| http://purl.uniprot.org/citations/10839543 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10839543 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10839543 | http://www.w3.org/2000/01/rdf-schema#comment | "Familial incontinentia pigmenti (IP; MIM 308310) is a genodermatosis that segregates as an X-linked dominant disorder and is usually lethal prenatally in males. In affected females it causes highly variable abnormalities of the skin, hair, nails, teeth, eyes and central nervous system. The prominent skin signs occur in four classic cutaneous stages: perinatal inflammatory vesicles, verrucous patches, a distinctive pattern of hyperpigmentation and dermal scarring. Cells expressing the mutated X chromosome are eliminated selectively around the time of birth, so females with IP exhibit extremely skewed X-inactivation. The reasons for cell death in females and in utero lethality in males are unknown. The locus for IP has been linked genetically to the factor VIII gene in Xq28 (ref. 3). The gene for NEMO (NF-kappaB essential modulator)/IKKgamma (IkappaB kinase-gamma) has been mapped to a position 200 kilobases proximal to the factor VIII locus. NEMO is required for the activation of the transcription factor NF-kappaB and is therefore central to many immune, inflammatory and apoptotic pathways. Here we show that most cases of IP are due to mutations of this locus and that a new genomic rearrangement accounts for 80% of new mutations. As a consequence, NF-kappaB activation is defective in IP cells."xsd:string |
| http://purl.uniprot.org/citations/10839543 | http://purl.org/dc/terms/identifier | "doi:10.1038/35013114"xsd:string |
| http://purl.uniprot.org/citations/10839543 | http://purl.org/dc/terms/identifier | "doi:10.1038/35013114"xsd:string |
| http://purl.uniprot.org/citations/10839543 | http://purl.uniprot.org/core/author | "Courtois G."xsd:string |
| http://purl.uniprot.org/citations/10839543 | http://purl.uniprot.org/core/author | "Courtois G."xsd:string |
| http://purl.uniprot.org/citations/10839543 | http://purl.uniprot.org/core/author | "Levy M."xsd:string |
| http://purl.uniprot.org/citations/10839543 | http://purl.uniprot.org/core/author | "Levy M."xsd:string |
| http://purl.uniprot.org/citations/10839543 | http://purl.uniprot.org/core/author | "Nelson D.L."xsd:string |
| http://purl.uniprot.org/citations/10839543 | http://purl.uniprot.org/core/author | "Nelson D.L."xsd:string |
| http://purl.uniprot.org/citations/10839543 | http://purl.uniprot.org/core/author | "Poustka A."xsd:string |
| http://purl.uniprot.org/citations/10839543 | http://purl.uniprot.org/core/author | "Poustka A."xsd:string |
| http://purl.uniprot.org/citations/10839543 | http://purl.uniprot.org/core/author | "Wiemann S."xsd:string |
| http://purl.uniprot.org/citations/10839543 | http://purl.uniprot.org/core/author | "Wiemann S."xsd:string |
| http://purl.uniprot.org/citations/10839543 | http://purl.uniprot.org/core/author | "Yamagata T."xsd:string |
| http://purl.uniprot.org/citations/10839543 | http://purl.uniprot.org/core/author | "Yamagata T."xsd:string |
| http://purl.uniprot.org/citations/10839543 | http://purl.uniprot.org/core/author | "Aradhya S."xsd:string |
| http://purl.uniprot.org/citations/10839543 | http://purl.uniprot.org/core/author | "Aradhya S."xsd:string |
| http://purl.uniprot.org/citations/10839543 | http://purl.uniprot.org/core/author | "Ciccodicola A."xsd:string |
| http://purl.uniprot.org/citations/10839543 | http://purl.uniprot.org/core/author | "Ciccodicola A."xsd:string |
| http://purl.uniprot.org/citations/10839543 | http://purl.uniprot.org/core/author | "Kioschis P."xsd:string |
| http://purl.uniprot.org/citations/10839543 | http://purl.uniprot.org/core/author | "Kioschis P."xsd:string |
| http://purl.uniprot.org/citations/10839543 | http://purl.uniprot.org/core/author | "Israel A."xsd:string |
| http://purl.uniprot.org/citations/10839543 | http://purl.uniprot.org/core/author | "Israel A."xsd:string |