
DOI . ORG {
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Title[redir]:
Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa | European Journal of Human Genetics
Description:
The RP9 form of autosomal dominant retinitis pigmentosa (adRP) maps to a locus on human chromosome 7p14. We now report two different disease associated mutations in a previously unidentified human gene, the mouse orthologue of which has been characterised by its interaction with the Pim-1 oncogene. In the original linked family we identified the missense mutation H137L. A second missense mutation, D170G, was found in a single RP patient. The putative RP9 gene appears to be expressed in a wide range of tissues, but its function is unknown and a pathogenic mechanism remains to be determined.
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Keywords {🔍}
gene, article, retinitis, pigmentosa, protein, human, mouse, google, scholar, nature, dominant, cas, mutations, sequence, pim, autosomal, disease, residues, figure, retinal, shown, genet, analysis, data, keen, chromosome, identified, sequences, present, polymorphism, content, form, locus, family, mutation, genomic, patients, region, dna, genes, cir, conserved, exon, control, splicing, cookies, function, change, inglehearn, previously,
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nature portfolio permissions reprints privacy policy crispr/cas9-based mouse model retinal cdna libraries visual system development advertising open reading frame nature social media author information authors pre-mrna splicing factors author correspondence x-linked recessive modes emboss software suite permissions single-strand conformation polymorphism regional form putative mrna sequence �regional’ loss regional duplication mouse model bearing privacy retinitis pigmentosa european economic area transcriptional control complex journals search log specific physiological context explore content similar content full size image inverclyde royal hospital photoactivated molecular species inherited retinal degenerations multiple loci accounting erythrocyte pyrimidine 5-nucleotidase k210r polymorphism highlighted originally provoked interest high metabolic rate yac contig spanning cag repeat expansion bardet–biedl syndrome 9 accepting optional cookies developing avian retina disrupted alternative splicing inherited retinal dystrophies single rp patient expression profile based cgmp-binding domain washington genome center
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headline:Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa
description:The RP9 form of autosomal dominant retinitis pigmentosa (adRP) maps to a locus on human chromosome 7p14. We now report two different disease associated mutations in a previously unidentified human gene, the mouse orthologue of which has been characterised by its interaction with the Pim-1 oncogene. In the original linked family we identified the missense mutation H137L. A second missense mutation, D170G, was found in a single RP patient. The putative RP9 gene appears to be expressed in a wide range of tissues, but its function is unknown and a pathogenic mechanism remains to be determined.
datePublished:2002-05-24T00:00:00Z
dateModified:2002-05-24T00:00:00Z
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retinitis
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headline:Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa
description:The RP9 form of autosomal dominant retinitis pigmentosa (adRP) maps to a locus on human chromosome 7p14. We now report two different disease associated mutations in a previously unidentified human gene, the mouse orthologue of which has been characterised by its interaction with the Pim-1 oncogene. In the original linked family we identified the missense mutation H137L. A second missense mutation, D170G, was found in a single RP patient. The putative RP9 gene appears to be expressed in a wide range of tissues, but its function is unknown and a pathogenic mechanism remains to be determined.
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retinitis
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Cytogenetics
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