{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:22:01Z","timestamp":1791332521046,"version":"4.3.1"},"reference-count":16,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2014,11,1]],"date-time":"2014-11-01T00:00:00Z","timestamp":1414800000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,11,1]],"date-time":"2014-11-01T00:00:00Z","timestamp":1414800000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","metabolismjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Metabolism"],"published-print":{"date-parts":[[2014,11]]},"DOI":"10.1016\/j.metabol.2014.07.010","type":"journal-article","created":{"date-parts":[[2014,7,25]],"date-time":"2014-07-25T02:01:02Z","timestamp":1406253662000},"page":"1385-1389","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":52,"title":["Identification of a novel mutation in the polymerase delta 1 (POLD1) gene in a lipodystrophic patient affected by mandibular hypoplasia, deafness, progeroid features (MDPL) syndrome"],"prefix":"10.1016","volume":"63","author":[{"given":"Caterina","family":"Pelosini","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Martinelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Ceccarini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Magno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Barone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessio","family":"Basolo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Fierabracci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Vitti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margherita","family":"Maffei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ferruccio","family":"Santini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.metabol.2014.07.010_bb0005","doi-asserted-by":"crossref","first-page":"310","DOI":"10.4158\/EP09154.RA","article-title":"Clinical classification and treatment of congenital and acquired lipodystrophy","volume":"16","author":"Chan","year":"2010","journal-title":"Endocr Pract"},{"key":"10.1016\/j.metabol.2014.07.010_bb0010","doi-asserted-by":"crossref","first-page":"3313","DOI":"10.1210\/jc.2011-1159","article-title":"Lipodystrophies: genetic and acquired body fat disorders","volume":"96","author":"Garg","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.metabol.2014.07.010_bb0015","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1038\/nrendo.2010.199","article-title":"Lipodystrophy: pathophysiology and advances in treatment","volume":"7","author":"Fiorenza","year":"2011","journal-title":"Nat Rev Endocrinol"},{"key":"10.1016\/j.metabol.2014.07.010_bb0020","doi-asserted-by":"crossref","first-page":"1331","DOI":"10.1016\/j.metabol.2012.04.013","article-title":"Leptin in congenital or HIV-associated lipodistrophy and metabolic syndrome: a need for more mechanistic studies and large, randomized, placebo-controlled trials","volume":"61","author":"Foo","year":"2012","journal-title":"Metabolism"},{"key":"10.1016\/j.metabol.2014.07.010_bb0025","doi-asserted-by":"crossref","first-page":"E192","DOI":"10.1210\/jc.2010-0419","article-title":"A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism","volume":"95","author":"Shastry","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.metabol.2014.07.010_bb0030","doi-asserted-by":"crossref","first-page":"2821","DOI":"10.1210\/jc.2002-021575","article-title":"Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia associated lipodystrophy","volume":"88","author":"Simha","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.metabol.2014.07.010_bb0035","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1038\/ng.2670","article-title":"An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy","volume":"45","author":"Weedon","year":"2013","journal-title":"Nat Genet"},{"issue":"9","key":"10.1016\/j.metabol.2014.07.010_bb0040","doi-asserted-by":"crossref","first-page":"e7038","DOI":"10.1371\/journal.pone.0007038","article-title":"Dual energy X-Ray absorptiometry body composition reference values from NHANES","volume":"4","author":"Kelly","year":"2009","journal-title":"PLoS One"},{"issue":"7","key":"10.1016\/j.metabol.2014.07.010_bb0045","doi-asserted-by":"crossref","first-page":"1857","DOI":"10.2337\/dc07-0025","article-title":"Dual-energy X-ray absorptiometry study of body composition in patients with lipodystrophy","volume":"30","author":"Valerio","year":"2007","journal-title":"Diabetes Care"},{"issue":"9","key":"10.1016\/j.metabol.2014.07.010_bb0050","doi-asserted-by":"crossref","first-page":"2623","DOI":"10.1172\/JCI38660","article-title":"Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy","volume":"119","author":"Hayashi","year":"2009","journal-title":"J Clin Invest"},{"key":"10.1016\/j.metabol.2014.07.010_bb0055","doi-asserted-by":"crossref","first-page":"12480","DOI":"10.1074\/jbc.M111.332577","article-title":"The Werner syndrome exonuclease facilitates DNA degradation and high fidelity DNA polymerization by human DNA polymerase \u03b4","volume":"287","author":"Kamath-Loeb","year":"2012","journal-title":"J Biol Chem"},{"key":"10.1016\/j.metabol.2014.07.010_bb0060","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1038\/ng.2503","article-title":"Germline mutations in the proof-reading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas","volume":"45","author":"Palles","year":"2013","journal-title":"Nat Genet"},{"key":"10.1016\/j.metabol.2014.07.010_bb0065","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1038\/ejhg.2010.216","article-title":"Concurrent genetic alterations in DNA polymerase proofreading and mismatch repair in human colorectal cancer","volume":"19","author":"Yoshida","year":"2011","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.metabol.2014.07.010_bb0070","doi-asserted-by":"crossref","first-page":"15560","DOI":"10.1073\/pnas.232340999","article-title":"High incidence of epithelial cancers in mice deficient for DNA polymerase delta proofreading","volume":"99","author":"Goldsby","year":"2002","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.metabol.2014.07.010_bb0075","doi-asserted-by":"crossref","first-page":"e4184","DOI":"10.1371\/journal.pone.0004184","article-title":"DNA polymerase delta is required for early mammalian embryogenesis","volume":"4","author":"Uchimura","year":"2009","journal-title":"PLoS One"},{"key":"10.1016\/j.metabol.2014.07.010_bb0080","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1073\/pnas.0907526106","article-title":"A cancer-associated DNA polymerase \u03b4 variant modeled in yeast causes a catastrophic increase in genomic instability","volume":"107","author":"Daee","year":"2010","journal-title":"Proc Natl Acad Sci U S A"}],"container-title":["Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0026049514002303?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0026049514002303?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,21]],"date-time":"2025-09-21T04:04:48Z","timestamp":1758427488000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0026049514002303"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,11]]},"references-count":16,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2014,11]]}},"alternative-id":["S0026049514002303"],"URL":"https:\/\/doi.org\/10.1016\/j.metabol.2014.07.010","relation":{},"ISSN":["0026-0495"],"issn-type":[{"value":"0026-0495","type":"print"}],"subject":[],"published":{"date-parts":[[2014,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Identification of a novel mutation in the polymerase delta 1 (POLD1) gene in a lipodystrophic patient affected by mandibular hypoplasia, deafness, progeroid features (MDPL) syndrome","name":"articletitle","label":"Article Title"},{"value":"Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.metabol.2014.07.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}