{"id":"https://openalex.org/W2407909613","doi":null,"title":"Molecular genetics of severe insulin resistance.","display_name":"Molecular genetics of severe insulin resistance.","publication_year":1989,"publication_date":"1989-09-01","ids":{"openalex":"https://openalex.org/W2407909613","mag":"2407909613","pmid":"https://pubmed.ncbi.nlm.nih.gov/2697987","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/2589158"},"language":"en","primary_location":{"id":"pmh:oai:pubmedcentral.nih.gov:2589158","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC2589158/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC2589158/pdf/","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Yale J Biol Med","raw_type":"Text"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC2589158/pdf/","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5036810359","display_name":"Louis J. Elsas","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I150468666","display_name":"Emory University","ror":"https://ror.org/03czfpz43","country_code":"US","type":"education","lineage":["https://openalex.org/I150468666"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"L J Elsas","raw_affiliation_strings":["Department of Pediatrics, Emory University, Atlanta, Georgia 30322"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Emory University, Atlanta, Georgia 30322","institution_ids":["https://openalex.org/I150468666"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032217427","display_name":"Nicola Longo","orcid":"https://orcid.org/0009-0009-3394-0596","observed_orcids":["https://orcid.org/0009-0009-3394-0596","https://orcid.org/0000-0002-9509-8906"]},"institutions":[{"id":"https://openalex.org/I150468666","display_name":"Emory University","ror":"https://ror.org/03czfpz43","country_code":"US","type":"education","lineage":["https://openalex.org/I150468666"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"N Longo","raw_affiliation_strings":["Emory University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Emory University","institution_ids":["https://openalex.org/I150468666"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040767959","display_name":"Sharon D. Langley","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I150468666","display_name":"Emory University","ror":"https://ror.org/03czfpz43","country_code":"US","type":"education","lineage":["https://openalex.org/I150468666"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"S Langley","raw_affiliation_strings":["Emory University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Emory University","institution_ids":["https://openalex.org/I150468666"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058964499","display_name":"Lorri D. Griffin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I150468666","display_name":"Emory University","ror":"https://ror.org/03czfpz43","country_code":"US","type":"education","lineage":["https://openalex.org/I150468666"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"L D Griffin","raw_affiliation_strings":["Emory University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Emory University","institution_ids":["https://openalex.org/I150468666"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5036499927","display_name":"Robert C. Shuster","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I150468666","display_name":"Emory University","ror":"https://ror.org/03czfpz43","country_code":"US","type":"education","lineage":["https://openalex.org/I150468666"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"R C Shuster","raw_affiliation_strings":["Emory University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Emory University","institution_ids":["https://openalex.org/I150468666"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I150468666"],"apc_list":null,"apc_paid":null,"fwci":0.2156,"has_fulltext":true,"cited_by_count":12,"citation_normalized_percentile":{"value":0.39794112,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"62","issue":"5","first_page":"533","last_page":"47"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11339","display_name":"Metabolism, Diabetes, and Cancer","score":0.5526999831199646,"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"}},"topics":[{"id":"https://openalex.org/T11339","display_name":"Metabolism, Diabetes, and Cancer","score":0.5526999831199646,"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/T10839","display_name":"Pancreatic function and diabetes","score":0.12919999659061432,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.0689999982714653,"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/insulin-resistance","display_name":"insulin resistance","score":0.7419999837875366},{"id":"https://openalex.org/keywords/leprechaunism","display_name":"leprechaunism","score":0.9089999794960022},{"id":"https://openalex.org/keywords/insulin-receptor","display_name":"insulin receptor","score":0.7210000157356262},{"id":"https://openalex.org/keywords/insulin-receptor-alpha-subunit","display_name":"insulin receptor alpha subunit","score":0.9480000138282776},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.8199999928474426},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.8339999914169312},{"id":"https://openalex.org/keywords/nonsense-mutation","display_name":"nonsense mutation","score":1.0},{"id":"https://openalex.org/keywords/insulin-receptor-mrna","display_name":"insulin receptor mRNA","score":0.5270000100135803},{"id":"https://openalex.org/keywords/post-translational-processing","display_name":"post-translational processing","score":0.8420000076293945},{"id":"https://openalex.org/keywords/insulin-binding","display_name":"insulin binding","score":0.6200000047683716},{"id":"https://openalex.org/keywords/glucose-transport","display_name":"glucose transport","score":0.8169999718666077},{"id":"https://openalex.org/keywords/familial-hyperinsulinism","display_name":"familial hyperinsulinism","score":0.4189999997615814}],"concepts":[{"id":"https://openalex.org/C112446052","wikidata":"https://www.wikidata.org/wiki/Q422579","display_name":"Insulin receptor","level":4,"score":0.8059200048446655},{"id":"https://openalex.org/C2777391703","wikidata":"https://www.wikidata.org/wiki/Q1053470","display_name":"Insulin resistance","level":3,"score":0.747785747051239},{"id":"https://openalex.org/C2779306644","wikidata":"https://www.wikidata.org/wiki/Q2002370","display_name":"Insulin","level":2,"score":0.6874945759773254},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.5929067134857178},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5527389049530029},{"id":"https://openalex.org/C144174609","wikidata":"https://www.wikidata.org/wiki/Q14901457","display_name":"Insulin-like growth factor 1 receptor","level":4,"score":0.5126585364341736},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.508918285369873},{"id":"https://openalex.org/C185967709","wikidata":"https://www.wikidata.org/wiki/Q101433828","display_name":"Insulin receptor substrate","level":5,"score":0.4838527739048004},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.4615841507911682},{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.44799134135246277},{"id":"https://openalex.org/C197902417","wikidata":"https://www.wikidata.org/wiki/Q18033191","display_name":"IRS2","level":5,"score":0.4412417411804199},{"id":"https://openalex.org/C82183700","wikidata":"https://www.wikidata.org/wiki/Q14914347","display_name":"GRB10","level":5,"score":0.42948147654533386},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.42268800735473633},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.35987764596939087},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3461706042289734},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3085270822048187},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.19406142830848694},{"id":"https://openalex.org/C2775960820","wikidata":"https://www.wikidata.org/wiki/Q408378","display_name":"Growth factor","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007328","descriptor_name":"Insulin","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D007333","descriptor_name":"Insulin Resistance","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011972","descriptor_name":"Receptor, Insulin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":4,"locations":[{"id":"pmh:oai:pubmedcentral.nih.gov:2589158","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC2589158/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC2589158/pdf/","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Yale J Biol Med","raw_type":"Text"},{"id":"pmid:2697987","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/2697987","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 Yale journal of biology and medicine","raw_type":"Journal Article"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.278.1747","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.278.1747","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/66/97/Yale_J_Biol_Med_1989_Sep-Oct_62(5)_533-547.tar.gz","raw_type":"text"},{"id":"mag:2407909613","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/2697987","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":{"id":"pmh:oai:pubmedcentral.nih.gov:2589158","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC2589158/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC2589158/pdf/","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Yale J Biol Med","raw_type":"Text"},"sustainable_development_goals":[{"score":0.8560000061988831,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G7893637269","display_name":"INSULIN RECEPTORS IN HERITABLE INSULIN RESISTANCE","funder_award_id":"R01DK040362","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"}],"funders":[{"id":"https://openalex.org/F4320309381","display_name":"Emory University","ror":"https://ror.org/03czfpz43"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2407909613.pdf","grobid_xml":"https://content.openalex.org/works/W2407909613.grobid-xml"},"referenced_works_count":54,"referenced_works":["https://openalex.org/W180238663","https://openalex.org/W245141043","https://openalex.org/W1483819615","https://openalex.org/W1484127823","https://openalex.org/W1503598995","https://openalex.org/W1515298003","https://openalex.org/W1515512355","https://openalex.org/W1521879214","https://openalex.org/W1533778697","https://openalex.org/W1570207437","https://openalex.org/W1580814522","https://openalex.org/W1672272434","https://openalex.org/W1931843124","https://openalex.org/W1963847700","https://openalex.org/W1964822816","https://openalex.org/W1964846497","https://openalex.org/W1965371391","https://openalex.org/W1966369545","https://openalex.org/W1971972894","https://openalex.org/W1976177239","https://openalex.org/W1979059085","https://openalex.org/W1979832237","https://openalex.org/W1984572489","https://openalex.org/W1991710558","https://openalex.org/W1991833894","https://openalex.org/W1995337883","https://openalex.org/W1999336922","https://openalex.org/W2002070144","https://openalex.org/W2003434098","https://openalex.org/W2014605373","https://openalex.org/W2015175252","https://openalex.org/W2016910304","https://openalex.org/W2018751358","https://openalex.org/W2028966505","https://openalex.org/W2030156849","https://openalex.org/W2039726303","https://openalex.org/W2039931367","https://openalex.org/W2058794419","https://openalex.org/W2070892520","https://openalex.org/W2077020659","https://openalex.org/W2082692285","https://openalex.org/W2083374924","https://openalex.org/W2084912333","https://openalex.org/W2086453063","https://openalex.org/W2096578738","https://openalex.org/W2103174300","https://openalex.org/W2104304082","https://openalex.org/W2105708077","https://openalex.org/W2122567567","https://openalex.org/W2131325298","https://openalex.org/W2156192395","https://openalex.org/W2412000455","https://openalex.org/W2416297436","https://openalex.org/W3144777545"],"related_works":["https://openalex.org/W1983288781","https://openalex.org/W2022343395","https://openalex.org/W1979059085","https://openalex.org/W1672272434","https://openalex.org/W1544163649","https://openalex.org/W2026947248","https://openalex.org/W2587719188","https://openalex.org/W2397864835","https://openalex.org/W1631239351","https://openalex.org/W1971396822"],"abstract_inverted_index":{"Leprechaunism":[0],"and":[1,71,77,95,104,125,136,203,235],"type":[2,174],"A":[3,175],"diabetes":[4],"represent":[5],"inborn":[6],"errors":[7],"of":[8,37,79,119,153,171,181,192,196,206,231],"insulin":[9,19,31,51,69,72,81,110,154,160,172,183,198,225],"resistance":[10],"whose":[11],"phenotypes":[12],"suggested":[13],"causation":[14],"by":[15,209],"mutations":[16,48,177,191],"in":[17,41,49,57,100,131,223],"the":[18,50,89,101,116,150,167,182,193,197,224],"receptor":[20,73,82,111,161,184,199,226],"gene.":[21],"Cells":[22],"cultured":[23,43,121],"from":[24,44,84,122,133,141,146],"patients":[25,123,134],"with":[26,158,166],"leprechaunism":[27],"specifically":[28],"lacked":[29],"high-affinity":[30],"binding.":[32],"Partial":[33],"but":[34,127,144],"different":[35,58],"degrees":[36],"impairment":[38],"were":[39,55],"observed":[40],"cells":[42,132,140],"first-degree":[45],"relatives.":[46],"Different":[47],"receptor's":[52],"alpha":[53,102,194],"subunit":[54,103,195],"proposed":[56],"families":[59,165],"(Ark-1,":[60],"Atl,":[61,213],"Minn,":[62,143],"Mount":[63,137,148],"Sinai)":[64],"based":[65],"on":[66,115],"phenotype,":[67],"cellular":[68,188,237],"binding,":[70],"structure.":[74],"Molecular":[75],"cloning":[76],"sequencing":[78],"mutant":[80],"cDNA":[83],"family":[85,212],"Ark-1":[86,124],"confirmed":[87],"that":[88],"proband":[90],"inherited":[91,232],"a":[92,96,106,187,229],"maternal":[93],"missense":[94],"paternal":[97],"nonsense":[98],"mutation":[99],"was":[105,112,128,156,217],"compound":[107],"heterozygote.":[108],"The":[109],"immunologically":[113],"present":[114],"plasma":[117],"membrane":[118],"fibroblasts":[120],"Atl":[126],"markedly":[129],"reduced":[130,159],"Minn":[135],"Sinai.":[138],"In":[139,163,211],"patient":[142,147],"not":[145],"Sinai,":[149],"decreased":[151],"number":[152],"receptors":[155],"associated":[157],"mRNA.":[162],"two":[164],"less":[168],"severe":[169],"form":[170],"resistance,":[173],"diabetes,":[176],"altered":[178,236],"post-translational":[179],"processing":[180],"molecule.":[185],"At":[186],"level,":[189],"these":[190],"shared":[200],"defective":[201],"binding":[202],"impaired":[204],"stimulation":[205],"sugar":[207],"transport":[208],"insulin.":[210],"however,":[214],"glucose":[215],"uptake":[216],"constitutively":[218],"increased.":[219],"Thus,":[220],"genetic":[221],"variation":[222],"gene":[227],"causes":[228],"spectrum":[230],"insulin-resistant":[233],"syndromes":[234],"signaling.":[238]},"counts_by_year":[{"year":2023,"cited_by_count":1},{"year":2014,"cited_by_count":3},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-11T12:16:26.678958","created_date":"2016-06-24T00:00:00"}