| http://purl.uniprot.org/citations/23656646 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23656646 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23656646 | http://www.w3.org/2000/01/rdf-schema#comment | "This report identifies human skeletal diseases associated with mutations in WNT1. In 10 family members with dominantly inherited, early-onset osteoporosis, we identified a heterozygous missense mutation in WNT1, c.652T→G (p.Cys218Gly). In a separate family with 2 siblings affected by recessive osteogenesis imperfecta, we identified a homozygous nonsense mutation, c.884C→A, p.Ser295*. In vitro, aberrant forms of the WNT1 protein showed impaired capacity to induce canonical WNT signaling, their target genes, and mineralization. In mice, Wnt1 was clearly expressed in bone marrow, especially in B-cell lineage and hematopoietic progenitors; lineage tracing identified the expression of the gene in a subset of osteocytes, suggesting the presence of altered cross-talk in WNT signaling between the hematopoietic and osteoblastic lineage cells in these diseases."xsd:string |
| http://purl.uniprot.org/citations/23656646 | http://purl.org/dc/terms/identifier | "doi:10.1056/nejmoa1215458"xsd:string |
| http://purl.uniprot.org/citations/23656646 | http://purl.org/dc/terms/identifier | "doi:10.1056/nejmoa1215458"xsd:string |
| http://purl.uniprot.org/citations/23656646 | http://purl.uniprot.org/core/author | "Gibbs R.A."xsd:string |
| http://purl.uniprot.org/citations/23656646 | http://purl.uniprot.org/core/author | "Gibbs R.A."xsd:string |
| http://purl.uniprot.org/citations/23656646 | http://purl.uniprot.org/core/author | "Campeau P.M."xsd:string |
| http://purl.uniprot.org/citations/23656646 | http://purl.uniprot.org/core/author | "Campeau P.M."xsd:string |
| http://purl.uniprot.org/citations/23656646 | http://purl.uniprot.org/core/author | "Curry C.J."xsd:string |
| http://purl.uniprot.org/citations/23656646 | http://purl.uniprot.org/core/author | "Curry C.J."xsd:string |
| http://purl.uniprot.org/citations/23656646 | http://purl.uniprot.org/core/author | "Lu J.T."xsd:string |
| http://purl.uniprot.org/citations/23656646 | http://purl.uniprot.org/core/author | "Lu J.T."xsd:string |
| http://purl.uniprot.org/citations/23656646 | http://purl.uniprot.org/core/author | "Lee B.H."xsd:string |
| http://purl.uniprot.org/citations/23656646 | http://purl.uniprot.org/core/author | "Lee B.H."xsd:string |
| http://purl.uniprot.org/citations/23656646 | http://purl.uniprot.org/core/author | "Lehesjoki A.E."xsd:string |
| http://purl.uniprot.org/citations/23656646 | http://purl.uniprot.org/core/author | "Lehesjoki A.E."xsd:string |
| http://purl.uniprot.org/citations/23656646 | http://purl.uniprot.org/core/author | "Cohn D.H."xsd:string |
| http://purl.uniprot.org/citations/23656646 | http://purl.uniprot.org/core/author | "Cohn D.H."xsd:string |
| http://purl.uniprot.org/citations/23656646 | http://purl.uniprot.org/core/author | "Krakow D."xsd:string |
| http://purl.uniprot.org/citations/23656646 | http://purl.uniprot.org/core/author | "Krakow D."xsd:string |
| http://purl.uniprot.org/citations/23656646 | http://purl.uniprot.org/core/author | "Nevarez L."xsd:string |
| http://purl.uniprot.org/citations/23656646 | http://purl.uniprot.org/core/author | "Nevarez L."xsd:string |
| http://purl.uniprot.org/citations/23656646 | http://purl.uniprot.org/core/author | "Kiviranta R."xsd:string |
| http://purl.uniprot.org/citations/23656646 | http://purl.uniprot.org/core/author | "Kiviranta R."xsd:string |