| http://purl.uniprot.org/citations/35743313 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/35743313 | http://www.w3.org/2000/01/rdf-schema#comment | "Certain combinations of common variants in exon 3 of OPN1LW and OPN1MW, the genes encoding the apo-protein of the long- and middle-wavelength sensitive cone photoreceptor visual pigments in humans, induce splicing defects and have been associated with dyschromatopsia and cone dysfunction syndromes. Here we report the identification of a novel exon 3 haplotype, G-C-G-A-T-T-G-G (referring to nucleotide variants at cDNA positions c.453, c.457, c.465, c.511, c.513, c.521, c.532, and c.538) deduced to encode a pigment with the amino acid residues L-I-V-V-A at positions p.153, p.171, p.174, p.178, and p.180, in OPN1LW or OPN1MW or both in a series of seven patients from four families with cone dysfunction. Applying minigene assays for all observed exon 3 haplotypes in the patients, we demonstrated that the novel exon 3 haplotype L-I-V-V-A induces a strong but incomplete splicing defect with 3-5% of residual correctly spliced transcripts. Minigene splicing outcomes were similar in HEK293 cells and the human retinoblastoma cell line WERI-Rb1, the latter retaining a cone photoreceptor expression profile including endogenous OPN1LW and OPN1MW gene expression. Patients carrying the novel L-I-V-V-A haplotype presented with a mild form of Blue Cone Monochromacy or Bornholm Eye Disease-like phenotype with reduced visual acuity, reduced cone electroretinography responses, red-green color vision defects, and frequently with severe myopia."xsd:string |
| http://purl.uniprot.org/citations/35743313 | http://purl.org/dc/terms/identifier | "doi:10.3390/ijms23126868"xsd:string |
| http://purl.uniprot.org/citations/35743313 | http://purl.uniprot.org/core/author | "Stingl K."xsd:string |
| http://purl.uniprot.org/citations/35743313 | http://purl.uniprot.org/core/author | "De Baere E."xsd:string |
| http://purl.uniprot.org/citations/35743313 | http://purl.uniprot.org/core/author | "Heon E."xsd:string |
| http://purl.uniprot.org/citations/35743313 | http://purl.uniprot.org/core/author | "Kohl S."xsd:string |
| http://purl.uniprot.org/citations/35743313 | http://purl.uniprot.org/core/author | "Wissinger B."xsd:string |
| http://purl.uniprot.org/citations/35743313 | http://purl.uniprot.org/core/author | "Vincent A."xsd:string |
| http://purl.uniprot.org/citations/35743313 | http://purl.uniprot.org/core/author | "Shiokawa N."xsd:string |
| http://purl.uniprot.org/citations/35743313 | http://purl.uniprot.org/core/author | "Baumann B."xsd:string |
| http://purl.uniprot.org/citations/35743313 | http://purl.uniprot.org/core/author | "Raskin S."xsd:string |
| http://purl.uniprot.org/citations/35743313 | http://purl.uniprot.org/core/author | "Cordonnier M."xsd:string |
| http://purl.uniprot.org/citations/35743313 | http://purl.uniprot.org/core/author | "Sato M.T."xsd:string |
| http://purl.uniprot.org/citations/35743313 | http://purl.uniprot.org/core/author | "De Angeli P."xsd:string |
| http://purl.uniprot.org/citations/35743313 | http://purl.uniprot.org/core/date | "2022"xsd:gYear |
| http://purl.uniprot.org/citations/35743313 | http://purl.uniprot.org/core/name | "Int J Mol Sci"xsd:string |
| http://purl.uniprot.org/citations/35743313 | http://purl.uniprot.org/core/pages | "6868"xsd:string |
| http://purl.uniprot.org/citations/35743313 | http://purl.uniprot.org/core/title | "Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction."xsd:string |
| http://purl.uniprot.org/citations/35743313 | http://purl.uniprot.org/core/volume | "23"xsd:string |
| http://purl.uniprot.org/citations/35743313 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/35743313 |
| http://purl.uniprot.org/citations/35743313 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/35743313 |
| http://purl.uniprot.org/uniprot/#_B2RU31-mappedCitation-35743313 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/35743313 |
| http://purl.uniprot.org/uniprot/#_B1B1F0-mappedCitation-35743313 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/35743313 |
| http://purl.uniprot.org/uniprot/#_B7ZLG5-mappedCitation-35743313 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/35743313 |