Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration
Article Abstract:
The identification of the genes responsible for the retinal degeneration 3 (rd3) retinopathy is reported and is shown that Rd3 is preferentially expressed in the retina, where the rd3 mutation leads to a truncated and relatively unstable protein in COS-1 cells. The results have suggested that retinopathy-associated RD3 protein is part of subnuclear protein complexes involved in diverse processes, such as transcription and splicing.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
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A novel locus (RP24 (ital)) for X-linked retinitis pigmentosa maps to Xq26-27
Article Abstract:
A novel locus which maps to Xq26-27 and is linked to X-linked retinitis pigmentosa (RP24 (ital)), in which patients show progressive loss in cone receptor function, is discussed. Haplotype and linkage analysis of one XLRP pedigree was used to identify the locus and the genetic heterogeneity of the disease is made more clear, leading to development of better diagnostic tools.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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A range of clinical phenotypes associated with mutations in CRX (ital), a photoreceptor transcription-factor gene
Article Abstract:
The range of clinical phenotypes associated with mutations in the cone-rod homeobox gene CRX (ital), a photoreceptor transcription-factor gene, are discussed. CRX (ital) mutations are perhaps associated with clinical pheotypes that include progressive diseases such as cone-rod dystrophy or retinitis pigmentosa and congenital retinal dystrophy (Leber).
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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