{"id":"https://openalex.org/W2802545388","doi":"https://doi.org/10.1089/thy.2017.0564","title":"Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests","display_name":"Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests","publication_year":2018,"publication_date":"2018-04-20","ids":{"openalex":"https://openalex.org/W2802545388","doi":"https://doi.org/10.1089/thy.2017.0564","mag":"2802545388","pmid":"https://pubmed.ncbi.nlm.nih.gov/29676214","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/5994679"},"language":"en","primary_location":{"id":"doi:10.1089/thy.2017.0564","doi":"https://doi.org/10.1089/thy.2017.0564","is_oa":false,"landing_page_url":"https://doi.org/10.1089/thy.2017.0564","pdf_url":null,"source":{"id":"https://openalex.org/S27569427","display_name":"Thyroid","issn_l":"1050-7256","issn":["1050-7256","1557-9077"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320443","host_organization_name":"Mary Ann Liebert, Inc.","host_organization_lineage":["https://openalex.org/P4310320443","https://openalex.org/P4310320017"],"host_organization_lineage_names":["Mary Ann Liebert, Inc.","SAGE Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Thyroid","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5994679","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5078300813","display_name":"Mizuho S. Mimoto","orcid":"https://orcid.org/0000-0002-4624-7645","observed_orcids":["https://orcid.org/0000-0002-4624-7645"]},"institutions":[{"id":"https://openalex.org/I40347166","display_name":"University of Chicago","ror":"https://ror.org/024mw5h28","country_code":"US","type":"education","lineage":["https://openalex.org/I40347166"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mizuho S. Mimoto","raw_affiliation_strings":["Department of Medicine, The University of Chicago, Chicago, Illinois"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, The University of Chicago, Chicago, Illinois","institution_ids":["https://openalex.org/I40347166"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067411369","display_name":"Anara Karaca","orcid":"https://orcid.org/0000-0003-2006-3853","observed_orcids":["https://orcid.org/0000-0003-2006-3853"]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Anara Karaca","raw_affiliation_strings":["Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035532317","display_name":"Neal H. Scherberg","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I40347166","display_name":"University of Chicago","ror":"https://ror.org/024mw5h28","country_code":"US","type":"education","lineage":["https://openalex.org/I40347166"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Neal Scherberg","raw_affiliation_strings":["Department of Medicine, The University of Chicago, Chicago, Illinois"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, The University of Chicago, Chicago, Illinois","institution_ids":["https://openalex.org/I40347166"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091134822","display_name":"Alexandra M. Dumitrescu","orcid":"https://orcid.org/0000-0002-2743-770X","observed_orcids":["https://orcid.org/0000-0002-2743-770X"]},"institutions":[{"id":"https://openalex.org/I40347166","display_name":"University of Chicago","ror":"https://ror.org/024mw5h28","country_code":"US","type":"education","lineage":["https://openalex.org/I40347166"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alexandra M. Dumitrescu","raw_affiliation_strings":["Department of Medicine, The University of Chicago, Chicago, Illinois"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, The University of Chicago, Chicago, Illinois","institution_ids":["https://openalex.org/I40347166"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5038183050","display_name":"Samuel Refetoff","orcid":"https://orcid.org/0000-0003-0164-8231","observed_orcids":["https://orcid.org/0000-0003-0164-8231"]},"institutions":[{"id":"https://openalex.org/I40347166","display_name":"University of Chicago","ror":"https://ror.org/024mw5h28","country_code":"US","type":"education","lineage":["https://openalex.org/I40347166"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Samuel Refetoff","raw_affiliation_strings":["Department of Committee on Genetics, The University of Chicago, Chicago, Illinois","Department of Medicine, The University of Chicago, Chicago, Illinois","Department of Pediatrics, The University of Chicago, Chicago, Illinois"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Committee on Genetics, The University of Chicago, Chicago, Illinois","institution_ids":["https://openalex.org/I40347166"]},{"raw_affiliation_string":"Department of Medicine, The University of Chicago, Chicago, Illinois","institution_ids":["https://openalex.org/I40347166"]},{"raw_affiliation_string":"Department of Pediatrics, The University of Chicago, Chicago, Illinois","institution_ids":["https://openalex.org/I40347166"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5038183050"],"corresponding_institution_ids":["https://openalex.org/I40347166"],"apc_list":null,"apc_paid":null,"fwci":0.2654,"has_fulltext":false,"cited_by_count":5,"citation_normalized_percentile":{"value":0.49922148,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"28","issue":"6","first_page":"811","last_page":"814"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11908","display_name":"Protein Interaction Studies and Fluorescence Analysis","score":0.6563000082969666,"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/T11908","display_name":"Protein Interaction Studies and Fluorescence Analysis","score":0.6563000082969666,"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/T10293","display_name":"Thyroid Disorders and Treatments","score":0.34060001373291016,"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":0.00039999998989515007,"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/familial-dysalbuminemic-hyperthyroxinemia","display_name":"familial dysalbuminemic hyperthyroxinemia","score":0.9800000190734863},{"id":"https://openalex.org/keywords/human-serum-albumin","display_name":"human serum albumin","score":0.9490000009536743},{"id":"https://openalex.org/keywords/homozygous-mutation","display_name":"homozygous mutation","score":0.9160000085830688},{"id":"https://openalex.org/keywords/total-thyroxine","display_name":"total thyroxine","score":0.8190000057220459},{"id":"https://openalex.org/keywords/free-thyroxine","display_name":"free thyroxine","score":0.9369999766349792},{"id":"https://openalex.org/keywords/consanguinity","display_name":"consanguinity","score":0.8500000238418579},{"id":"https://openalex.org/keywords/heterozygous-carriers","display_name":"heterozygous carriers","score":0.7049999833106995},{"id":"https://openalex.org/keywords/thyroid-function-tests","display_name":"thyroid function tests","score":0.6159999966621399}],"concepts":[{"id":"https://openalex.org/C153471976","wikidata":"https://www.wikidata.org/wiki/Q2873354","display_name":"Heterozygote advantage","level":4,"score":0.7274245619773865},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.7115037441253662},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.6683105230331421},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.6402633786201477},{"id":"https://openalex.org/C2778597219","wikidata":"https://www.wikidata.org/wiki/Q11721976","display_name":"Human serum albumin","level":2,"score":0.6345787048339844},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5628800988197327},{"id":"https://openalex.org/C71315377","wikidata":"https://www.wikidata.org/wiki/Q11364","display_name":"Hormone","level":2,"score":0.4704990088939667},{"id":"https://openalex.org/C526584372","wikidata":"https://www.wikidata.org/wiki/Q16399","display_name":"Thyroid","level":2,"score":0.4704051613807678},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4335397183895111},{"id":"https://openalex.org/C2776125364","wikidata":"https://www.wikidata.org/wiki/Q169219","display_name":"Albumin","level":2,"score":0.42437589168548584},{"id":"https://openalex.org/C2779571634","wikidata":"https://www.wikidata.org/wiki/Q422106","display_name":"Thyroid hormones","level":3,"score":0.4155266284942627},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.3921815752983093},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.35561010241508484},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.26966243982315063},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2533981204032898},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.19069504737854004},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.16827312111854553}],"mesh":[{"descriptor_ui":"D000075462","descriptor_name":"Serum Albumin, Human","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005192","descriptor_name":"Family Health","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","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":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":"D012709","descriptor_name":"Serum Albumin","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013960","descriptor_name":"Thyroid Function Tests","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013961","descriptor_name":"Thyroid Gland","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D013974","descriptor_name":"Thyroxine","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D050010","descriptor_name":"Hyperthyroxinemia, Familial Dysalbuminemic","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true},{"descriptor_ui":"D050010","descriptor_name":"Hyperthyroxinemia, Familial Dysalbuminemic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1089/thy.2017.0564","doi":"https://doi.org/10.1089/thy.2017.0564","is_oa":false,"landing_page_url":"https://doi.org/10.1089/thy.2017.0564","pdf_url":null,"source":{"id":"https://openalex.org/S27569427","display_name":"Thyroid","issn_l":"1050-7256","issn":["1050-7256","1557-9077"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320443","host_organization_name":"Mary Ann Liebert, Inc.","host_organization_lineage":["https://openalex.org/P4310320443","https://openalex.org/P4310320017"],"host_organization_lineage_names":["Mary Ann Liebert, Inc.","SAGE Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Thyroid","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:5994679","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5994679","pdf_url":null,"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":"Thyroid","raw_type":"Text"},{"id":"pmid:29676214","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/29676214","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":"Thyroid : official journal of the American Thyroid Association","raw_type":"Case Reports"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:5994679","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5994679","pdf_url":null,"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":"Thyroid","raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9391000270843506}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G3172728306","display_name":"THYROID PHYSIOLOGY STUDIES OF INHERITED DISORDERS","funder_award_id":"R37DK015070","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G408373112","display_name":"Mouse Sbp2 deficiency models the multi-system syndrome of human SBP2 defects","funder_award_id":"R01DK110322","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G9000864893","display_name":"Thyroid Physiology Studies of Inherited Disorders","funder_award_id":"R01DK015070","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G9000911453","display_name":"Integrated Clinical and Basic Endocrinology Research","funder_award_id":"T32DK007011","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"}],"funders":[{"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":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":7,"referenced_works":["https://openalex.org/W2060102665","https://openalex.org/W2061450138","https://openalex.org/W2071459881","https://openalex.org/W2146631175","https://openalex.org/W2150635195","https://openalex.org/W2320831113","https://openalex.org/W2766447271"],"related_works":["https://openalex.org/W2810207163","https://openalex.org/W2122371240","https://openalex.org/W2747505571","https://openalex.org/W2002786999","https://openalex.org/W2944034771","https://openalex.org/W2349936772","https://openalex.org/W1864618048","https://openalex.org/W2763978341","https://openalex.org/W2766447271","https://openalex.org/W2133384179"],"abstract_inverted_index":{"An":[0],"individual":[1],"with":[2,37,68,87],"familial":[3],"dysalbuminemic":[4],"hyperthyroxinemia":[5],"(FDH)":[6],"due":[7],"to":[8,52,76,104,112,118],"a":[9,34,44,120],"homozygous":[10],"mutation":[11],"(c.653G>A,":[12],"p.R218H)":[13],"in":[14,33,47,55,79,82,94,108],"the":[15,69,88,105,109],"human":[16],"serum":[17],"albumin":[18],"(HSA)":[19],"gene":[20],"is":[21,114],"reported.":[22],"The":[23,59,97],"patient":[24],"was":[25],"identified":[26],"during":[27],"evaluation":[28],"of":[29,40,62,73,85,101],"abnormal":[30],"thyroid":[31,77],"tests":[32],"large":[35,70],"family":[36,57],"multiple":[38],"levels":[39],"consanguinity.":[41],"He":[42],"showed":[43],"greater":[45,99],"increase":[46],"total":[48],"thyroxine":[49],"(T4)":[50],"relative":[51,75,111],"that":[53],"observed":[54],"heterozygous":[56,95],"members.":[58],"higher":[60],"affinity":[61],"mutant":[63,89,106],"HSA":[64,74,93,107],"for":[65],"T4,":[66],"together":[67],"molar":[71],"excess":[72],"hormones":[78],"serum,":[80],"results":[81],"preferential":[83],"association":[84],"T4":[86,102,123],"rather":[90],"than":[91],"wild-type":[92],"individuals.":[96],"twofold":[98],"amount":[100],"bound":[103],"homozygote,":[110],"heterozygotes,":[113],"an":[115],"adaptive":[116],"requirement":[117],"maintain":[119],"normal":[121],"free":[122],"concentration.":[124]},"counts_by_year":[{"year":2024,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":2}],"updated_date":"2026-11-01T11:40:01.658920","created_date":"2018-05-17T00:00:00"}
