{"id":"https://openalex.org/W2046442010","doi":"https://doi.org/10.1530/endoabs.31.oc2.5","title":"A mutation in thioredoxin reductase 2 (TXNRD2) is associated with a predominantly adrenal phenotype in humans","display_name":"A mutation in thioredoxin reductase 2 (TXNRD2) is associated with a predominantly adrenal phenotype in humans","publication_year":2013,"publication_date":"2013-03-01","ids":{"openalex":"https://openalex.org/W2046442010","doi":"https://doi.org/10.1530/endoabs.31.oc2.5","mag":"2046442010"},"language":"en","primary_location":{"id":"doi:10.1530/endoabs.31.oc2.5","doi":"https://doi.org/10.1530/endoabs.31.oc2.5","is_oa":false,"landing_page_url":"https://doi.org/10.1530/endoabs.31.oc2.5","pdf_url":null,"source":{"id":"https://openalex.org/S4306509401","display_name":"Endocrine Abstracts","issn_l":"1470-3947","issn":["1470-3947","1479-6848","2046-0368"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":"https://openalex.org/P4310319937","host_organization_name":"Bioscientifica","host_organization_lineage":["https://openalex.org/P4310319937"],"host_organization_lineage_names":["Bioscientifica"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Endocrine Abstracts","raw_type":"journal-article"},"volume":null,"type":"conference-abstract","is_traditional":false,"indexed_in":["crossref"],"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/A5047882749","display_name":"Rathi Prasad","orcid":"https://orcid.org/0000-0001-6360-7246","observed_orcids":["https://orcid.org/0000-0001-6360-7246"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rathi Prasad","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066210570","display_name":"Claire R. Hughes","orcid":"https://orcid.org/0000-0003-1434-1773","observed_orcids":["https://orcid.org/0000-0003-1434-1773"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Claire Hughes","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100751940","display_name":"Chan Li","orcid":"https://orcid.org/0000-0002-7922-8053","observed_orcids":["https://orcid.org/0000-0002-7922-8053"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Li Chan","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076852830","display_name":"Catherine J. Peters","orcid":"https://orcid.org/0000-0003-1423-3529","observed_orcids":["https://orcid.org/0000-0003-1423-3529"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Catherine Peters","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000414882","display_name":"Nisha Nathwani","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Nisha Nathwani","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108361840","display_name":"Adrian Clark","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Adrian Clark","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053984852","display_name":"Helen Louise Storr","orcid":"https://orcid.org/0000-0002-9963-1931","observed_orcids":["https://orcid.org/0000-0002-9963-1931"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Helen Storr","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5026610897","display_name":"Louise Metherell","orcid":"https://orcid.org/0000-0002-0530-3524","observed_orcids":["https://orcid.org/0000-0002-0530-3524"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Louise Metherell","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":"1","last_page":"1"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12421","display_name":"Adrenal Hormones and Disorders","score":0.3366999924182892,"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/T12421","display_name":"Adrenal Hormones and Disorders","score":0.3366999924182892,"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":0.16329999268054962,"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/T11956","display_name":"Sexual Differentiation and Disorders","score":0.08049999922513962,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/txnrd2","display_name":"TXNRD2","score":0.9990000128746033},{"id":"https://openalex.org/keywords/mutation","display_name":"genetic mutations","score":0.7910000085830688},{"id":"https://openalex.org/keywords/adrenal-insufficiency","display_name":"adrenal insufficiency","score":0.675000011920929},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.574999988079071}],"concepts":[{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.7510143518447876},{"id":"https://openalex.org/C2777737464","wikidata":"https://www.wikidata.org/wiki/Q2540636","display_name":"Thioredoxin reductase","level":4,"score":0.5448552966117859},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5190747380256653},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5036877989768982},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3742918372154236},{"id":"https://openalex.org/C3623737","wikidata":"https://www.wikidata.org/wiki/Q421219","display_name":"Thioredoxin","level":3,"score":0.3543012738227844},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.16857153177261353}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1530/endoabs.31.oc2.5","doi":"https://doi.org/10.1530/endoabs.31.oc2.5","is_oa":false,"landing_page_url":"https://doi.org/10.1530/endoabs.31.oc2.5","pdf_url":null,"source":{"id":"https://openalex.org/S4306509401","display_name":"Endocrine Abstracts","issn_l":"1470-3947","issn":["1470-3947","1479-6848","2046-0368"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":"https://openalex.org/P4310319937","host_organization_name":"Bioscientifica","host_organization_lineage":["https://openalex.org/P4310319937"],"host_organization_lineage_names":["Bioscientifica"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Endocrine Abstracts","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9391000270843506}],"study_designs":[],"awards":[{"id":"https://openalex.org/G7158984500","display_name":"Antioxidant defence in adrenocortical cells","funder_award_id":"MR/K020455/1","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"}],"funders":[{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W180572594","https://openalex.org/W4389039118","https://openalex.org/W4401318009","https://openalex.org/W1983428384","https://openalex.org/W6996893996","https://openalex.org/W4416347764","https://openalex.org/W4410262429","https://openalex.org/W3160904450","https://openalex.org/W2549922432","https://openalex.org/W2937391471"],"abstract_inverted_index":null,"counts_by_year":[{"year":2019,"cited_by_count":1}],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2016-06-24T00:00:00"}
