{"id":"https://openalex.org/W7146976766","doi":"https://doi.org/10.70675/56e75526zd32cz4ae6z8fa4z8665aae79a27","title":"Molecular characterization of hereditary and sporadic papillary renal cell carcinoma type 2 (PRCC2)","display_name":"Molecular characterization of hereditary and sporadic papillary renal cell carcinoma type 2 (PRCC2)","publication_year":2015,"publication_date":"2015-12-18","ids":{"openalex":"https://openalex.org/W7146976766","doi":"https://doi.org/10.70675/56e75526zd32cz4ae6z8fa4z8665aae79a27","mag":"2275192843"},"language":"fr","primary_location":{"id":"doi:10.70675/56e75526zd32cz4ae6z8fa4z8665aae79a27","doi":"https://doi.org/10.70675/56e75526zd32cz4ae6z8fa4z8665aae79a27","is_oa":false,"landing_page_url":"https://doi.org/10.70675/56e75526zd32cz4ae6z8fa4z8665aae79a27","pdf_url":null,"source":{"id":"https://openalex.org/S4406923047","display_name":"theses.fr (ABES)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Paris, EPHE","raw_type":"dissertation"},"volume":null,"type":"dissertation","is_traditional":true,"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/A5044179971","display_name":"Victoria Perrier-Trudova","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I159885104","display_name":"\u00c9cole Pratique des Hautes \u00c9tudes","ror":"https://ror.org/046b3cj80","country_code":"FR","type":"education","lineage":["https://openalex.org/I159885104","https://openalex.org/I2746051580"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"Victoria Perrier-Trudova","raw_affiliation_strings":["Paris, EPHE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Paris, EPHE","institution_ids":["https://openalex.org/I159885104"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5044179971"],"corresponding_institution_ids":["https://openalex.org/I159885104"],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10449","display_name":"Renal cell carcinoma treatment","score":0.9682999849319458,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"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/T10449","display_name":"Renal cell carcinoma treatment","score":0.9682999849319458,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"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/T10631","display_name":"Cancer, Hypoxia, and Metabolism","score":0.008799999952316284,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.00419999985024333,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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"}}],"keywords":[{"id":"https://openalex.org/keywords/hereditary-papillary-renal-cell-carcinoma","display_name":"hereditary papillary renal cell carcinoma","score":0.9509999752044678},{"id":"https://openalex.org/keywords/hereditary-leiomyomatosis-and-renal-cell-cancer","display_name":"hereditary leiomyomatosis and renal cell carcinoma","score":0.8339999914169312},{"id":"https://openalex.org/keywords/fumarate-hydratase","display_name":"fumarate hydratase","score":0.8199999928474426},{"id":"https://openalex.org/keywords/fumarate-accumulation","display_name":"fumarate accumulation","score":0.671999990940094},{"id":"https://openalex.org/keywords/hif-signaling","display_name":"HIF signaling","score":0.9150000214576721},{"id":"https://openalex.org/keywords/reactive-oxygen-species","display_name":"reactive oxygen species","score":0.9879999756813049},{"id":"https://openalex.org/keywords/keap1-nrf2-pathway","display_name":"Nrf2/Keap1 pathway","score":0.9520000219345093},{"id":"https://openalex.org/keywords/antioxidant-response-element","display_name":"antioxidant response element","score":0.8059999942779541},{"id":"https://openalex.org/keywords/akr1b10","display_name":"AKR1B10","score":0.9480000138282776},{"id":"https://openalex.org/keywords/bortezomib","display_name":"bortezomib","score":0.949999988079071},{"id":"https://openalex.org/keywords/gene-expression-profiling","display_name":"gene expression profiling","score":0.5680000185966492},{"id":"https://openalex.org/keywords/biomarkers","display_name":"biomarkers","score":0.5910000205039978}],"concepts":[{"id":"https://openalex.org/C106302636","wikidata":"https://www.wikidata.org/wiki/Q21107515","display_name":"Fumarase","level":3,"score":0.715499997138977},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.5770999789237976},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.531000018119812},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.34940001368522644},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3188000023365021},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.2879999876022339},{"id":"https://openalex.org/C2778264664","wikidata":"https://www.wikidata.org/wiki/Q422445","display_name":"Tumor suppressor gene","level":4,"score":0.28060001134872437},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.27799999713897705},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.27320000529289246},{"id":"https://openalex.org/C2993477687","wikidata":"https://www.wikidata.org/wiki/Q2292945","display_name":"Papillary carcinoma","level":4,"score":0.25270000100135803},{"id":"https://openalex.org/C29456083","wikidata":"https://www.wikidata.org/wiki/Q1221899","display_name":"Gynecology","level":1,"score":0.25119999051094055}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.70675/56e75526zd32cz4ae6z8fa4z8665aae79a27","doi":"https://doi.org/10.70675/56e75526zd32cz4ae6z8fa4z8665aae79a27","is_oa":false,"landing_page_url":"https://doi.org/10.70675/56e75526zd32cz4ae6z8fa4z8665aae79a27","pdf_url":null,"source":{"id":"https://openalex.org/S4406923047","display_name":"theses.fr (ABES)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Paris, EPHE","raw_type":"dissertation"},{"id":"pmh:2015EPHE3085","doi":null,"is_oa":false,"landing_page_url":"http://www.theses.fr/2015EPHE3085","pdf_url":null,"source":{"id":"https://openalex.org/S4406923047","display_name":"theses.fr (ABES)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Electronic Thesis or Dissertation"},{"id":"mag:2275192843","doi":null,"is_oa":false,"landing_page_url":"http://www.theses.fr/2015EPHE3085","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9074000120162964}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":172,"referenced_works":["https://openalex.org/W11675579","https://openalex.org/W1490246426","https://openalex.org/W1546952499","https://openalex.org/W1789875395","https://openalex.org/W1854708637","https://openalex.org/W1964116613","https://openalex.org/W1964736947","https://openalex.org/W1966186981","https://openalex.org/W1967291345","https://openalex.org/W1968883331","https://openalex.org/W1970540546","https://openalex.org/W1974989473","https://openalex.org/W1975545468","https://openalex.org/W1976949137","https://openalex.org/W1977015709","https://openalex.org/W1978900704","https://openalex.org/W1980181140","https://openalex.org/W1980471295","https://openalex.org/W1985755720","https://openalex.org/W1988431841","https://openalex.org/W1988581394","https://openalex.org/W1988742700","https://openalex.org/W1989517813","https://openalex.org/W1990078200","https://openalex.org/W1990588975","https://openalex.org/W1991547229","https://openalex.org/W1991613342","https://openalex.org/W1991631628","https://openalex.org/W1991811051","https://openalex.org/W1992724001","https://openalex.org/W1997098864","https://openalex.org/W1998583950","https://openalex.org/W1998596376","https://openalex.org/W1998664010","https://openalex.org/W1999351218","https://openalex.org/W2001056096","https://openalex.org/W2002870864","https://openalex.org/W2003921338","https://openalex.org/W2004053427","https://openalex.org/W2004056464","https://openalex.org/W2005917601","https://openalex.org/W2006634582","https://openalex.org/W2006811017","https://openalex.org/W2007143913","https://openalex.org/W2008279952","https://openalex.org/W2009061194","https://openalex.org/W2011300705","https://openalex.org/W2013255721","https://openalex.org/W2016381774","https://openalex.org/W2017249743","https://openalex.org/W2017617555","https://openalex.org/W2019573100","https://openalex.org/W2021793290","https://openalex.org/W2024355133","https://openalex.org/W2030594691","https://openalex.org/W2030869361","https://openalex.org/W2035450299","https://openalex.org/W2037737165","https://openalex.org/W2039013494","https://openalex.org/W2040031153","https://openalex.org/W2042983418","https://openalex.org/W2043034889","https://openalex.org/W2045371968","https://openalex.org/W2046218157","https://openalex.org/W2046461470","https://openalex.org/W2049619163","https://openalex.org/W2056158825","https://openalex.org/W2056229704","https://openalex.org/W2057550665","https://openalex.org/W2057567734","https://openalex.org/W2058493148","https://openalex.org/W2059378857","https://openalex.org/W2059747280","https://openalex.org/W2065664525","https://openalex.org/W2066244883","https://openalex.org/W2066604995","https://openalex.org/W2068555261","https://openalex.org/W2068892354","https://openalex.org/W2069326021","https://openalex.org/W2070124473","https://openalex.org/W2072451938","https://openalex.org/W2075266560","https://openalex.org/W2075978518","https://openalex.org/W2076024279","https://openalex.org/W2076195442","https://openalex.org/W2076935230","https://openalex.org/W2079037594","https://openalex.org/W2081098333","https://openalex.org/W2081372483","https://openalex.org/W2082331198","https://openalex.org/W2082688914","https://openalex.org/W2084555886","https://openalex.org/W2085980330","https://openalex.org/W2086129324","https://openalex.org/W2087545975","https://openalex.org/W2088104961","https://openalex.org/W2088414266","https://openalex.org/W2092152920","https://openalex.org/W2094644439","https://openalex.org/W2098189012","https://openalex.org/W2098215003","https://openalex.org/W2099057163","https://openalex.org/W2099395323","https://openalex.org/W2100668965","https://openalex.org/W2101272773","https://openalex.org/W2101338233","https://openalex.org/W2101540252","https://openalex.org/W2101879059","https://openalex.org/W2102900043","https://openalex.org/W2103244521","https://openalex.org/W2104718696","https://openalex.org/W2105236768","https://openalex.org/W2105341799","https://openalex.org/W2105937199","https://openalex.org/W2106602966","https://openalex.org/W2107997405","https://openalex.org/W2108479829","https://openalex.org/W2110065044","https://openalex.org/W2110394707","https://openalex.org/W2111402466","https://openalex.org/W2112253005","https://openalex.org/W2112775523","https://openalex.org/W2115338196","https://openalex.org/W2115494288","https://openalex.org/W2118508302","https://openalex.org/W2118823194","https://openalex.org/W2119457772","https://openalex.org/W2122683221","https://openalex.org/W2123077018","https://openalex.org/W2124058261","https://openalex.org/W2124676948","https://openalex.org/W2125955965","https://openalex.org/W2128123270","https://openalex.org/W2129660563","https://openalex.org/W2129701772","https://openalex.org/W2130029858","https://openalex.org/W2131964237","https://openalex.org/W2132125330","https://openalex.org/W2132485651","https://openalex.org/W2133051107","https://openalex.org/W2134318552","https://openalex.org/W2135514225","https://openalex.org/W2136749294","https://openalex.org/W2139213909","https://openalex.org/W2141765134","https://openalex.org/W2142667383","https://openalex.org/W2144312285","https://openalex.org/W2147718842","https://openalex.org/W2151365359","https://openalex.org/W2153867442","https://openalex.org/W2155316695","https://openalex.org/W2155771281","https://openalex.org/W2158127925","https://openalex.org/W2160120519","https://openalex.org/W2161446823","https://openalex.org/W2161797239","https://openalex.org/W2162225483","https://openalex.org/W2162654537","https://openalex.org/W2164311435","https://openalex.org/W2164638888","https://openalex.org/W2165167356","https://openalex.org/W2165468754","https://openalex.org/W2167675084","https://openalex.org/W2168713325","https://openalex.org/W2169516568","https://openalex.org/W2170005108","https://openalex.org/W2170115387","https://openalex.org/W2170526668","https://openalex.org/W2403466381","https://openalex.org/W2768600953","https://openalex.org/W4234837271","https://openalex.org/W4253292111"],"related_works":["https://openalex.org/W7134670449","https://openalex.org/W1976949137","https://openalex.org/W2200700354","https://openalex.org/W1964736947","https://openalex.org/W2401517553","https://openalex.org/W2004805159","https://openalex.org/W4405631638","https://openalex.org/W3021420986","https://openalex.org/W7054580173","https://openalex.org/W4394856670"],"abstract_inverted_index":{"Caract\u00e9risation":[0],"mol\u00e9culaire":[1,132],"des":[2,103,133,144,150],"cancers":[3],"du":[4,15,66,74,94,112,140],"rein":[5,16],"papillaires":[6],"de":[7,18,39,45,52,76,86,92,96,106,121,126,161,167,183,195,207,209,211,224],"type":[8,19],"2":[9,20],"h\u00e9r\u00e9ditaires":[10,135,152,177],"et":[11,32,88,102,136,153,178,243],"sporadiques":[12,179],"Le":[13,80,124],"cancer":[14,24],"papillaire":[17],"(PRCC2)":[21],"est":[22,47,59,203],"un":[23,28,219],"tr\u00e8s":[25],"agressif":[26],"avec":[27,255],"potentiel":[29],"m\u00e9tastatique":[30],"\u00e9lev\u00e9":[31],"pour":[33,238,252],"lequel":[34],"il":[35],"n\u2019y":[36],"a":[37,142,189],"pas":[38,159],"traitement":[40],"efficace.":[41],"La":[42],"forme":[43],"h\u00e9r\u00e9ditaire":[44,56],"PRCC2":[46,122,134,151,176],"associ\u00e9e":[48],"au":[49],"syndrome":[50],"rare":[51],"la":[53,78,130,184,193,204,248],"l\u00e9iomyomatose":[54],"cutan\u00e9o-ut\u00e9rine":[55],"(HLRCC).":[57],"HLRCC":[58],"due":[60],"\u00e0":[61],"une":[62,181,235],"mutation":[63,111],"germinale":[64],"h\u00e9t\u00e9rozygote":[65],"g\u00e8ne":[67,113],"Fumarate":[68],"Hydratase":[69],"(FH)":[70],"qui":[71],"code":[72],"l'enzyme":[73],"cycle":[75],"Krebs,":[77],"Fumarase.":[79],"d\u00e9ficit":[81],"en":[82],"fumarase":[83],"induit":[84],"l\u2019accumulation":[85],"fumarate":[87],"active":[89],"les":[90,119,147,174,239,253],"voies":[91],"signalisation":[93],"facteur":[95],"transcription":[97],"inductible":[98],"par":[99],"l\u2019hypoxie":[100],"(HIF)":[101],"esp\u00e8ces":[104],"r\u00e9actives":[105],"l\u2019oxyg\u00e8ne":[107],"(ROS).":[108],"N\u00e9anmoins,":[109],"aucune":[110],"FH":[114],"n\u2019a":[115],"\u00e9t\u00e9":[116,190],"rapport\u00e9e":[117],"dans":[118],"cas":[120],"sporadiques.":[123,137,154],"projet":[125],"recherche":[127],"porte":[128],"sur":[129],"caract\u00e9risation":[131],"Notre":[138],"analyse":[139],"transcriptome":[141],"identifi\u00e9":[143],"diff\u00e9rences":[145],"entre":[146],"signatures":[148],"mol\u00e9culaires":[149],"Cependant,":[155],"l\u2019\u00e9tude":[156],"d\u2019immunohistochimie":[157],"n'a":[158],"r\u00e9v\u00e9l\u00e9":[160,172],"biomarqueurs":[162],"potentiels.":[163],"Les":[164],"analyses":[165],"bio-informatiques":[166],"profils":[168],"d\u2019expression":[169],"g\u00e9nique":[170],"ont":[171],"que":[173,192],"tumeurs":[175],"partagent":[180],"d\u00e9r\u00e9gulation":[182],"voie":[185],"principale":[186],"NRF2/KEAP1.":[187],"Il":[188],"montr\u00e9":[191],"surexpression":[194],"AKR1B10":[196],"(Aldo-Keto":[197],"Reductase":[198],"Family":[199],"1":[200],"Membre":[201],"B10)":[202],"cons\u00e9quence":[205],"directe":[206],"l\u2019activation":[208],"l'\u00e9l\u00e9ment":[210],"r\u00e9ponse":[212],"antioxydant":[213],"(ARE).":[214],"Finalement,":[215],"nous":[216],"avons":[217],"\u00e9tabli":[218],"nouveau":[220],"mod\u00e8le":[221],"in":[222],"vitro":[223],"lign\u00e9e":[225],"cellulaire,":[226],"NCCFH1":[227,233],"(FH-/-),":[228],"issue":[229],"d\u2019un":[230],"patient":[231],"HLRCC.":[232],"repr\u00e9sente":[234],"plateforme":[236],"id\u00e9ale":[237],"\u00e9tudes":[240],"fonctionnelles,":[241],"m\u00e9taboliques":[242],"th\u00e9rapeutiques.":[244],"Bort\u00e9zomib":[245],"pourrait":[246],"\u00eatre":[247],"meilleure":[249],"alternative":[250],"th\u00e9rapeutique":[251],"patients":[254],"PRCC2.":[256]},"counts_by_year":[],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2026-04-02T00:00:00"}