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- aggregation classification "A1".
- aggregation creator B283488.
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- aggregation date "2007".
- aggregation format "application/pdf".
- aggregation hasFormat 374887.bibtex.
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- aggregation isPartOf urn:issn:0002-9297.
- aggregation language "eng".
- aggregation rights "I have transferred the copyright for this publication to the publisher".
- aggregation subject "Medicine and Health Sciences".
- aggregation title "Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa".
- aggregation abstract "Autosomal dominant retinitis pigmentosa" (adRP) refers to a genetically heterogeneous group of retinal dystrophies, in which 54% of all cases can be attributed to 17 disease loci. Here, we describe the localization and identification of the photoreceptor cell-specific nuclear receptor gene NR2E3 as a novel disease locus and gene for adRP. A heterozygous mutation c. 166G -> A (p. Gly56Arg) was identified in the first zinc finger of NR2E3 in a large Belgian family affected with adRP. Overall, this missense mutation was found in 3 families affected with adRP among 87 unrelated families with potentially dominant retinal dystrophies ( 3.4%), of which 47 were affected with RP ( 6.4%). Interestingly, affected members of these families display a novel recognizable NR2E3-related clinical subtype of adRP. Other mutations of NR2E3 have previously been shown to cause autosomal recessive enhanced S-cone syndrome, a specific retinal phenotype. We propose a different pathogenetic mechanism for these distinct dominant and recessive phenotypes, which may be attributed to the dual key role of NR2E3 in the regulation of photoreceptor-specific genes during rod development and maintenance.".
- aggregation authorList BK562804.
- aggregation endPage "157".
- aggregation issue "1".
- aggregation startPage "147".
- aggregation volume "81".
- aggregation aggregates 617510.
- aggregation isDescribedBy 374887.
- aggregation similarTo 518426.
- aggregation similarTo LU-374887.