{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T16:35:39Z","timestamp":1791477339116,"version":"4.3.4"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2006,7,14]],"date-time":"2006-07-14T00:00:00Z","timestamp":1152835200000},"content-version":"vor","delay-in-days":4000,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[1995,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Angiomyolipomas (AMLs) are renal tumors that occur both sporadically and in association with tuberous sclerosis (TSC). TSC is an autosomal dominant disorder characterized by hamartomatous lesions in multiple organs. Two TSC loci are recognized <jats:italic>TSCl<\/jats:italic> on 9q34 and <jats:italic>TSC2<\/jats:italic> on 16pl3. Loss of heterozygosity (LOH) at the <jats:italic>TSCI<\/jats:italic> and <jats:italic>TSC2<\/jats:italic> loci in lesions from TSC patients has recently been reported. Lesions that are not associated with TSC have not been previously examined for LOH at the TSC loci. We analyzed 29 renal angiomyolipomas from patients without a history of TSC. Three tumors demonstrated LOH on I6p 13. This is the first report indicating that mutations in <jats:italic>TSC2<\/jats:italic> occur in tumors of patients who do not have TSC. We also found LOH on I6p 13 in 5 of 8 TSC\u2010associated AMLs. Two of these tumors were from a single patient and demonstrated different regions of LOH. These findings support the hypothesis that the <jats:italic>TSC2<\/jats:italic> gene functions as a tumor suppressor.<\/jats:p>","DOI":"10.1002\/gcc.2870130411","type":"journal-article","created":{"date-parts":[[2007,2,22]],"date-time":"2007-02-22T00:10:14Z","timestamp":1172103014000},"page":"295-298","source":"Crossref","is-referenced-by-count":219,"title":["Loss of heterozygosity in the tuberous sclerosis (<i>TSC2<\/i>) region of chromosome band l6p13 occurs in sporadic as well as TSC\u2010associated renal angiomyolipomas"],"prefix":"10.1002","volume":"13","author":[{"given":"Elizabeth Petri","family":"Henske","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hartmut P. H.","family":"Neumann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernd W.","family":"Scheithauer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eberhard W.","family":"Herbst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Priscilla","family":"Short","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J.","family":"Kwiatkowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,7,14]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.10.1829"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90618-Z"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90137-6"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1991.tb37742.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0294-193"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.10.1833"},{"key":"e_1_2_1_8_1","unstructured":"HenskeEP KwiatkowskiDJ(in press)A 5.4 Mb continuous pulsed\u2010field gel electrophoresis map of human Pg 34.1 between ABL and D9S114 including the tuberous sclerosis(TSCl) region. Genomics."},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1993.1376"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.68.4.820"},{"key":"e_1_2_1_11_1","first-page":"A104","article-title":"Angiomyolipomas of the kidney and tuberous sclerosis","volume":"51","author":"Neumann H","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1994.tb01887.x"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1994.tb01881.x"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1994.1346"},{"key":"e_1_2_1_15_1","first-page":"365","article-title":"Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1)","volume":"55","author":"Snarey A","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-410X.1990.tb07187.x"}],"container-title":["Genes, Chromosomes and Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fgcc.2870130411","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.2870130411","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T14:52:41Z","timestamp":1698331961000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gcc.2870130411"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,8]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1995,8]]}},"alternative-id":["10.1002\/gcc.2870130411"],"URL":"https:\/\/doi.org\/10.1002\/gcc.2870130411","archive":["Portico"],"relation":{},"ISSN":["1045-2257","1098-2264"],"issn-type":[{"value":"1045-2257","type":"print"},{"value":"1098-2264","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,8]]}}}