{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:15:25Z","timestamp":1777803325506,"version":"3.51.4"},"reference-count":87,"publisher":"SAGE Publications","issue":"9","license":[{"start":{"date-parts":[[2004,9,1]],"date-time":"2004-09-01T00:00:00Z","timestamp":1093996800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2004,9]]},"abstract":"<jats:p>Tuberous sclerosis complex is an autosomal dominant disease of benign tumors occurring in multiple organ systems of the body. Either of two genes, TSC1 or TSC2, can be mutated, resulting in the tuberous sclerosis complex phenotype. The protein products of the tuberous sclerosis complex genes, hamartin ( TSC1) and tuberin ( TSC2), have been discovered to play important roles in several cell-signaling pathways. Knowledge regarding the function of the tuberin-hamartin complex has led to therapeutic intervention trials. Numerous pathogenic mutations have been elucidated in individuals affected with tuberous sclerosis complex. Information on the type and distribution of nearly 1000 mutations in the two genes is discussed. Mosaicism for tuberous sclerosis complex mutations has been documented, complicating provision of genetic counseling to families. Emerging genotype-phenotype correlations should provide guidance for better medical care of individuals with tuberous sclerosis complex. ( J Child Neurol 2004;19:699\u2014709).<\/jats:p>","DOI":"10.1177\/08830738040190091101","type":"journal-article","created":{"date-parts":[[2017,7,9]],"date-time":"2017-07-09T13:37:00Z","timestamp":1499607420000},"page":"699-709","source":"Crossref","is-referenced-by-count":69,"title":["Molecular Genetic Basis of Tuberous Sclerosis Complex: From Bench to Bedside"],"prefix":"10.1177","volume":"19","author":[{"given":"Kit-Sing","family":"Au","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics, The University of Texas Medical School at Houston, Houston, TX"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aimee T.","family":"Williams","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics, The University of Texas Medical School at Houston, Houston, TX"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael J.","family":"Gambello","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics, The University of Texas Medical School at Houston, Houston, TX"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hope","family":"Northrup","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics, The University of Texas Medical School at Houston, Houston, TX,"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2004,9,1]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01993975"},{"key":"atypb2","first-page":"564","volume":"6","author":"Balzer F.","year":"1885","journal-title":"Arch Physiol Norm Pathol"},{"key":"atypb3","first-page":"1","volume":"2","author":"Pringle JJ","year":"1890","journal-title":"Br J Dermatol"},{"key":"atypb4","first-page":"528","volume":"19","author":"Berg H.","year":"1913","journal-title":"Psychiatr"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1007\/BF02982409"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.1001\/archneurpsyc.1951.02320060026004"},{"key":"atypb7","first-page":"26","volume":"42","author":"Lagos JC","year":"1967","journal-title":"Mayo Clin Proc"},{"key":"atypb8","first-page":"1","volume":"71","author":"Borberg A.","year":"1951","journal-title":"Acta Neurol Scand Suppl"},{"key":"atypb9","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.5.4.273"},{"key":"atypb10","first-page":"63","volume":"12","author":"Zaremba J.","year":"1968","journal-title":"J Ment Defic Res"},{"key":"atypb11","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.32.6.591"},{"key":"atypb12","first-page":"33","volume":"23","author":"Singer K.","year":"1971","journal-title":"Am J Hum Genet"},{"key":"atypb13","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.4.272"},{"key":"atypb14","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.35.4.600"},{"key":"atypb15","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.8.511"},{"key":"atypb16","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1991.00530160068015"},{"key":"atypb17","first-page":"134","volume":"10","author":"Stevenson AC","year":"1956","journal-title":"Br J Prev Soc Med"},{"key":"atypb18","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(87)90416-8"},{"key":"atypb19","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(87)92543-8"},{"key":"atypb20","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(88)92568-8"},{"key":"atypb21","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(90)90277-2"},{"key":"atypb22","first-page":"709","volume":"51","author":"Northrup H.","year":"1992","journal-title":"Am J Hum Genet"},{"key":"atypb23","doi-asserted-by":"publisher","DOI":"10.1038\/ng0992-37"},{"key":"atypb24","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90618-Z"},{"key":"atypb25","volume-title":"Online Mendelian Inheritance in Man, 191092","year":"2004"},{"key":"atypb26","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1995.1079"},{"key":"atypb27","volume-title":"Online Mendelian Inheritance in Man, 191100","year":"2004"},{"key":"atypb28","doi-asserted-by":"publisher","DOI":"10.1126\/science.277.5327.805"},{"key":"atypb29","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1204009"},{"key":"atypb30","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.25.2899"},{"key":"atypb31","doi-asserted-by":"publisher","DOI":"10.1007\/s004010051152"},{"key":"atypb32","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.24.11413"},{"key":"atypb33","doi-asserted-by":"publisher","DOI":"10.1038\/ng0195-70"},{"key":"atypb34","doi-asserted-by":"publisher","DOI":"10.1172\/JCI7319"},{"key":"atypb35","first-page":"1206","volume":"59","author":"Kobayashi T.","year":"1999","journal-title":"Cancer Res"},{"key":"atypb36","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.151033798"},{"key":"atypb37","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1205435"},{"key":"atypb38","doi-asserted-by":"publisher","DOI":"10.1101\/gad.901101"},{"key":"atypb39","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00333-6"},{"key":"atypb40","first-page":"5645","volume":"62","author":"Kenerson HL","year":"2002","journal-title":"Cancer Res"},{"key":"atypb41","first-page":"429","volume":"56","author":"Tsuchiya H.","year":"1996","journal-title":"Cancer Res"},{"key":"atypb42","doi-asserted-by":"publisher","DOI":"10.1038\/ncb839"},{"key":"atypb43","doi-asserted-by":"publisher","DOI":"10.1038\/ncb847"},{"key":"atypb44","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.27.16409"},{"key":"atypb45","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.10.6097"},{"key":"atypb46","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.C300226200"},{"key":"atypb47","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(03)00220-X"},{"key":"atypb48","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1110003"},{"key":"atypb49","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M303257200"},{"key":"atypb50","doi-asserted-by":"publisher","DOI":"10.1038\/ncb999"},{"key":"atypb51","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M303956200"},{"key":"atypb52","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.jcb.200206108"},{"issue":"20","key":"atypb53","first-page":"10816","volume":"279","author":"Shah OJ","year":"2004","journal-title":"J Biol Chem"},{"key":"atypb54","doi-asserted-by":"publisher","DOI":"10.1038\/35010550"},{"key":"atypb55","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1205962"},{"key":"atypb56","doi-asserted-by":"publisher","DOI":"10.1002\/mc.10125"},{"key":"atypb57","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.C200473200"},{"key":"atypb58","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M300862200"},{"key":"atypb59","doi-asserted-by":"publisher","DOI":"10.1042\/bst0310587"},{"key":"atypb60","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(03)01238-5"},{"key":"atypb61","first-page":"3469","volume":"9","author":"Govindarajan B.","year":"2003","journal-title":"Clin Cancer Res"},{"key":"atypb62","first-page":"F417","volume":"286","author":"Yoon HS","year":"2004","journal-title":"Physiol"},{"key":"atypb63","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.1.13"},{"key":"atypb64","doi-asserted-by":"publisher","DOI":"10.1023\/B:BREA.0000018425.31633.07"},{"key":"atypb65","doi-asserted-by":"publisher","DOI":"10.1006\/abbi.2001.2682"},{"key":"atypb66","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.00482.2002"},{"key":"atypb67","doi-asserted-by":"publisher","DOI":"10.1086\/316951"},{"key":"atypb68","doi-asserted-by":"publisher","DOI":"10.1007\/BF02265273"},{"key":"atypb69","doi-asserted-by":"publisher","DOI":"10.1038\/ng1294-328"},{"key":"atypb70","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.12.2155"},{"key":"atypb71","doi-asserted-by":"publisher","DOI":"10.1086\/302381"},{"key":"atypb72","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100460"},{"key":"atypb73","doi-asserted-by":"publisher","DOI":"10.1016\/S1357-4310(98)01245-3"},{"key":"atypb74","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(199911)14:5<412::AID-HUMU7>3.0.CO;2-K"},{"key":"atypb75","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1136\/jmg.36.4.285","volume":"36","author":"van Slegtenhorst M.","year":"1999","journal-title":"J Med Genet"},{"key":"atypb76","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0142(19981115)83:10<2208::AID-CNCR21>3.0.CO;2-K"},{"key":"atypb77","first-page":"237","volume":"42","author":"Byers PH","year":"1988","journal-title":"Am J Hum Genet"},{"key":"atypb78","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.6.521"},{"issue":"61","key":"atypb79","volume":"16","author":"Sippel KC","year":"1997","journal-title":"Am J Hum Genet"},{"issue":"61","key":"atypb80","volume":"75","author":"Murgia A.","year":"1997","journal-title":"Am J Hum Genet"},{"key":"atypb81","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199411243312102"},{"key":"atypb82","doi-asserted-by":"publisher","DOI":"10.1086\/514888"},{"key":"atypb83","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(95)90213-9"},{"key":"atypb84","doi-asserted-by":"publisher","DOI":"10.1086\/302322"},{"key":"atypb85","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.13.2265"},{"key":"atypb86","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(00)02247-9"},{"key":"atypb87","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1086\/380206","volume":"73","author":"Williams AT","year":"2003","journal-title":"Am J Hum Genet"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738040190091101","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738040190091101","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:35:51Z","timestamp":1777494951000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/08830738040190091101"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,9]]},"references-count":87,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2004,9]]}},"alternative-id":["10.1177\/08830738040190091101"],"URL":"https:\/\/doi.org\/10.1177\/08830738040190091101","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,9]]}}}