{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T13:57:11Z","timestamp":1792591031739,"version":"4.5.0"},"reference-count":50,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2018,6,1]],"date-time":"2018-06-01T00:00:00Z","timestamp":1527811200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,6,1]],"date-time":"2018-06-01T00:00:00Z","timestamp":1527811200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2018,12,7]],"date-time":"2018-12-07T00:00:00Z","timestamp":1544140800000},"content-version":"vor","delay-in-days":189,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R35NS105078"],"award-info":[{"award-number":["R35NS105078"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U01 HG007709"],"award-info":[{"award-number":["U01 HG007709"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001245","name":"Jeffrey Modell Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001245","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000060","name":"National Institute of Allergy and Infectious Diseases","doi-asserted-by":"publisher","award":["R01AI120989"],"award-info":[{"award-number":["R01AI120989"]}],"id":[{"id":"10.13039\/100000060","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["U01 HG006542"],"award-info":[{"award-number":["U01 HG006542"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","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":[[2018,6]]},"DOI":"10.1016\/j.ajhg.2018.04.010","type":"journal-article","created":{"date-parts":[[2018,5,24]],"date-time":"2018-05-24T10:37:30Z","timestamp":1527158250000},"page":"1126-1142","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":167,"title":["Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome"],"prefix":"10.1016","volume":"102","author":[{"given":"M. Cecilia","family":"Poli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Ebstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah K.","family":"Nicholas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marietta M.","family":"de Guzman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa R.","family":"Forbes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan K.","family":"Chinn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily M.","family":"Mace","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiphanie P.","family":"Vogel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre F.","family":"Carisey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felipe","family":"Benavides","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeynep H.","family":"Coban-Akdemir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard A.","family":"Gibbs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shalini N.","family":"Jhangiani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna M.","family":"Muzny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia M.B.","family":"Carvalho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah A.","family":"Schady","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahim","family":"Jain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill A.","family":"Rosenfeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Emrick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard A.","family":"Lewis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brendan","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara A.","family":"Zieba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9bastien","family":"K\u00fcry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elke","family":"Kr\u00fcger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James R.","family":"Lupski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bret L.","family":"Bostwick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7117-7725","authenticated-orcid":false,"given":"Jordan S.","family":"Orange","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2018.04.010_bib1","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1007\/s10875-015-0198-5","article-title":"The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies","volume":"35","author":"Bousfiha","year":"2015","journal-title":"J.\u00a0Clin. Immunol."},{"key":"10.1016\/j.ajhg.2018.04.010_bib2","doi-asserted-by":"crossref","first-page":"E7128","DOI":"10.1073\/pnas.1521651112","article-title":"Severe infectious diseases of childhood as monogenic inborn errors of immunity","volume":"112","author":"Casanova","year":"2015","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2018.04.010_bib3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/jclinpath-2016-203810","article-title":"Autoinflammatory diseases: update on classification diagnosis and management","volume":"70","author":"Pathak","year":"2017","journal-title":"J.\u00a0Clin. Pathol."},{"key":"10.1016\/j.ajhg.2018.04.010_bib4","doi-asserted-by":"crossref","first-page":"4196","DOI":"10.1172\/JCI81260","article-title":"Additive loss-of-function proteasome subunit mutations in CANDLE\/PRAAS patients promote type I IFN production","volume":"125","author":"Brehm","year":"2015","journal-title":"J.\u00a0Clin. Invest."},{"key":"10.1016\/j.ajhg.2018.04.010_bib5","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/j.rdc.2017.04.011","article-title":"Genomics, Biology, and Human Illness: Advances in the Monogenic Autoinflammatory Diseases","volume":"43","author":"Oda","year":"2017","journal-title":"Rheum. Dis. Clin. North Am."},{"key":"10.1016\/j.ajhg.2018.04.010_bib6","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1038\/ni.3777","article-title":"The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation","volume":"18","author":"Manthiram","year":"2017","journal-title":"Nat. Immunol."},{"key":"10.1016\/j.ajhg.2018.04.010_bib7","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.clim.2016.07.018","article-title":"The proteasome - victim or culprit in autoimmunity","volume":"172","author":"Feist","year":"2016","journal-title":"Clin. Immunol."},{"key":"10.1016\/j.ajhg.2018.04.010_bib8","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1002\/humu.22939","article-title":"MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child","volume":"37","author":"Gatz","year":"2016","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2018.04.010_bib9","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1006\/jmbi.2000.3959","article-title":"Characterisation of the newly identified human Ump1 homologue POMP and analysis of LMP7(beta 5i) incorporation into 20S proteasomes","volume":"301","author":"Witt","year":"2000","journal-title":"J.\u00a0Mol. Biol."},{"key":"10.1016\/j.ajhg.2018.04.010_bib10","doi-asserted-by":"crossref","first-page":"3500","DOI":"10.1016\/j.jmb.2017.05.027","article-title":"Proteasome Structure and Assembly","volume":"429","author":"Budenholzer","year":"2017","journal-title":"J.\u00a0Mol. Biol."},{"key":"10.1016\/j.ajhg.2018.04.010_bib11","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/j.ijbiomac.2006.03.015","article-title":"Possible tetramerisation of the proteasome maturation factor POMP\/proteassemblin\/hUmp1 and its subcellular localisation","volume":"38","author":"Hoefer","year":"2006","journal-title":"Int. J. Biol. Macromol."},{"key":"10.1016\/j.ajhg.2018.04.010_bib12","doi-asserted-by":"crossref","first-page":"10348","DOI":"10.1073\/pnas.190268597","article-title":"Identification and characterization of a mammalian protein interacting with 20S proteasome precursors","volume":"97","author":"Burri","year":"2000","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2018.04.010_bib13","doi-asserted-by":"crossref","first-page":"9241","DOI":"10.1073\/pnas.0501711102","article-title":"IFN-gamma-induced immune adaptation of the proteasome system is an accelerated and transient response","volume":"102","author":"Heink","year":"2005","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2018.04.010_bib14","doi-asserted-by":"crossref","first-page":"1170","DOI":"10.1038\/sj.embor.7401091","article-title":"The proteasome maturation protein POMP facilitates major steps of 20S proteasome formation at the endoplasmic reticulum","volume":"8","author":"Fricke","year":"2007","journal-title":"EMBO Rep."},{"key":"10.1016\/j.ajhg.2018.04.010_bib15","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1042\/BST0360879","article-title":"Remodelling of the ubiquitin-proteasome system in response to interferons","volume":"36","author":"Seifert","year":"2008","journal-title":"Biochem. Soc. Trans."},{"key":"10.1016\/j.ajhg.2018.04.010_bib16","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1016\/j.abb.2015.12.012","article-title":"Mammalian proteasome subtypes: Their diversity in structure and function","volume":"591","author":"Dahlmann","year":"2016","journal-title":"Arch. Biochem. Biophys."},{"key":"10.1016\/j.ajhg.2018.04.010_bib17","doi-asserted-by":"crossref","first-page":"3439","DOI":"10.1002\/eji.201040620","article-title":"Immunoproteasomes are essential for survival and expansion of T\u00a0cells in virus-infected mice","volume":"40","author":"Moebius","year":"2010","journal-title":"Eur. J. Immunol."},{"key":"10.1016\/j.ajhg.2018.04.010_bib18","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1002\/eji.201041040","article-title":"PA28 and the proteasome immunosubunits play a\u00a0central and independent role in the production of MHC\u00a0class I-binding peptides in\u00a0vivo","volume":"41","author":"de Graaf","year":"2011","journal-title":"Eur. J. Immunol."},{"key":"10.1016\/j.ajhg.2018.04.010_bib19","doi-asserted-by":"crossref","first-page":"1491","DOI":"10.1007\/s00018-011-0657-y","article-title":"The role of the proteasome in the generation of MHC class I ligands and immune responses","volume":"68","author":"Sijts","year":"2011","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.ajhg.2018.04.010_bib20","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1016\/j.cell.2010.07.036","article-title":"Immunoproteasomes preserve protein homeostasis upon interferon-induced oxidative stress","volume":"142","author":"Seifert","year":"2010","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2018.04.010_bib21","first-page":"1084","article-title":"An unknown autoinflammatory syndrome associated with short stature and dysmorphic features in a young boy","volume":"29","author":"M\u00e9garban\u00e9","year":"2002","journal-title":"J.\u00a0Rheumatol."},{"key":"10.1016\/j.ajhg.2018.04.010_bib22","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1016\/j.ajhg.2010.02.018","article-title":"A single-nucleotide deletion in the POMP 5\u2032\u00a0UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis","volume":"86","author":"Dahlqvist","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2018.04.010_bib23","doi-asserted-by":"crossref","first-page":"e29471","DOI":"10.1371\/journal.pone.0029471","article-title":"siRNA silencing of proteasome maturation protein (POMP) activates the unfolded protein response and constitutes a model for KLICK genodermatosis","volume":"7","author":"Dahlqvist","year":"2012","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2018.04.010_bib24","first-page":"22","article-title":"Generation of Epstein-Barr Virus (EBV)-immortalized B cell lines","volume":"Chapter 7","author":"Tosato","year":"2007","journal-title":"Curr. Protoc. Immunol."},{"key":"10.1016\/j.ajhg.2018.04.010_bib25","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1186\/gm461","article-title":"Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy","volume":"5","author":"Lupski","year":"2013","journal-title":"Genome Med."},{"key":"10.1016\/j.ajhg.2018.04.010_bib26","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1038\/nmeth.2019","article-title":"Fiji: an open-source platform for biological-image analysis","volume":"9","author":"Schindelin","year":"2012","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2018.04.010_bib27","doi-asserted-by":"crossref","first-page":"1637","DOI":"10.1136\/annrheumdis-2016-211001","article-title":"European evidence-based recommendations for diagnosis and treatment of paediatric antiphospholipid syndrome: the SHARE initiative","volume":"76","author":"Groot","year":"2017","journal-title":"Ann. Rheum. Dis."},{"key":"10.1016\/j.ajhg.2018.04.010_bib28","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1016\/S0968-0004(98)01208-0","article-title":"A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance","volume":"23","author":"Nagy","year":"1998","journal-title":"Trends Biochem. Sci."},{"key":"10.1016\/j.ajhg.2018.04.010_bib29","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1242\/jcs.181008","article-title":"Nonsense-mediated mRNA decay in humans at a glance","volume":"129","author":"Kurosaki","year":"2016","journal-title":"J.\u00a0Cell Sci."},{"key":"10.1016\/j.ajhg.2018.04.010_bib30","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/j.molcel.2010.09.012","article-title":"Proteasomal degradation is transcriptionally controlled by TCF11 via an ERAD-dependent feedback loop","volume":"40","author":"Steffen","year":"2010","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2018.04.010_bib31","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/B978-0-12-385114-7.00004-0","article-title":"Measuring ER stress and the unfolded protein response using mammalian tissue culture system","volume":"490","author":"Oslowski","year":"2011","journal-title":"Methods Enzymol."},{"key":"10.1016\/j.ajhg.2018.04.010_bib32","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.mrrev.2014.05.001","article-title":"Nonsense-mediated decay in genetic disease: friend or foe?","volume":"762","author":"Miller","year":"2014","journal-title":"Mutat. Res. Rev. Mutat. Res."},{"key":"10.1016\/j.ajhg.2018.04.010_bib33","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1086\/522090","article-title":"Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4","volume":"81","author":"Bondurand","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2018.04.010_bib34","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/ng1322","article-title":"Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations","volume":"36","author":"Inoue","year":"2004","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2018.04.010_bib35","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1016\/j.ajhg.2016.01.005","article-title":"DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome","volume":"98","author":"White","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2018.04.010_bib36","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1016\/j.ajhg.2014.04.006","article-title":"De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea","volume":"94","author":"Xia","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2018.04.010_bib37","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1111\/j.1399-0004.2008.01114.x","article-title":"Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?","volume":"75","author":"Ben-Shachar","year":"2009","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ajhg.2018.04.010_bib38","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/j.ajhg.2017.06.006","article-title":"REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis","volume":"101","author":"Bayram","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2018.04.010_bib39","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1016\/j.ajhg.2017.02.005","article-title":"De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome","volume":"100","author":"Jansen","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2018.04.010_bib40","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1016\/j.ajhg.2015.11.006","article-title":"De Novo GMNN Mutations\u00a0Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome","volume":"97","author":"Burrage","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2018.04.010_bib41","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.coi.2015.01.005","article-title":"Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind","volume":"32","author":"Boisson","year":"2015","journal-title":"Curr. Opin. Immunol."},{"key":"10.1016\/j.ajhg.2018.04.010_bib42","doi-asserted-by":"crossref","first-page":"10616","DOI":"10.1038\/s41598-017-10847-4","article-title":"Plasmid transfection influences the readout of nonsense-mediated mRNA decay reporter assays in human cells","volume":"7","author":"Gerbracht","year":"2017","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ajhg.2018.04.010_bib43","doi-asserted-by":"crossref","first-page":"3864","DOI":"10.1128\/MCB.00216-10","article-title":"PAC1 gene knockout reveals an essential role of chaperone-mediated 20S proteasome biogenesis and latent 20S proteasomes in cellular homeostasis","volume":"30","author":"Sasaki","year":"2010","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ajhg.2018.04.010_bib44","doi-asserted-by":"crossref","first-page":"6123","DOI":"10.1038\/ncomms7123","article-title":"Proteasome assembly from 15S precursors involves major conformational changes and recycling of the Pba1-Pba2 chaperone","volume":"6","author":"Kock","year":"2015","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2018.04.010_bib45","doi-asserted-by":"crossref","first-page":"3843","DOI":"10.1105\/tpc.107.055053","article-title":"Exploring the molecular etiology of dominant-negative mutations","volume":"19","author":"Veitia","year":"2007","journal-title":"Plant Cell"},{"key":"10.1016\/j.ajhg.2018.04.010_bib46","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1002\/path.2583","article-title":"Dominant negative factors in health and disease","volume":"218","author":"Veitia","year":"2009","journal-title":"J.\u00a0Pathol."},{"key":"10.1016\/j.ajhg.2018.04.010_bib47","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1089\/ars.2015.6539","article-title":"TCF11\/Nrf1-Mediated Induction of Proteasome Expression Prevents Cytotoxicity by Rotenone","volume":"25","author":"Sotzny","year":"2016","journal-title":"Antioxid. Redox Signal."},{"key":"10.1016\/j.ajhg.2018.04.010_bib48","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/j.molcel.2015.05.036","article-title":"MicroRNA-101 Suppresses Tumor Cell Proliferation by Acting as an Endogenous Proteasome Inhibitor via Targeting the Proteasome Assembly Factor POMP","volume":"59","author":"Zhang","year":"2015","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2018.04.010_bib49","doi-asserted-by":"crossref","first-page":"50873","DOI":"10.18632\/oncotarget.15141","article-title":"Inhibition and deficiency of the immunoproteasome subunit LMP7 suppress the development and progression of colorectal carcinoma in mice","volume":"8","author":"Koerner","year":"2017","journal-title":"Oncotarget"},{"key":"10.1016\/j.ajhg.2018.04.010_bib50","doi-asserted-by":"crossref","first-page":"4115","DOI":"10.4049\/jimmunol.0903003","article-title":"Unexpected role for the immunoproteasome subunit LMP2 in antiviral humoral and innate immune responses","volume":"184","author":"Hensley","year":"2010","journal-title":"J.\u00a0Immunol."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929718301423?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929718301423?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T10:17:58Z","timestamp":1762078678000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929718301423"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6]]},"references-count":50,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2018,6]]}},"alternative-id":["S0002929718301423"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2018.04.010","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2018,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome","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.2018.04.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}