{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T20:25:15Z","timestamp":1769718315822,"version":"3.49.0"},"reference-count":27,"publisher":"Proceedings of the National Academy of Sciences","issue":"25","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2000,12,5]]},"abstract":"<jats:p>\n            Malignant rhabdoid tumor (MRT) is an aggressive, highly lethal\n cancer of young children. Tumors occur in various locations, including\n kidney, brain, and soft tissues. Despite intensive therapy, 80% of\n affected children die, often within 1 year of diagnosis. The majority\n of MRT samples and cell lines have sustained biallelic inactivating\n mutations of the\n            <jats:italic>hSNF5<\/jats:italic>\n            (integrase interactor 1) gene,\n suggesting that hSNF5 may act as a tumor suppressor. We sought to\n examine the role of Snf5 in development and cancer in a murine model.\n Here we report that Snf5 is widely expressed during embryogenesis with\n focal areas of high-level expression in the mandibular portion of the\n first branchial arch and central nervous system. Homozygous knockout of\n Snf5 results in embryonic lethality by embryonic day 7, whereas\n heterozygous mice are born at the expected frequency and appear normal.\n However, beginning as early as 5 weeks of age, heterozygous mice\n develop tumors consistent with MRT. The majority of tumors arise in\n soft tissues derived from the first branchial arch. Our findings\n constitute persuasive genetic evidence that Snf5, a core member of the\n Swi\/Snf chromatin-remodeling complex, functions as a tumor suppressor\n gene, and, moreover, Snf5 heterozygotes provide a murine model of this\n lethal pediatric cancer.\n          <\/jats:p>","DOI":"10.1073\/pnas.250492697","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T14:44:19Z","timestamp":1027694659000},"page":"13796-13800","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":360,"title":["Haploinsufficiency of Snf5 (integrase interactor 1) predisposes to malignant rhabdoid tumors in mice"],"prefix":"10.1073","volume":"97","author":[{"given":"Charles W. M.","family":"Roberts","sequence":"first","affiliation":[{"name":"Division of Hematology-Oncology, Children's Hospital and Dana\r Farber Cancer Institute, Department of Pediatrics, Harvard Medical\r School and Howard Hughes Medical Institute, Boston, MA 02115; and\r Department of Pathology, Brigham and Women's Hospital\r and Harvard Medical School, Boston, MA 02115"}]},{"given":"Shelly A.","family":"Galusha","sequence":"additional","affiliation":[{"name":"Division of Hematology-Oncology, Children's Hospital and Dana\r Farber Cancer Institute, Department of Pediatrics, Harvard Medical\r School and Howard Hughes Medical Institute, Boston, MA 02115; and\r Department of Pathology, Brigham and Women's Hospital\r and Harvard Medical School, Boston, MA 02115"}]},{"given":"M\u00e1ir\u00edn E.","family":"McMenamin","sequence":"additional","affiliation":[{"name":"Division of Hematology-Oncology, Children's Hospital and Dana\r Farber Cancer Institute, Department of Pediatrics, Harvard Medical\r School and Howard Hughes Medical Institute, Boston, MA 02115; and\r Department of Pathology, Brigham and Women's Hospital\r and Harvard Medical School, Boston, MA 02115"}]},{"given":"Christopher D. M.","family":"Fletcher","sequence":"additional","affiliation":[{"name":"Division of Hematology-Oncology, Children's Hospital and Dana\r Farber Cancer Institute, Department of Pediatrics, Harvard Medical\r School and Howard Hughes Medical Institute, Boston, MA 02115; and\r Department of Pathology, Brigham and Women's Hospital\r and Harvard Medical School, Boston, MA 02115"}]},{"given":"Stuart H.","family":"Orkin","sequence":"additional","affiliation":[{"name":"Division of Hematology-Oncology, Children's Hospital and Dana\r Farber Cancer Institute, Department of Pediatrics, Harvard Medical\r School and Howard Hughes Medical Institute, Boston, MA 02115; and\r Department of Pathology, Brigham and Women's Hospital\r and Harvard Medical School, Boston, MA 02115"}]}],"member":"341","published-online":{"date-parts":[[2000,11,28]]},"reference":[{"key":"e_1_3_3_1_2","doi-asserted-by":"publisher","DOI":"10.1101\/gad.13.18.2339"},{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.8.2905"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.8016655"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.5.1950"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(00)02060-6"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/108.4.845"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-2836(84)90315-2"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1101\/gad.6.12a.2288"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/0168-9525(92)90300-S"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81641-4"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.97.7.3364"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.7801128"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(00)00108-6"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.8.4152"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1128\/jvi.70.9.6020-6028.1996"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/8811"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/28212"},{"key":"e_1_3_3_18_2","first-page":"74","volume":"59","author":"Biegel J A","year":"1999","unstructured":"J A Biegel, J-Y Zhou, L B Rorke, C Stenstrom, L M Wainwright, B Fogelgren Cancer Res 59, 74\u201379 (1999).","journal-title":"Cancer Res"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1086\/302639"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/92.8.648"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-2264(200005)28:1<31::AID-GCC4>3.0.CO;2-Y"},{"key":"e_1_3_3_22_2","doi-asserted-by":"publisher","DOI":"10.1086\/302833"},{"key":"e_1_3_3_23_2","volume-title":"In Situ Hybridization","author":"Wilkinson D G","year":"1992","unstructured":"D G Wilkinson In Situ Hybridization (IRL Press, Oxford, 1992)."},{"key":"e_1_3_3_24_2","doi-asserted-by":"publisher","DOI":"10.1097\/00125480-200007030-00007"},{"key":"e_1_3_3_25_2","doi-asserted-by":"publisher","DOI":"10.1097\/00000478-198906000-00001"},{"key":"e_1_3_3_26_2","first-page":"2759","volume":"6","author":"Biegel J A","year":"2000","unstructured":"J A Biegel, B Fogelgren, J Y Zhou, C D James, A J Janss, J C Allen, D Zagzag, C Raffel, L B Rorke Clin Cancer Res 6, 2759\u20132763 (2000).","journal-title":"Clin Cancer Res"},{"key":"e_1_3_3_27_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.21.11268"}],"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.250492697","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T13:31:21Z","timestamp":1649856681000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.250492697"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,11,28]]},"references-count":27,"journal-issue":{"issue":"25","published-print":{"date-parts":[[2000,12,5]]}},"alternative-id":["10.1073\/pnas.250492697"],"URL":"https:\/\/doi.org\/10.1073\/pnas.250492697","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000,11,28]]},"assertion":[{"value":"2000-10-17","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2000-11-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}