{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T16:58:57Z","timestamp":1787504337855,"version":"build-2736575974"},"reference-count":24,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,6,3]],"date-time":"2021-06-03T00:00:00Z","timestamp":1622678400000},"content-version":"vor","delay-in-days":184,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100004052","name":"King Abdullah University of Science and Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004052","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":[[2020,12]]},"DOI":"10.1016\/j.ajhg.2020.11.007","type":"journal-article","created":{"date-parts":[[2020,11,25]],"date-time":"2020-11-25T10:34:56Z","timestamp":1606300496000},"page":"1178-1185","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":31,"title":["Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans"],"prefix":"10.1016","volume":"107","author":[{"given":"Fatema","family":"Alzahrani","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Kuwahara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongkang","family":"Long","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed","family":"Al-Owain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed","family":"Tohary","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moeenaldeen","family":"AlSayed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed","family":"Mahnashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lana","family":"Fathi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha","family":"Alnemer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed H.","family":"Al-Hamed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabrielle","family":"Lemire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kym M.","family":"Boycott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mais","family":"Hashem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenkai","family":"Han","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Almundher","family":"Al-Maawali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feisal","family":"Al Mahrizi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khalid","family":"Al-Thihli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Gao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fowzan S.","family":"Alkuraya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2020.11.007_bib1","doi-asserted-by":"crossref","first-page":"e1548","DOI":"10.1002\/wrna.1548","article-title":"Nonsense-mediated mRNA decay: The challenge of telling right from wrong in a complex transcriptome","volume":"10","author":"Kishor","year":"2019","journal-title":"Wiley Interdiscip. Rev. RNA"},{"key":"10.1016\/j.ajhg.2020.11.007_bib2","doi-asserted-by":"crossref","first-page":"a032862","DOI":"10.1101\/cshperspect.a032862","article-title":"Nonsense-mediated mRNA decay begins where translation ends","volume":"11","author":"Karousis","year":"2019","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"10.1016\/j.ajhg.2020.11.007_bib3","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/j.tig.2011.11.001","article-title":"mRNP quality control goes regulatory","volume":"28","author":"M\u00fchlemann","year":"2012","journal-title":"Trends Genet."},{"key":"10.1016\/j.ajhg.2020.11.007_bib4","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1016\/j.semcdb.2017.08.053","article-title":"Beyond quality control: The role of nonsense-mediated mRNA decay (NMD) in regulating gene expression","volume":"75","author":"Nasif","year":"2018","journal-title":"Semin. Cell Dev. Biol."},{"key":"10.1016\/j.ajhg.2020.11.007_bib5","doi-asserted-by":"crossref","first-page":"2108","DOI":"10.1261\/rna.030247.111","article-title":"Autoregulation of the nonsense-mediated mRNA decay pathway in human cells","volume":"17","author":"Yepiskoposyan","year":"2011","journal-title":"RNA"},{"key":"10.1016\/j.ajhg.2020.11.007_bib6","doi-asserted-by":"crossref","first-page":"15799","DOI":"10.1073\/pnas.1917812117","article-title":"Pervasive changes of mRNA splicing in upf1-deficient zebrafish identify rpl10a as a regulator of T\u00a0cell development","volume":"117","author":"Lawir","year":"2020","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2020.11.007_bib7","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1093\/hmg\/10.2.99","article-title":"Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability","volume":"10","author":"Medghalchi","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2020.11.007_bib8","doi-asserted-by":"crossref","first-page":"12186","DOI":"10.1073\/pnas.1007336107","article-title":"Smg1 is required for embryogenesis and regulates diverse genes via alternative splicing coupled to nonsense-mediated mRNA decay","volume":"107","author":"McIlwain","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2020.11.007_bib9","doi-asserted-by":"crossref","first-page":"1630","DOI":"10.15252\/embj.201489947","article-title":"Smg6\/Est1 licenses embryonic stem cell differentiation via nonsense-mediated mRNA decay","volume":"34","author":"Li","year":"2015","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2020.11.007_bib10","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1016\/j.ajhg.2016.02.010","article-title":"Mutations in SMG9, encoding an essential component of nonsense-mediated decay machinery, cause a multiple congenital anomaly syndrome in humans and mice","volume":"98","author":"Shaheen","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2020.11.007_bib11","doi-asserted-by":"crossref","first-page":"1127","DOI":"10.1038\/ng2100","article-title":"Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation","volume":"39","author":"Tarpey","year":"2007","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2020.11.007_bib12","doi-asserted-by":"crossref","first-page":"1182","DOI":"10.1016\/j.ajhg.2019.04.011","article-title":"Lessons learned from large-scale, first-tier clinical exome sequencing in a highly consanguineous population","volume":"104","author":"Monies","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2020.11.007_bib13","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1038\/s41422-019-0255-3","article-title":"Cryo-EM structure of SMG1-SMG8-SMG9 complex","volume":"29","author":"Zhu","year":"2019","journal-title":"Cell Res."},{"key":"10.1016\/j.ajhg.2020.11.007_bib14","doi-asserted-by":"crossref","first-page":"1089","DOI":"10.1038\/s41594-019-0342-7","article-title":"InsP6 binding to PIKK kinases revealed by the cryo-EM structure of an SMG1-SMG8-SMG9 complex","volume":"26","author":"Gat","year":"2019","journal-title":"Nat. Struct. Mol. Biol."},{"key":"10.1016\/j.ajhg.2020.11.007_bib15","doi-asserted-by":"crossref","first-page":"1829","DOI":"10.1002\/ajmg.a.61616","article-title":"SMG9-deficiency syndrome caused by a homozygous missense variant: Expanding the genotypic and phenotypic spectrum of this developmental disorder","volume":"182","author":"Lemire","year":"2020","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2020.11.007_bib16","doi-asserted-by":"crossref","first-page":"7600","DOI":"10.1093\/nar\/gkv668","article-title":"A network of SMG-8, SMG-9 and SMG-1 C-terminal insertion domain regulates UPF1 substrate recruitment and phosphorylation","volume":"43","author":"Deniaud","year":"2015","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2020.11.007_bib17","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1101\/gad.1767209","article-title":"SMG-8 and SMG-9, two novel subunits of the SMG-1 complex, regulate remodeling of the mRNA surveillance complex during nonsense-mediated mRNA decay","volume":"23","author":"Yamashita","year":"2009","journal-title":"Genes Dev."},{"key":"10.1016\/j.ajhg.2020.11.007_bib18","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1101\/gad.606911","article-title":"The nonsense-mediated mRNA decay SMG-1 kinase is regulated by large-scale conformational changes controlled by SMG-8","volume":"25","author":"Arias-Palomo","year":"2011","journal-title":"Genes Dev."},{"key":"10.1016\/j.ajhg.2020.11.007_bib19","doi-asserted-by":"crossref","first-page":"16692","DOI":"10.1038\/s41598-017-16942-w","article-title":"Conservation of nonsense-mediated mRNA decay complex components throughout eukaryotic evolution","volume":"7","author":"Causier","year":"2017","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ajhg.2020.11.007_bib20","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1186\/s13059-020-02053-9","article-title":"Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics","volume":"21","author":"Maddirevula","year":"2020","journal-title":"Genome Biol."},{"key":"10.1016\/j.ajhg.2020.11.007_bib21","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1038\/nbt.3519","article-title":"Near-optimal probabilistic RNA-seq quantification","volume":"34","author":"Bray","year":"2016","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.ajhg.2020.11.007_bib22","doi-asserted-by":"crossref","first-page":"1900","DOI":"10.1101\/gad.245506.114","article-title":"A post-translational regulatory switch on UPF1 controls targeted mRNA degradation","volume":"28","author":"Kurosaki","year":"2014","journal-title":"Genes Dev."},{"key":"10.1016\/j.ajhg.2020.11.007_bib23","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1016\/j.stemcr.2016.05.008","article-title":"Nonsense-mediated RNA decay influences human embryonic stem cell fate","volume":"6","author":"Lou","year":"2016","journal-title":"Stem Cell Reports"},{"key":"10.1016\/j.ajhg.2020.11.007_bib24","doi-asserted-by":"crossref","first-page":"e49490","DOI":"10.1371\/journal.pone.0049490","article-title":"Genetic characterization of smg-8 mutants reveals no role in C. elegans nonsense mediated decay","volume":"7","author":"Rosains","year":"2012","journal-title":"PLoS ONE"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929720304043?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929720304043?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T07:20:14Z","timestamp":1757575214000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929720304043"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12]]},"references-count":24,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["S0002929720304043"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2020.11.007","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2020,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans","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.2020.11.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}