Aberrant splicing
Aberrant splicing and drug resistance in AML
... with aberrant splicing of the transcript primarily altering an extracellular region of this receptor ...producing aberrant FLT3 transcripts, even in the ab- sence of an inducing FLT3 ligand ...
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Whole transcriptome characterization of aberrant splicing events induced by lentiviral vector integrations
... analysis of chimeric LV-cellular fusion transcripts in transduced human lymphoblastoid cells and primary hematopoietic stem/progenitor cells. We observed a surprising abundance of read-through transcription originating ...
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Novel exonic mutation inducing aberrant splicing in the IL10RA gene and resulting in infantile-onset inflammatory bowel disease: a case report
... in aberrant splicing manifest as ...of splicing process ...the splicing variant of 18-base deletion at the 3' end of exon 4 was generated in our ...another splicing variant, exon 4 ...
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Safer, Silencing-Resistant Lentiviral Vectors: Optimization of the Ubiquitous Chromatin-Opening Element through Elimination of Aberrant Splicing
... Selected A2UCOE-based lentiviral vectors were tested in an inser- tional mutagenesis assay using IL-3-dependent Bcl-15 cells (Fig. 1 and Table 1) (4, 13). This assay selects mutants that grow in the culture medium ...
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Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alpha keto acid dehydrogenase complex due to aberrant splicing A single base deletion at a 5' splice donor site of an intron of the E2 gene disrupts the consensus sequence in this region
... Maple Syrup Urine Disease Caused by a Partial Deletion in the Inner E2 Core Domain of the Branched Chain a-Keto Acid Dehydrogenase Complex due to Aberrant Splicing A Single Base Deletion[r] ...
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Aberrant splicing and transcription termination caused by P element insertion into the intron of a Drosophila gene.
... Our results show that when the P [ lacZ, rosy+] element is located within an intron of a gene, specific sequences within the P element can direct aberrant splicing and trans[r] ...
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E2 transacylase deficient (type II) maple syrup urine disease Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine responsive phenotype
... of splicing errors by a novel mecha- nism. The majority of the splicing errors reported to date are associated with mutations in the 59 and 39-splice ...However, aberrant splicing caused by ...
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Carbamyl phosphate synthetase I deficiency One base substitution in an exon of the CPS I gene causes a 9 basepair deletion due to aberrant splicing
... Analysis of mRNA and genomic DNA from the patient suggested that the 9-bp deletion in the mRNA was the result of aberrant splicing due to point mutation in the consensus sequence of the [r] ...
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Aberrant Splicing and Altered Spatial Expression Patterns in fruitless Mutants of Drosophila melanogaster
... The fru locus spans at least 140 kb and produces a of these classes have been identified (Ryner et al. 1996). complex array of transcripts due to the use of four However, the potential transcript diversity may be more ...
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A naturally arising mutation of a potential silencer of exon splicing in human immunodeficiency virus type 1 induces dominant aberrant splicing and arrests virus production.
... In this paper, we report a potential new member of the family of HIV-1 exon splicing silencers. A naturally occurring point mutation in this ESS caused increases in usage of neigh- boring splice sites. The splice ...
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Aberrant splicing of the hRasGRP4 transcript and decreased levels of this signaling protein in the peripheral blood mononuclear cells in a subset of patients with rheumatoid arthritis
... How splicing of hRasGRP4 is controlled in monocytes remains to be determined in future ...native splicing of CD44 caused by its polymorphism have been implicated in rheumatoid arthritis ...alternative ...
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Aberrant splicing contributes to severe α spectrin–linked congenital hemolytic anemia
... vivo splicing analyses revealed the intron 30 variant changes a weak alternate branch point (BP) to a strong ...mRNA splicing and creating an elongated mRNA ...
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Mechanism of BRG1 silencing in primary cancers
... demonstrated aberrant splicing of BRG1, and in at least 30% of BRG1-deficient tumors, BRG1 expression appeared to be suppressed due to aberrant BRG1 ...or splicing defects that could drive ...
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HUTCHINSON-GILFORD PROGERIA SYNDROME: A PREMATURELY AGING DISORDER
... Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare genetic disorder characterized by premature aging, involving aberrant splicing of the LMNA gene, resulting in the production of a ...
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Lentiviral vector integration in the human genome induces alternative splicing and generates aberrant transcripts
... with splicing and polyadenylation of primary tran- ...transcript splicing, we transduced primary human cells or cultured cells with HIV-derived vectors carrying a reporter gene or a human β-globin gene ...
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The U2AF1S34F mutation induces lineage specific splicing alterations in myelodysplastic syndromes
... that splicing factor genes are the most commonly mutated genes found in MDS (5, 6) revealed a new leu- kemogenic pathway involving spliceosomal dysfunction in this ...with splicing factor 3b subunit 1 ...
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The Integrator subunits function in hematopoiesis by modulating Smad/BMP signaling
... to aberrant splicing of smad1 and smad5 RNA, and reduced expression of the hematopoietic genes stem cell leukemia (scl, also known as tal1) and ...RNA splicing and arrested hematopoiesis, suggesting ...
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Leukocytes from four patients with complete or partial Leu CAM deficiency contain the common beta subunit precursor and beta subunit messenger RNA
... to aberrant splicing of its mRNA and are consistent with a defective beta subunit gene resulting in abnormal posttranslational processing of the synthesized ...
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Therapeutic potential of antisense oligonucleotides as modulators of alternative splicing
... alternative splicing and respective inclusion or exclusion of exon 9, which codes for the transmembrane domain of the protein ...alternative splicing pathway of IL-5R was ...cause aberrant ...
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Two aberrant splicings caused by mutations in the insulin receptor gene in cultured lymphocytes from a patient with Rabson Mendenhall's syndrome
... Mutations in consensus sequences of introns are known to result in aberrant splicings. Such mutations cause exon skip- ping, activation of a cryptic site, creation of a pseudoexon within an intron, and intron ...
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