{"id":"https://openalex.org/W2137899652","doi":"https://doi.org/10.1210/jc.87.6.2658","title":"A Novel, C-Terminal Dominant Negative Mutation of the GR Causes Familial Glucocorticoid Resistance through Abnormal Interactions with p160 Steroid Receptor Coactivators","display_name":"A Novel, C-Terminal Dominant Negative Mutation of the GR Causes Familial Glucocorticoid Resistance through Abnormal Interactions with p160 Steroid Receptor Coactivators","publication_year":2002,"publication_date":"2002-06-01","ids":{"openalex":"https://openalex.org/W2137899652","doi":"https://doi.org/10.1210/jc.87.6.2658","mag":"2137899652","pmid":"https://pubmed.ncbi.nlm.nih.gov/12050230"},"language":"en","primary_location":{"id":"doi:10.1210/jc.87.6.2658","doi":"https://doi.org/10.1210/jc.87.6.2658","is_oa":false,"landing_page_url":"https://doi.org/10.1210/jc.87.6.2658","pdf_url":null,"source":{"id":"https://openalex.org/S205775358","display_name":"The Journal of Clinical Endocrinology & Metabolism","issn_l":"0021-972X","issn":["0021-972X","1945-7197"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Endocrinology &amp; Metabolism","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","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/A5021561960","display_name":"Alessandra Vottero","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":"Alessandra Vottero","raw_affiliation_strings":["Pediatric and Reproductive Endocrinology Branch (A.V., T.K., G.P.C.), National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric and Reproductive Endocrinology Branch (A.V., T.K., G.P.C.), National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210144228"]}]},{"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":[{"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":"Tomoshige Kino","raw_affiliation_strings":["Pediatric and Reproductive Endocrinology Branch (A.V., T.K., G.P.C.), National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric and Reproductive Endocrinology Branch (A.V., T.K., G.P.C.), National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210144228"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020349716","display_name":"Herv\u00e9 Combe","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210095477","display_name":"Centre Hospitalier Universitaire de Tours","ror":"https://ror.org/00jpq0w62","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210095477"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Herve Combe","raw_affiliation_strings":["Endocrine Unit, Medicine B (H.C., P.L.), Centre Hospitalier Universitaire de Tours, 37044 Tours, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Endocrine Unit, Medicine B (H.C., P.L.), Centre Hospitalier Universitaire de Tours, 37044 Tours, France","institution_ids":["https://openalex.org/I4210095477"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103533356","display_name":"Pierre Lecomte","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210095477","display_name":"Centre Hospitalier Universitaire de Tours","ror":"https://ror.org/00jpq0w62","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210095477"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Pierre Lecomte","raw_affiliation_strings":["Endocrine Unit, Medicine B (H.C., P.L.), Centre Hospitalier Universitaire de Tours, 37044 Tours, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Endocrine Unit, Medicine B (H.C., P.L.), Centre Hospitalier Universitaire de Tours, 37044 Tours, France","institution_ids":["https://openalex.org/I4210095477"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5106429776","display_name":"George P. Chrousos","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":"George P. Chrousos","raw_affiliation_strings":["Pediatric and Reproductive Endocrinology Branch (A.V., T.K., G.P.C.), National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric and Reproductive Endocrinology Branch (A.V., T.K., G.P.C.), National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210144228"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5060665424"],"corresponding_institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210144228"],"apc_list":{"value":3750,"currency":"USD","value_usd":3750},"apc_paid":null,"fwci":6.1843,"has_fulltext":false,"cited_by_count":126,"citation_normalized_percentile":{"value":0.97127557,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"87","issue":"6","first_page":"2658","last_page":"2667"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10756","display_name":"Estrogen and related hormone effects","score":0.7699999809265137,"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"}},"topics":[{"id":"https://openalex.org/T10756","display_name":"Estrogen and related hormone effects","score":0.7699999809265137,"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"}},{"id":"https://openalex.org/T12421","display_name":"Adrenal Hormones and Disorders","score":0.19140000641345978,"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/T11178","display_name":"Receptor Mechanisms and Signaling","score":0.005499999970197678,"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/glucocorticoid-resistance","display_name":"glucocorticoid resistance","score":0.8600000143051147},{"id":"https://openalex.org/keywords/glucocorticoid-receptor","display_name":"glucocorticoid receptor","score":0.859000027179718},{"id":"https://openalex.org/keywords/dominant-negative-mutation","display_name":"dominant negative mutation","score":0.8389999866485596},{"id":"https://openalex.org/keywords/ligand-binding-domain","display_name":"ligand-binding domain","score":0.7910000085830688},{"id":"https://openalex.org/keywords/af-2-domain","display_name":"AF-2 domain","score":0.7900000214576721},{"id":"https://openalex.org/keywords/p160-coactivators","display_name":"p160 coactivators","score":0.9470000267028809},{"id":"https://openalex.org/keywords/transcriptional-activation","display_name":"transcriptional activation","score":0.5619999766349792},{"id":"https://openalex.org/keywords/nuclear-translocation","display_name":"nuclear translocation","score":0.7509999871253967},{"id":"https://openalex.org/keywords/nuclear-speckles","display_name":"nuclear speckles","score":0.9490000009536743},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.7379999756813049}],"concepts":[{"id":"https://openalex.org/C77445288","wikidata":"https://www.wikidata.org/wiki/Q637488","display_name":"Coactivator","level":4,"score":0.811331033706665},{"id":"https://openalex.org/C124170894","wikidata":"https://www.wikidata.org/wiki/Q14914591","display_name":"Nuclear receptor coactivator 2","level":5,"score":0.7867031693458557},{"id":"https://openalex.org/C1292079","wikidata":"https://www.wikidata.org/wiki/Q3817769","display_name":"Transactivation","level":4,"score":0.7416775226593018},{"id":"https://openalex.org/C59493245","wikidata":"https://www.wikidata.org/wiki/Q14877410","display_name":"Glucocorticoid receptor","level":3,"score":0.696557343006134},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.6481158137321472},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6321630477905273},{"id":"https://openalex.org/C195598365","wikidata":"https://www.wikidata.org/wiki/Q14914583","display_name":"Nuclear receptor coactivator 1","level":5,"score":0.5756238698959351},{"id":"https://openalex.org/C207583985","wikidata":"https://www.wikidata.org/wiki/Q128723","display_name":"Wild type","level":4,"score":0.5286505818367004},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.47945156693458557},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.43945345282554626},{"id":"https://openalex.org/C2780841215","wikidata":"https://www.wikidata.org/wiki/Q422549","display_name":"Glucocorticoid","level":2,"score":0.4275229871273041},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.39107567071914673},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3341575264930725},{"id":"https://openalex.org/C86339819","wikidata":"https://www.wikidata.org/wiki/Q407384","display_name":"Transcription factor","level":3,"score":0.23532801866531372},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.213443785905838},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.210830420255661},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.07651412487030029}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","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":"D001483","descriptor_name":"Base Sequence","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002352","descriptor_name":"Carrier Proteins","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":true},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004351","descriptor_name":"Drug Resistance","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005799","descriptor_name":"Genes, Dominant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005938","descriptor_name":"Glucocorticoids","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":true},{"descriptor_ui":"D006367","descriptor_name":"HeLa Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009687","descriptor_name":"Nuclear Proteins","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":true},{"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":"Q000187","qualifier_name":"drug effects","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":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D011987","descriptor_name":"Receptors, Steroid","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":true},{"descriptor_ui":"D012333","descriptor_name":"RNA, Messenger","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D014018","descriptor_name":"Tissue Distribution","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":false},{"descriptor_ui":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":true},{"descriptor_ui":"D014162","descriptor_name":"Transfection","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016601","descriptor_name":"RNA-Binding Proteins","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},{"descriptor_ui":"D019943","descriptor_name":"Amino Acid Substitution","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":true},{"descriptor_ui":"D029543","descriptor_name":"Nucleocytoplasmic Transport Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051958","descriptor_name":"Nuclear Receptor Coactivator 2","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1210/jc.87.6.2658","doi":"https://doi.org/10.1210/jc.87.6.2658","is_oa":false,"landing_page_url":"https://doi.org/10.1210/jc.87.6.2658","pdf_url":null,"source":{"id":"https://openalex.org/S205775358","display_name":"The Journal of Clinical Endocrinology & Metabolism","issn_l":"0021-972X","issn":["0021-972X","1945-7197"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Endocrinology &amp; Metabolism","raw_type":"journal-article"},{"id":"doi:10.1210/jcem.87.6.8520","doi":"https://doi.org/10.1210/jcem.87.6.8520","is_oa":false,"landing_page_url":"https://doi.org/10.1210/jcem.87.6.8520","pdf_url":null,"source":{"id":"https://openalex.org/S205775358","display_name":"The Journal of Clinical Endocrinology & Metabolism","issn_l":"0021-972X","issn":["0021-972X","1945-7197"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Journal of Clinical Endocrinology &amp; Metabolism","raw_type":"journal-article"},{"id":"pmid:12050230","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12050230","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":"The Journal of clinical endocrinology and metabolism","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8048999905586243}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.6000000238418579}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":41,"referenced_works":["https://openalex.org/W232934358","https://openalex.org/W1501286679","https://openalex.org/W1513665981","https://openalex.org/W1517035469","https://openalex.org/W1907321242","https://openalex.org/W1968680063","https://openalex.org/W1969070806","https://openalex.org/W1973208298","https://openalex.org/W1974791065","https://openalex.org/W1981742600","https://openalex.org/W1982453454","https://openalex.org/W1999781970","https://openalex.org/W2002032260","https://openalex.org/W2005668937","https://openalex.org/W2007441206","https://openalex.org/W2011119018","https://openalex.org/W2020678193","https://openalex.org/W2047119203","https://openalex.org/W2050018101","https://openalex.org/W2053781068","https://openalex.org/W2060037483","https://openalex.org/W2077716901","https://openalex.org/W2090777089","https://openalex.org/W2091322528","https://openalex.org/W2091768650","https://openalex.org/W2094838095","https://openalex.org/W2095651361","https://openalex.org/W2099407648","https://openalex.org/W2101738855","https://openalex.org/W2106470286","https://openalex.org/W2111650618","https://openalex.org/W2113249646","https://openalex.org/W2117114292","https://openalex.org/W2118442033","https://openalex.org/W2120622970","https://openalex.org/W2124174146","https://openalex.org/W2126440764","https://openalex.org/W2143103923","https://openalex.org/W4252570609","https://openalex.org/W4294250616","https://openalex.org/W6677951228"],"related_works":["https://openalex.org/W2134266632","https://openalex.org/W2155539407","https://openalex.org/W2040214881","https://openalex.org/W2152123169","https://openalex.org/W2077716901","https://openalex.org/W2168894358","https://openalex.org/W4252947596","https://openalex.org/W2021335702","https://openalex.org/W1981742600","https://openalex.org/W2083138039"],"abstract_inverted_index":{"Primary":[0],"cortisol":[1],"resistance":[2,245],"is":[3],"a":[4,19,26,70,80,125,143,157,181,203,208,257,283],"rare,":[5],"inherited":[6],"or":[7],"sporadic":[8],"form":[9],"of":[10,36,39,45,64,76,89,129,156,170,218,237,287],"generalized":[11],"end-organ":[12],"insensitivity":[13],"to":[14,29,57,116,142,148,275],"glucocorticoids.":[15],"Here,":[16],"we":[17],"report":[18],"kindred":[20],"in":[21,73,184,212,215],"which":[22,68,273],"affected":[23],"members":[24],"had":[25,180,207],"heterozygous":[27],"T":[28],"G":[30],"base":[31],"substitution":[32,44],"at":[33,49,60,233],"nucleotide":[34],"2373":[35],"exon":[37],"9alpha":[38],"the":[40,61,65,74,90,105,120,161,166,171,188,191,213,216,231,238,262],"GR":[41,92,122,135,239],"gene,":[42],"causing":[43],"Ile":[46],"by":[47,97,114,246,255],"Met":[48],"position":[50],"747.":[51],"This":[52],"mutation":[53,232],"was":[54,95,112],"located":[55],"close":[56],"helix":[58],"12,":[59],"C":[62],"terminus":[63],"ligand-binding":[66],"domain,":[67,272],"has":[69,268],"pivotal":[71],"role":[72],"formation":[75],"activation":[77],"function":[78],"(AF)-2,":[79],"subdomain":[81],"that":[82,230],"interacts":[83],"with":[84,279],"p160":[85,144,158,205,280],"coactivators.":[86],"The":[87,133,265],"affinity":[88,250],"mutant":[91,121,134,172,219,266],"for":[93],"dexamethasone":[94],"decreased":[96],"about":[98],"2-fold,":[99],"and":[100,164,193,251,254,282],"its":[101,137,152,185],"transcriptional":[102,162,252],"activity":[103,163,169],"on":[104,261],"glucocorticoid-responsive":[106],"mouse":[107],"mammary":[108],"tumor":[109],"virus":[110],"promoter":[111],"compromised":[113],"20-":[115],"30-fold.":[117],"In":[118],"addition,":[119],"functioned":[123],"as":[124,225],"dominant":[126,243],"negative":[127,167,258],"inhibitor":[128],"wild-type":[130,200,221,263],"receptor-induced":[131],"transactivation.":[132],"through":[136,151],"intact":[138],"AF-1":[139],"domain":[140],"bound":[141],"coactivator,":[145],"but":[146],"failed":[147],"do":[149],"so":[150],"AF-2":[153,271],"domain.":[154],"Overexpression":[155],"coactivator":[159,206],"restored":[160],"reversed":[165],"transdominant":[168,259],"GR.":[173],"Interestingly,":[174],"green":[175],"fluorescent":[176],"protein":[177],"(GFP)-fused":[178],"GRalphaI747M":[179],"slight":[182],"delay":[183],"translocation":[186],"from":[187],"cytoplasm":[189],"into":[190],"nucleus":[192,214],"formed":[194],"coarser":[195,226],"nuclear":[196,285],"speckles":[197],"than":[198],"GFP-fused":[199,204],"GRalpha.":[201],"Similarly,":[202],"distinctly":[209],"different":[210],"distribution":[211,286],"presence":[217],"vs.":[220],"receptor,":[222],"presenting":[223],"also":[224],"speckling.":[227],"We":[228],"conclude":[229],"amino":[234],"acid":[235],"747":[236],"causes":[240],"familial,":[241],"autosomal":[242],"glucocorticoid":[244],"decreasing":[247],"ligand":[248],"binding":[249],"activity,":[253],"exerting":[256],"effect":[260],"receptor.":[264],"receptor":[267],"an":[269,276],"ineffective":[270],"leads":[274],"abnormal":[277],"interaction":[278],"coactivators":[281],"distinct":[284],"both.":[288]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":5},{"year":2018,"cited_by_count":5},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":6},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":6},{"year":2012,"cited_by_count":10}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
