{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T20:53:10Z","timestamp":1791319990939,"version":"4.3.1"},"reference-count":124,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T00:00:00Z","timestamp":1784764800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000060","name":"National Institute of Allergy and Infectious Diseases","doi-asserted-by":"publisher","award":["R21AI173827"],"award-info":[{"award-number":["R21AI173827"]}],"id":[{"id":"10.13039\/100000060","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["FDN-159926"],"award-info":[{"award-number":["FDN-159926"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005416","name":"Research Council of Norway","doi-asserted-by":"publisher","award":["315599"],"award-info":[{"award-number":["315599"]}],"id":[{"id":"10.13039\/501100005416","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["UM1HG011989"],"award-info":[{"award-number":["UM1HG011989"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["HG010461"],"award-info":[{"award-number":["HG010461"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009708","name":"Novo Nordisk Fonden","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009708","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004191","name":"Novo Nordisk A\/S","doi-asserted-by":"publisher","award":["NNF16OC0021254"],"award-info":[{"award-number":["NNF16OC0021254"]}],"id":[{"id":"10.13039\/501100004191","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2026,9]]},"DOI":"10.1016\/j.ajhg.2026.07.008","type":"journal-article","created":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T15:08:47Z","timestamp":1786028927000},"page":"1873-1893","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Systematic and proactive evaluation of AIRE missense variant effects"],"prefix":"10.1016","volume":"113","author":[{"given":"Anna","family":"Axakova","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amund H.","family":"Berger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Warren","family":"van Loggerenberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nishka","family":"Kishore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marinella","family":"Gebbia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan X.","family":"Ding","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel V.","family":"Douville","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel R.","family":"Tabet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atina G.","family":"Cote","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jochen","family":"Weile","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Johansson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eirik","family":"Bratland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6628-649X","authenticated-orcid":false,"given":"Frederick P.","family":"Roth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2026.07.008_bib1","doi-asserted-by":"crossref","DOI":"10.3390\/biomedicines8120631","article-title":"Novel pathogenic variants of the AIRE gene in two Autoimmune Polyendocrine Syndrome Type I cases with atypical presentation: role of the NGS in diagnostic pathway and review of the literature","volume":"8","author":"Cinque","year":"2020","journal-title":"Biomedicines"},{"key":"10.1016\/j.ajhg.2026.07.008_bib2","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1038\/nri.2016.9","article-title":"AIRE expands: new roles in immune tolerance and beyond","volume":"16","author":"Anderson","year":"2016","journal-title":"Nat. Rev. Immunol."},{"key":"10.1016\/j.ajhg.2026.07.008_bib3","doi-asserted-by":"crossref","first-page":"1927","DOI":"10.1210\/clinem\/dgag060","article-title":"Long-term follow-up of autoimmune polyendocrine syndrome type-1 in Norway","volume":"111","author":"Kucuka","year":"2026","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ajhg.2026.07.008_bib4","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1016\/j.immuni.2015.04.021","article-title":"Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases","volume":"42","author":"Oftedal","year":"2015","journal-title":"Immunity"},{"key":"10.1016\/j.ajhg.2026.07.008_bib5","doi-asserted-by":"crossref","first-page":"2843","DOI":"10.1210\/jc.2005-2611","article-title":"Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy","volume":"91","author":"Perheentupa","year":"2006","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ajhg.2026.07.008_bib6","doi-asserted-by":"crossref","first-page":"2493","DOI":"10.1007\/s40618-021-01585-6","article-title":"Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients","volume":"44","author":"Garelli","year":"2021","journal-title":"J. Endocrinol. Investig."},{"key":"10.1016\/j.ajhg.2026.07.008_bib7","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1111\/j.1365-2796.2009.02090.x","article-title":"Clinical Manifestations and Management of Patients with Autoimmune Polyendocrine Syndrome Type I","volume":"265","author":"Husebye","year":"2009","journal-title":"J. Intern. Med."},{"key":"10.1016\/j.ajhg.2026.07.008_bib8","doi-asserted-by":"crossref","DOI":"10.1016\/j.autrev.2022.103135","article-title":"Autoimmune polyendocrine syndrome type 1: Clinical manifestations, pathogenetic features, and management approach","volume":"21","author":"Bj\u00f8rklund","year":"2022","journal-title":"Autoimmun. Rev."},{"key":"10.1016\/j.ajhg.2026.07.008_bib9","doi-asserted-by":"crossref","first-page":"D980","DOI":"10.1093\/nar\/gkt1113","article-title":"ClinVar: public archive of relationships among sequence variation and human phenotype","volume":"42","author":"Landrum","year":"2014","journal-title":"Nucl. Acids Res."},{"key":"10.1016\/j.ajhg.2026.07.008_bib10","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2026.07.008_bib11","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/j.ajhg.2017.07.014","article-title":"Variant interpretation: functional assays to the rescue","volume":"101","author":"Starita","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2026.07.008_bib12","doi-asserted-by":"crossref","DOI":"10.15252\/msb.20177908","article-title":"A framework for exhaustively mapping functional missense variants","volume":"13","author":"Weile","year":"2017","journal-title":"Mol. Syst. Biol."},{"key":"10.1016\/j.ajhg.2026.07.008_bib13","doi-asserted-by":"crossref","first-page":"1847","DOI":"10.1016\/j.molimm.2007.10.045","article-title":"Functional interaction of AIRE with PIAS1 in transcriptional regulation","volume":"45","author":"Ilmarinen","year":"2008","journal-title":"Mol. Immunol."},{"key":"10.1016\/j.ajhg.2026.07.008_bib14","doi-asserted-by":"crossref","first-page":"13012","DOI":"10.1074\/jbc.M109.037747","article-title":"DAXX is a new AIRE-interacting protein","volume":"285","author":"Meloni","year":"2010","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2026.07.008_bib15","doi-asserted-by":"crossref","first-page":"336","DOI":"10.2337\/db10-0255","article-title":"Both polymorphic variable number of tandem repeats and autoimmune regulator modulate differential expression of insulin in human thymic epithelial cells","volume":"60","author":"Cai","year":"2011","journal-title":"Diabetes"},{"key":"10.1016\/j.ajhg.2026.07.008_bib16","doi-asserted-by":"crossref","first-page":"1354","DOI":"10.1128\/MCB.06359-11","article-title":"Unmodified Histone H3K4 and DNA-Dependent Protein Kinase Recruit Autoimmune Regulator to Target Genes","volume":"32","author":"\u017dumer","year":"2012","journal-title":"Mol. Cell Biol."},{"key":"10.1016\/j.ajhg.2026.07.008_bib17","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1007\/s40618-014-0120-7","article-title":"A novel mutation in autoimmune regulator gene causes autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy","volume":"37","author":"Jin","year":"2014","journal-title":"J. Endocrinol. Investig."},{"key":"10.1016\/j.ajhg.2026.07.008_bib18","doi-asserted-by":"crossref","first-page":"11313","DOI":"10.1074\/jbc.M116.722488","article-title":"Functional Domains of Autoimmune Regulator (AIRE) Modulate INS-VNTR Transcription in Human Thymic Epithelial Cells","volume":"291","author":"Sparks","year":"2016","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2026.07.008_bib19","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1038\/embor.2008.11","article-title":"The Autoimmune Regulator PHD finger binds to non-methylated histone H3K4 to activate gene expression","volume":"9","author":"Org","year":"2008","journal-title":"EMBO Rep."},{"key":"10.1016\/j.ajhg.2026.07.008_bib20","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gkx183","article-title":"A platform for functional assessment of large variant libraries in mammalian cells","volume":"45","author":"Matreyek","year":"2017","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2026.07.008_bib21","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1038\/nmeth.1318","article-title":"Enzymatic assembly of DNA molecules up to several hundred kilobases","volume":"6","author":"Gibson","year":"2009","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2026.07.008_bib22","doi-asserted-by":"crossref","first-page":"25065","DOI":"10.1074\/jbc.M110.214486","article-title":"Structure-function analysis of core STRIPAK Proteins: a signaling complex implicated in Golgi polarization","volume":"286","author":"Kean","year":"2011","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2026.07.008_bib23","doi-asserted-by":"crossref","first-page":"eady7186","DOI":"10.1126\/science.ady7186","article-title":"The functional landscape of coding variation in the familial hypercholesterolemia gene LDLR","volume":"391","author":"Tabet","year":"2026","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2026.07.008_bib24","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/s13073-020-0711-1","article-title":"A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase","volume":"12","author":"Sun","year":"2020","journal-title":"Genome Med."},{"key":"10.1016\/j.ajhg.2026.07.008_bib25","doi-asserted-by":"crossref","first-page":"1769","DOI":"10.1016\/j.ajhg.2023.08.012","article-title":"Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation","volume":"110","author":"van Loggerenberg","year":"2023","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2026.07.008_bib26","doi-asserted-by":"crossref","first-page":"2295","DOI":"10.1016\/j.ajhg.2025.08.019","article-title":"Landscapes of missense variant impact for human superoxide dismutase 1","volume":"112","author":"Axakova","year":"2025","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2026.07.008_bib27","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1038\/s41586-024-07487-w","article-title":"Accurate structure prediction of biomolecular interactions with AlphaFold 3","volume":"630","author":"Abramson","year":"2024","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2026.07.008_bib28","doi-asserted-by":"crossref","DOI":"10.1002\/pro.70208","article-title":"DSSP 4: FAIR annotation of protein secondary structure","volume":"34","author":"Hekkelman","year":"2025","journal-title":"Protein Sci."},{"key":"10.1016\/j.ajhg.2026.07.008_bib29","doi-asserted-by":"crossref","first-page":"2951","DOI":"10.1093\/nar\/gkp166","article-title":"The solution structure of the first PHD finger of autoimmune regulator in complex with non-modified histone H3 tail reveals the antagonistic role of H3R2 methylation","volume":"37","author":"Chignola","year":"2009","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2026.07.008_bib30","doi-asserted-by":"crossref","first-page":"189","DOI":"10.12688\/f1000research.7931.1","article-title":"FreeSASA: An open source C library for solvent accessible surface area calculations","volume":"5","author":"Mitternacht","year":"2016","journal-title":"F1000Res."},{"key":"10.1016\/j.ajhg.2026.07.008_bib31","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.07454","article-title":"Contacts-based prediction of binding affinity in protein-protein complexes","volume":"4","author":"Vangone","year":"2015","journal-title":"eLife"},{"key":"10.1016\/j.ajhg.2026.07.008_bib32","doi-asserted-by":"crossref","first-page":"3676","DOI":"10.1093\/bioinformatics\/btw514","article-title":"PRODIGY: a web server for predicting the binding affinity of protein-protein complexes","volume":"32","author":"Xue","year":"2016","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2026.07.008_bib33","doi-asserted-by":"crossref","first-page":"1283","DOI":"10.1016\/j.ajhg.2021.05.009","article-title":"Shifting landscapes of human MTHFR missense-variant effects","volume":"108","author":"Weile","year":"2021","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2026.07.008_bib34","doi-asserted-by":"crossref","first-page":"1891","DOI":"10.1016\/j.ajhg.2021.08.012","article-title":"Improved pathogenicity prediction for rare human missense variants","volume":"108","author":"Wu","year":"2021","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2026.07.008_bib35","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1137\/1114019","article-title":"Non-parametric estimation of a multivariate probability density","volume":"14","author":"Epanechnikov","year":"1969","journal-title":"Theory Probab. Appl."},{"key":"10.1016\/j.ajhg.2026.07.008_bib36","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1093\/biomet\/66.3.605","article-title":"On optimal and data-based histograms","volume":"66","author":"Scott","year":"1979","journal-title":"Biometrika"},{"key":"10.1016\/j.ajhg.2026.07.008_bib37","doi-asserted-by":"crossref","first-page":"1054","DOI":"10.1038\/gim.2017.210","article-title":"Modeling the ACMG\/AMP variant classification guidelines as a Bayesian classification framework","volume":"20","author":"Tavtigian","year":"2018","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2026.07.008_bib38","doi-asserted-by":"crossref","first-page":"1734","DOI":"10.1002\/humu.24088","article-title":"Fitting a naturally scaled point system to the ACMG\/AMP variant classification guidelines","volume":"41","author":"Tavtigian","year":"2020","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2026.07.008_bib39","doi-asserted-by":"crossref","first-page":"2975","DOI":"10.1210\/jc.2016-1821","article-title":"A longitudinal follow-up of autoimmune polyendocrine syndrome type 1","volume":"101","author":"Bruserud","year":"2016","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ajhg.2026.07.008_bib40","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1530\/EC-17-0022","article-title":"Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study","volume":"6","author":"Zaidi","year":"2017","journal-title":"Endocr. Connect."},{"key":"10.1016\/j.ajhg.2026.07.008_bib41","doi-asserted-by":"crossref","first-page":"3546","DOI":"10.1210\/jc.2017-00139","article-title":"Expanding the phenotypic and genotypic landscape of autoimmune polyendocrine syndrome type 1","volume":"102","author":"Orlova","year":"2017","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ajhg.2026.07.008_bib42","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1507\/endocrj.49.625","article-title":"A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: case report and review of the literature in Japan","volume":"49","author":"Sato","year":"2002","journal-title":"Endocr. J."},{"key":"10.1016\/j.ajhg.2026.07.008_bib43","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1515\/jpem-2016-0276","article-title":"Unexplained cyanosis caused by hepatopulmonary syndrome in a girl with APECED syndrome","volume":"30","author":"Celmeli","year":"2017","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"10.1016\/j.ajhg.2026.07.008_bib44","doi-asserted-by":"crossref","first-page":"1675","DOI":"10.1086\/302145","article-title":"A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1","volume":"63","author":"Pearce","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2026.07.008_bib45","article-title":"A case report and literature review: Identification of a novel AIRE gene mutation associated with Autoimmune Polyendocrine Syndrome Type 1 in East Asians","volume":"99","author":"Yan","year":"2020","journal-title":"Medicine (Baltim.)"},{"key":"10.1016\/j.ajhg.2026.07.008_bib46","doi-asserted-by":"crossref","first-page":"1086","DOI":"10.1097\/ICO.0000000000000513","article-title":"Keratopathy in autoimmune polyendocrinopathy syndrome type 1","volume":"34","author":"Couturier","year":"2015","journal-title":"Cornea"},{"key":"10.1016\/j.ajhg.2026.07.008_bib47","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/j.clim.2010.12.021","article-title":"Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome","volume":"139","author":"Mazza","year":"2011","journal-title":"Clin. Immunol."},{"key":"10.1016\/j.ajhg.2026.07.008_bib48","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1530\/EJE-08-0328","article-title":"Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1","volume":"159","author":"Podkrajsek","year":"2008","journal-title":"Eur. J. Endocrinol."},{"key":"10.1016\/j.ajhg.2026.07.008_bib49","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1016\/j.annder.2014.01.012","article-title":"Diagnostic pr\u00e9coce du syndrome APECED : un d\u00e9fi pour le dermatologue","volume":"141","author":"Puzenat","year":"2014","journal-title":"Ann. Dermatol. Venereol."},{"key":"10.1016\/j.ajhg.2026.07.008_bib50","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1186\/s12882-023-03240-z","article-title":"Clinical utility of genetic testing in Indian children with kidney diseases","volume":"24","author":"Saha","year":"2023","journal-title":"BMC Nephrol."},{"key":"10.1016\/j.ajhg.2026.07.008_bib51","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1111\/cen.13111","article-title":"Identification of autoimmune polyendocrine syndrome type 1 in patients with isolated hypoparathyroidism","volume":"85","author":"Sahoo","year":"2016","journal-title":"Clin. Endocrinol."},{"key":"10.1016\/j.ajhg.2026.07.008_bib52","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1002\/humu.9309","article-title":"Two novel mutations of the AIRE protein affecting its homodimerization properties","volume":"25","author":"Meloni","year":"2005","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2026.07.008_bib53","doi-asserted-by":"crossref","DOI":"10.1101\/mcs.a002485","article-title":"Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1","volume":"4","author":"Sanford","year":"2018","journal-title":"Cold Spring Harb. Mol. Case Stud."},{"key":"10.1016\/j.ajhg.2026.07.008_bib54","doi-asserted-by":"crossref","first-page":"2254","DOI":"10.1002\/jbmr.3854","article-title":"Genetic screening in a large Chinese cohort of childhood onset hypoparathyroidism by next-generation sequencing combined with TBX1-MLPA","volume":"34","author":"Wang","year":"2019","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.ajhg.2026.07.008_bib55","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1530\/EJE-07-0843","article-title":"Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison\u2019s disease","volume":"158","author":"F Magitta","year":"2008","journal-title":"Eur. J. Endocrinol."},{"key":"10.1016\/j.ajhg.2026.07.008_bib56","first-page":"844","article-title":"Severe autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy in an adolescent girl with a novel AIRE mutation: response to immunosuppressive therapy","volume":"84","author":"Ward","year":"1999","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ajhg.2026.07.008_bib57","doi-asserted-by":"crossref","first-page":"1343","DOI":"10.1515\/JPEM.2006.19.11.1343","article-title":"Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population","volume":"19","author":"Dominguez","year":"2006","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"10.1016\/j.ajhg.2026.07.008_bib58","doi-asserted-by":"crossref","first-page":"1835","DOI":"10.3389\/fimmu.2018.01835","article-title":"A novel homozygous mutation of the AIRE gene in an APECED patient from Pakistan: Case report and review of the literature","volume":"9","author":"Pellegrino","year":"2018","journal-title":"Front. Immunol."},{"key":"10.1016\/j.ajhg.2026.07.008_bib59","doi-asserted-by":"crossref","first-page":"4747","DOI":"10.1210\/jcem.86.10.7884","article-title":"A novel mutation of the autoimmune regulator gene in an Italian kindred with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis","volume":"86","author":"Cetani","year":"2001","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ajhg.2026.07.008_bib60","doi-asserted-by":"crossref","first-page":"6512","DOI":"10.1007\/s00415-022-11325-2","article-title":"Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases","volume":"269","author":"Jafarpour","year":"2022","journal-title":"J. Neurol."},{"key":"10.1016\/j.ajhg.2026.07.008_bib61","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1016\/j.jaut.2017.10.010","article-title":"Dominant-negative loss of function arises from a second, more frequent variant within the SAND domain of autoimmune regulator (AIRE)","volume":"88","author":"Abbott","year":"2018","journal-title":"J. Autoimmun."},{"key":"10.1016\/j.ajhg.2026.07.008_bib62","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1016\/j.gene.2014.07.064","article-title":"The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant","volume":"549","author":"Bellacchio","year":"2014","journal-title":"Gene"},{"key":"10.1016\/j.ajhg.2026.07.008_bib63","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.clim.2008.07.002","article-title":"Radioimmunoassay for autoantibodies against interferon omega; its use in the diagnosis of autoimmune polyendocrine syndrome type I","volume":"129","author":"Oftedal","year":"2008","journal-title":"Clin. Immunol."},{"key":"10.1016\/j.ajhg.2026.07.008_bib64","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1111\/j.1399-0004.2006.00690.x","article-title":"Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence","volume":"70","author":"Stolarski","year":"2006","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ajhg.2026.07.008_bib65","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1053\/jhep.2001.24031","article-title":"Autoimmune regulator AIRE: evidence for genetic differences between autoimmune hepatitis and hepatitis as part of the autoimmune polyglandular syndrome type 1","volume":"33","author":"Vogel","year":"2001","journal-title":"Hepatology"},{"key":"10.1016\/j.ajhg.2026.07.008_bib66","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1159\/000526221","article-title":"Left ventricular systolic dysfunction related to adrenal insufficiency in a case due to autoimmune polyendocrine syndrome type 1 with a novel variant","volume":"14","author":"\u00d6zer","year":"2023","journal-title":"Mol. Syndromol."},{"key":"10.1016\/j.ajhg.2026.07.008_bib67","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1186\/s13073-019-0690-2","article-title":"Recommendations for application of the functional evidence PS3\/BS3 criterion using the ACMG\/AMP sequence variant interpretation framework","volume":"12","author":"Brnich","year":"2019","journal-title":"Genome Med."},{"key":"10.1016\/j.ajhg.2026.07.008_bib68","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1016\/j.ajhg.2016.08.016","article-title":"REVEL: An Ensemble method for predicting the pathogenicity of rare missense variants","volume":"99","author":"Ioannidis","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2026.07.008_bib69","doi-asserted-by":"crossref","DOI":"10.1126\/science.adg7492","article-title":"Accurate proteome-wide missense variant effect prediction with AlphaMissense","volume":"381","author":"Cheng","year":"2023","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2026.07.008_bib70","doi-asserted-by":"crossref","first-page":"1337","DOI":"10.1126\/science.6362005","article-title":"Insulin antibodies in insulin-dependent diabetics before insulin treatment","volume":"222","author":"Palmer","year":"1983","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2026.07.008_bib71","doi-asserted-by":"crossref","first-page":"130","DOI":"10.2337\/diab.37.1.130","article-title":"Evidence of IgG autoantibodies against human proinsulin in patients with IDDM before insulin treatment","volume":"37","author":"Kuglin","year":"1988","journal-title":"Diabetes"},{"key":"10.1016\/j.ajhg.2026.07.008_bib72","doi-asserted-by":"crossref","first-page":"2317","DOI":"10.1007\/s00125-015-3672-y","article-title":"Islet autoantibody phenotypes and incidence in children at increased risk for type 1 diabetes","volume":"58","author":"Giannopoulou","year":"2015","journal-title":"Diabetologia"},{"key":"10.1016\/j.ajhg.2026.07.008_bib73","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1038\/ni.3675","article-title":"The transcriptional regulator Aire binds to and activates super-enhancers","volume":"18","author":"Bansal","year":"2017","journal-title":"Nat. Immunol."},{"key":"10.1016\/j.ajhg.2026.07.008_bib74","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.cell.2009.12.030","article-title":"Aire\u2019s Partners in the Molecular Control of Immunological Tolerance","volume":"140","author":"Abramson","year":"2010","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2026.07.008_bib75","doi-asserted-by":"crossref","first-page":"E4448","DOI":"10.1073\/pnas.1512081112","article-title":"Brd4 bridges the transcriptional regulators, Aire and P-TEFb, to promote elongation of peripheral-tissue antigen transcripts in thymic stromal cells","volume":"112","author":"Yoshida","year":"2015","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2026.07.008_bib76","doi-asserted-by":"crossref","first-page":"17953","DOI":"10.1074\/jbc.M116.724401","article-title":"FBXO3 Protein Promotes Ubiquitylation and Transcriptional Activity of AIRE (Autoimmune Regulator)","volume":"291","author":"Shao","year":"2016","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2026.07.008_bib77","doi-asserted-by":"crossref","first-page":"1625","DOI":"10.1038\/s41467-020-15448-w","article-title":"Dual functions of Aire CARD multimerization in the transcriptional regulation of T cell tolerance","volume":"11","author":"Huoh","year":"2020","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2026.07.008_bib78","doi-asserted-by":"crossref","first-page":"4699","DOI":"10.1093\/hmg\/ddp433","article-title":"AIRE activated tissue specific genes have histone modifications associated with inactive chromatin","volume":"18","author":"Org","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2026.07.008_bib79","doi-asserted-by":"crossref","first-page":"874","DOI":"10.1038\/s41588-018-0122-z","article-title":"Multiplex assessment of protein variant abundance by massively parallel sequencing","volume":"50","author":"Matreyek","year":"2018","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2026.07.008_bib80","first-page":"e1","article-title":"An improved platform for functional assessment of large protein libraries in mammalian cells","volume":"48","author":"Matreyek","year":"2020","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2026.07.008_bib81","doi-asserted-by":"crossref","DOI":"10.1371\/annotation\/947a8d4a-3585-4b23-ac84-b47a255a70d9","article-title":"Insulin Gene Expression Is Regulated by DNA Methylation","volume":"4","author":"Kuroda","year":"2009","journal-title":"PLoS One"},{"key":"10.1016\/j.ajhg.2026.07.008_bib82","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1101\/gr.239756.118","article-title":"Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations","volume":"29","author":"Kaplanis","year":"2019","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2026.07.008_bib83","doi-asserted-by":"crossref","first-page":"9205","DOI":"10.1073\/pnas.0403255101","article-title":"Protein tolerance to random amino acid change","volume":"101","author":"Guo","year":"2004","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2026.07.008_bib84","doi-asserted-by":"crossref","first-page":"1306","DOI":"10.1126\/science.2315699","article-title":"Deciphering the message in protein sequences: tolerance to amino acid substitutions","volume":"247","author":"Bowie","year":"1990","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2026.07.008_bib85","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1038\/s41586-021-03819-2","article-title":"Highly accurate protein structure prediction with AlphaFold","volume":"596","author":"Jumper","year":"2021","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2026.07.008_bib86","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0053785","article-title":"Proline: the distribution, frequency, positioning, and common functional roles of proline and polyproline sequences in the human proteome","volume":"8","author":"Morgan","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.ajhg.2026.07.008_bib87","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1534\/genetics.117.300064","article-title":"Analysis of large-scale Mutagenesis data to assess the impact of single amino acid substitutions","volume":"207","author":"Gray","year":"2017","journal-title":"Genetics"},{"key":"10.1016\/j.ajhg.2026.07.008_bib88","doi-asserted-by":"crossref","DOI":"10.15252\/msb.202110305","article-title":"Exploring amino acid functions in a deep mutational landscape","volume":"17","author":"Dunham","year":"2021","journal-title":"Mol. Syst. Biol."},{"key":"10.1016\/j.ajhg.2026.07.008_bib89","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1038\/ng1297-399","article-title":"An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains","volume":"17","year":"1997","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2026.07.008_bib90","doi-asserted-by":"crossref","first-page":"626","DOI":"10.1038\/89675","article-title":"The SAND domain structure defines a novel DNA-binding fold in transcriptional regulation","volume":"8","author":"Bottomley","year":"2001","journal-title":"Nat. Struct. Biol."},{"key":"10.1016\/j.ajhg.2026.07.008_bib91","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1038\/s41586-024-07169-7","article-title":"AIRE relies on Z-DNA to flag gene targets for thymic T cell tolerization","volume":"628","author":"Fang","year":"2024","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2026.07.008_bib92","doi-asserted-by":"crossref","first-page":"15878","DOI":"10.1073\/pnas.0808470105","article-title":"Aire employs a histone-binding module to mediate immunological tolerance, linking chromatin regulation with organ-specific autoimmunity","volume":"105","author":"Koh","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2026.07.008_bib93","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2022.948419","article-title":"The AIRE G228W mutation disturbs the interaction of AIRE with its partner molecule SIRT1","volume":"13","author":"Santos","year":"2022","journal-title":"Front. Immunol."},{"key":"10.1016\/j.ajhg.2026.07.008_bib94","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1086\/302765","article-title":"Mutations in the AIRE Gene: Effects on Subcellular Location and Transactivation Function of the Autoimmune Polyendocrinopathy-Candidiasis\u2013Ectodermal Dystrophy Protein","volume":"66","author":"Bj\u00f6rses","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2026.07.008_bib95","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1002\/humu.20003","article-title":"APECED-causing mutations in AIRE reveal the functional domains of the protein","volume":"23","author":"Halonen","year":"2004","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2026.07.008_bib96","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1016\/j.bbrc.2005.05.187","article-title":"Cooperative activation of transcription by autoimmune regulator AIRE and CBP","volume":"333","author":"Pitk\u00e4nen","year":"2005","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ajhg.2026.07.008_bib97","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1016\/j.molimm.2007.06.156","article-title":"Role of PHD fingers and COOH-terminal 30 amino acids in AIRE transactivation activity","volume":"45","author":"Meloni","year":"2008","journal-title":"Mol. Immunol."},{"key":"10.1016\/j.ajhg.2026.07.008_bib98","doi-asserted-by":"crossref","first-page":"19597","DOI":"10.1074\/jbc.M008322200","article-title":"Subcellular localization of the autoimmune regulator protein. characterization of nuclear targeting and transcriptional activation domain","volume":"276","author":"Pitk\u00e4nen","year":"2001","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2026.07.008_bib99","doi-asserted-by":"crossref","first-page":"1512","DOI":"10.1038\/s41588-023-01465-0","article-title":"Genome-wide prediction of disease variant effects with a deep protein language model","volume":"55","author":"Brandes","year":"2023","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2026.07.008_bib100","doi-asserted-by":"crossref","first-page":"11505","DOI":"10.1074\/jbc.M413959200","article-title":"NMR structure of the first PHD finger of Autoimmune Regulator Protein (AIRE1): Insights into Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) disease","volume":"280","author":"Bottomley","year":"2005","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2026.07.008_bib101","doi-asserted-by":"crossref","first-page":"1580","DOI":"10.1038\/s41590-024-01922-w","article-title":"Mechanism for controlled assembly of transcriptional condensates by Aire","volume":"25","author":"Huoh","year":"2024","journal-title":"Nat. Immunol."},{"key":"10.1016\/j.ajhg.2026.07.008_bib102","doi-asserted-by":"crossref","first-page":"D439","DOI":"10.1093\/nar\/gkab1061","article-title":"AlphaFold Protein Structure Database: massively expanding the structural coverage of protein-sequence space with high-accuracy models","volume":"50","author":"Varadi","year":"2022","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2026.07.008_bib103","doi-asserted-by":"crossref","first-page":"3093","DOI":"10.1016\/j.jmb.2019.11.015","article-title":"The Ambivalent Role of Proline Residues in an Intrinsically Disordered Protein: From Disorder Promoters to Compaction Facilitators","volume":"432","author":"Mateos","year":"2020","journal-title":"J. Mol. Biol."},{"key":"10.1016\/j.ajhg.2026.07.008_bib104","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1111\/j.1742-4658.2005.05065.x","article-title":"The monopartite nuclear localization signal of autoimmune regulator mediates its nuclear import and interaction with multiple importin alpha molecules","volume":"273","author":"Ilmarinen","year":"2006","journal-title":"FEBS J."},{"key":"10.1016\/j.ajhg.2026.07.008_bib105","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1002\/pro.5560030501","article-title":"A role for surface hydrophobicity in protein-protein recognition","volume":"3","author":"Young","year":"1994","journal-title":"Protein Sci."},{"key":"10.1016\/j.ajhg.2026.07.008_bib106","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","article-title":"SIFT: Predicting amino acid changes that affect protein function","volume":"31","author":"Ng","year":"2003","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2026.07.008_bib107","doi-asserted-by":"crossref","first-page":"3761","DOI":"10.1038\/s41467-021-24051-6","article-title":"Genome-wide association study identifies five risk loci for pernicious anemia","volume":"12","author":"Laisk","year":"2021","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2026.07.008_bib108","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1038\/s41586-021-03552-w","article-title":"Interpreting type 1 diabetes risk with genetics and single-cell epigenomics","volume":"594","author":"Chiou","year":"2021","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2026.07.008_bib109","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1038\/s41467-021-21015-8","article-title":"GWAS for autoimmune Addison\u2019s disease identifies multiple risk loci and highlights AIRE in disease susceptibility","volume":"12","author":"Eriksson","year":"2021","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2026.07.008_bib110","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1097\/ACI.0000000000001041","article-title":"Where AIRE we now? Where AIRE we going?","volume":"24","author":"Bez","year":"2024","journal-title":"Curr. Opin. Allergy Clin. Immunol."},{"key":"10.1016\/j.ajhg.2026.07.008_bib111","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2025.1572789","article-title":"High-resolution transcriptional impact of AIRE: effects of pathogenic variants p.Arg257Ter, p.Cys311Tyr, and polygenic risk variant p.Arg471Cys","volume":"16","author":"Berger","year":"2025","journal-title":"Front. Immunol."},{"key":"10.1016\/j.ajhg.2026.07.008_bib112","doi-asserted-by":"crossref","first-page":"1712","DOI":"10.1172\/JCI34523","article-title":"Mechanisms of an autoimmunity syndrome in mice caused by a dominant mutation in Aire","volume":"118","author":"Su","year":"2008","journal-title":"J. Clin. Investig."},{"key":"10.1016\/j.ajhg.2026.07.008_bib113","doi-asserted-by":"crossref","DOI":"10.1084\/jem.20201076","article-title":"Mechanistic dissection of dominant AIRE mutations in mouse models reveals AIRE autoregulation","volume":"218","author":"Goldfarb","year":"2021","journal-title":"J. Exp. Med."},{"key":"10.1016\/j.ajhg.2026.07.008_bib114","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1002\/humu.20224","article-title":"Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation","volume":"26","author":"Ilmarinen","year":"2005","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2026.07.008_bib115","doi-asserted-by":"crossref","DOI":"10.1016\/j.isci.2023.106818","article-title":"Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes","volume":"26","author":"Oftedal","year":"2023","journal-title":"iScience"},{"key":"10.1016\/j.ajhg.2026.07.008_bib116","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pmed.1001779","article-title":"UK biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age","volume":"12","author":"Sudlow","year":"2015","journal-title":"PLoS Med."},{"key":"10.1016\/j.ajhg.2026.07.008_bib117","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1016\/j.molmed.2016.09.007","article-title":"Family-Specific Variants and the Limits of Human Genetics","volume":"22","author":"Shirts","year":"2016","journal-title":"Trends Mol. Med."},{"key":"10.1016\/j.ajhg.2026.07.008_bib118","doi-asserted-by":"crossref","first-page":"942","DOI":"10.1038\/ni.3247","article-title":"Aire controls gene expression in the thymic epithelium with ordered stochasticity","volume":"16","author":"Meredith","year":"2015","journal-title":"Nat. Immunol."},{"key":"10.1016\/j.ajhg.2026.07.008_bib119","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1111\/j.0105-2896.2005.00246.x","article-title":"AIRE and APECED: molecular insights into an autoimmune disease","volume":"204","author":"Villase\u00f1or","year":"2005","journal-title":"Immunol. Rev."},{"key":"10.1016\/j.ajhg.2026.07.008_bib120","doi-asserted-by":"crossref","DOI":"10.15252\/msb.20209442","article-title":"High-throughput, microscope-based sorting to dissect cellular heterogeneity","volume":"16","author":"Hasle","year":"2020","journal-title":"Mol. Syst. Biol."},{"key":"10.1016\/j.ajhg.2026.07.008_bib121","doi-asserted-by":"crossref","first-page":"1380","DOI":"10.3389\/fimmu.2018.01380","article-title":"Meta-Analysis of Autoimmune Regulator-Regulated Genes in Human and Murine Models: A Novel Human Model Provides Insights on the Role of Autoimmune Regulator in Regulating STAT1 and STAT1-Regulated Genes","volume":"9","author":"Lovewell","year":"2018","journal-title":"Front. Immunol."},{"key":"10.1016\/j.ajhg.2026.07.008_bib123","doi-asserted-by":"crossref","first-page":"2281","DOI":"10.1016\/j.ajhg.2025.08.014","article-title":"Availability of benign missense variant \u201ctruthsets\u201d for validation of functional assays: Current status and a systematic approach","volume":"112","author":"Rowlands","year":"2025","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2026.07.008_bib124","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1186\/s13059-023-02986-x","article-title":"An Atlas of Variant Effects to understand the genome at nucleotide resolution","volume":"24","author":"Fowler","year":"2023","journal-title":"Genome Biol."},{"key":"10.1016\/j.ajhg.2026.07.008_bib125","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1186\/s13059-019-1845-6","article-title":"MaveDB: an Open-Source Platform to Distribute and Interpret Data from Multiplexed Assays of Variant Effect","volume":"20","author":"Esposito","year":"2019","journal-title":"Genome Biol."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929726002740?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929726002740?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T20:28:03Z","timestamp":1791318483000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929726002740"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9]]},"references-count":124,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["S0002929726002740"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2026.07.008","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2026,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Systematic and proactive evaluation of AIRE missense variant effects","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2026.07.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Authors. Published by Elsevier Inc. on behalf of American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}