{"id":"https://openalex.org/W2001968573","doi":"https://doi.org/10.1038/ejhg.2015.47","title":"Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2","display_name":"Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2","publication_year":2015,"publication_date":"2015-03-18","ids":{"openalex":"https://openalex.org/W2001968573","doi":"https://doi.org/10.1038/ejhg.2015.47","mag":"2001968573","pmid":"https://pubmed.ncbi.nlm.nih.gov/25782670","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4795200"},"language":"en","primary_location":{"id":"doi:10.1038/ejhg.2015.47","doi":"https://doi.org/10.1038/ejhg.2015.47","is_oa":true,"landing_page_url":"https://doi.org/10.1038/ejhg.2015.47","pdf_url":"https://www.nature.com/articles/ejhg201547.pdf","source":{"id":"https://openalex.org/S121703463","display_name":"European Journal of Human Genetics","issn_l":"1018-4813","issn":["1018-4813","1476-5438"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://www.nature.com/articles/ejhg201547.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5100620133","display_name":"David J. Kwiatkowski","orcid":"https://orcid.org/0000-0002-5668-5219","observed_orcids":["https://orcid.org/0000-0002-5668-5219"]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"David J Kwiatkowski","raw_affiliation_strings":["Brigham and Women's Hospital, Boston, MA, USA","Brigham and Women s Hospital, Boston, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Brigham and Women's Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1283280774"]},{"raw_affiliation_string":"Brigham and Women s Hospital, Boston, USA","institution_ids":["https://openalex.org/I1283280774"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Michael R Palmer","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Michael R Palmer","raw_affiliation_strings":["Novartis Oncology Translational Medicine, Cambridge, MA, USA","Novartis Oncology Translational Medicine,, Cambridge, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Novartis Oncology Translational Medicine, Cambridge, MA, USA","institution_ids":[]},{"raw_affiliation_string":"Novartis Oncology Translational Medicine,, Cambridge, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005801531","display_name":"Sergiusz J\u00f3\u017awiak","orcid":"https://orcid.org/0000-0003-3350-6326","observed_orcids":["https://orcid.org/0000-0003-3350-6326"]},"institutions":[{"id":"https://openalex.org/I4210114383","display_name":"Children's Memorial Health Institute","ror":"https://ror.org/020atbp69","country_code":"PL","type":"healthcare","lineage":["https://openalex.org/I4210114383"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Sergiusz Jozwiak","raw_affiliation_strings":["The Children's Memorial Health Institute, Warsaw, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Children's Memorial Health Institute, Warsaw, Poland","institution_ids":["https://openalex.org/I4210114383"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016958141","display_name":"John J. Bissler","orcid":"https://orcid.org/0000-0001-9685-9183","observed_orcids":["https://orcid.org/0000-0001-9685-9183"]},"institutions":[{"id":"https://openalex.org/I1313298211","display_name":"St. Jude Children's Research Hospital","ror":"https://ror.org/02r3e0967","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1313298211","https://openalex.org/I2802152183"]},{"id":"https://openalex.org/I160606119","display_name":"University of Tennessee Health Science Center","ror":"https://ror.org/0011qv509","country_code":"US","type":"education","lineage":["https://openalex.org/I160606119"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"John Bissler","raw_affiliation_strings":["St Jude Children's Research Hospital, University of Tennessee Health Science Center, Memphis, TN, USA","St Jude Children's Research Hospital, University of Tennessee Health Science Center, Memphis, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"St Jude Children's Research Hospital, University of Tennessee Health Science Center, Memphis, TN, USA","institution_ids":["https://openalex.org/I1313298211","https://openalex.org/I160606119"]},{"raw_affiliation_string":"St Jude Children's Research Hospital, University of Tennessee Health Science Center, Memphis, USA","institution_ids":["https://openalex.org/I1313298211","https://openalex.org/I160606119"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051470557","display_name":"David Neal Franz","orcid":"https://orcid.org/0000-0001-6039-1339","observed_orcids":["https://orcid.org/0000-0001-6039-1339"]},"institutions":[{"id":"https://openalex.org/I1285204247","display_name":"Cincinnati Children's Hospital Medical Center","ror":"https://ror.org/01hcyya48","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1285204247"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"David Franz","raw_affiliation_strings":["Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA","Cincinnati Children's Hospital Medical Center, Cincinnati, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA","institution_ids":["https://openalex.org/I1285204247"]},{"raw_affiliation_string":"Cincinnati Children's Hospital Medical Center, Cincinnati, USA","institution_ids":["https://openalex.org/I1285204247"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Scott Segal","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Scott Segal","raw_affiliation_strings":["Novartis Pharmaceuticals Corporation, East Hanover, NJ, USA","Novartis Pharmaceuticals Corporation, East Hanover,, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Novartis Pharmaceuticals Corporation, East Hanover, NJ, USA","institution_ids":[]},{"raw_affiliation_string":"Novartis Pharmaceuticals Corporation, East Hanover,, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108113475","display_name":"David Chen","orcid":"https://orcid.org/0009-0007-5537-9096","observed_orcids":["https://orcid.org/0009-0007-5537-9096"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"David Chen","raw_affiliation_strings":["Novartis Pharmaceuticals Corporation, East Hanover, NJ, USA","Novartis Pharmaceuticals Corporation, East Hanover,, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Novartis Pharmaceuticals Corporation, East Hanover, NJ, USA","institution_ids":[]},{"raw_affiliation_string":"Novartis Pharmaceuticals Corporation, East Hanover,, USA","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5038315564","display_name":"Julian R. Sampson","orcid":"https://orcid.org/0000-0002-2902-2348","observed_orcids":["https://orcid.org/0000-0002-2902-2348"]},"institutions":[{"id":"https://openalex.org/I79510175","display_name":"Cardiff University","ror":"https://ror.org/03kk7td41","country_code":"GB","type":"education","lineage":["https://openalex.org/I79510175"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Julian R Sampson","raw_affiliation_strings":["Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK","Institute of Medical Genetics; School of Medicine; Cardiff University; Cardiff UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK","institution_ids":["https://openalex.org/I79510175"]},{"raw_affiliation_string":"Institute of Medical Genetics; School of Medicine; Cardiff University; Cardiff UK","institution_ids":["https://openalex.org/I79510175"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5100620133"],"corresponding_institution_ids":["https://openalex.org/I1283280774"],"apc_list":{"value":2790,"currency":"USD","value_usd":2790},"apc_paid":{"value":2790,"currency":"USD","value_usd":2790},"fwci":3.678,"has_fulltext":true,"cited_by_count":42,"citation_normalized_percentile":{"value":0.92556545,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":93,"max":99},"biblio":{"volume":"23","issue":"12","first_page":"1665","last_page":"1672"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12049","display_name":"Tuberous Sclerosis Complex Research","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T12049","display_name":"Tuberous Sclerosis Complex Research","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10952","display_name":"PI3K/AKT/mTOR signaling in cancer","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10449","display_name":"Renal cell carcinoma treatment","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/tuberous-sclerosis-complex","display_name":"tuberous sclerosis complex","score":0.9860000014305115},{"id":"https://openalex.org/keywords/everolimus","display_name":"everolimus","score":0.9950000047683716},{"id":"https://openalex.org/keywords/angiomyolipoma","display_name":"angiomyolipoma","score":0.9279999732971191},{"id":"https://openalex.org/keywords/subependymal-giant-cell-astrocytoma","display_name":"subependymal giant cell astrocytoma","score":0.996999979019165},{"id":"https://openalex.org/keywords/tsc1-mutation","display_name":"TSC1 mutation","score":0.9279999732971191},{"id":"https://openalex.org/keywords/tsc2-mutation","display_name":"TSC2 mutation","score":1.0},{"id":"https://openalex.org/keywords/mtor-inhibition","display_name":"mTOR inhibition","score":0.7269999980926514},{"id":"https://openalex.org/keywords/treatment-response","display_name":"treatment response","score":0.8029999732971191}],"concepts":[{"id":"https://openalex.org/C2776773979","wikidata":"https://www.wikidata.org/wiki/Q898669","display_name":"TSC1","level":4,"score":0.9750168919563293},{"id":"https://openalex.org/C2778980267","wikidata":"https://www.wikidata.org/wiki/Q1362721","display_name":"Tuberous sclerosis","level":2,"score":0.9743154048919678},{"id":"https://openalex.org/C2779699572","wikidata":"https://www.wikidata.org/wiki/Q421052","display_name":"Everolimus","level":2,"score":0.9017414450645447},{"id":"https://openalex.org/C2776340667","wikidata":"https://www.wikidata.org/wiki/Q122222","display_name":"Subependymal giant cell astrocytoma","level":4,"score":0.8421274423599243},{"id":"https://openalex.org/C2779422105","wikidata":"https://www.wikidata.org/wiki/Q21109261","display_name":"TSC2","level":4,"score":0.8233456015586853},{"id":"https://openalex.org/C2779052135","wikidata":"https://www.wikidata.org/wiki/Q539681","display_name":"Angiomyolipoma","level":3,"score":0.7378519773483276},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.6462262868881226},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.46268096566200256},{"id":"https://openalex.org/C2778880634","wikidata":"https://www.wikidata.org/wiki/Q177755","display_name":"Astrocytoma","level":3,"score":0.4546014964580536},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.42647555470466614},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.40452516078948975},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.33579251170158386},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.32986652851104736},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3241587281227112},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3055712580680847},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.20281639695167542},{"id":"https://openalex.org/C2778227246","wikidata":"https://www.wikidata.org/wiki/Q1365309","display_name":"Glioma","level":2,"score":0.15625661611557007},{"id":"https://openalex.org/C2780091579","wikidata":"https://www.wikidata.org/wiki/Q9377","display_name":"Kidney","level":2,"score":0.10507002472877502},{"id":"https://openalex.org/C86554907","wikidata":"https://www.wikidata.org/wiki/Q285613","display_name":"PI3K/AKT/mTOR pathway","level":3,"score":0.060044318437576294},{"id":"https://openalex.org/C190283241","wikidata":"https://www.wikidata.org/wiki/Q14599311","display_name":"Apoptosis","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000068338","descriptor_name":"Everolimus","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":false},{"descriptor_ui":"D000068338","descriptor_name":"Everolimus","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":false},{"descriptor_ui":"D000068338","descriptor_name":"Everolimus","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":false},{"descriptor_ui":"D000077004","descriptor_name":"Tuberous Sclerosis Complex 1 Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000077004","descriptor_name":"Tuberous Sclerosis Complex 1 Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000077004","descriptor_name":"Tuberous Sclerosis Complex 1 Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000077005","descriptor_name":"Tuberous Sclerosis Complex 2 Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000077005","descriptor_name":"Tuberous Sclerosis Complex 2 Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000077005","descriptor_name":"Tuberous Sclerosis Complex 2 Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000970","descriptor_name":"Antineoplastic Agents","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":false},{"descriptor_ui":"D000970","descriptor_name":"Antineoplastic Agents","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":false},{"descriptor_ui":"D000970","descriptor_name":"Antineoplastic Agents","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":false},{"descriptor_ui":"D001932","descriptor_name":"Brain Neoplasms","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":false},{"descriptor_ui":"D001932","descriptor_name":"Brain Neoplasms","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":false},{"descriptor_ui":"D001932","descriptor_name":"Brain Neoplasms","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":false},{"descriptor_ui":"D001932","descriptor_name":"Brain Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001932","descriptor_name":"Brain Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001932","descriptor_name":"Brain Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014402","descriptor_name":"Tuberous Sclerosis","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":false},{"descriptor_ui":"D014402","descriptor_name":"Tuberous Sclerosis","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":false},{"descriptor_ui":"D014402","descriptor_name":"Tuberous Sclerosis","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":false},{"descriptor_ui":"D014402","descriptor_name":"Tuberous Sclerosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014402","descriptor_name":"Tuberous Sclerosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014402","descriptor_name":"Tuberous Sclerosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018207","descriptor_name":"Angiomyolipoma","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":false},{"descriptor_ui":"D018207","descriptor_name":"Angiomyolipoma","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":false},{"descriptor_ui":"D018207","descriptor_name":"Angiomyolipoma","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":false},{"descriptor_ui":"D018207","descriptor_name":"Angiomyolipoma","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018207","descriptor_name":"Angiomyolipoma","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018207","descriptor_name":"Angiomyolipoma","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D025521","descriptor_name":"Tumor Suppressor Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D025521","descriptor_name":"Tumor Suppressor Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D025521","descriptor_name":"Tumor Suppressor Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1038/ejhg.2015.47","doi":"https://doi.org/10.1038/ejhg.2015.47","is_oa":true,"landing_page_url":"https://doi.org/10.1038/ejhg.2015.47","pdf_url":"https://www.nature.com/articles/ejhg201547.pdf","source":{"id":"https://openalex.org/S121703463","display_name":"European Journal of Human Genetics","issn_l":"1018-4813","issn":["1018-4813","1476-5438"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:3767124","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4795200","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:4795200","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4795200","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Eur J Hum Genet","raw_type":"Text"},{"id":"pmid:25782670","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25782670","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European journal of human genetics : EJHG","raw_type":"Journal Article"},{"id":"pmh:oai:https://orca.cardiff.ac.uk:85667","doi":null,"is_oa":false,"landing_page_url":"https://orca.cardiff.ac.uk/id/eprint/85667/","pdf_url":null,"source":{"id":"https://openalex.org/S4306401195","display_name":"ORCA Online Research @Cardiff (Cardiff University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I79510175","host_organization_name":"Cardiff University","host_organization_lineage":["https://openalex.org/I79510175"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Article"}],"best_oa_location":{"id":"doi:10.1038/ejhg.2015.47","doi":"https://doi.org/10.1038/ejhg.2015.47","is_oa":true,"landing_page_url":"https://doi.org/10.1038/ejhg.2015.47","pdf_url":"https://www.nature.com/articles/ejhg201547.pdf","source":{"id":"https://openalex.org/S121703463","display_name":"European Journal of Human Genetics","issn_l":"1018-4813","issn":["1018-4813","1476-5438"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":1.0,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[{"score":0.8700000047683716,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G987024288","display_name":null,"funder_award_id":"P01 CA 120964","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"}],"funders":[{"id":"https://openalex.org/F4320310388","display_name":"Novartis Pharmaceuticals Corporation","ror":"https://ror.org/028fhxy95"},{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2001968573.pdf","grobid_xml":"https://content.openalex.org/works/W2001968573.grobid-xml"},"referenced_works_count":47,"referenced_works":["https://openalex.org/W1497224732","https://openalex.org/W1499014488","https://openalex.org/W1593631067","https://openalex.org/W1602612986","https://openalex.org/W1963871587","https://openalex.org/W1974201584","https://openalex.org/W1975045883","https://openalex.org/W1976282699","https://openalex.org/W1980624793","https://openalex.org/W1982992093","https://openalex.org/W1989884830","https://openalex.org/W1996556344","https://openalex.org/W1999478580","https://openalex.org/W2019362123","https://openalex.org/W2032555040","https://openalex.org/W2035495486","https://openalex.org/W2039207384","https://openalex.org/W2042026155","https://openalex.org/W2047948101","https://openalex.org/W2050790870","https://openalex.org/W2060441112","https://openalex.org/W2062911807","https://openalex.org/W2071338415","https://openalex.org/W2080366763","https://openalex.org/W2086934839","https://openalex.org/W2089193884","https://openalex.org/W2090531536","https://openalex.org/W2095842594","https://openalex.org/W2115723011","https://openalex.org/W2134749898","https://openalex.org/W2138868511","https://openalex.org/W2139802897","https://openalex.org/W2143210482","https://openalex.org/W2147028601","https://openalex.org/W2155429111","https://openalex.org/W2164484085","https://openalex.org/W2166961726","https://openalex.org/W2169685781","https://openalex.org/W2170119537","https://openalex.org/W2171691688","https://openalex.org/W2172073182","https://openalex.org/W2338334873","https://openalex.org/W2422247170","https://openalex.org/W2484959741","https://openalex.org/W2588870577","https://openalex.org/W3013767464","https://openalex.org/W4244200332"],"related_works":["https://openalex.org/W2153879992","https://openalex.org/W2145025118","https://openalex.org/W2979034457","https://openalex.org/W2569669462","https://openalex.org/W6902318548","https://openalex.org/W2461990664","https://openalex.org/W2605628919","https://openalex.org/W2410244121","https://openalex.org/W2335402523","https://openalex.org/W4389409969"],"abstract_inverted_index":{"Tuberous":[0,19],"sclerosis":[1,20,59],"complex":[2,75],"is":[3],"an":[4],"autosomal":[5],"dominant":[6],"disorder":[7],"that":[8,212],"occurs":[9,215],"owing":[10],"to":[11,143,165],"inactivating":[12],"mutations":[13,84,100,126,136],"in":[14,23,33,86,105,111,117,129,138,181,184,188,206,226],"either":[15,189],"TSC1":[16,125,227],"or":[17,158,220,222,228],"TSC2.":[18],"complex-related":[21],"tumors":[22,61],"the":[24,34,63,81,93,177,196],"brain,":[25],"such":[26,36],"as":[27,37],"subependymal":[28],"giant":[29],"cell":[30],"astrocytoma,":[31],"and":[32,43,50,92,97,108,163,202,209],"kidney,":[35],"angiomyolipoma,":[38],"can":[39],"cause":[40],"significant":[41],"morbidity":[42],"mortality.":[44],"Recently,":[45],"randomized":[46],"clinical":[47],"trials":[48,91,107],"(EXIST-1":[49],"EXIST-2)":[51],"of":[52,56,65,73,83,135,179,217],"everolimus":[53,213],"for":[54,176],"each":[55,139,161,182],"these":[57,90],"tuberous":[58],"complex-associated":[60],"demonstrated":[62],"benefit":[64],"this":[66],"drug,":[67],"which":[68],"blocks":[69],"activated":[70],"mammalian":[71],"target":[72],"rapamycin":[74],"1.":[76],"Here":[77],"we":[78],"report":[79],"on":[80],"spectrum":[82,134],"seen":[85,137,171,205],"patients":[87,104,180],"treated":[88],"during":[89],"association":[94,154,198],"between":[95,155,199],"mutation":[96,120,156,187,201,218,225],"response.":[98],"TSC2":[99,200,229],"were":[101,109,127,169],"predominant":[102],"among":[103],"both":[106,148],"present":[110],"nearly":[112],"all":[113],"subjects":[114,131],"with":[115],"angiomyolipoma":[116,203],"whom":[118,185],"a":[119,173],"was":[121,141,151,191],"identified":[122],"(97%),":[123],"whereas":[124],"rare":[128],"those":[130,144],"(3%).":[132],"The":[133],"gene":[140,162,190],"similar":[142,174],"previously":[145],"reported.":[146],"In":[147],"trials,":[149],"there":[150],"no":[152,186,224],"apparent":[153],"type":[157,219],"location":[159,221],"within":[160],"response":[164,214],"everolimus.":[166],"Everolimus":[167],"responses":[168],"also":[170],"at":[172],"frequency":[175],"16-18%":[178],"trial":[183],"identified.":[192,232],"These":[193],"observations":[194],"confirm":[195],"strong":[197],"burden":[204],"previous":[207],"studies,":[208],"they":[210],"indicate":[211],"regardless":[216],"when":[223],"has":[230],"been":[231]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":5},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":7},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":4}],"updated_date":"2026-10-28T10:33:24.094632","created_date":"2016-06-24T00:00:00"}