{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T17:58:58Z","timestamp":1761933538283,"version":"build-2065373602"},"reference-count":52,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2002,3,1]],"date-time":"2002-03-01T00:00:00Z","timestamp":1014940800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2002,3,1]],"date-time":"2002-03-01T00:00:00Z","timestamp":1014940800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,1,11]],"date-time":"2023-01-11T00:00:00Z","timestamp":1673395200000},"content-version":"vor","delay-in-days":7621,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["mp.uscap.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Modern Pathology"],"published-print":{"date-parts":[[2002,3]]},"DOI":"10.1038\/modpathol.3880517","type":"journal-article","created":{"date-parts":[[2004,4,14]],"date-time":"2004-04-14T13:08:51Z","timestamp":1081948131000},"page":"205-210","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":19,"title":["Mutational Analysis of the von Hippel Lindau Gene in Clear Cell Renal Carcinomas from Tuberous Sclerosis Complex Patients"],"prefix":"10.1016","volume":"15","author":[{"given":"Karen","family":"Duffy","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tahseen","family":"Al-Saleem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Magdalena","family":"Karbowniczek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Ewalt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda H","family":"Prowse","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth Petri","family":"Henske","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1038\/modpathol.3880517_bib1","doi-asserted-by":"crossref","DOI":"10.1093\/oso\/9780195122107.001.0001","author":"Gomez","year":"1999","journal-title":"Tuberous sclerosis complex"},{"key":"10.1038\/modpathol.3880517_bib2","doi-asserted-by":"crossref","first-page":"1490","DOI":"10.1016\/S0140-6736(05)78872-3","article-title":"Prevalence of tuberous sclerosis estimated by capture-recapture analysis","volume":"351","author":"O'Callaghan","year":"1998","journal-title":"Lancet"},{"key":"10.1038\/modpathol.3880517_bib3","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":"10.1038\/modpathol.3880517_bib4","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":"10.1038\/modpathol.3880517_bib5","first-page":"21","article-title":"Angiomyolipoma of kidney","volume":"15","author":"Eble","year":"1998","journal-title":"Semin Diagn Pathol"},{"key":"10.1038\/modpathol.3880517_bib6","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1016\/0090-4295(91)80261-5","article-title":"Malignant renal tumors in tuberous sclerosis","volume":"37","author":"Washecka","year":"1991","journal-title":"Urology"},{"key":"10.1038\/modpathol.3880517_bib7","first-page":"1201","article-title":"Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features","volume":"149","author":"Bjornsson","year":"1996","journal-title":"Am J Pathol"},{"key":"10.1038\/modpathol.3880517_bib8","doi-asserted-by":"crossref","first-page":"2208","DOI":"10.1002\/(SICI)1097-0142(19981115)83:10<2208::AID-CNCR21>3.0.CO;2-K","article-title":"Malignant tumors of the kidney, brain, and soft tissues in children and young adults with the tuberous sclerosis complex","volume":"83","author":"Al-Saleem","year":"1998","journal-title":"Cancer"},{"key":"10.1038\/modpathol.3880517_bib9","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1097\/00000478-199802000-00005","article-title":"Apparent renal cell carcinomas in tuberous sclerosis are heterogeneous: the identification of malignant epithelioid angiomyolipoma","volume":"22","author":"Pea","year":"1998","journal-title":"Am J Surg Pathol"},{"key":"10.1038\/modpathol.3880517_bib10","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1038\/modpathol.3880275","article-title":"Concurrent angiomyolipoma and renal cell neoplasia: a study of 36 cases","volume":"14","author":"Jimenez","year":"2001","journal-title":"Mod Pathol"},{"key":"10.1038\/modpathol.3880517_bib11","first-page":"2852","article-title":"Frequent somatic mutations and loss of heterozygosity of the von Hippel-Lindau tumor suppressor gene in primary human renal cell carcinomas","volume":"54","author":"Shuin","year":"1994","journal-title":"Cancer Res"},{"key":"10.1038\/modpathol.3880517_bib12","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1038\/ng0594-85","article-title":"Mutations of the VHL tumour suppressor gene in renal carcinoma","volume":"7","author":"Gnarra","year":"1994","journal-title":"Nat Genet"},{"key":"10.1038\/modpathol.3880517_bib13","doi-asserted-by":"crossref","first-page":"2169","DOI":"10.1093\/hmg\/3.12.2169","article-title":"Somatic mutations of the von Hippel-Lindau disease tumor suppressor gene in non-familial clear cell renal carcinoma","volume":"3","author":"Foster","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1038\/modpathol.3880517_bib14","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":"10.1038\/modpathol.3880517_bib15","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1136\/jmg.33.4.328","article-title":"Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations","volume":"33","author":"Maher","year":"1996","journal-title":"J Med Genet"},{"key":"10.1038\/modpathol.3880517_bib16","first-page":"838","article-title":"Detection of von Hippel-Lindau disease gene mutations in paraffin-embedded sporadic renal cell carcinoma specimens","volume":"9","author":"Zhuang","year":"1996","journal-title":"Mod Pathol"},{"key":"10.1038\/modpathol.3880517_bib17","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1097\/00000478-199710000-00001","article-title":"Epithelioid angiomyolipoma of the kidney: a report of five cases with a prominent and diagnostically confusing epithelioid smooth muscle component","volume":"21","author":"Eble","year":"1997","journal-title":"Am J Surg Pathol"},{"key":"10.1038\/modpathol.3880517_bib18","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/S0720-048X(97)00037-5","article-title":"Meta analysis of the relationship between tuberous sclerosis complex and renal cell carcinoma","volume":"27","author":"Tello","year":"1998","journal-title":"Eur J Radiol"},{"key":"10.1038\/modpathol.3880517_bib19","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1542\/peds.80.6.898","article-title":"Renal cell carcinoma in patients with tuberous sclerosis","volume":"80","author":"Weinblatt","year":"1987","journal-title":"Pediatrics"},{"key":"10.1038\/modpathol.3880517_bib20","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1016\/S0022-5347(17)41057-3","article-title":"Renal angiomyolipoma associated with lymph node involvement and renal cell carcinoma in patients with tuberous sclerosis","volume":"141","author":"Taylor","year":"1989","journal-title":"J Urol"},{"key":"10.1038\/modpathol.3880517_bib21","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/S0022-5347(17)45539-X","article-title":"Renal cell carcinoma and angiomyolipoma in tuberous sclerosis: case report","volume":"135","author":"Graves","year":"1986","journal-title":"J Urol"},{"key":"10.1038\/modpathol.3880517_bib22","first-page":"351","article-title":"Renal cell carcinoma as significant manifestation of tuberous sclerosis complex","volume":"48","author":"Kulkarni","year":"2000","journal-title":"J Assoc Physicians India"},{"key":"10.1038\/modpathol.3880517_bib23","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1111\/j.1442-2042.1997.tb00147.x","article-title":"Bilateral chromophobe cell renal carcinoma in tuberous sclerosis complex","volume":"4","author":"Hidai","year":"1997","journal-title":"Int J Urol"},{"key":"10.1038\/modpathol.3880517_bib24","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1016\/S0022-3468(96)90689-2","article-title":"Renal cell carcinoma in association with tuberous sclerosis in children","volume":"31","author":"Robertson","year":"1996","journal-title":"J Pediatr Surg"},{"key":"10.1038\/modpathol.3880517_bib25","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1111\/j.1442-2042.1996.tb00501.x","article-title":"Bilateral renal cell carcinoma in a patient with tuberous sclerosis","volume":"3","author":"Aoyama","year":"1996","journal-title":"Int J Urol"},{"key":"10.1038\/modpathol.3880517_bib26","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1136\/jmg.32.11.848","article-title":"Multifocal renal cell carcinoma in sibs from a chromosome 9 linked (TSC1) tuberous sclerosis family","volume":"32","author":"Sampson","year":"1995","journal-title":"J Med Genet"},{"key":"10.1038\/modpathol.3880517_bib27","doi-asserted-by":"crossref","first-page":"11413","DOI":"10.1073\/pnas.91.24.11413","article-title":"Predisposition to renal carcinoma in the Eker rat is determined by germ-line mutation of the tuberous sclerosis 2 (TSC2) gene","volume":"91","author":"Yeung","year":"1994","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1038\/modpathol.3880517_bib28","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1038\/ng0195-70","article-title":"A germline insertion in the tuberous sclerosis (Tsc2) gene gives rise to the Eker rat model of dominantly inherited cancer","volume":"9","author":"Kobayashi","year":"1995","journal-title":"Nat Genet"},{"key":"10.1038\/modpathol.3880517_bib29","first-page":"1206","article-title":"Renal carcinogenesis, hepatic hemangiomatosis, and embryonic lethality caused by a germ-line Tsc2 mutation in mice","volume":"59","author":"Kobayashi","year":"1999","journal-title":"Cancer Res"},{"key":"10.1038\/modpathol.3880517_bib30","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1172\/JCI7319","article-title":"Tsc2(+\/\u2212) mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background","volume":"104","author":"Onda","year":"1999","journal-title":"J Clin Invest"},{"key":"10.1038\/modpathol.3880517_bib31","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/S0065-230X(08)60742-3","article-title":"Inherited carcinomas of the kidney","volume":"75","author":"Zbar","year":"1998","journal-title":"Adv Cancer Res"},{"key":"10.1038\/modpathol.3880517_bib32","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1126\/science.8493574","article-title":"Identification of the von Hippel-Lindau disease tumor suppressor gene","volume":"260","author":"Latif","year":"1993","journal-title":"Science"},{"key":"10.1038\/modpathol.3880517_bib33","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/ng0597-68","article-title":"Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas","volume":"16","author":"Schmidt","year":"1997","journal-title":"Nat Genet"},{"key":"10.1038\/modpathol.3880517_bib34","doi-asserted-by":"crossref","first-page":"1685","DOI":"10.1093\/jnci\/90.22.1685","article-title":"von Hippel-Lindau gene mutations in human and rodent renal tumors\u2014association with clear cell phenotype","volume":"90","author":"Gnarra","year":"1998","journal-title":"J Natl Cancer Inst"},{"key":"10.1038\/modpathol.3880517_bib35","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1002\/(SICI)1098-2264(199807)22:3<200::AID-GCC5>3.0.CO;2-#","article-title":"Inactivation of the von Hippel-Lindau (VHL) tumour suppressor gene and allelic losses at chromosome arm 3p in primary renal cell carcinoma: evidence for a VHL-independent pathway in clear cell renal tumourigenesis","volume":"22","author":"Clifford","year":"1998","journal-title":"Genes Chromosom Cancer"},{"key":"10.1038\/modpathol.3880517_bib36","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1002\/(SICI)1097-0215(19980812)77:4<494::AID-IJC3>3.0.CO;2-P","article-title":"Genetic analysis of 2 cases of clear cell renal cancer in 2 sisters","volume":"77","author":"Bos","year":"1998","journal-title":"Int J Cancer"},{"key":"10.1038\/modpathol.3880517_bib37","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1016\/S0140-6736(05)61751-5","article-title":"Familial non-VHL non-papillary clear-cell renal cancer","volume":"349","author":"Teh","year":"1997","journal-title":"Lancet"},{"key":"10.1038\/modpathol.3880517_bib38","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1136\/jmg.37.5.348","article-title":"Familial clear cell renal cell carcinoma (FCRC): clinical features and mutation analysis of the VHL, MET, and CUL2 candidate genes","volume":"37","author":"Woodward","year":"2000","journal-title":"J Med Genet"},{"key":"10.1038\/modpathol.3880517_bib39","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1136\/mp.53.3.137","article-title":"Role of chromosome 3p12-p21 tumour suppressor genes in clear cell renal cell carcinoma: analysis of VHL dependent and VHL independent pathways of tumorigenesis","volume":"53","author":"Martinez","year":"2000","journal-title":"Mol Pathol"},{"key":"10.1038\/modpathol.3880517_bib40","doi-asserted-by":"crossref","first-page":"1096","DOI":"10.1111\/j.1349-7006.2000.tb00890.x","article-title":"A novel \u201cNihon\u201d rat model of a Mendelian dominantly inherited renal cell carcinoma","volume":"91","author":"Okimoto","year":"2000","journal-title":"Jpn J Cancer Res"},{"key":"10.1038\/modpathol.3880517_bib41","doi-asserted-by":"crossref","first-page":"4132","DOI":"10.1073\/pnas.070053397","article-title":"Genetic mapping of a naturally occurring hereditary renal cancer syndrome in dogs","volume":"97","author":"Jonasdottir","year":"2000","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1038\/modpathol.3880517_bib42","doi-asserted-by":"crossref","first-page":"6097","DOI":"10.1074\/jbc.272.10.6097","article-title":"The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis","volume":"272","author":"Xiao","year":"1997","journal-title":"J Biol Chem"},{"key":"10.1038\/modpathol.3880517_bib43","doi-asserted-by":"crossref","first-page":"29301","DOI":"10.1074\/jbc.272.46.29301","article-title":"Role of the tuberous sclerosis gene-2 product in cell cycle control. Loss of the tuberous sclerosis gene-2 induces quiescent cells to enter S phase","volume":"272","author":"Soucek","year":"1997","journal-title":"J Biol Chem"},{"key":"10.1038\/modpathol.3880517_bib44","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1016\/S0092-8674(00)80657-1","article-title":"gigas, a Drosophila homolog of tuberous sclerosis gene product-2, regulates the cell cycle","volume":"96","author":"Ito","year":"1999","journal-title":"Cell"},{"key":"10.1038\/modpathol.3880517_bib45","doi-asserted-by":"crossref","first-page":"1721","DOI":"10.1093\/hmg\/9.12.1721","article-title":"The TSC1 gene product, hamartin, negatively regulates cell proliferation","volume":"9","author":"Miloloza","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1038\/modpathol.3880517_bib46","doi-asserted-by":"crossref","first-page":"6306","DOI":"10.1038\/sj.onc.1204009","article-title":"The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination","volume":"19","author":"Benvenuto","year":"2000","journal-title":"Oncogene"},{"key":"10.1038\/modpathol.3880517_bib47","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1016\/S0092-8674(01)00333-6","article-title":"Drosophila Tsc1 functions with Tsc2 to antagonize insulin signaling in regulating cell growth, cell proliferation, and organ size","volume":"105","author":"Potter","year":"2001","journal-title":"Cell"},{"key":"10.1038\/modpathol.3880517_bib48","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/S0092-8674(01)00332-4","article-title":"The Drosophila tuberous sclerosis complex gene homologs restrict cell growth and cell proliferation","volume":"105","author":"Tapon","year":"2001","journal-title":"Cell"},{"key":"10.1038\/modpathol.3880517_bib49","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1038\/35010550","article-title":"The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho","volume":"2","author":"Lamb","year":"2000","journal-title":"Nat Cell Biol"},{"key":"10.1038\/modpathol.3880517_bib50","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1006\/excr.2000.5139","article-title":"The von Hippel-Lindau tumor suppressor gene","volume":"264","author":"Kondo","year":"2001","journal-title":"Exp Cell Res"},{"key":"10.1038\/modpathol.3880517_bib51","first-page":"224","article-title":"Localization of tumor suppressor loci on chromosome 9 in primary human renal cell carcinomas","volume":"55","author":"Cairns","year":"1995","journal-title":"Cancer Res"},{"key":"10.1038\/modpathol.3880517_bib52","first-page":"177","article-title":"Chemotherapy for renal cell carcinoma","volume":"27","author":"Amato","year":"2000","journal-title":"Semin Oncol"}],"container-title":["Modern Pathology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/3880517.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/3880517","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0893395222048979?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0893395222048979?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/3880517.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T01:22:02Z","timestamp":1760232122000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0893395222048979"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,3]]},"references-count":52,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2002,3]]}},"alternative-id":["S0893395222048979"],"URL":"https:\/\/doi.org\/10.1038\/modpathol.3880517","relation":{},"ISSN":["0893-3952"],"issn-type":[{"type":"print","value":"0893-3952"}],"subject":[],"published":{"date-parts":[[2002,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mutational Analysis of the von Hippel Lindau Gene in Clear Cell Renal Carcinomas from Tuberous Sclerosis Complex Patients","name":"articletitle","label":"Article Title"},{"value":"Modern Pathology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1038\/modpathol.3880517","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2002 United States & Canadian Academy of Pathology.","name":"copyright","label":"Copyright"}]}}