| http://purl.uniprot.org/citations/32125788 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/32125788 | http://www.w3.org/2000/01/rdf-schema#comment | "BackgroundCongenital aniridia is a severe ocular abnormality characterized by incomplete formation of the iris and many other ocular complications. Most cases are caused by the paired box 6 (PAX6) gene mutations generating premature termination codons (PTCs).MethodsOphthalmic examination was performed on a Chinese pedigree with congenital aniridia. The mutation was identified by targeted next-generation sequencing. Nonsense suppression therapy was applied on patient-derived lymphocytes. The PAX6 expression was assayed by real-time polymerase chain reaction and Western blot.ResultsComplete aniridia was complicated with horizontal nystagmus, contract, foveal hypoplasia, and microphthalmia. A novel heterozygous c.702_703delinsAT (p.Tyr234*) mutation was found in exon 9 of PAX6, generating a PTC at the homeodomain. There were about 50% reductions of both full-length PAX6 protein and PAX6 mRNA in patient-derived lymphocytes, indicating haploinsufficiency due to nonsense-mediated mRNA decay. Ataluren (PTC124) and geneticin (G418) could induce about 30%-40% translational readthrough. Nonsense suppression therapy restored PAX6 protein to about 65%-70% of unaffected family controls.ConclusionOur data expanded the genetic and phenotypic variations of congenital aniridia, and showed the therapeutic effect of nonsense suppression on this disease using patient-derived cells."xsd:string |
| http://purl.uniprot.org/citations/32125788 | http://purl.org/dc/terms/identifier | "doi:10.1002/mgg3.1198"xsd:string |
| http://purl.uniprot.org/citations/32125788 | http://purl.uniprot.org/core/author | "Gao H."xsd:string |
| http://purl.uniprot.org/citations/32125788 | http://purl.uniprot.org/core/author | "Liu X."xsd:string |
| http://purl.uniprot.org/citations/32125788 | http://purl.uniprot.org/core/author | "Zhang Y."xsd:string |
| http://purl.uniprot.org/citations/32125788 | http://purl.uniprot.org/core/author | "Zhang B."xsd:string |
| http://purl.uniprot.org/citations/32125788 | http://purl.uniprot.org/core/author | "Qiu C."xsd:string |
| http://purl.uniprot.org/citations/32125788 | http://purl.uniprot.org/core/date | "2020"xsd:gYear |
| http://purl.uniprot.org/citations/32125788 | http://purl.uniprot.org/core/name | "Mol Genet Genomic Med"xsd:string |
| http://purl.uniprot.org/citations/32125788 | http://purl.uniprot.org/core/pages | "e1198"xsd:string |
| http://purl.uniprot.org/citations/32125788 | http://purl.uniprot.org/core/title | "Nonsense suppression induced readthrough of a novel PAX6 mutation in patient-derived cells of congenital aniridia."xsd:string |
| http://purl.uniprot.org/citations/32125788 | http://purl.uniprot.org/core/volume | "8"xsd:string |
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