{"id":"https://openalex.org/W57768348","doi":null,"title":"Molecular pathology of Birt-Hogg-Dub\u00e9 Syndrome","display_name":"Molecular pathology of Birt-Hogg-Dub\u00e9 Syndrome","publication_year":2014,"publication_date":"2014-07-01","ids":{"openalex":"https://openalex.org/W57768348","mag":"57768348"},"language":"en","primary_location":{"id":"pmh:oai:etheses.bham.ac.uk:5075","doi":null,"is_oa":false,"landing_page_url":"http://etheses.bham.ac.uk/5075/1/Fenton14MPhil.pdf","pdf_url":"http://etheses.bham.ac.uk/5075/1/Fenton14MPhil.pdf","source":{"id":"https://openalex.org/S4306402357","display_name":"University of Birmingham Institutional Research Archive (University of Birmingham)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I79619799","host_organization_name":"University of Birmingham","host_organization_lineage":["https://openalex.org/I79619799"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"","raw_type":"Thesis"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"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/A5110967772","display_name":"Janine C. Fenton","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Janine Fenton","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5110967772"],"corresponding_institution_ids":[],"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":0.6704000234603882,"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":0.6704000234603882,"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/T12049","display_name":"Tuberous Sclerosis Complex Research","score":0.12620000541210175,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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":0.09040000289678574,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/birt-hogg-dube-syndrome","display_name":"Birt-Hogg-Dub\u00e9 syndrome","score":1.0},{"id":"https://openalex.org/keywords/renal-cell-carcinoma","display_name":"renal cell carcinoma","score":0.9269999861717224},{"id":"https://openalex.org/keywords/mithramycin","display_name":"mithramycin","score":0.847000002861023},{"id":"https://openalex.org/keywords/rapamycin","display_name":"rapamycin","score":0.9940000176429749},{"id":"https://openalex.org/keywords/targeted-therapy","display_name":"targeted therapy","score":0.7329999804496765},{"id":"https://openalex.org/keywords/growth-inhibitors","display_name":"growth inhibitors","score":0.4269999861717224},{"id":"https://openalex.org/keywords/drug-selectivity","display_name":"drug selectivity","score":0.5260000228881836},{"id":"https://openalex.org/keywords/clonogenic-survival","display_name":"clonogenic survival","score":0.8309999704360962},{"id":"https://openalex.org/keywords/kidney-cancer-risk","display_name":"kidney cancer risk","score":0.6209999918937683}],"concepts":[{"id":"https://openalex.org/C97329493","wikidata":"https://www.wikidata.org/wiki/Q18053203","display_name":"Folliculin","level":3,"score":0.9938182830810547},{"id":"https://openalex.org/C2777055284","wikidata":"https://www.wikidata.org/wiki/Q2532540","display_name":"Birt\u2013Hogg\u2013Dub\u00e9 syndrome","level":3,"score":0.8951220512390137},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.598699688911438},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.4519035220146179},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.43887677788734436},{"id":"https://openalex.org/C81885089","wikidata":"https://www.wikidata.org/wiki/Q189082","display_name":"Cell culture","level":2,"score":0.42011696100234985},{"id":"https://openalex.org/C62112901","wikidata":"https://www.wikidata.org/wiki/Q189159","display_name":"Cell growth","level":2,"score":0.41059380769729614},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.38859128952026367},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.3217740058898926},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.30492305755615234},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.20195841789245605},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.13395804166793823},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.10876220464706421},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.07861831784248352},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.05162665247917175},{"id":"https://openalex.org/C2778329176","wikidata":"https://www.wikidata.org/wiki/Q203601","display_name":"Pneumothorax","level":2,"score":0.0}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:oai:etheses.bham.ac.uk:5075","doi":null,"is_oa":false,"landing_page_url":"http://etheses.bham.ac.uk/5075/1/Fenton14MPhil.pdf","pdf_url":"http://etheses.bham.ac.uk/5075/1/Fenton14MPhil.pdf","source":{"id":"https://openalex.org/S4306402357","display_name":"University of Birmingham Institutional Research Archive (University of Birmingham)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I79619799","host_organization_name":"University of Birmingham","host_organization_lineage":["https://openalex.org/I79619799"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"","raw_type":"Thesis"},{"id":"mag:57768348","doi":null,"is_oa":false,"landing_page_url":"https://etheses.bham.ac.uk/id/eprint/5075/","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":0.98580002784729}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":25,"referenced_works":["https://openalex.org/W63256203","https://openalex.org/W1516453787","https://openalex.org/W1543577342","https://openalex.org/W1749022239","https://openalex.org/W1969989556","https://openalex.org/W1981403280","https://openalex.org/W1985370440","https://openalex.org/W2010160635","https://openalex.org/W2039788746","https://openalex.org/W2050069313","https://openalex.org/W2082024168","https://openalex.org/W2082134867","https://openalex.org/W2086327073","https://openalex.org/W2096426595","https://openalex.org/W2098136315","https://openalex.org/W2100669312","https://openalex.org/W2101447126","https://openalex.org/W2108993022","https://openalex.org/W2116821087","https://openalex.org/W2122410033","https://openalex.org/W2123914905","https://openalex.org/W2143813821","https://openalex.org/W2149828323","https://openalex.org/W2256296785","https://openalex.org/W2470466748"],"related_works":["https://openalex.org/W2121148343","https://openalex.org/W7096411148","https://openalex.org/W1989810277","https://openalex.org/W2035360179","https://openalex.org/W2247166227","https://openalex.org/W135314048","https://openalex.org/W2055197266","https://openalex.org/W2180416750","https://openalex.org/W2184451833","https://openalex.org/W2934981315"],"abstract_inverted_index":{"Autosomal":[0],"dominantly":[1],"inherited":[2],"mutations":[3],"in":[4,68,79,93,110,125,133,162,193],"the":[5,24,42,60,64,69,76,80],"folliculin":[6],"(FLCN)":[7],"gene":[8],"lead":[9],"to":[10,144,148,153],"Birt-Hogg-Dub\u00e9":[11],"syndrome":[12],"(BHD),":[13],"which":[14,126],"is":[15],"associated":[16,34],"with":[17,83,99,114],"increased":[18,173],"risk":[19],"of":[20,26,45,86,168,185],"kidney":[21],"cancer.":[22],"With":[23],"aim":[25],"better":[27],"understanding":[28],"and":[29,32,100,136],"treating":[30],"BHD":[31],"its":[33],"renal":[35],"cell":[36,71,81,97],"carcinoma":[37],"(RCC)":[38],"this":[39],"study":[40],"analyzes":[41],"potential":[43],"use":[44],"tumour":[46],"growth":[47,109],"inhibitors":[48],"selective":[49],"for":[50,177,191],"FLCN-defective":[51],"cells.":[52,116,139],"Fifteen":[53],"compounds":[54,66,107],"have":[55],"been":[56],"initially":[57],"selected":[58],"using":[59],"COMPARE":[61],"algorithm":[62],"from":[63],"chemotherapeutic":[65],"tested":[67],"NCI-60":[70],"lines":[72,82,98],"panel":[73],"based":[74],"on":[75],"highest":[77],"toxicity":[78],"low":[84],"level":[85],"FLCN":[87,103,134,149,178],"expression.":[88],"Growth":[89],"inhibition":[90],"assays":[91],"performed":[92],"a":[94,127,188],"paired":[95],"RCC":[96,192],"without":[101],"active":[102],"confirmed":[104],"that":[105],"seven":[106],"decreased":[108],"FLCN-null":[111],"cells":[112,151,156],"compared":[113],"FLCN-wt":[115],"The":[117],"greatest":[118],"inhibitory":[119,175],"selectivity":[120,176],"was":[121,141],"induced":[122],"by":[123,157],"mithramycin":[124,186],"10-fold":[128],"difference":[129],"between":[130],"GI50":[131],"values":[132],"negative":[135,150],"positive":[137],"UOK257":[138,155],"Mithramycin":[140],"also":[142],"shown":[143],"be":[145],"more":[146],"cytotoxic":[147],"than":[152],"FLCN-positive":[154],"10":[158],"fold":[159],"(at":[160],"200nM),":[161],"clonogenic":[163],"survival":[164],"assays.":[165],"Low":[166],"doses":[167],"rapamycin":[169],"(1":[170],"nM)":[171],"further":[172,183],"mithramycin's":[174],"mutant":[179],"UOK":[180],"cells,":[181],"encouraging":[182],"investigation":[184],"as":[187],"molecularly-targeted":[189],"therapy":[190],"BHD.":[194]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}