| http://purl.uniprot.org/citations/11590134 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11590134 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11590134 | http://www.w3.org/2000/01/rdf-schema#comment | "Incontinentia pigmenti (IP) is an X-linked dominant disorder characterized by abnormal skin pigmentation, retinal detachment, anodontia, alopecia, nail dystrophy and central nervous system defects. This disorder segregates as a male lethal disorder and causes skewed X-inactivation in female patients. IP is caused by mutations in a gene called NEMO, which encodes a regulatory component of the IkappaB kinase complex required to activate the NF-kappaB pathway. Here we report the identification of 277 mutations in 357 unrelated IP patients. An identical genomic deletion within NEMO accounted for 90% of the identified mutations. The remaining mutations were small duplications, substitutions and deletions. Nearly all NEMO mutations caused frameshift and premature protein truncation, which are predicted to eliminate NEMO function and cause cell lethality. Examination of families transmitting the recurrent deletion revealed that the rearrangement occurred in the paternal germline in most cases, indicating that it arises predominantly by intrachromosomal misalignment during meiosis. Expression analysis of human and mouse NEMO/Nemo showed that the gene becomes active early during embryogenesis and is expressed ubiquitously. These data confirm the involvement of NEMO in IP and will help elucidate the mechanism underlying the manifestation of this disorder and the in vivo function of NEMO. Based on these and other recent findings, we propose a model to explain the pathogenesis of this complex disorder."xsd:string |
| http://purl.uniprot.org/citations/11590134 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/10.19.2171"xsd:string |
| http://purl.uniprot.org/citations/11590134 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/10.19.2171"xsd:string |
| http://purl.uniprot.org/citations/11590134 | http://purl.uniprot.org/core/author | "Levy M."xsd:string |
| http://purl.uniprot.org/citations/11590134 | http://purl.uniprot.org/core/author | "Levy M."xsd:string |
| http://purl.uniprot.org/citations/11590134 | http://purl.uniprot.org/core/author | "Nelson D.L."xsd:string |
| http://purl.uniprot.org/citations/11590134 | http://purl.uniprot.org/core/author | "Nelson D.L."xsd:string |
| http://purl.uniprot.org/citations/11590134 | http://purl.uniprot.org/core/author | "Shaw C."xsd:string |
| http://purl.uniprot.org/citations/11590134 | http://purl.uniprot.org/core/author | "Shaw C."xsd:string |
| http://purl.uniprot.org/citations/11590134 | http://purl.uniprot.org/core/author | "Aradhya S."xsd:string |
| http://purl.uniprot.org/citations/11590134 | http://purl.uniprot.org/core/author | "Aradhya S."xsd:string |
| http://purl.uniprot.org/citations/11590134 | http://purl.uniprot.org/core/author | "Munnich A."xsd:string |
| http://purl.uniprot.org/citations/11590134 | http://purl.uniprot.org/core/author | "Munnich A."xsd:string |
| http://purl.uniprot.org/citations/11590134 | http://purl.uniprot.org/core/author | "D'Urso M."xsd:string |
| http://purl.uniprot.org/citations/11590134 | http://purl.uniprot.org/core/author | "D'Urso M."xsd:string |
| http://purl.uniprot.org/citations/11590134 | http://purl.uniprot.org/core/author | "Lewis R.A."xsd:string |
| http://purl.uniprot.org/citations/11590134 | http://purl.uniprot.org/core/author | "Lewis R.A."xsd:string |
| http://purl.uniprot.org/citations/11590134 | http://purl.uniprot.org/core/author | "Smahi A."xsd:string |
| http://purl.uniprot.org/citations/11590134 | http://purl.uniprot.org/core/author | "Smahi A."xsd:string |
| http://purl.uniprot.org/citations/11590134 | http://purl.uniprot.org/core/author | "Esposito T."xsd:string |
| http://purl.uniprot.org/citations/11590134 | http://purl.uniprot.org/core/author | "Esposito T."xsd:string |
| http://purl.uniprot.org/citations/11590134 | http://purl.uniprot.org/core/author | "Woffendin H."xsd:string |
| http://purl.uniprot.org/citations/11590134 | http://purl.uniprot.org/core/author | "Woffendin H."xsd:string |