{"id":"https://openalex.org/W232934358","doi":null,"title":"Cushing's disease preceded by generalized glucocorticoid resistance: clinical consequences of a novel, dominant-negative glucocorticoid receptor mutation.","display_name":"Cushing's disease preceded by generalized glucocorticoid resistance: clinical consequences of a novel, dominant-negative glucocorticoid receptor mutation.","publication_year":1996,"publication_date":"1996-07-01","ids":{"openalex":"https://openalex.org/W232934358","mag":"232934358","pmid":"https://pubmed.ncbi.nlm.nih.gov/8863343"},"language":"en","primary_location":{"id":"pmid:8863343","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8863343","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":"Proceedings of the Association of American Physicians","raw_type":"Case Reports"},"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":null,"display_name":"M Karl","orcid":null,"observed_orcids":[]},"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":false,"raw_author_name":"M Karl","raw_affiliation_strings":["Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892-1862, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892-1862, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210144228"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113453092","display_name":"Steven W. J. Lamberts","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S W Lamberts","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020686629","display_name":"J. W. Koper","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J W Koper","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087474720","display_name":"David A. Katz","orcid":"https://orcid.org/0000-0002-4400-5669","observed_orcids":["https://orcid.org/0000-0002-4400-5669"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"D A Katz","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039817163","display_name":"Nannette A. T. M. Huizenga","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"N E Huizenga","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060665424","display_name":"Tomoshige Kino","orcid":"https://orcid.org/0000-0003-0220-9396","observed_orcids":["https://orcid.org/0000-0003-0220-9396"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"T Kino","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108491622","display_name":"Bassem R. Haddad","orcid":"https://orcid.org/0000-0003-2679-3371","observed_orcids":["https://orcid.org/0000-0003-2679-3371"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"B R Haddad","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5105274609","display_name":"Mark R. Hughes","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M R Hughes","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5112687891","display_name":"G P Chrousos","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"G P Chrousos","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":5.0757,"has_fulltext":false,"cited_by_count":180,"citation_normalized_percentile":{"value":0.95762868,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"108","issue":"4","first_page":"296","last_page":"307"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10832","display_name":"Pituitary Gland Disorders and Treatments","score":0.4657999873161316,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T10832","display_name":"Pituitary Gland Disorders and Treatments","score":0.4657999873161316,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T12421","display_name":"Adrenal Hormones and Disorders","score":0.3285999894142151,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T10756","display_name":"Estrogen and related hormone effects","score":0.0868000015616417,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/cushing-disease","display_name":"Cushing's disease","score":0.8629999756813049},{"id":"https://openalex.org/keywords/glucocorticoid-receptor","display_name":"glucocorticoid receptor","score":0.8930000066757202},{"id":"https://openalex.org/keywords/dominant-negative-mutation","display_name":"dominant negative mutation","score":0.9139999747276306},{"id":"https://openalex.org/keywords/corticotroph-pituitary-adenoma","display_name":"corticotroph pituitary adenoma","score":0.9229999780654907},{"id":"https://openalex.org/keywords/hypothalamic-pituitary-adrenal-axis","display_name":"hypothalamic-pituitary-adrenal axis","score":0.9089999794960022},{"id":"https://openalex.org/keywords/infertility","display_name":"infertility","score":0.5799999833106995},{"id":"https://openalex.org/keywords/hypertension","display_name":"hypertension","score":0.9929999709129333},{"id":"https://openalex.org/keywords/glucocorticoid-negative-feedback","display_name":"glucocorticoid negative feedback","score":0.8550000190734863},{"id":"https://openalex.org/keywords/lymphocyte-binding","display_name":"lymphocyte binding","score":0.38999998569488525}],"concepts":[{"id":"https://openalex.org/C59493245","wikidata":"https://www.wikidata.org/wiki/Q14877410","display_name":"Glucocorticoid receptor","level":3,"score":0.7726765871047974},{"id":"https://openalex.org/C2780841215","wikidata":"https://www.wikidata.org/wiki/Q422549","display_name":"Glucocorticoid","level":2,"score":0.6834838390350342},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.6518458724021912},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5827394127845764},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5783272385597229},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.43479031324386597},{"id":"https://openalex.org/C177865409","wikidata":"https://www.wikidata.org/wiki/Q410784","display_name":"ACTH receptor","level":4,"score":0.4300290644168854},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.4266315996646881},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.21077391505241394},{"id":"https://openalex.org/C2780546910","wikidata":"https://www.wikidata.org/wiki/Q185690","display_name":"Adrenocorticotropic hormone","level":3,"score":0.19262626767158508},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.15446317195892334},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.14896538853645325},{"id":"https://openalex.org/C71315377","wikidata":"https://www.wikidata.org/wiki/Q11364","display_name":"Hormone","level":2,"score":0.08657753467559814}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002460","descriptor_name":"Cell Line","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002461","descriptor_name":"Cell Line, Transformed","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003480","descriptor_name":"Cushing Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003480","descriptor_name":"Cushing Syndrome","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D003907","descriptor_name":"Dexamethasone","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005500","descriptor_name":"Follow-Up Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005938","descriptor_name":"Glucocorticoids","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011965","descriptor_name":"Receptors, Glucocorticoid","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011965","descriptor_name":"Receptors, Glucocorticoid","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D013936","descriptor_name":"Thymidine","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D014316","descriptor_name":"Tritium","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016159","descriptor_name":"Tumor Suppressor Protein p53","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016159","descriptor_name":"Tumor Suppressor Protein p53","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D018076","descriptor_name":"DNA, Complementary","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019556","descriptor_name":"COS Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:8863343","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8863343","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":"Proceedings of the Association of American Physicians","raw_type":"Case Reports"},{"id":"mag:232934358","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8863343","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":[{"id":"https://metadata.un.org/sdg/3","score":0.98580002784729,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2155539407","https://openalex.org/W1531743772","https://openalex.org/W3006334961","https://openalex.org/W4253566291","https://openalex.org/W2134266632","https://openalex.org/W2095330426","https://openalex.org/W2800731591","https://openalex.org/W4211254118","https://openalex.org/W2106370522","https://openalex.org/W2038573597"],"abstract_inverted_index":{"Generalized":[0],"glucocorticoid":[1,15,26,51,81,217,227,248],"resistance":[2,27],"is":[3],"associated":[4],"with":[5,23,33,219],"chronic":[6,244],"hyperactivation":[7],"of":[8,49,56,100,116,128,164,171,177,192,215,243,261],"the":[9,50,80,98,101,117,159,175,184,188,193,216,240,259,262],"hypothalamic-pituitary-adrenal":[10],"axis,":[11],"compensating":[12],"for":[13,199],"impaired":[14],"receptor":[16,52,82,91,103,218],"function.":[17],"We":[18],"report":[19],"a":[20,54,74,93,178,208],"unique":[21],"patient":[22],"sporadic":[24,225],"generalized":[25,226],"who,":[28],"at":[29,38,252],"age":[30],"33,":[31],"presented":[32],"infertility":[34],"and":[35,121,145,156,195,251],"hypertension":[36],"and,":[37],"38,":[39],"developed":[40],"pituitary":[41,167],"Cushing's":[42],"disease.":[43],"Leukocyte-binding":[44],"studies":[45],"revealed":[46,169],"normal":[47],"affinity":[48],"but":[53],"reduction":[55],"binding":[57],"sites":[58],"by":[59,63,70,133],"50%.":[60],"[3H]thymidine":[61],"incorporation":[62],"this":[64,165],"patient's":[65,118,166],"lymphocytes":[66],"was":[67,112,139,151,237],"not":[68,140,203],"suppressible":[69],"dexamethasone.":[71],"He":[72],"had":[73],"novel":[75,149,209],"heterozygous":[76],"missense":[77],"mutation":[78,111,150,182,214],"in":[79,108,114,126,142,158,183,187,258],"gene":[83,106,186],"(isoleucine":[84],"559":[85],"to":[86,104,239],"asparagine":[87],"559).":[88],"The":[89,110,234],"mutant":[90],"exhibited":[92],"strong":[94,220],"dominant-negative":[95,221],"effect":[96],"on":[97],"ability":[99],"wild-type":[102],"induce":[105],"transcription":[107],"vitro.":[109],"present":[113,141,157],"all":[115],"cultured":[119],"lymphoblasts":[120],"fibroblasts":[122],"as":[123,125,131],"well":[124],"50%":[127],"his":[129,143],"sperm,":[130],"demonstrated":[132],"single-cell":[134],"polymerase":[135],"chain":[136],"reaction;":[137],"it":[138],"parents":[144],"seven":[146],"siblings.":[147],"This":[148],"thus":[152],"both":[153],"de":[154,210],"novo":[155,211],"germ":[160,212],"line.":[161],"Immunohistochemical":[162],"staining":[163],"corticotropinoma":[168],"accumulation":[170],"p53":[172,185,200],"protein,":[173],"indicating":[174],"presence":[176],"putative":[179],"somatic":[180,256],"oncogenic":[181],"tumor":[189],"cells.":[190],"Investigation":[191],"lymphoblast":[194],"skin":[196],"fibroblast":[197],"cultures":[198],"abnormalities":[201],"did":[202],"show":[204],"any":[205],"aberration.":[206],"Thus,":[207],"line":[213],"activity":[222],"caused":[223],"severe":[224],"resistance,":[228],"which":[229],"preceded":[230],"corticotroph":[231,245],"adenoma":[232],"formation.":[233],"latter":[235],"probably":[236],"due":[238],"combined":[241],"effects":[242],"hyperstimulation,":[246],"decreased":[247],"negative":[249],"feedback,":[250],"least":[253],"one":[254],"subsequent":[255],"defect":[257],"control":[260],"cell":[263],"cycle.":[264]},"counts_by_year":[{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":6},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":11},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":6},{"year":2015,"cited_by_count":12},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":7},{"year":2012,"cited_by_count":6}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
