{"id":"https://openalex.org/W4410970964","doi":"https://doi.org/10.1016/b978-0-443-10944-7.00054-8","title":"Emerging Gene-Based Pathways: mTORopathies","display_name":"Emerging Gene-Based Pathways: mTORopathies","publication_year":2025,"publication_date":"2025-06-02","ids":{"openalex":"https://openalex.org/W4410970964","doi":"https://doi.org/10.1016/b978-0-443-10944-7.00054-8"},"language":"en","primary_location":{"id":"doi:10.1016/b978-0-443-10944-7.00054-8","doi":"https://doi.org/10.1016/b978-0-443-10944-7.00054-8","is_oa":false,"landing_page_url":"https://doi.org/10.1016/b978-0-443-10944-7.00054-8","pdf_url":null,"source":{"id":"https://openalex.org/S4306463230","display_name":"Elsevier eBooks","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"ebook platform"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Swaiman's Pediatric Neurology","raw_type":"book-chapter"},"volume":{"id":"https://openalex.org/W4410969646","display_name":"Swaiman's Pediatric Neurology"},"type":"book-chapter","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5041170608","display_name":"Julie M. Ziobro","orcid":"https://orcid.org/0000-0002-7250-7308","observed_orcids":["https://orcid.org/0000-0002-7250-7308"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Julie M. Ziobro","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5002360012","display_name":"Louis T. Dang","orcid":"https://orcid.org/0000-0003-4853-4952","observed_orcids":["https://orcid.org/0000-0003-4853-4952"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Louis T. Dang","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.27058129,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":"463","last_page":"472.e3"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12049","display_name":"Tuberous Sclerosis Complex Research","score":0.82669997215271,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"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":0.82669997215271,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"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/T12552","display_name":"Fetal and Pediatric Neurological Disorders","score":0.0658000037074089,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"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/T10094","display_name":"Epilepsy research and treatment","score":0.03449999913573265,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"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/mtoropathies","display_name":"mTORopathies","score":0.984000027179718},{"id":"https://openalex.org/keywords/mtor-signaling","display_name":"mTOR signaling","score":0.8119999766349792},{"id":"https://openalex.org/keywords/malformations-of-cortical-development","display_name":"malformations of cortical development","score":0.972000002861023},{"id":"https://openalex.org/keywords/tuberous-sclerosis-complex","display_name":"tuberous sclerosis complex","score":0.9879999756813049},{"id":"https://openalex.org/keywords/hemimegalencephaly","display_name":"hemimegalencephaly","score":0.902999997138977},{"id":"https://openalex.org/keywords/megalencephaly","display_name":"megalencephaly","score":0.9959999918937683},{"id":"https://openalex.org/keywords/epilepsy","display_name":"epilepsy","score":0.7760000228881836},{"id":"https://openalex.org/keywords/autism-spectrum-disorder","display_name":"autism spectrum disorder","score":0.8849999904632568},{"id":"https://openalex.org/keywords/pathogenic-variants","display_name":"pathogenic variants","score":0.6959999799728394},{"id":"https://openalex.org/keywords/germline-mutations","display_name":"germline mutations","score":0.6930000185966492},{"id":"https://openalex.org/keywords/somatic-mutations","display_name":"somatic mutations","score":0.7720000147819519},{"id":"https://openalex.org/keywords/mosaic-variants","display_name":"mosaic variants","score":0.7200000286102295},{"id":"https://openalex.org/keywords/pik3ca","display_name":"PIK3CA","score":0.7549999952316284},{"id":"https://openalex.org/keywords/pik3r2","display_name":"PIK3R2","score":0.8870000243186951},{"id":"https://openalex.org/keywords/pten","display_name":"PTEN","score":0.8109999895095825},{"id":"https://openalex.org/keywords/akt1","display_name":"AKT1","score":0.8220000267028809},{"id":"https://openalex.org/keywords/akt3","display_name":"AKT3","score":0.8759999871253967},{"id":"https://openalex.org/keywords/depdc5","display_name":"DEPDC5","score":0.984000027179718},{"id":"https://openalex.org/keywords/nprl2","display_name":"NPRL2","score":0.6610000133514404},{"id":"https://openalex.org/keywords/nprl3","display_name":"NPRL3","score":0.9210000038146973},{"id":"https://openalex.org/keywords/rheb","display_name":"Rheb","score":0.9789999723434448},{"id":"https://openalex.org/keywords/everolimus","display_name":"everolimus","score":0.7279999852180481},{"id":"https://openalex.org/keywords/genetic-testing","display_name":"genetic testing","score":0.7229999899864197}],"concepts":[{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.47806742787361145},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3793373107910156}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/b978-0-443-10944-7.00054-8","doi":"https://doi.org/10.1016/b978-0-443-10944-7.00054-8","is_oa":false,"landing_page_url":"https://doi.org/10.1016/b978-0-443-10944-7.00054-8","pdf_url":null,"source":{"id":"https://openalex.org/S4306463230","display_name":"Elsevier eBooks","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"ebook platform"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Swaiman's Pediatric Neurology","raw_type":"book-chapter"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":1.0,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":83,"referenced_works":["https://openalex.org/W1965766554","https://openalex.org/W1973591203","https://openalex.org/W1984991894","https://openalex.org/W1989380739","https://openalex.org/W2013482405","https://openalex.org/W2013693777","https://openalex.org/W2016397734","https://openalex.org/W2019615636","https://openalex.org/W2051086393","https://openalex.org/W2055649861","https://openalex.org/W2063584996","https://openalex.org/W2064692045","https://openalex.org/W2067019627","https://openalex.org/W2073249655","https://openalex.org/W2079255707","https://openalex.org/W2079701909","https://openalex.org/W2093130407","https://openalex.org/W2118182234","https://openalex.org/W2122230708","https://openalex.org/W2142595467","https://openalex.org/W2150233389","https://openalex.org/W2157661564","https://openalex.org/W2164930173","https://openalex.org/W2168142402","https://openalex.org/W2169448800","https://openalex.org/W2180140742","https://openalex.org/W2201284016","https://openalex.org/W2316018497","https://openalex.org/W2325392078","https://openalex.org/W2345396069","https://openalex.org/W2384950973","https://openalex.org/W2413290533","https://openalex.org/W2511912940","https://openalex.org/W2626329567","https://openalex.org/W2777756804","https://openalex.org/W2802211669","https://openalex.org/W2808211602","https://openalex.org/W2809084849","https://openalex.org/W2885083705","https://openalex.org/W2897157134","https://openalex.org/W2903564686","https://openalex.org/W2906369813","https://openalex.org/W2944157527","https://openalex.org/W2945737519","https://openalex.org/W2969667716","https://openalex.org/W2969771542","https://openalex.org/W2972278146","https://openalex.org/W2980725598","https://openalex.org/W2986500860","https://openalex.org/W2999421965","https://openalex.org/W3067360117","https://openalex.org/W3083080967","https://openalex.org/W3108970006","https://openalex.org/W3114270135","https://openalex.org/W3119516682","https://openalex.org/W3119579346","https://openalex.org/W3120906673","https://openalex.org/W3129984540","https://openalex.org/W3130793149","https://openalex.org/W3144827559","https://openalex.org/W3147556541","https://openalex.org/W3173893948","https://openalex.org/W3200395095","https://openalex.org/W3202105324","https://openalex.org/W4205560243","https://openalex.org/W4206241641","https://openalex.org/W4210390266","https://openalex.org/W4210452888","https://openalex.org/W4220914784","https://openalex.org/W4280564909","https://openalex.org/W4281252365","https://openalex.org/W4282964556","https://openalex.org/W4290793632","https://openalex.org/W4291398401","https://openalex.org/W4292687434","https://openalex.org/W4294805313","https://openalex.org/W4310040654","https://openalex.org/W4315784603","https://openalex.org/W4317936112","https://openalex.org/W4318166360","https://openalex.org/W4323669281","https://openalex.org/W4379056920","https://openalex.org/W6728726433"],"related_works":["https://openalex.org/W2793783592","https://openalex.org/W4375855770","https://openalex.org/W2945737519","https://openalex.org/W4392376509","https://openalex.org/W4323669281","https://openalex.org/W2674587181","https://openalex.org/W4322765471","https://openalex.org/W4388034912","https://openalex.org/W2097625706","https://openalex.org/W3153540222"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2025-10-10T00:00:00"}