{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T14:56:53Z","timestamp":1790434613994,"version":"4.1.0"},"reference-count":37,"publisher":"National Academy of Sciences","issue":"34","license":[{"start":{"date-parts":[[2021,8,20]],"date-time":"2021-08-20T00:00:00Z","timestamp":1629417600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000925","name":"Department of Health | National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP1108800"],"award-info":[{"award-number":["APP1108800"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"Department of Health | National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP1081858"],"award-info":[{"award-number":["APP1081858"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"Department of Health | National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP1113904"],"award-info":[{"award-number":["APP1113904"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2021,8,24]]},"abstract":"<jats:title>Significance<\/jats:title>\n                  <jats:p>\n                    The experiments here advance understanding of the function of the SAMD9L gene and protein in innate immune mechanisms in resisting virus infection and in the pathogenesis of inflammatory, hematological, and neurological disorders. The clinical syndrome defined in two children with de novo truncating\n                    <jats:italic>SAMD9L<\/jats:italic>\n                    mutations expands the phenotypes in this newly recognized autoinflammatory disorder. Analysis of cells expressing normal or mutant SAMD9L reveals the protein represses protein translation, with the truncating mutations greatly exaggerating this activity. The experiments find equally potent gain of function caused by the truncating mutations or a recurrent missense mutation associated with clinically milder ataxia and pancytopenia syndromes, demonstrating that diverse clinical manifestations can arise from mutations that appear cell-biologically equivalent.\n                  <\/jats:p>","DOI":"10.1073\/pnas.2110190118","type":"journal-article","created":{"date-parts":[[2021,8,20]],"date-time":"2021-08-20T16:20:33Z","timestamp":1629476433000},"update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":36,"title":["SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression"],"prefix":"10.1073","volume":"118","author":[{"given":"Amanda J.","family":"Russell","sequence":"first","affiliation":[{"name":"Immunogenomics Laboratory, Garvan Institute of Medical Research, Darlinghurst, NSW 2010 Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul E.","family":"Gray","sequence":"additional","affiliation":[{"name":"Sydney Children\u2019s Hospital, Randwick, NSW 2031, Australia;"},{"name":"School of Women\u2019s and Children\u2019s Health, University of New South Wales, Sydney, NSW 2010, Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John B.","family":"Ziegler","sequence":"additional","affiliation":[{"name":"Sydney Children\u2019s Hospital, Randwick, NSW 2031, Australia;"},{"name":"School of Women\u2019s and Children\u2019s Health, University of New South Wales, Sydney, NSW 2010, Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yae Jean","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Korea;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandy","family":"Smith","sequence":"additional","affiliation":[{"name":"SydPath, St Vincent\u2019s Hospital, Darlinghurst, NSW 2010, Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William A.","family":"Sewell","sequence":"additional","affiliation":[{"name":"Immunogenomics Laboratory, Garvan Institute of Medical Research, Darlinghurst, NSW 2010 Australia;"},{"name":"Faculty of Medicine, University of New South Wales, Sydney, NSW 2052, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5296-6155","authenticated-orcid":false,"given":"Christopher C.","family":"Goodnow","sequence":"additional","affiliation":[{"name":"Immunogenomics Laboratory, Garvan Institute of Medical Research, Darlinghurst, NSW 2010 Australia;"},{"name":"Faculty of Medicine, University of New South Wales, Sydney, NSW 2052, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2021,8,20]]},"reference":[{"key":"e_1_3_3_1_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2148-13-121"},{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.ppat.1006884"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.24965"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1128\/mBio.01122-15"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1128\/JVI.02262-14"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1128\/JVI.01329-18"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1128\/mBio.00385-13"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1128\/JVI.02243-10"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1021\/pr400011k"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.7150\/ijbs.9143"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13062-017-0185-2"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.str.2009.01.001"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cels.2015.12.004"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/pro.703"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccr.2013.08.011"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-10-743302"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI129301"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41576-020-0255-7"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5701203"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1086\/508069"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2009.04.004"},{"key":"e_1_3_3_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.04.009"},{"key":"e_1_3_3_23_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3569"},{"key":"e_1_3_3_24_2","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2017.180778"},{"key":"e_1_3_3_25_2","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000183"},{"key":"e_1_3_3_26_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2011-1854"},{"key":"e_1_3_3_27_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature03465"},{"key":"e_1_3_3_28_2","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.17755"},{"key":"e_1_3_3_29_2","doi-asserted-by":"publisher","DOI":"10.1111\/jns.12409"},{"key":"e_1_3_3_30_2","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000580"},{"key":"e_1_3_3_31_2","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.1314"},{"key":"e_1_3_3_32_2","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20201195"},{"key":"e_1_3_3_33_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt473"},{"key":"e_1_3_3_34_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-019-1319-1"},{"key":"e_1_3_3_35_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.01.019"},{"key":"e_1_3_3_36_2","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2018.207316"},{"key":"e_1_3_3_37_2","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.121086"}],"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.pnas.org\/syndication\/doi\/10.1073\/pnas.2110190118","content-type":"unspecified","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.2110190118","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T08:25:34Z","timestamp":1649838334000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.2110190118"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,20]]},"references-count":37,"journal-issue":{"issue":"34","published-print":{"date-parts":[[2021,8,24]]}},"alternative-id":["10.1073\/pnas.2110190118"],"URL":"https:\/\/doi.org\/10.1073\/pnas.2110190118","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,8,20]]},"assertion":[{"value":"2021-08-20","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2110190118"}}