| http://purl.uniprot.org/citations/10709991 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10709991 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10709991 | http://www.w3.org/2000/01/rdf-schema#comment | "Osteosclerosis (oc) is an autosomal recessive lethal mutation that impairs bone resorption by osteoclasts, and induces a general increase of bone density in affected mice. Genetic mapping of the oc mutation was used as a backbone in a positional cloning approach in the pericentromeric region of mouse chromosome 19. Perfect cosegregation of the osteopetrotic phenotype with polymorphic markers enabled the construction of a sequence-ready bacterial artificial chromosome (BAC) contig of this region. Genomic sequencing of a 200-kb area revealed the presence of the mouse homologue to the human gene encoding the osteoclast-specific 116-kDa subunit of the vacuolar proton pump. This gene was located recently on human 11q13, a genomic region conserved with proximal mouse chromosome 19. Sequencing of the 5' end of the gene in oc/oc mice showed a 1.6-kb deletion, including the translation start site, which impairs genuine transcription of this subunit. The inactivation of this osteoclast-specific vacuolar proton ATPase subunit could be responsible for the lack of this enzyme in the apical membranes of osteoclast cells in oc/oc mice, thereby preventing the resorption function of these cells, which leads to the osteopetrotic phenotype."xsd:string |
| http://purl.uniprot.org/citations/10709991 | http://purl.org/dc/terms/identifier | "doi:10.1016/S8756-3282(99)00278-1"xsd:string |
| http://purl.uniprot.org/citations/10709991 | http://purl.org/dc/terms/identifier | "doi:10.1016/s8756-3282(99)00278-1"xsd:string |
| http://purl.uniprot.org/citations/10709991 | http://purl.uniprot.org/core/author | "Jaillon O."xsd:string |
| http://purl.uniprot.org/citations/10709991 | http://purl.uniprot.org/core/author | "Jaillon O."xsd:string |
| http://purl.uniprot.org/citations/10709991 | http://purl.uniprot.org/core/author | "Robert C."xsd:string |
| http://purl.uniprot.org/citations/10709991 | http://purl.uniprot.org/core/author | "Robert C."xsd:string |
| http://purl.uniprot.org/citations/10709991 | http://purl.uniprot.org/core/author | "Poirier C."xsd:string |
| http://purl.uniprot.org/citations/10709991 | http://purl.uniprot.org/core/author | "Poirier C."xsd:string |
| http://purl.uniprot.org/citations/10709991 | http://purl.uniprot.org/core/author | "Parrinello H."xsd:string |
| http://purl.uniprot.org/citations/10709991 | http://purl.uniprot.org/core/author | "Parrinello H."xsd:string |
| http://purl.uniprot.org/citations/10709991 | http://purl.uniprot.org/core/author | "Grosgeorge J."xsd:string |
| http://purl.uniprot.org/citations/10709991 | http://purl.uniprot.org/core/author | "Grosgeorge J."xsd:string |
| http://purl.uniprot.org/citations/10709991 | http://purl.uniprot.org/core/author | "Carle G.F."xsd:string |
| http://purl.uniprot.org/citations/10709991 | http://purl.uniprot.org/core/author | "Carle G.F."xsd:string |
| http://purl.uniprot.org/citations/10709991 | http://purl.uniprot.org/core/author | "Franchi A."xsd:string |
| http://purl.uniprot.org/citations/10709991 | http://purl.uniprot.org/core/author | "Franchi A."xsd:string |
| http://purl.uniprot.org/citations/10709991 | http://purl.uniprot.org/core/author | "Gaudray P."xsd:string |
| http://purl.uniprot.org/citations/10709991 | http://purl.uniprot.org/core/author | "Gaudray P."xsd:string |
| http://purl.uniprot.org/citations/10709991 | http://purl.uniprot.org/core/author | "Scimeca J.C."xsd:string |
| http://purl.uniprot.org/citations/10709991 | http://purl.uniprot.org/core/author | "Scimeca J.C."xsd:string |
| http://purl.uniprot.org/citations/10709991 | http://purl.uniprot.org/core/author | "Trojani C."xsd:string |
| http://purl.uniprot.org/citations/10709991 | http://purl.uniprot.org/core/author | "Trojani C."xsd:string |