2 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutations in Pre-mRNA Processing Factors 3, 8, and 31 Cause Dysfunction of the Retinal Pigment Epithelium
    2
    1. ClingenBaseline 21 Oct 2026
      Figure 1

      NonPatientCell UBERON:0005424

      GOterm GO:0042802

      GeneAlteration shRNAs cloned into pCAG-mir30 vector that contained a puromycin resistance gene.

      FunctionalEvidence electron microscopy of RPE in 1-2 yo mice showed 37-48% reduced phagocytosis in mutants. (fig. 1) Assayed cryosection of mouse RPE showed mislocalization of adhesion/phagocytosis markers in RPE (fig. 4)

      FAVariants NM_004698.3(PRPF3):c.1481C>T (p.Thr494Met), 3352

      Experimental FunctionalAlteration NonPatientCells inferred_gene_hgnc:17348 inferred_gene_source:RefSeq UNC Biocuration Core
    2. ClingenBaseline 21 Oct 2026
      Figure 1

      NonPatientCell UBERON:0005424

      GOterm GO:0042802

      GeneAlteration shRNAs cloned into pCAG-mir30 vector that contained a puromycin resistance gene.

      FunctionalEvidence electron microscopy of RPE in 1-2 yo mice showed 37-48% reduced phagocytosis in mutants. (fig. 1) Assayed cryosection of mouse RPE showed mislocalization of adhesion/phagocytosis markers in RPE (fig. 4)

      FAVariants NM_004698.3(PRPF3):c.1481C>T (p.Thr494Met), 3352

      Experimental FunctionalAlteration NonPatientCells inferred_gene_hgnc:17348 inferred_gene_source:RefSeq UNC Biocuration Core
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4188860/