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PABPN1Poly A Binding Protein Nuclear 1
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The program utilises an adeno-associated viral vector gene therapy to silence the mutant poly-A binding protein N1 (PABPN1) gene, which causes OPMD and replace it with a functional copy of the PABPN1 gene.
Hence, IBMPFD was excluded.[sup][12] OPMD mainly manifested by limb weakness and oculopharyngeal muscle weakness caused by abnormal (GCG) n expansions of the first exon in PABPN1 gene.[sup][13],[14] The disease onset of OPMD is usually more than 50-year-old and the disease seldom manifests deafness or visual impairment.
2, cycle sequencing of exon 1 of the PABPN1 gene of the three patients (III:14, III: 17 and III: 18) from whom blood samples were available revealed that they were heterozygous for a [(GCG).sub.11][(GCA).sub.3]GCG or [(GCN).sub.15] mutant allele.
From genes that are downregulated in female and upregulated in male sfx mice, we found 13 genes (Akt2, Sdc4, Myf6, Pabpn1, Itgb5, Tnnt2, MAP1, Pfn1, Tsix, Xist, Srebf1, Arf5, and Hdgf) that are connected to collagen synthesis.