{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T22:44:16Z","timestamp":1776206656878,"version":"3.50.1"},"reference-count":29,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,12,1]],"date-time":"2018-12-01T00:00:00Z","timestamp":1543622400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Human Pathology"],"published-print":{"date-parts":[[2018,12]]},"DOI":"10.1016\/j.humpath.2018.07.017","type":"journal-article","created":{"date-parts":[[2018,7,21]],"date-time":"2018-07-21T02:33:04Z","timestamp":1532140384000},"page":"61-67","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"special_numbering":"C","title":["Genotype-phenotype correlation of patients with tuberous sclerosis complex\u2013associated renal angiomyolipoma: a descriptive study"],"prefix":"10.1016","volume":"82","author":[{"given":"Shuqiang","family":"Li","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yushi","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhiyong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanfeng","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wansheng","family":"Gao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongsheng","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinxing","family":"Wei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.humpath.2018.07.017_bb0005","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1111\/j.1749-6632.1991.tb37754.x","article-title":"Epidemiology of tuberous sclerosis","volume":"615","author":"Osborne","year":"1991","journal-title":"Ann N Y Acad Sci"},{"key":"10.1016\/j.humpath.2018.07.017_bb0010","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1136\/jmg.26.1.28","article-title":"Genetic aspects of tuberous sclerosis in the west of Scotland","volume":"26","author":"Sampson","year":"1989","journal-title":"J Med Genet"},{"key":"10.1016\/j.humpath.2018.07.017_bb0015","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1016\/j.pediatrneurol.2014.11.013","article-title":"Tuberous sclerosis complex: a survey of health care resource use and health burden","volume":"52","author":"Rentz","year":"2015","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.humpath.2018.07.017_bb0020","doi-asserted-by":"crossref","first-page":"1116","DOI":"10.1080\/13696998.2016.1202254","article-title":"The economic burden of tuberous sclerosis complex in UK patients with renal manifestations: a retrospective cohort study in the clinical practice research datalink (CPRD)","volume":"19","author":"Kingswood","year":"2016","journal-title":"J Med Econ"},{"key":"10.1016\/j.humpath.2018.07.017_bb0025","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1016\/S0140-6736(08)61279-9","article-title":"Tuberous sclerosis","volume":"372","author":"Curatolo","year":"2008","journal-title":"Lancet"},{"key":"10.1016\/j.humpath.2018.07.017_bb0030","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.humpath.2018.07.017_bb0035","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 Consortium","year":"1993","journal-title":"Cell"},{"key":"10.1016\/j.humpath.2018.07.017_bb0040","doi-asserted-by":"crossref","first-page":"1259","DOI":"10.1016\/S0960-9822(03)00506-2","article-title":"Tuberous sclerosis complex gene products, tuberin and hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb","volume":"13","author":"Tee","year":"2003","journal-title":"Curr Biol"},{"key":"10.1016\/j.humpath.2018.07.017_bb0045","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1111\/j.1749-6632.2009.05117.x","article-title":"The tuberous sclerosis complex","volume":"1184","author":"Orlova","year":"2010","journal-title":"Ann N Y Acad Sci"},{"key":"10.1016\/j.humpath.2018.07.017_bb0050","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/jhg.2013.3","article-title":"Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported","volume":"58","author":"Niida","year":"2013","journal-title":"J Hum Genet"},{"key":"10.1016\/j.humpath.2018.07.017_bb0055","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1016\/j.pediatrneurol.2012.02.002","article-title":"Identification of TSC1 and TSC2 mutations in Korean patients with tuberous sclerosis complex","volume":"46","author":"Jang","year":"2012","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.humpath.2018.07.017_bb0060","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1093\/cercor\/bhs310","article-title":"Fetal brain mTOR signaling activation in tuberous sclerosis complex","volume":"24","author":"Tsai","year":"2014","journal-title":"Cereb Cortex"},{"key":"10.1016\/j.humpath.2018.07.017_bb0065","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1089\/lrb.2009.0019","article-title":"mTOR signaling in lymphangioleiomyomatosis","volume":"8","author":"Kristof","year":"2010","journal-title":"Lymphat Res Biol"},{"key":"10.1016\/j.humpath.2018.07.017_bb0070","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1093\/jnen\/63.12.1236","article-title":"Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation","volume":"63","author":"Chan","year":"2004","journal-title":"J Neuropathol Exp Neurol"},{"key":"10.1016\/j.humpath.2018.07.017_bb0075","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0157396","article-title":"Novel histopathological patterns in cortical tubers of epilepsy surgery patients with tuberous sclerosis complex","volume":"11","author":"Muhlebner","year":"2016","journal-title":"PLoS One"},{"key":"10.1016\/j.humpath.2018.07.017_bb0080","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1111\/epi.12680","article-title":"Severity of manifestations in tuberous sclerosis complex in relation to genotype","volume":"55","author":"Kothare","year":"2014","journal-title":"Epilepsia"},{"key":"10.1016\/j.humpath.2018.07.017_bb0085","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1086\/514888","article-title":"Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene","volume":"61","author":"Sampson","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.humpath.2018.07.017_bb0090","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/j.pediatrneurol.2013.08.001","article-title":"Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference","volume":"49","author":"Northrup","year":"2013","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.humpath.2018.07.017_bb0095","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/S1470-2045(07)70411-4","article-title":"Possible mechanisms of disease development in tuberous sclerosis","volume":"9","author":"Jozwiak","year":"2008","journal-title":"Lancet Oncol"},{"key":"10.1016\/j.humpath.2018.07.017_bb0100","doi-asserted-by":"crossref","first-page":"471","DOI":"10.4161\/cbt.2.5.446","article-title":"Rhebbing up mTOR: new insights on TSC1 and TSC2, and the pathogenesis of tuberous sclerosis","volume":"2","author":"Kwiatkowski","year":"2003","journal-title":"Cancer Biol Ther"},{"key":"10.1016\/j.humpath.2018.07.017_bb0105","doi-asserted-by":"crossref","first-page":"1345","DOI":"10.1056\/NEJMra055323","article-title":"The tuberous sclerosis complex","volume":"355","author":"Crino","year":"2006","journal-title":"N Engl J Med"},{"key":"10.1016\/j.humpath.2018.07.017_bb0110","doi-asserted-by":"crossref","first-page":"16035","DOI":"10.1038\/nrdp.2016.35","article-title":"Tuberous sclerosis complex","volume":"2","author":"Henske","year":"2016","journal-title":"Nat Rev Dis Primers"},{"key":"10.1016\/j.humpath.2018.07.017_bb0115","first-page":"7085","article-title":"Clinical and genetic analysis of tuberous sclerosis complex\u2013associated renal angiomyolipoma in Chinese pedigrees","volume":"14","author":"Li","year":"2017","journal-title":"Oncol Lett"},{"key":"10.1016\/j.humpath.2018.07.017_bb0120","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.semcdb.2014.08.006","article-title":"mTOR and autophagy: a dynamic relationship governed by nutrients and energy","volume":"36","author":"Dunlop","year":"2014","journal-title":"Semin Cell Dev Biol"},{"key":"10.1016\/j.humpath.2018.07.017_bb0125","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/j.diii.2013.01.003","article-title":"Kidney damage due to tuberous sclerosis complex: management recommendations","volume":"94","author":"Rouviere","year":"2013","journal-title":"Diagn Interv Imaging"},{"key":"10.1016\/j.humpath.2018.07.017_bb0130","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1097\/01.ju.0000100100.36354.61","article-title":"Management of renal angiomyolipomas associated with tuberous sclerosis complex","volume":"171","author":"Harabayashi","year":"2004","journal-title":"J Urol"},{"key":"10.1016\/j.humpath.2018.07.017_bb0135","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1016\/S0140-6736(12)61767-X","article-title":"Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial","volume":"381","author":"Bissler","year":"2013","journal-title":"Lancet"},{"key":"10.1016\/j.humpath.2018.07.017_bb0140","doi-asserted-by":"crossref","first-page":"1424","DOI":"10.1016\/j.juro.2014.04.096","article-title":"Efficacy and safety of sirolimus for renal angiomyolipoma in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis: a systematic review","volume":"192","author":"Peng","year":"2014","journal-title":"J Urol"},{"key":"10.1016\/j.humpath.2018.07.017_bb0145","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1007\/s00467-016-3474-6","article-title":"Treatment of renal angiomyolipoma in tuberous sclerosis complex (TSC) patients","volume":"32","author":"Brakemeier","year":"2017","journal-title":"Pediatr Nephrol"}],"container-title":["Human Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0046817718302843?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0046817718302843?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,12,17]],"date-time":"2018-12-17T10:33:30Z","timestamp":1545042810000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0046817718302843"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12]]},"references-count":29,"alternative-id":["S0046817718302843"],"URL":"https:\/\/doi.org\/10.1016\/j.humpath.2018.07.017","relation":{},"ISSN":["0046-8177"],"issn-type":[{"value":"0046-8177","type":"print"}],"subject":[],"published":{"date-parts":[[2018,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genotype-phenotype correlation of patients with tuberous sclerosis complex\u2013associated renal angiomyolipoma: a descriptive study","name":"articletitle","label":"Article Title"},{"value":"Human Pathology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.humpath.2018.07.017","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}