| http://purl.uniprot.org/citations/10757639 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10757639 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10757639 | http://www.w3.org/2000/01/rdf-schema#comment | "X-linked mental retardation is estimated to affect approximately 1 in 600 males. Although numerous genes responsible for syndromic mental retardation have been identified, the study of non-syndromic mental retardation suffers from intrinsic issues of genetic heterogeneity. During the investigation of three brothers with a contiguous gene deletion syndrome of Becker muscular dystrophy, glycerol kinase deficiency, congenital adrenal hypoplasia, and mental retardation, we found their dystrophin gene to be fused tail-to-tail with a gene encoding a novel member of the interleukin-1 receptor family, IL1RAPL1. This gene has a close relative in Xq22, which we call IL1RAPL2. Both IL1RAPL1 and IL1RAPL2 have novel C-terminal sequences not present in other related proteins, and are encoded by very large genes. The 1.8-megabase deletion in these patients removes not only the last exon of the dystrophin gene, the entire glycerol kinase and DAX-1 genes, and the MAGE-B gene cluster, but also three exons encoding the intracellular signalling domain of IL1RAPL1. The literature contains multiple reports of patients with non-syndromic mental retardation in association with an Xp22.1-Xp21.3 microdeletion of a marker which lies within the IL1RAPL1 gene. The gene is also wholly or partially deleted in patients with mental retardation as part of a contiguous deletion syndrome. We suggest that IL1RAPL1, and perhaps IL1RAPL2, are strong candidates for X-linked non-syndromic mental retardation loci, and that molecules resembling IL-1 and IL-18 play a role in the development or function of the central nervous system."xsd:string |
| http://purl.uniprot.org/citations/10757639 | http://purl.org/dc/terms/identifier | "doi:10.1038/sj.ejhg.5200415"xsd:string |
| http://purl.uniprot.org/citations/10757639 | http://purl.org/dc/terms/identifier | "doi:10.1038/sj.ejhg.5200415"xsd:string |
| http://purl.uniprot.org/citations/10757639 | http://purl.uniprot.org/core/author | "Jin H."xsd:string |
| http://purl.uniprot.org/citations/10757639 | http://purl.uniprot.org/core/author | "Jin H."xsd:string |
| http://purl.uniprot.org/citations/10757639 | http://purl.uniprot.org/core/author | "Muntoni F."xsd:string |
| http://purl.uniprot.org/citations/10757639 | http://purl.uniprot.org/core/author | "Muntoni F."xsd:string |
| http://purl.uniprot.org/citations/10757639 | http://purl.uniprot.org/core/author | "Roberts R.G."xsd:string |
| http://purl.uniprot.org/citations/10757639 | http://purl.uniprot.org/core/author | "Roberts R.G."xsd:string |
| http://purl.uniprot.org/citations/10757639 | http://purl.uniprot.org/core/author | "Gardner R.J."xsd:string |
| http://purl.uniprot.org/citations/10757639 | http://purl.uniprot.org/core/author | "Gardner R.J."xsd:string |
| http://purl.uniprot.org/citations/10757639 | http://purl.uniprot.org/core/author | "Viswesvaraiah R."xsd:string |
| http://purl.uniprot.org/citations/10757639 | http://purl.uniprot.org/core/author | "Viswesvaraiah R."xsd:string |
| http://purl.uniprot.org/citations/10757639 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |
| http://purl.uniprot.org/citations/10757639 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |
| http://purl.uniprot.org/citations/10757639 | http://purl.uniprot.org/core/name | "Eur. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/10757639 | http://purl.uniprot.org/core/name | "Eur. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/10757639 | http://purl.uniprot.org/core/pages | "87-94"xsd:string |
| http://purl.uniprot.org/citations/10757639 | http://purl.uniprot.org/core/pages | "87-94"xsd:string |
| http://purl.uniprot.org/citations/10757639 | http://purl.uniprot.org/core/title | "Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.3-Xp21.3 mental retardation."xsd:string |
| http://purl.uniprot.org/citations/10757639 | http://purl.uniprot.org/core/title | "Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.3-Xp21.3 mental retardation."xsd:string |
| http://purl.uniprot.org/citations/10757639 | http://purl.uniprot.org/core/volume | "8"xsd:string |
| http://purl.uniprot.org/citations/10757639 | http://purl.uniprot.org/core/volume | "8"xsd:string |