{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T14:51:25Z","timestamp":1776091885395,"version":"3.50.1"},"reference-count":26,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2014,12,1]],"date-time":"2014-12-01T00:00:00Z","timestamp":1417392000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,12,1]],"date-time":"2014-12-01T00:00:00Z","timestamp":1417392000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100002701","name":"Ministry of Education","doi-asserted-by":"publisher","award":["NRF-2013R1A1A2063324"],"award-info":[{"award-number":["NRF-2013R1A1A2063324"]}],"id":[{"id":"10.13039\/501100002701","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100022544","name":"Samsung Biomedical Research Institute","doi-asserted-by":"publisher","award":["SBRI C-B1-105-3"],"award-info":[{"award-number":["SBRI C-B1-105-3"]}],"id":[{"id":"10.13039\/501100022544","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Experimental and Molecular Pathology"],"published-print":{"date-parts":[[2014,12]]},"DOI":"10.1016\/j.yexmp.2014.09.013","type":"journal-article","created":{"date-parts":[[2014,10,2]],"date-time":"2014-10-02T16:48:57Z","timestamp":1412268537000},"page":"440-444","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"title":["The analysis of mutations and exon deletions at TSC2 gene in angiomyolipomas associated with tuberous sclerosis complex"],"prefix":"10.1016","volume":"97","author":[{"given":"Heung-Mo","family":"Yang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hye-Jung","family":"Choi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Doo-Pyo","family":"Hong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sung-Yeon","family":"Joo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Na-Eun","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ji-Young","family":"Song","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoon-La","family":"Choi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeeyun","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongil","family":"Choi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"BoKyung","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyo-Jun","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jae-Berm","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sung Joo","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.yexmp.2014.09.013_bb0005","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1097\/PAS.0b013e31817ed7a6","article-title":"Renal angiomyolipoma: clinicopathologic study of 194 cases with emphasis on the epithelioid histology and tuberous sclerosis association","volume":"33","author":"Aydin","year":"2009","journal-title":"Am. J. Surg. Pathol."},{"key":"10.1016\/j.yexmp.2014.09.013_bb0010","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1111\/j.1365-2559.2005.02134.x","article-title":"Epithelioid angiomyolipoma of the kidney mimicking renal sarcoma","volume":"47","author":"Belanger","year":"2005","journal-title":"Histopathology"},{"key":"10.1016\/j.yexmp.2014.09.013_bb0015","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1007\/s004390000348","article-title":"Molecular genetic advances in tuberous sclerosis","volume":"107","author":"Cheadle","year":"2000","journal-title":"Hum. Genet."},{"key":"10.1016\/j.yexmp.2014.09.013_bb0020","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1159\/000480854","article-title":"Renal angiomyolipoma\u2014experience of 20years in Taiwan","volume":"32","author":"Chen","year":"1997","journal-title":"Eur. Urol."},{"key":"10.1016\/j.yexmp.2014.09.013_bb0025","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1097\/00000478-200101000-00014","article-title":"Malignant epithelioid angiomyolipoma (\u2018sarcoma ex angiomyolipoma\u2019) of the kidney: a case report and review of the literature","volume":"25","author":"Cibas","year":"2001","journal-title":"Am. J. Surg. Pathol."},{"key":"10.1016\/j.yexmp.2014.09.013_bb0030","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1086\/316951","article-title":"Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs","volume":"68","author":"Dabora","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.yexmp.2014.09.013_bb0035","first-page":"21","article-title":"Angiomyolipoma of kidney","volume":"15","author":"Eble","year":"1998","journal-title":"Semin. Diagn. Pathol."},{"key":"10.1016\/j.yexmp.2014.09.013_bb0040","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1016\/0092-8674(93)90618-Z","article-title":"Identification and characterization of the tuberous sclerosis gene on chromosome 16","volume":"75","author":"European Chromosome 16 Tuberous Sclerosis, C.","year":"1993","journal-title":"Cell"},{"key":"10.1016\/j.yexmp.2014.09.013_bb0045","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.humpath.2009.05.011","article-title":"Perivascular epithelioid cell neoplasms: pathology and pathogenesis","volume":"41","author":"Folpe","year":"2010","journal-title":"Hum. Pathol."},{"key":"10.1016\/j.yexmp.2014.09.013_bb0050","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1212\/01.wnl.0000280578.99900.96","article-title":"Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations","volume":"70","author":"Jansen","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.yexmp.2014.09.013_bb0055","doi-asserted-by":"crossref","first-page":"2155","DOI":"10.1093\/hmg\/6.12.2155","article-title":"Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis","volume":"6","author":"Jones","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.yexmp.2014.09.013_bb0060","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1086\/302381","article-title":"Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis","volume":"64","author":"Jones","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.yexmp.2014.09.013_bb0065","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1177\/088307380001501003","article-title":"Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients","volume":"15","author":"Jozwiak","year":"2000","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.yexmp.2014.09.013_bb0070","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1097\/00000478-200204000-00017","article-title":"Malignant transformation of renal angiomyolipoma: a case report","volume":"26","author":"Kawaguchi","year":"2002","journal-title":"Am. J. Surg. Pathol."},{"key":"10.1016\/j.yexmp.2014.09.013_bb0075","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1016\/j.juro.2008.05.041","article-title":"Clinical correlates of renal angiomyolipoma subtypes in 209 patients: classic, fat poor, tuberous sclerosis associated and epithelioid","volume":"180","author":"Lane","year":"2008","journal-title":"J. Urol."},{"key":"10.1016\/j.yexmp.2014.09.013_bb0080","doi-asserted-by":"crossref","first-page":"1635","DOI":"10.1097\/01.ju.0000058253.40352.60","article-title":"The tuberous sclerosis complex and its highly variable manifestations","volume":"169","author":"Lendvay","year":"2003","journal-title":"J. Urol."},{"key":"10.1016\/j.yexmp.2014.09.013_bb0085","doi-asserted-by":"crossref","first-page":"475","DOI":"10.2174\/138920208786241243","article-title":"Genetics and molecular biology of tuberous sclerosis complex","volume":"9","author":"Napolioni","year":"2008","journal-title":"Curr. Genomics"},{"key":"10.1016\/j.yexmp.2014.09.013_bb0090","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.1016\/S0022-5347(05)64440-0","article-title":"Contemporary diagnosis and management of renal angiomyolipoma","volume":"168","author":"Nelson","year":"2002","journal-title":"J. Urol."},{"key":"10.1016\/j.yexmp.2014.09.013_bb0095","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1111\/j.1469-1809.1994.tb01881.x","article-title":"Two loci for tuberous sclerosis: one on 9q34 and one on 16p13","volume":"58","author":"Povey","year":"1994","journal-title":"Ann. Hum. Genet."},{"key":"10.1016\/j.yexmp.2014.09.013_bb0100","doi-asserted-by":"crossref","first-page":"e24919","DOI":"10.1371\/journal.pone.0024919","article-title":"Angiomyolipoma have common mutations in TSC2 but no other common genetic events","volume":"6","author":"Qin","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.yexmp.2014.09.013_bb0105","doi-asserted-by":"crossref","first-page":"1777","DOI":"10.1038\/sj.ki.5001853","article-title":"Renal manifestations of tuberous sclerosis complex: incidence, prognosis, and predictive factors","volume":"70","author":"Rakowski","year":"2006","journal-title":"Kidney Int."},{"key":"10.1016\/j.yexmp.2014.09.013_bb0110","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1177\/088307389801301206","article-title":"Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria","volume":"13","author":"Roach","year":"1998","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.yexmp.2014.09.013_bb0115","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1016\/S0025-6196(12)61196-3","article-title":"Causes of death in patients with tuberous sclerosis","volume":"66","author":"Shepherd","year":"1991","journal-title":"Mayo Clin. Proc."},{"key":"10.1016\/j.yexmp.2014.09.013_bb0120","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1111\/j.1464-410X.1990.tb07187.x","article-title":"Renal angiomyolipoma: report of 24 cases","volume":"66","author":"Tong","year":"1990","journal-title":"Br. J. Urol."},{"key":"10.1016\/j.yexmp.2014.09.013_bb0125","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1126\/science.277.5327.805","article-title":"Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34","volume":"277","author":"van Slegtenhorst","year":"1997","journal-title":"Science"},{"key":"10.1016\/j.yexmp.2014.09.013_bb0130","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1002\/(SICI)1096-8628(20000117)90:2<123::AID-AJMG7>3.0.CO;2-L","article-title":"Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations","volume":"90","author":"Yamashita","year":"2000","journal-title":"Am. J. Med. Genet."}],"container-title":["Experimental and Molecular Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014480014001543?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014480014001543?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,16]],"date-time":"2025-09-16T02:43:49Z","timestamp":1757990629000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0014480014001543"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,12]]},"references-count":26,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["S0014480014001543"],"URL":"https:\/\/doi.org\/10.1016\/j.yexmp.2014.09.013","relation":{},"ISSN":["0014-4800"],"issn-type":[{"value":"0014-4800","type":"print"}],"subject":[],"published":{"date-parts":[[2014,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The analysis of mutations and exon deletions at TSC2 gene in angiomyolipomas associated with tuberous sclerosis complex","name":"articletitle","label":"Article Title"},{"value":"Experimental and Molecular Pathology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.yexmp.2014.09.013","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"}]}}