| http://purl.uniprot.org/citations/22245114 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22245114 | http://www.w3.org/2000/01/rdf-schema#comment | "GNAS mutations have been implicated in the development of fibrous dysplasia and multiple endocrinopathies of the Albright-McCune syndrome. To investigate the diagnostic utility of GNAS mutations in patients with fibrous dysplasia, we performed mutational analyses of histologically confirmed fibrous dysplasia and conducted a meta-analysis of the literature. We collected 48 cases of fibrous dysplasia from 3 institutions from 2002 to 2011 and performed polymerase chain reaction and direct bidirectional sequencing of exons 8 and 9 of GNAS using paraffin-embedded tissues. We searched MEDLINE, PubMed, and the KoreaMed databases from 1997 to 2011 and included an additional 155 cases of fibrous dysplasia from 8 representative studies to conduct a meta-analysis. In our sample, 28 (58.3%) of 48 cases showed point mutations of codon 201 at exon 8. Twenty-five cases had a substitution of arginine at codon 201 for histidine (p.R201H), and 3 cases had a substitution for cysteine (p.R201C). One case had a new mutation at codon 224 (p.V224A). The incidence of GNAS mutations was significantly greater in cases that involved long bones than in cases that involved flat bones (P = .017) and was higher in polyostotic cases than in monostotic cases (P = .067). In meta-analysis, 9 studies and 203 patients were included. The overall positive rate of GNAS mutation in fibrous dysplasia was 71.9% (146/203). The major types of mutations were missense mutations such as R201H (66.4%) and R201C (30.8%). As a result, the detection of GNAS mutation could be a valuable adjunct to conventional histopathologic diagnosis of fibrous dysplasia."xsd:string |
| http://purl.uniprot.org/citations/22245114 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.humpath.2011.09.012"xsd:string |
| http://purl.uniprot.org/citations/22245114 | http://purl.uniprot.org/core/author | "Lee H."xsd:string |
| http://purl.uniprot.org/citations/22245114 | http://purl.uniprot.org/core/author | "Lee H.W."xsd:string |
| http://purl.uniprot.org/citations/22245114 | http://purl.uniprot.org/core/author | "Park H."xsd:string |
| http://purl.uniprot.org/citations/22245114 | http://purl.uniprot.org/core/author | "Seo S."xsd:string |
| http://purl.uniprot.org/citations/22245114 | http://purl.uniprot.org/core/author | "Lee E.H."xsd:string |
| http://purl.uniprot.org/citations/22245114 | http://purl.uniprot.org/core/author | "Sung J.Y."xsd:string |
| http://purl.uniprot.org/citations/22245114 | http://purl.uniprot.org/core/author | "Kim B.H."xsd:string |
| http://purl.uniprot.org/citations/22245114 | http://purl.uniprot.org/core/author | "Lee S.E."xsd:string |
| http://purl.uniprot.org/citations/22245114 | http://purl.uniprot.org/core/author | "Choi Y.L."xsd:string |
| http://purl.uniprot.org/citations/22245114 | http://purl.uniprot.org/core/author | "Kang S.Y."xsd:string |
| http://purl.uniprot.org/citations/22245114 | http://purl.uniprot.org/core/author | "Ahn G."xsd:string |
| http://purl.uniprot.org/citations/22245114 | http://purl.uniprot.org/core/author | "Seo A.N."xsd:string |
| http://purl.uniprot.org/citations/22245114 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |
| http://purl.uniprot.org/citations/22245114 | http://purl.uniprot.org/core/name | "Hum Pathol"xsd:string |
| http://purl.uniprot.org/citations/22245114 | http://purl.uniprot.org/core/pages | "1234-1242"xsd:string |
| http://purl.uniprot.org/citations/22245114 | http://purl.uniprot.org/core/title | "The diagnostic utility of the GNAS mutation in patients with fibrous dysplasia: meta-analysis of 168 sporadic cases."xsd:string |
| http://purl.uniprot.org/citations/22245114 | http://purl.uniprot.org/core/volume | "43"xsd:string |
| http://purl.uniprot.org/citations/22245114 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/22245114 |
| http://purl.uniprot.org/citations/22245114 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/22245114 |
| http://purl.uniprot.org/uniprot/#_P63092-mappedCitation-22245114 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22245114 |
| http://purl.uniprot.org/uniprot/#_A0A0S2Z3S5-mappedCitation-22245114 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22245114 |
| http://purl.uniprot.org/uniprot/#_A0A590UJF0-mappedCitation-22245114 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22245114 |