{"id":"https://openalex.org/W2336778665","doi":"https://doi.org/10.1056/nejm198604033141404","title":"Detection of Familial Hypercholesterolemia by Assaying Functional Low-Density-Lipoprotein Receptors on Lymphocytes","display_name":"Detection of Familial Hypercholesterolemia by Assaying Functional Low-Density-Lipoprotein Receptors on Lymphocytes","publication_year":1986,"publication_date":"1986-04-03","ids":{"openalex":"https://openalex.org/W2336778665","doi":"https://doi.org/10.1056/nejm198604033141404","mag":"2336778665","pmid":"https://pubmed.ncbi.nlm.nih.gov/3633381"},"language":"en","primary_location":{"id":"doi:10.1056/nejm198604033141404","doi":"https://doi.org/10.1056/nejm198604033141404","is_oa":false,"landing_page_url":"https://doi.org/10.1056/nejm198604033141404","pdf_url":null,"source":{"id":"https://openalex.org/S62468778","display_name":"New England Journal of Medicine","issn_l":"0028-4793","issn":["0028-4793","0096-6762","1533-4406","2331-4710"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320239","host_organization_name":"Massachusetts Medical Society","host_organization_lineage":["https://openalex.org/P4310320239"],"host_organization_lineage_names":["Massachusetts Medical Society"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"New England Journal of Medicine","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/A5007342242","display_name":"Jennifer A. Cuthbert","orcid":"https://orcid.org/0000-0002-8413-2128","observed_orcids":["https://orcid.org/0000-0002-8413-2128"]},"institutions":[{"id":"https://openalex.org/I4210094379","display_name":"University of Texas Health Science Center at Dallas","ror":"https://ror.org/00q16t150","country_code":"US","type":"education","lineage":["https://openalex.org/I4210094379"]},{"id":"https://openalex.org/I867280407","display_name":"The University of Texas Southwestern Medical Center","ror":"https://ror.org/05byvp690","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I867280407"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jennifer A. Cuthbert","raw_affiliation_strings":["Liver, Rheumatic Diseases, and Lipid Metabolism Units, Department of Internal Medicine, University of Texas Health Science Center at Dallas, Southwestern Medical School. Address reprint requests to Dr. Cuthbert at the Liver Unit, Department of Internal Medicine, UTHSCD, Southwestern Medical School, 5323 Harry Hines Blvd., Dallas, TX 75235"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Liver, Rheumatic Diseases, and Lipid Metabolism Units, Department of Internal Medicine, University of Texas Health Science Center at Dallas, Southwestern Medical School. Address reprint requests to Dr. Cuthbert at the Liver Unit, Department of Internal Medicine, UTHSCD, Southwestern Medical School, 5323 Harry Hines Blvd., Dallas, TX 75235","institution_ids":["https://openalex.org/I4210094379","https://openalex.org/I867280407"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058880971","display_name":"Cara Anne East","orcid":"https://orcid.org/0000-0001-5405-0941","observed_orcids":["https://orcid.org/0000-0001-5405-0941"]},"institutions":[{"id":"https://openalex.org/I4210094379","display_name":"University of Texas Health Science Center at Dallas","ror":"https://ror.org/00q16t150","country_code":"US","type":"education","lineage":["https://openalex.org/I4210094379"]},{"id":"https://openalex.org/I867280407","display_name":"The University of Texas Southwestern Medical Center","ror":"https://ror.org/05byvp690","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I867280407"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Cara A. East","raw_affiliation_strings":["Liver, Rheumatic Diseases, and Lipid Metabolism Units, Department of Internal Medicine, University of Texas Health Science Center at Dallas, Southwestern Medical School. Address reprint requests to Dr. Cuthbert at the Liver Unit, Department of Internal Medicine, UTHSCD, Southwestern Medical School, 5323 Harry Hines Blvd., Dallas, TX 75235"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Liver, Rheumatic Diseases, and Lipid Metabolism Units, Department of Internal Medicine, University of Texas Health Science Center at Dallas, Southwestern Medical School. Address reprint requests to Dr. Cuthbert at the Liver Unit, Department of Internal Medicine, UTHSCD, Southwestern Medical School, 5323 Harry Hines Blvd., Dallas, TX 75235","institution_ids":["https://openalex.org/I4210094379","https://openalex.org/I867280407"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050883458","display_name":"David W. Bilheimer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210094379","display_name":"University of Texas Health Science Center at Dallas","ror":"https://ror.org/00q16t150","country_code":"US","type":"education","lineage":["https://openalex.org/I4210094379"]},{"id":"https://openalex.org/I867280407","display_name":"The University of Texas Southwestern Medical Center","ror":"https://ror.org/05byvp690","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I867280407"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"David W. Bilheimer","raw_affiliation_strings":["Liver, Rheumatic Diseases, and Lipid Metabolism Units, Department of Internal Medicine, University of Texas Health Science Center at Dallas, Southwestern Medical School. Address reprint requests to Dr. Cuthbert at the Liver Unit, Department of Internal Medicine, UTHSCD, Southwestern Medical School, 5323 Harry Hines Blvd., Dallas, TX 75235"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Liver, Rheumatic Diseases, and Lipid Metabolism Units, Department of Internal Medicine, University of Texas Health Science Center at Dallas, Southwestern Medical School. Address reprint requests to Dr. Cuthbert at the Liver Unit, Department of Internal Medicine, UTHSCD, Southwestern Medical School, 5323 Harry Hines Blvd., Dallas, TX 75235","institution_ids":["https://openalex.org/I4210094379","https://openalex.org/I867280407"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5043874873","display_name":"Peter E. Lipsky","orcid":"https://orcid.org/0000-0002-9287-1676","observed_orcids":["https://orcid.org/0000-0002-9287-1676"]},"institutions":[{"id":"https://openalex.org/I4210094379","display_name":"University of Texas Health Science Center at Dallas","ror":"https://ror.org/00q16t150","country_code":"US","type":"education","lineage":["https://openalex.org/I4210094379"]},{"id":"https://openalex.org/I867280407","display_name":"The University of Texas Southwestern Medical Center","ror":"https://ror.org/05byvp690","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I867280407"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Peter E. Lipsky","raw_affiliation_strings":["Liver, Rheumatic Diseases, and Lipid Metabolism Units, Department of Internal Medicine, University of Texas Health Science Center at Dallas, Southwestern Medical School. Address reprint requests to Dr. Cuthbert at the Liver Unit, Department of Internal Medicine, UTHSCD, Southwestern Medical School, 5323 Harry Hines Blvd., Dallas, TX 75235"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Liver, Rheumatic Diseases, and Lipid Metabolism Units, Department of Internal Medicine, University of Texas Health Science Center at Dallas, Southwestern Medical School. Address reprint requests to Dr. Cuthbert at the Liver Unit, Department of Internal Medicine, UTHSCD, Southwestern Medical School, 5323 Harry Hines Blvd., Dallas, TX 75235","institution_ids":["https://openalex.org/I4210094379","https://openalex.org/I867280407"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":11.3998,"has_fulltext":false,"cited_by_count":105,"citation_normalized_percentile":{"value":0.98634707,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"314","issue":"14","first_page":"879","last_page":"883"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10394","display_name":"Lipoproteins and Cardiovascular Health","score":0.8159000277519226,"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/T10394","display_name":"Lipoproteins and Cardiovascular Health","score":0.8159000277519226,"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/T11618","display_name":"Cholesterol and Lipid Metabolism","score":0.1704999953508377,"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/T13430","display_name":"Lipid metabolism and disorders","score":0.008700000122189522,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular 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/familial-hypercholesterolemia","display_name":"familial hypercholesterolemia","score":1.0},{"id":"https://openalex.org/keywords/ldl-receptor","display_name":"LDL receptor","score":0.7720000147819519},{"id":"https://openalex.org/keywords/lymphocyte-proliferation","display_name":"lymphocyte proliferation","score":0.7950000166893005},{"id":"https://openalex.org/keywords/cholesterol-absorption","display_name":"cholesterol absorption","score":0.4169999957084656},{"id":"https://openalex.org/keywords/lovastatin","display_name":"lovastatin","score":0.8379999995231628},{"id":"https://openalex.org/keywords/heterozygous-familial-hypercholesterolemia","display_name":"heterozygous familial hypercholesterolemia","score":0.9570000171661377},{"id":"https://openalex.org/keywords/homozygous-familial-hypercholesterolemia","display_name":"homozygous familial hypercholesterolemia","score":0.9900000095367432},{"id":"https://openalex.org/keywords/hyperlipidemia","display_name":"hyperlipidemia","score":0.890999972820282},{"id":"https://openalex.org/keywords/atherosclerosis","display_name":"atherosclerosis","score":0.656000018119812}],"concepts":[{"id":"https://openalex.org/C2779120738","wikidata":"https://www.wikidata.org/wiki/Q2711291","display_name":"Familial hypercholesterolemia","level":3,"score":0.9438600540161133},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.7310030460357666},{"id":"https://openalex.org/C2779091943","wikidata":"https://www.wikidata.org/wiki/Q1079120","display_name":"Hyperlipidemia","level":3,"score":0.6954590678215027},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.652726411819458},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.6457637548446655},{"id":"https://openalex.org/C43554185","wikidata":"https://www.wikidata.org/wiki/Q425649","display_name":"LDL receptor","level":4,"score":0.6449465155601501},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5937884449958801},{"id":"https://openalex.org/C2777761686","wikidata":"https://www.wikidata.org/wiki/Q715347","display_name":"Lymphocyte","level":2,"score":0.5509082078933716},{"id":"https://openalex.org/C2780072125","wikidata":"https://www.wikidata.org/wiki/Q28350","display_name":"Lipoprotein","level":3,"score":0.550702691078186},{"id":"https://openalex.org/C2778163477","wikidata":"https://www.wikidata.org/wiki/Q43656","display_name":"Cholesterol","level":2,"score":0.5156946778297424},{"id":"https://openalex.org/C2779620165","wikidata":"https://www.wikidata.org/wiki/Q28749","display_name":"Low-density lipoprotein","level":3,"score":0.49697545170783997},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.3496130108833313},{"id":"https://openalex.org/C555293320","wikidata":"https://www.wikidata.org/wiki/Q12206","display_name":"Diabetes mellitus","level":2,"score":0.08423930406570435}],"mesh":[{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003937","descriptor_name":"Diagnosis, Differential","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000096","qualifier_name":"biosynthesis","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006580","descriptor_name":"Genetic Carrier Screening","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","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":"D006938","descriptor_name":"Hyperlipoproteinemia Type II","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D006938","descriptor_name":"Hyperlipoproteinemia Type II","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D006938","descriptor_name":"Hyperlipoproteinemia Type II","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006949","descriptor_name":"Hyperlipidemias","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D008078","descriptor_name":"Cholesterol, LDL","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":false},{"descriptor_ui":"D008148","descriptor_name":"Lovastatin","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008213","descriptor_name":"Lymphocyte Activation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008214","descriptor_name":"Lymphocytes","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":true},{"descriptor_ui":"D008214","descriptor_name":"Lymphocytes","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008722","descriptor_name":"Methods","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009281","descriptor_name":"Naphthalenes","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":false},{"descriptor_ui":"D011973","descriptor_name":"Receptors, LDL","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1056/nejm198604033141404","doi":"https://doi.org/10.1056/nejm198604033141404","is_oa":false,"landing_page_url":"https://doi.org/10.1056/nejm198604033141404","pdf_url":null,"source":{"id":"https://openalex.org/S62468778","display_name":"New England Journal of Medicine","issn_l":"0028-4793","issn":["0028-4793","0096-6762","1533-4406","2331-4710"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320239","host_organization_name":"Massachusetts Medical Society","host_organization_lineage":["https://openalex.org/P4310320239"],"host_organization_lineage_names":["Massachusetts Medical Society"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"New England Journal of Medicine","raw_type":"journal-article"},{"id":"pmid:3633381","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3633381","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 New England journal of medicine","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9922999739646912,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G5222145888","display_name":null,"funder_award_id":"AI-17653","funder_id":"https://openalex.org/F4320337355","funder_display_name":"National Institute of Allergy and Infectious Diseases"}],"funders":[{"id":"https://openalex.org/F4320337355","display_name":"National Institute of Allergy and Infectious Diseases","ror":"https://ror.org/043z4tv69"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":17,"referenced_works":["https://openalex.org/W190317460","https://openalex.org/W1486963290","https://openalex.org/W1570501116","https://openalex.org/W1775749144","https://openalex.org/W1972968384","https://openalex.org/W1989432650","https://openalex.org/W2005821105","https://openalex.org/W2036879096","https://openalex.org/W2044013920","https://openalex.org/W2055134345","https://openalex.org/W2067635119","https://openalex.org/W2105190099","https://openalex.org/W2115598881","https://openalex.org/W2121767872","https://openalex.org/W2142362392","https://openalex.org/W2169904273","https://openalex.org/W2918003422"],"related_works":["https://openalex.org/W2468898988","https://openalex.org/W2394578812","https://openalex.org/W2070666962","https://openalex.org/W2187672678","https://openalex.org/W2605546628","https://openalex.org/W2577944574","https://openalex.org/W2142362392","https://openalex.org/W2606120576","https://openalex.org/W1993465636","https://openalex.org/W2288265384"],"abstract_inverted_index":{"In":[0,137],"familial":[1,102,147],"hypercholesterolemia,":[2],"structural":[3],"and":[4,17,40,155],"functional":[5,105],"abnormalities":[6,175],"of":[7,50,58,64,96,119,134,141,153,157,176],"the":[8,94,139],"receptor":[9],"for":[10,174],"low-density":[11],"lipoprotein":[12],"(LDL)":[13],"lead":[14],"to":[15,26,69,85,92,110,168],"hypercholesterolemia":[16,148],"premature":[18],"atherosclerosis.":[19],"We":[20],"have":[21],"developed":[22],"a":[23,61,75],"simplified":[24],"method":[25,163],"identify":[27,169],"LDL-receptor":[28],"defects":[29],"in":[30,37,78,114],"peripheral-blood":[31],"lymphocytes.":[32],"When":[33],"lymphocytes":[34,51,97,120,142],"are":[35,90,108,172],"cultured":[36],"lipoprotein-depleted":[38],"medium":[39],"endogenous":[41],"sterol":[42],"biosynthesis":[43],"is":[44,52],"suppressed":[45],"with":[46,100,123,145],"mevinolin,":[47],"mitogen-stimulated":[48],"proliferation":[49,95,113],"dependent":[53],"on":[54],"an":[55],"exogenous":[56],"source":[57],"cholesterol.":[59],"Whereas":[60],"small":[62],"concentration":[63],"supplemental":[65],"LDL":[66,106,129,177],"cholesterol":[67],"(3":[68],"4":[70],"micrograms":[71,87],"per":[72,88],"milliliter)":[73,89],"permits":[74],"maximal":[76],"response":[77,118,140],"normal":[79,135,158],"lymphocytes,":[80],"even":[81],"high":[82],"concentrations":[83],"(10":[84],"50":[86],"unable":[91],"support":[93],"from":[98,121,143],"patients":[99,122,144],"homozygous":[101],"hypercholesterolemia.":[103],"Thus,":[104],"receptors":[107,130],"necessary":[109],"allow":[111],"lymphocyte":[112],"these":[115],"cultures.":[116],"The":[117],"hyperlipidemia":[124],"not":[125],"caused":[126],"by":[127],"defective":[128],"was":[131,149],"like":[132],"that":[133,152,156],"cells.":[136],"contrast,":[138],"heterozygous":[146,173],"intermediate":[150],"between":[151],"homozygotes":[154],"or":[159],"hyperlipidemic":[160],"controls.":[161],"Our":[162],"can":[164],"therefore":[165],"be":[166],"used":[167],"persons":[170],"who":[171],"receptors.":[178]},"counts_by_year":[{"year":2021,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":3}],"updated_date":"2026-11-03T10:50:19.383937","created_date":"2016-06-24T00:00:00"}