{"id":"https://openalex.org/W2148455178","doi":null,"title":"Inactivation of BHD in sporadic renal tumors.","display_name":"Inactivation of BHD in sporadic renal tumors.","publication_year":2003,"publication_date":"2003-08-01","ids":{"openalex":"https://openalex.org/W2148455178","mag":"2148455178","pmid":"https://pubmed.ncbi.nlm.nih.gov/12907635"},"language":"en","primary_location":{"id":"pmid:12907635","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12907635","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":"Cancer research","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"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/A5002345978","display_name":"Sok Kean Khoo","orcid":"https://orcid.org/0000-0003-3836-5497","observed_orcids":["https://orcid.org/0000-0003-3836-5497"]},"institutions":[{"id":"https://openalex.org/I1317189400","display_name":"Van Andel Institute","ror":"https://ror.org/00wm07d60","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I1317189400"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sok Kean Khoo","raw_affiliation_strings":["Laboratory of Cancer Genetics, Van Andel Research Institute, 333 Bostwick Avenue N.E., Grand Rapids, MI 49503, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Cancer Genetics, Van Andel Research Institute, 333 Bostwick Avenue N.E., Grand Rapids, MI 49503, USA","institution_ids":["https://openalex.org/I1317189400"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004760314","display_name":"Katherine Kahnoski","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Katherine Kahnoski","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031072475","display_name":"Jun Sugimura","orcid":"https://orcid.org/0000-0003-3587-5395","observed_orcids":["https://orcid.org/0000-0003-3587-5395"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jun Sugimura","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073091988","display_name":"David Petillo","orcid":"https://orcid.org/0000-0001-7234-4644","observed_orcids":["https://orcid.org/0000-0001-7234-4644"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"David Petillo","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101933322","display_name":"Jindong Chen","orcid":"https://orcid.org/0000-0003-4253-6850","observed_orcids":["https://orcid.org/0000-0003-4253-6850"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jindong Chen","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Ken Shockley","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ken Shockley","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109241005","display_name":"John W. Ludlow","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"John Ludlow","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Robert Knapp","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Robert Knapp","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108064123","display_name":"Sophie Giraud","orcid":"https://orcid.org/0000-0003-1243-3084","observed_orcids":["https://orcid.org/0000-0003-1243-3084","https://orcid.org/0009-0002-2350-3906"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Sophie Giraud","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"St\u00e9phane Richard","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"St\u00e9phane Richard","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022577576","display_name":"Magnus Nordenskj\u00f6ld","orcid":"https://orcid.org/0000-0002-4974-425X","observed_orcids":["https://orcid.org/0000-0002-4974-425X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Magnus Nordenskj\u00f6ld","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5039053890","display_name":"Bin Tean Teh","orcid":"https://orcid.org/0000-0003-1514-1124","observed_orcids":["https://orcid.org/0000-0003-1514-1124"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Bin Tean Teh","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":7.1663,"has_fulltext":false,"cited_by_count":142,"citation_normalized_percentile":{"value":0.97835527,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":100},"biblio":{"volume":"63","issue":"15","first_page":"4583","last_page":"7"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10449","display_name":"Renal cell carcinoma treatment","score":0.9467999935150146,"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":0.9467999935150146,"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":0.02539999969303608,"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/T11054","display_name":"Adrenal and Paraganglionic Tumors","score":0.00570000009611249,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/birt-hogg-dube-syndrome","display_name":"Birt-Hogg-Dub\u00e9 syndrome","score":0.8980000019073486},{"id":"https://openalex.org/keywords/renal-cell-carcinoma","display_name":"renal cell carcinoma","score":0.8299999833106995},{"id":"https://openalex.org/keywords/renal-oncocytoma","display_name":"renal oncocytoma","score":0.9150000214576721},{"id":"https://openalex.org/keywords/chromophobe-renal-cell-carcinoma","display_name":"chromophobe renal cell carcinoma","score":0.9210000038146973},{"id":"https://openalex.org/keywords/papillary-renal-cell-carcinoma","display_name":"papillary renal cell carcinoma","score":0.9919999837875366},{"id":"https://openalex.org/keywords/clear-cell-renal-cell-carcinoma","display_name":"clear cell renal cell carcinoma","score":0.996999979019165},{"id":"https://openalex.org/keywords/somatic-mutations","display_name":"somatic mutations","score":0.8690000176429749},{"id":"https://openalex.org/keywords/loss-of-heterozygosity","display_name":"loss of heterozygosity","score":0.984000027179718},{"id":"https://openalex.org/keywords/promoter-methylation","display_name":"promoter methylation","score":0.9589999914169312},{"id":"https://openalex.org/keywords/gene-inactivation","display_name":"gene inactivation","score":0.7789999842643738}],"concepts":[{"id":"https://openalex.org/C78795084","wikidata":"https://www.wikidata.org/wiki/Q5113900","display_name":"Chromophobe cell","level":4,"score":0.9214409589767456},{"id":"https://openalex.org/C143589142","wikidata":"https://www.wikidata.org/wiki/Q2617554","display_name":"Loss of heterozygosity","level":4,"score":0.7518903613090515},{"id":"https://openalex.org/C555283112","wikidata":"https://www.wikidata.org/wiki/Q1637543","display_name":"Carcinogenesis","level":3,"score":0.6855269074440002},{"id":"https://openalex.org/C2778560582","wikidata":"https://www.wikidata.org/wiki/Q18347894","display_name":"Clear cell","level":3,"score":0.6586613059043884},{"id":"https://openalex.org/C33288867","wikidata":"https://www.wikidata.org/wiki/Q518328","display_name":"Methylation","level":3,"score":0.6239561438560486},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.5797069072723389},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.546505331993103},{"id":"https://openalex.org/C2780091579","wikidata":"https://www.wikidata.org/wiki/Q9377","display_name":"Kidney","level":2,"score":0.5090388655662537},{"id":"https://openalex.org/C2776531350","wikidata":"https://www.wikidata.org/wiki/Q16877679","display_name":"Papillary renal cell carcinomas","level":3,"score":0.5083698630332947},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.4779077470302582},{"id":"https://openalex.org/C2781068499","wikidata":"https://www.wikidata.org/wiki/Q3242950","display_name":"Kidney cancer","level":3,"score":0.43506431579589844},{"id":"https://openalex.org/C2781278892","wikidata":"https://www.wikidata.org/wiki/Q18556340","display_name":"Clear cell renal cell carcinoma","level":3,"score":0.42968690395355225},{"id":"https://openalex.org/C190727270","wikidata":"https://www.wikidata.org/wiki/Q874745","display_name":"DNA methylation","level":4,"score":0.41737306118011475},{"id":"https://openalex.org/C2777472916","wikidata":"https://www.wikidata.org/wiki/Q1164529","display_name":"Renal cell carcinoma","level":2,"score":0.4112318754196167},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.3460937738418579},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.21997812390327454},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1614457666873932},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.13934168219566345},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.12494918704032898},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.0732070803642273},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.05442723631858826}],"mesh":[{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002291","descriptor_name":"Carcinoma, Papillary","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002292","descriptor_name":"Carcinoma, Renal Cell","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007680","descriptor_name":"Kidney Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011401","descriptor_name":"Promoter Regions, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011518","descriptor_name":"Proto-Oncogene Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014407","descriptor_name":"Tumor Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015972","descriptor_name":"Gene Expression Regulation, Neoplastic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018249","descriptor_name":"Adenoma, Oxyphilic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018262","descriptor_name":"Adenocarcinoma, Clear Cell","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018899","descriptor_name":"CpG Islands","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D019175","descriptor_name":"DNA Methylation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019656","descriptor_name":"Loss of Heterozygosity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020868","descriptor_name":"Gene Silencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D025521","descriptor_name":"Tumor Suppressor Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:12907635","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12907635","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":"Cancer research","raw_type":"Journal Article"},{"id":"mag:2148455178","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12907635","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9476000070571899,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":45,"referenced_works":["https://openalex.org/W15453418","https://openalex.org/W1514961004","https://openalex.org/W1531710418","https://openalex.org/W1537700532","https://openalex.org/W1561739127","https://openalex.org/W1689569903","https://openalex.org/W1799059665","https://openalex.org/W1824107816","https://openalex.org/W1883670734","https://openalex.org/W1967291345","https://openalex.org/W1972778466","https://openalex.org/W1984004239","https://openalex.org/W1984680322","https://openalex.org/W1985370440","https://openalex.org/W1994392337","https://openalex.org/W1994465394","https://openalex.org/W1995643652","https://openalex.org/W1995684639","https://openalex.org/W1997230126","https://openalex.org/W2010160635","https://openalex.org/W2019573100","https://openalex.org/W2032052263","https://openalex.org/W2041136483","https://openalex.org/W2041592237","https://openalex.org/W2044573147","https://openalex.org/W2054823635","https://openalex.org/W2068555261","https://openalex.org/W2072603644","https://openalex.org/W2084118479","https://openalex.org/W2084748297","https://openalex.org/W2091658754","https://openalex.org/W2094659848","https://openalex.org/W2098029947","https://openalex.org/W2101628607","https://openalex.org/W2106582614","https://openalex.org/W2132463881","https://openalex.org/W2140214342","https://openalex.org/W2148898638","https://openalex.org/W2150162153","https://openalex.org/W2153782423","https://openalex.org/W2163614715","https://openalex.org/W2169619819","https://openalex.org/W2324602958","https://openalex.org/W2399880284","https://openalex.org/W2493972660"],"related_works":["https://openalex.org/W2149828323","https://openalex.org/W1971568000","https://openalex.org/W7098938047","https://openalex.org/W2096426595","https://openalex.org/W2085848275","https://openalex.org/W2792045064","https://openalex.org/W4242628768","https://openalex.org/W4376273537","https://openalex.org/W2189157535","https://openalex.org/W4390636092"],"abstract_inverted_index":{"Studies":[0],"of":[1,19,23,27,34,45,88,97,100,106,112,118,126,141,143,151,158,164,170,177,251,254],"families":[2],"with":[3,185],"Birt-Hogg-Dub\u00e9":[4],"syndrome":[5],"(BHD)":[6],"have":[7],"recently":[8],"revealed":[9],"protein-truncating":[10],"mutations":[11,70,207],"in":[12,36,77,81,149,195,210,247,261],"the":[13,20,32,144,222,248],"BHD":[14,35,69,130,206,218,244],"gene,":[15],"leading":[16],"to":[17],"tumorigenesis":[18],"skin":[21],"and":[22,61,71,175,191,217,238],"different":[24,46],"cell":[25,47,55,64,122,181,199,242],"types":[26,253],"kidney.":[28],"To":[29],"additionally":[30],"evaluate":[31],"role":[33,260],"kidney":[37,197,233,262],"tumorigenesis,":[38],"we":[39],"studied":[40],"39":[41,152],"sporadic":[42,154,211],"renal":[43,50,54,128,155,161,212,255],"tumors":[44,184],"types:":[48],"7":[49,159],"oncocytomas,":[51,162],"9":[52,165,196],"chromophobe":[53,109,167],"carcinomas":[56],"(RCCs),":[57],"11":[58,150,171],"papillary":[59,83,115,173],"RCCs,":[60,110,116,123,168,174],"12":[62,119,178],"clear":[63,121,180],"RCCs.":[65,182],"We":[66,85],"screened":[67],"for":[68],"identified":[72],"a":[73,82,137],"novel":[74],"somatic":[75,205],"mutation":[76],"exon":[78],"13:":[79],"c.1939_1966delinsT":[80],"RCC.":[84],"performed":[86],"loss":[87],"heterozygosity":[89],"(LOH)":[90],"analysis":[91],"on":[92],"28":[93,101],"matched":[94],"normal/tumor":[95],"sets,":[96],"which":[98,240],"10":[99],"(36%)":[102,172],"demonstrated":[103],"LOH:":[104],"2":[105,157],"6":[107,113],"(33%)":[108,179],"5":[111],"(83%)":[114],"3":[117],"(25%)":[120],"but":[124],"0":[125],"4":[127,169,176],"oncocytomas.":[129],"promoter":[131,219],"methylation":[132,186,192],"status":[133],"was":[134,147],"examined":[135],"by":[136],"methylation-specific":[138],"PCR":[139],"assay":[140],"all":[142],"tumors.":[145,213],"Methylation":[146],"detected":[148],"(28%)":[153],"tumors:":[156],"(29%)":[160],"1":[163],"(11%)":[166],"Five":[183],"also":[187],"exhibited":[188],"LOH.":[189],"Mutation":[190],"were":[193],"absent":[194],"cancer":[198,263],"lines.":[200],"Our":[201],"results":[202],"showed":[203],"that":[204],"are":[208,221,241],"rare":[209],"The":[214],"alternatives,":[215],"LOH":[216],"methylation,":[220],"two":[223],"possible":[224],"inactivating":[225],"mechanisms":[226],"involved.":[227],"In":[228],"conclusion,":[229],"unlike":[230],"other":[231],"hereditary":[232],"cancer-related":[234],"genes":[235],"(i.e.,":[236],"VHL":[237],"MET),":[239],"type-specific,":[243],"is":[245],"involved":[246],"entire":[249],"spectrum":[250],"histological":[252],"tumors,":[256],"suggesting":[257],"its":[258],"major":[259],"tumorigenesis.":[264]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":5},{"year":2015,"cited_by_count":7},{"year":2014,"cited_by_count":5},{"year":2013,"cited_by_count":6},{"year":2012,"cited_by_count":15}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}