{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["9(29)"],"submitter":["Muscarella LA"],"pubmed_abstract":["The Hyperparathyroidism with Jaw-Tumours syndrome is caused by mutations of the <i>CDC73</i> gene: it has been suggested that early onset of the disease and high Ca<sup>2+</sup> levels may predict the presence of a <i>CDC73</i> mutation. We searched for large deletions at the <i>CDC73</i> locus in patients with: HPT-JT (nr 2), atypical adenoma (nr 7) or sporadic parathyroid carcinoma (nr 11) with a specific MLPA and qRT-PCR assays applied on DNA extracted from whole blood. A Medline search in database for all the papers reporting a <i>CDC73</i> gene mutation, clinical/histological diagnosis, age at onset, Ca<sup>2+</sup>, PTH levels for familial/sporadic cases was conducted with the aim to possibly identify biochemical/clinical markers predictive, in first diagnosis, of the presence of a <"],"journal":["Oncotarget"],"pagination":["20721-20733"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5945533"],"repository":["biostudies-literature"],"pubmed_title":["Large deletion at the <i>CDC73</i> gene locus and search for predictive markers of the presence of a <i>CDC73</i> genetic lesion."],"pmcid":["PMC5945533"],"pubmed_authors":["la Torre A","Copetti M","Fontana A","Cinque L","Palumbo O","Scillitani A","Guarnieri V","Baorda F","Franco R","de Martino D","Repaci A","Pagotto U","Losito NS","Graziano P","Chiofalo MG","Turchetti D","Pezzullo L","Muscarella LA"],"additional_accession":[]},"is_claimable":false,"name":"Large deletion at the <i>CDC73</i> gene locus and search for predictive markers of the presence of a <i>CDC73</i> genetic lesion.","description":"The Hyperparathyroidism with Jaw-Tumours syndrome is caused by mutations of the <i>CDC73</i> gene: it has been suggested that early onset of the disease and high Ca<sup>2+</sup> levels may predict the presence of a <i>CDC73</i> mutation. We searched for large deletions at the <i>CDC73</i> locus in patients with: HPT-JT (nr 2), atypical adenoma (nr 7) or sporadic parathyroid carcinoma (nr 11) with a specific MLPA and qRT-PCR assays applied on DNA extracted from whole blood. A Medline search in database for all the papers reporting a <i>CDC73</i> gene mutation, clinical/histological diagnosis, age at onset, Ca<sup>2+</sup>, PTH levels for familial/sporadic cases was conducted with the aim to possibly identify biochemical/clinical markers predictive, in first diagnosis, of the presence of a <","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018 Apr","modification":"2026-04-29T16:42:24.957Z","creation":"2019-03-26T23:40:51Z"},"accession":"S-EPMC5945533","cross_references":{"pubmed":["29755684"],"doi":["10.18632/oncotarget.25067"]}}