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3,768 Possible Causes for splicing

  • Osteoporosis

    Sanger sequencing showed 41bp deletion in splice region following exon 1 of WNT1 gene in homozygous state.[]

  • Adrenal Insufficiency

    WES identified compound heterozygous variants in CYP11A1 including a novel canonical splice site variant (c.425 1G A) and a previously reported p.E314K variant, which were[] In vitro studies confirmed that this variant led to decreased efficiency of CYP11A1 splicing.[]

  • Dementia

    […] found an explanation: spontaneous ... read more Early Changes to Synapse Gene Regulation May Cause Alzheimer's Disease Oct. 12, 2018 — New research has revealed a role for splicing[]

  • Viral Lower Respiratory Infection

    The Sashimi plots illustrate the genotype-dependent abundance of splice junctions.[] The final set of variants included 2,793 stop-gained single-nucleotide variants (SNVs), 297 splice-site SNVs, and 951 frame-shift indels.[] We identified two additional rare LoF variants in IFIH1 , present in heterozygous form in a total of four study participants ( Fig. 1 A ): the splicing variant rs35337543[]

  • Troglitazone

    Similarly, in MDA-MB-231 cells, overexpression of ATF3, splicing of XBP1, and accumulation of BiP and CHOP were observed following Δ2-TGZ treatment.[] […] endoplasmic reticulum kinase-like endoplasmic reticulum kinase (PERK) and its target eIF2α after 1.5 h, rapid increase in activating transcription factor (ATF) 3 mRNA levels, splicing[]

  • Cancer-Associated Retinopathy

    There are four splicing variants in PTBLP.[]

  • Wagner Disease

    […] deletion in splice variant V0.[] This effect is faintly visible for splice variant V1. F igure 5. RT-PCR results for the V0 and V1 CSPG2 / Versican splice variants in patients with Wagner disease.[] We report the extensive genetic analysis of two Wagner probands, previously found negative for disease-associated splice mutations.[]

  • Yellow Fever Virus

    This study shows for the first time that the yellow fever virus (YFV) NS5 protein is able to interact with U1A, a protein involved in splicing and polyadenylation.[]

  • Cochliomyia Hominivorax

    In our model, the male splice site is utilized as this is preferred by the splicing machinery.[] The male and female transcripts arise from alternative splicing, differing in which splice donor site is used to join with the intron 1 splice acceptor site ( Figure 2 ).[] A TRA/TRA2/RBP1 complex is suggested to bind to the conserved motif ( Figure 4B ) near the 3′ splice acceptor site and enhance splicing with the female splice donor site.[]

  • Ossification of the Posterior Longitudinal Ligament of the Spine

    The intron 6 (-4A) allele resulted in skipping exon 6 and retaining exon 7, while the exon 6 ( 28A) allele was not associated with alteration in mRNA splicing.[] ., a deletion of T at a position 11 nucleotides upstream from the splice acceptor site of intron 20 (IVS20-11delT), with OPLL; the proportion of the individuals having this[] The functional impact of the polymorphisms was analyzed by comparing the differences in messenger RNA (mRNA) splicing by reverse-transcription polymerase chain reaction (RT-PCR[]

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