure changes resulting from genetic variants via exon definition features.
-
Probing the interplay between the two steps of group I intron splicing: competition of exogenous guanosine with omega G.
-
Protein isoforms encoded by the pX region of human T-cell leukemia/lymphotropic virus type I.
-
Quantitative measurement of alternatively spliced amyloid precursor protein mRNA expression in Alzheimer's disease and normal brain by S1 nuclease protection analysis.
-
RBFox1-mediated RNA splicing regulates cardiac hypertrophy and heart failure.
-
RBM45 is an m6A-binding protein that affects neuronal differentiation and the splicing of a subset of mRNAs.
-
RNA Splicing of the BHC80 Gene Contributes to Neuroendocrine Prostate Cancer Progression.
-
RNA as an RNA polymerase: net elongation of an RNA primer catalyzed by the Tetrahymena ribozyme.
-
RNA regulons: coordination of post-transcriptional events.
-
RNA splicing and aggregate gene expression differences in lung squamous cell carcinoma between patients of West African and European ancestry.
-
Regulation of alternative splicing of NMDAR1 in the kindling model.
-
Retroviruses as model systems for the study of nuclear RNA export pathways.
-
Rev activates expression of the human immunodeficiency virus type 1 vif and vpr gene products.
-
Revising messages traveling along the cellular information superhighway.
-
Ribonucleoprotein infrastructure regulating the flow of genetic information between the genome and the proteome.
-
Ribozyme-mediated repair of RNAs encoding mutant tumor suppressors.
-
Ribozyme-mediated repair of defective mRNA by targeted, trans-splicing.
-
Ribozyme-mediated repair of sickle beta-globin mRNAs in erythrocyte precursors.
-
Role of the angiotensin type 2 receptor gene in congenital anomalies of the kidney and urinary tract, CAKUT, of mice and men.
-
Sec63 and Xbp1 regulate IRE1α activity and polycystic disease severity.
-
Secretion of HLA-A and -B antigens via an alternative RNA splicing pathway.
-
Selection of circularization sites in a group I IVS RNA requires multiple alignments of an internal template-like sequence.
-
Signaling activities of the Drosophila wingless gene are separately mutable and appear to be transduced at the cell surface.
-
Single-nucleotide polymorphisms of stemness genes predicted to regulate RNA splicing, microRNA and oncogenic signaling are associated with prostate cancer survival.
-
Sites of circularization of the Tetrahymena rRNA IVS are determined by sequence and influenced by position and secondary structure.
-
Somatic Mutational Landscape of Splicing Factor Genes and Their Functional Consequences across 33 Cancer Types.
-
Specific binding of the human T-cell leukemia virus type I Rex protein to a short RNA sequence located within the Rex-response element.
-
Spliceosomal immunophilins.
-
Structural and functional analysis of the avian leukemia virus constitutive transport element.
-
Structure of the eukaryotic transcription apparatus: features of the gene for the largest subunit of Drosophila RNA polymerase II.
-
Structure-function analyses of the HTLV-I Rex and HIV-1 Rev RNA response elements: insights into the mechanism of Rex and Rev action.
-
Structures involved in Tetrahymena rRNA self-splicing and RNA enzyme activity.
-
Tagging ribozyme reaction sites to follow trans-splicing in mammalian cells.
-
Tat-SF1 is not required for Tat transactivation but does regulate the relative levels of unspliced and spliced HIV-1 RNAs.
-
The HDAC inhibitor SB939 overcomes resistance to BCR-ABL kinase Inhibitors conferred by the BIM deletion polymorphism in chronic myeloid leukemia.
-
The Long Noncoding RNA NEAT1 Promotes Sarcoma Metastasis by Regulating RNA Splicing Pathways.
-
The Tetrahymena ribozyme acts like an RNA restriction endonuclease.
-
The conserved dinucleotide AG of the 3' splice site may be recognized twice during in vitro splicing of mammalian mRNA precursors.
-
The human gene for mannan-binding lectin-associated serine protease-2 (MASP-2), the effector component of the lectin route of complement activation, is part of a tightly linked gene cluster on chromosome 1p36.2-3.
-
The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10 kb C-->T mutation.
-
The natural 5' splice site of simian virus 40 large T antigen can be improved by increasing the base complementarity to U1 RNA.
-
The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.
-
The spectrin skeleton: from red cells to brain.
-
The splicing factor, Prp40, binds the phosphorylated carboxyl-terminal domain of RNA polymerase II.
-
The tau N279K exon 10 splicing mutation recapitulates frontotemporal dementia and parkinsonism linked to chromosome 17 tauopathy in a mouse model.
-
Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA.
-
Tissue-specific genetic control of splicing: implications for the study of complex traits.
-
Trans-splicing reactions by ribozymes.
-
Transcriptome complexity in cardiac development and diseases--an expanding universe between genome and phenome.
-
Two Ck1δ transcripts regulated by m6A methylation code for two antagonistic kinases in the control of the circadian clock.
-
UACUAAC is the preferred branch site for mammalian mRNA splicing.
-
Unusual RNA splicing generates a secreted form of HLA-A2 in a mutagenized B lymphoblastoid cell line.
-
Widespread occurrence of spliceosomal introns in the rDNA genes of ascomycetes.
-
Keywords of People
-
Bennett, Vann,
George Barth Geller Distinguished Professor of Molecular Biology,
Duke Cancer Institute
-
Berchuck, Andrew,
James M. Ingram Distinguished Professor of Gynecologic Oncology,
Obstetrics and Gynecology, Gynecologic Oncology
-
Buckley, Rebecca Hatcher,
Professor Emeritus of Pediatrics,
Pediatrics, Allergy and Immunology
-
Erickson, Harold Paul,
Professor Emeritus of Cell Biology,
Cell Biology
-
Krangel, Michael S.,
George Barth Geller Distinguished Professor of Immunology,
Immunology
-
Shinohara, Mari L.,
Associate Professor of Immunology,
Cell Biology