{"id":"https://openalex.org/W2397767050","doi":null,"title":"Genetics of adrenocortical tumors: Carney complex.","display_name":"Genetics of adrenocortical tumors: Carney complex.","publication_year":2001,"publication_date":"2001-04-01","ids":{"openalex":"https://openalex.org/W2397767050","mag":"2397767050","pmid":"https://pubmed.ncbi.nlm.nih.gov/11353891"},"language":"en","primary_location":{"id":"pmid:11353891","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11353891","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":"Annales d'endocrinologie","raw_type":"Journal Article"},"volume":null,"type":"article","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/A5031897654","display_name":"Constantine A. Stratakis","orcid":"https://orcid.org/0000-0002-4058-5520","observed_orcids":["https://orcid.org/0000-0002-4058-5520"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210144228","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210144228"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"C A Stratakis","raw_affiliation_strings":["Unit on Genetics and Endocrinology, DEB, NICHD, NIH, Building 10, Room 10N262, 10 Center Dr. MSC1862, Bethesda, Maryland 20892-1862, USA. stratakc@cc1.nichd.nih.gov"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit on Genetics and Endocrinology, DEB, NICHD, NIH, Building 10, Room 10N262, 10 Center Dr. MSC1862, Bethesda, Maryland 20892-1862, USA. stratakc@cc1.nichd.nih.gov","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210144228"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5031897654"],"corresponding_institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210144228"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":18,"citation_normalized_percentile":{"value":0.33797178,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"62","issue":"2","first_page":"180","last_page":"4"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11054","display_name":"Adrenal and Paraganglionic Tumors","score":0.9878000020980835,"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"}},"topics":[{"id":"https://openalex.org/T11054","display_name":"Adrenal and Paraganglionic Tumors","score":0.9878000020980835,"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"}},{"id":"https://openalex.org/T12820","display_name":"Chromatin Remodeling and Cancer","score":0.000699999975040555,"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/T11369","display_name":"Genetic factors in colorectal cancer","score":0.000699999975040555,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic 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/carney-complex","display_name":"Carney complex","score":0.9940000176429749},{"id":"https://openalex.org/keywords/adrenocortical-tumors","display_name":"adrenocortical tumors","score":0.8949999809265137},{"id":"https://openalex.org/keywords/adrenal-cancer","display_name":"adrenal cancer","score":0.5239999890327454},{"id":"https://openalex.org/keywords/adrenal-incidentaloma","display_name":"adrenal incidentaloma","score":0.7749999761581421},{"id":"https://openalex.org/keywords/positional-cloning","display_name":"positional cloning","score":0.8159999847412109},{"id":"https://openalex.org/keywords/prkar1a","display_name":"PRKAR1A","score":0.8640000224113464},{"id":"https://openalex.org/keywords/tp53","display_name":"TP53","score":0.8479999899864197},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.8479999899864197},{"id":"https://openalex.org/keywords/genetic-loci","display_name":"genetic loci","score":0.527999997138977}],"concepts":[{"id":"https://openalex.org/C2777108446","wikidata":"https://www.wikidata.org/wiki/Q1044007","display_name":"Carney complex","level":3,"score":0.8633697032928467},{"id":"https://openalex.org/C2781399356","wikidata":"https://www.wikidata.org/wiki/Q918285","display_name":"Adrenocortical carcinoma","level":2,"score":0.7745580673217773},{"id":"https://openalex.org/C555283112","wikidata":"https://www.wikidata.org/wiki/Q1637543","display_name":"Carcinogenesis","level":3,"score":0.6557828187942505},{"id":"https://openalex.org/C3020804800","wikidata":"https://www.wikidata.org/wiki/Q5050812","display_name":"Positional cloning","level":4,"score":0.6436780095100403},{"id":"https://openalex.org/C2779399171","wikidata":"https://www.wikidata.org/wiki/Q1483951","display_name":"Malignancy","level":2,"score":0.643191397190094},{"id":"https://openalex.org/C2777977426","wikidata":"https://www.wikidata.org/wiki/Q19065","display_name":"Adrenal cortex","level":2,"score":0.559440016746521},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5484212636947632},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4658995568752289},{"id":"https://openalex.org/C2778674399","wikidata":"https://www.wikidata.org/wiki/Q4684749","display_name":"Adrenocortical adenoma","level":3,"score":0.449073851108551},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.4204694628715515},{"id":"https://openalex.org/C2777581072","wikidata":"https://www.wikidata.org/wiki/Q987319","display_name":"Secondary hypertension","level":3,"score":0.4141281247138977},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3901427090167999},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.24330586194992065},{"id":"https://openalex.org/C2777428134","wikidata":"https://www.wikidata.org/wiki/Q272741","display_name":"Adenoma","level":2,"score":0.19331151247024536},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.13817396759986877},{"id":"https://openalex.org/C84393581","wikidata":"https://www.wikidata.org/wiki/Q82642","display_name":"Blood pressure","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000303","descriptor_name":"Adrenal Cortex Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000306","descriptor_name":"Adrenal Cortex Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006338","descriptor_name":"Heart Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008967","descriptor_name":"Molecular Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009232","descriptor_name":"Myxoma","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009377","descriptor_name":"Multiple Endocrine Neoplasia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010859","descriptor_name":"Pigmentation Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:11353891","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11353891","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":"Annales d'endocrinologie","raw_type":"Journal Article"},{"id":"mag:2397767050","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11353891","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","id":"https://metadata.un.org/sdg/3","score":0.98580002784729}],"sustainable_development_goals_aurora":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8700000047683716}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2122919337","https://openalex.org/W2774388711","https://openalex.org/W2071861522","https://openalex.org/W2062637564","https://openalex.org/W2078720930","https://openalex.org/W2001883919","https://openalex.org/W1994084738","https://openalex.org/W3026523752","https://openalex.org/W2093790639","https://openalex.org/W1990649284"],"abstract_inverted_index":{"Adrenal":[0],"cancer":[1,55,67,261],"is":[2,26,76,136,188,244,266],"a":[3,17,93,170],"rare":[4],"neoplasm;":[5],"however,":[6],"up":[7],"to":[8,51,96,138],"1":[9,11],"in":[10,41,47,78,98,159,177,190,248],"500":[12],"adrenal":[13,42,54],"incidentalomas":[14],"may":[15],"hide":[16],"carcinoma,":[18],"which,":[19],"if":[20],"diagnosed":[21],"late":[22],"or":[23,71,181],"left":[24],"untreated,":[25],"associated":[27],"with":[28],"significant":[29,45],"morbidity":[30],"and":[31,44,227,237,250],"mortality.":[32],"Despite":[33],"extensive":[34],"investigation":[35,61],"of":[36,62,65,81,104,131,150,156,184,240,259,272],"the":[37,60,63,69,79,102,105,111,128,140,148,154,160,197,238,257,270],"molecular":[38],"mechanisms":[39],"involved":[40],"carcinogenesis":[43],"improvements":[46],"diagnostic":[48],"imaging,":[49],"efforts":[50],"cure":[52],"advanced":[53],"remain":[56],"largely":[57],"unsuccessful.":[58],"Thus,":[59,134],"genetics":[64,258,271],"adrenocortical":[66,90,106,132,167,173,260],"by":[68,206,264],"candidate":[70],"positional":[72,207],"cloning":[73,208],"gene":[74,124],"approach":[75],"essential":[77,137],"development":[80],"new":[82],"therapies":[83],"for":[84,200,219],"this":[85,151,201],"disease.":[86],"We":[87,162],"propose":[88],"that":[89,97,114,144],"tumorigenesis":[91,158],"follows":[92],"pattern":[94],"similar":[95],"other":[99,241],"organs:":[100],"As":[101],"pathology":[103],"tumor":[107],"increases":[108],"towards":[109],"malignancy,":[110],"genetic":[112,120,215],"changes":[113],"are":[115,145],"observed":[116],"also":[117],"increase.":[118],"Known":[119],"associations,":[121],"like":[122],"TP53":[123],"changes,":[125],"occur":[126],"during":[127],"latest":[129],"stages":[130,155],"tumorigenesis.":[133],"it":[135],"study":[139],"relatively":[141],"few":[142],"genes":[143,218,243],"affected":[146],"at":[147,153],"beginning":[149],"process,":[152],"benign":[157],"cortex.":[161],"have":[163,212],"studied":[164],"primary":[165],"pigmented":[166],"disease":[168],"(PPNAD),":[169],"benign,":[171],"bilateral,":[172],"hyperplasia,":[174],"which":[175],"either":[176],"its":[178],"isolated":[179],"form":[180],"as":[182],"part":[183],"Carney":[185],"complex":[186],"(CNC),":[187],"inherited":[189],"an":[191],"autosomal":[192],"dominant":[193],"manner":[194],"and,":[195],"therefore,":[196],"gene(s)":[198],"responsible":[199,242],"disorder":[202],"could":[203],"be":[204],"identified":[205,213],"approaches.":[209],"Indeed,":[210],"we":[211],"two":[214],"loci":[216,225],"harboring":[217],"PPNAD":[220,273],"and/or":[221,274],"CNC":[222],"on":[223],"chromosomal":[224],"2p16":[226],"17q22-24.":[228],"The":[229,253],"chromosome":[230],"17":[231],"gene,":[232],"PRKAR1A,":[233],"was":[234],"recently":[235],"cloned":[236],"identification":[239],"currently":[245],"under":[246],"way":[247],"our,":[249],"collaborating":[251],"laboratories.":[252],"present":[254],"report":[255],"reviews":[256],"first,":[262],"followed":[263],"what":[265],"known":[267],"today":[268],"about":[269],"CNC.":[275]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":1},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
