{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T09:51:17Z","timestamp":1787824277706,"version":"build-2784847793"},"update-to":[{"DOI":"10.1371\/journal.pgen.1011517","type":"new_version","label":"New version","source":"publisher","updated":{"date-parts":[[2024,12,30]],"date-time":"2024-12-30T00:00:00Z","timestamp":1735516800000}}],"reference-count":53,"publisher":"Public Library of Science (PLoS)","issue":"12","license":[{"start":{"date-parts":[[2024,12,16]],"date-time":"2024-12-16T00:00:00Z","timestamp":1734307200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["no. ANR-18CE12-0007; no. ANR-22CE12-0007);"],"award-info":[{"award-number":["no. ANR-18CE12-0007; no. ANR-22CE12-0007);"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007353","name":"Fondation J\u00e9r\u00f4me Lejeune","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007353","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Fondation pour la recherche sur le Cerveau"},{"DOI":"10.13039\/100012778","name":"Ministry of Advanced Education and Skills Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012778","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche M\u00e9dicale","doi-asserted-by":"publisher","award":["FDT202304016375"],"award-info":[{"award-number":["FDT202304016375"]}],"id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Poste Accueil Inserm 2023"},{"DOI":"10.13039\/100020595","name":"National Science and Technology Council","doi-asserted-by":"publisher","award":["NSTC 112-2326-B001-010"],"award-info":[{"award-number":["NSTC 112-2326-B001-010"]}],"id":[{"id":"10.13039\/100020595","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001869","name":"Academia Sinica","doi-asserted-by":"publisher","award":["AS-IA-109-L04"],"award-info":[{"award-number":["AS-IA-109-L04"]}],"id":[{"id":"10.13039\/501100001869","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Swiss National Foundation","award":["SNSF 310030_205087"],"award-info":[{"award-number":["SNSF 310030_205087"]}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-17-CE16-0003-01"],"award-info":[{"award-number":["ANR-17-CE16-0003-01"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.plosgenetics.org"],"crossmark-restriction":false},"short-container-title":["PLoS Genet"],"abstract":"<jats:p>\n                    Taybi-Linder syndrome (TALS) is a rare autosomal recessive disorder characterized by severe microcephaly with abnormal gyral pattern, severe growth retardation and bone abnormalities. It is caused by pathogenic variants in the\n                    <jats:italic>RNU4ATAC<\/jats:italic>\n                    gene. Its transcript, the small nuclear RNA U4atac, is involved in the excision of ~850 minor introns. Here, we report a patient presenting with TALS features but no pathogenic variants were found in\n                    <jats:italic>RNU4ATAC<\/jats:italic>\n                    , instead the homozygous\n                    <jats:italic>RTTN<\/jats:italic>\n                    c.2953A&gt;G variant was detected by whole-exome sequencing. After deciphering the impact of the variant on the RTTN protein function at centrosome in engineered\n                    <jats:italic>RTTN<\/jats:italic>\n                    -depleted RPE1 cells and patient fibroblasts, we analysed neural stem cells (NSC) derived from CRISPR\/Cas9-edited induced pluripotent stem cells and revealed major cell cycle and mitotic abnormalities, leading to aneuploidy, cell cycle arrest and cell death. In cortical organoids, we discovered an additional function of RTTN in the self-organisation of NSC into neural rosettes, by observing delayed apico-basal polarization of NSC. Altogether, these defects contributed to a marked delay of rosette formation in\n                    <jats:italic>RTTN<\/jats:italic>\n                    -mutated organoids, thus impeding their overall growth and shedding light on mechanisms leading to microcephaly.\n                  <\/jats:p>","DOI":"10.1371\/journal.pgen.1011517","type":"journal-article","created":{"date-parts":[[2024,12,16]],"date-time":"2024-12-16T13:40:03Z","timestamp":1734356403000},"page":"e1011517","update-policy":"https:\/\/doi.org\/10.1371\/journal.pgen.corrections_policy","source":"Crossref","is-referenced-by-count":6,"title":["A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids"],"prefix":"10.1371","volume":"20","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9616-4867","authenticated-orcid":true,"given":"Justine","family":"Guguin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7767-7106","authenticated-orcid":true,"given":"Ting-Yu","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0763-5661","authenticated-orcid":true,"given":"Silvestre","family":"Cuinat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2812-5927","authenticated-orcid":true,"given":"Alicia","family":"Besson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elo\u00efse","family":"Bertiaux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0767-2822","authenticated-orcid":true,"given":"Lucile","family":"Boutaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nolan","family":"Ardito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miren","family":"Imaz Murguiondo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Cabet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5092-2343","authenticated-orcid":true,"given":"Virginie","family":"Hamel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1210-8444","authenticated-orcid":true,"given":"Bertrand","family":"Pain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8976-5832","authenticated-orcid":true,"given":"Patrick","family":"Edery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Putoux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3660-0695","authenticated-orcid":true,"given":"Tang K.","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2135-0160","authenticated-orcid":true,"given":"Sylvie","family":"Mazoyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2666-4457","authenticated-orcid":true,"given":"Marion","family":"Delous","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2024,12,16]]},"reference":[{"issue":"7","key":"pgen.1011517.ref001","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0235655","article-title":"Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene","volume":"15","author":"C Benoit-Pilven","year":"2020","journal-title":"PLoS One"},{"issue":"2","key":"pgen.1011517.ref002","doi-asserted-by":"crossref","first-page":"712","DOI":"10.1093\/nar\/gkac1182","article-title":"Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex","volume":"51","author":"F Almentina Ramos Shidi","year":"2023","journal-title":"Nucleic Acids Res"},{"issue":"2","key":"pgen.1011517.ref003","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1016\/j.braindev.2020.09.007","article-title":"Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome","volume":"43","author":"H Hagiwara","year":"2021","journal-title":"Brain Dev"},{"issue":"11","key":"pgen.1011517.ref004","doi-asserted-by":"crossref","first-page":"3502","DOI":"10.1002\/ajmg.a.62457","article-title":"Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature","volume":"185","author":"HJ McMillan","year":"2021","journal-title":"Am J Med Genet A"},{"issue":"5","key":"pgen.1011517.ref005","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1007\/s10875-023-01447-1","article-title":"Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I\/III","volume":"43","author":"N Sirohi","year":"2023","journal-title":"J Clin Immunol"},{"issue":"6","key":"pgen.1011517.ref006","doi-asserted-by":"crossref","first-page":"3524","DOI":"10.1093\/nar\/gkab118","article-title":"Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns","volume":"49","author":"AM Olthof","year":"2021","journal-title":"Nucleic Acids Res"},{"issue":"2","key":"pgen.1011517.ref007","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1148\/89.2.275","article-title":"Congenital Familial Dwarfism with Cephaloskeletal Dysplasia.","volume":"89","author":"H Taybi","year":"1967","journal-title":"Radiology."},{"issue":"6","key":"pgen.1011517.ref008","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1111\/cge.12781","article-title":"Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome","volume":"90","author":"A Putoux","year":"2016","journal-title":"Clin Genet"},{"key":"pgen.1011517.ref009","article-title":"RNU4atac-opathy.","author":"A Duker","year":"2023","journal-title":"GeneReviews"},{"issue":"6026","key":"pgen.1011517.ref010","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1126\/science.1202205","article-title":"Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA","volume":"332","author":"P Edery","year":"2011","journal-title":"Science"},{"issue":"6026","key":"pgen.1011517.ref011","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1126\/science.1200587","article-title":"Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I","volume":"332","author":"H He","year":"2011","journal-title":"Science"},{"issue":"20","key":"pgen.1011517.ref012","doi-asserted-by":"crossref","first-page":"10884","DOI":"10.1093\/nar\/gkad797","article-title":"Where the minor things are: a pan-eukaryotic survey suggests neutral processes may explain much of minor intron evolution","volume":"51","author":"GE Larue","year":"2023","journal-title":"Nucleic Acids Res"},{"issue":"9","key":"pgen.1011517.ref013","doi-asserted-by":"crossref","first-page":"1130","DOI":"10.1261\/rna.071423.119","article-title":"New insights into minor splicing\u2014a transcriptomic analysis of cells derived from TALS patients","volume":"25","author":"A Cologne","year":"2019","journal-title":"RNA"},{"issue":"1","key":"pgen.1011517.ref014","doi-asserted-by":"crossref","first-page":"8718","DOI":"10.1038\/ncomms9718","article-title":"Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.","volume":"6","author":"D Merico","year":"2015","journal-title":"Nat Commun"},{"issue":"1","key":"pgen.1011517.ref015","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1038\/s41525-017-0024-5","article-title":"A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome.","volume":"2","author":"Y Dinur Schejter","year":"2017","journal-title":"NPJ Genom Med"},{"issue":"2","key":"pgen.1011517.ref016","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1016\/j.jaci.2017.11.061","article-title":"Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome","volume":"142","author":"J Heremans","year":"2018","journal-title":"J Allergy Clin Immunol"},{"issue":"1","key":"pgen.1011517.ref017","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1186\/s12864-019-6046-x","article-title":"Minor intron splicing revisited: Identification of new minor intron-containing genes and tissue-dependent retention and alternative splicing of minor introns","volume":"20","author":"AM Olthof","year":"2019","journal-title":"BMC Genomics"},{"issue":"3","key":"pgen.1011517.ref018","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1016\/j.ajhg.2012.07.008","article-title":"RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral Cortex","volume":"91","author":"S Kheradmand Kia","year":"2012","journal-title":"Am J Hum Genet"},{"issue":"6","key":"pgen.1011517.ref019","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1016\/j.ajhg.2015.10.012","article-title":"RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans","volume":"97","author":"H Shamseldin","year":"2015","journal-title":"Am J Hum Genet"},{"issue":"5","key":"pgen.1011517.ref020","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1111\/cge.12771","article-title":"Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis","volume":"90","author":"A Grandone","year":"2016","journal-title":"Clin Genet"},{"issue":"1","key":"pgen.1011517.ref021","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/s12920-016-0167-8","article-title":"Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly","volume":"9","author":"P Rump","year":"2016","journal-title":"BMC Med Genomics"},{"issue":"11","key":"pgen.1011517.ref022","doi-asserted-by":"crossref","first-page":"1207","DOI":"10.1038\/gim.2017.33","article-title":"Prenatal Exome Sequencing in Anomalous Fetuses: New Opportunities and Challenges","volume":"19","author":"NL Vora","year":"2017","journal-title":"Genet Med"},{"issue":"3","key":"pgen.1011517.ref023","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1038\/s41390-018-0083-z","article-title":"Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures","volume":"84","author":"JA Wambach","year":"2018","journal-title":"Pediatr Res"},{"issue":"12","key":"pgen.1011517.ref024","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1016\/j.ejmg.2018.08.001","article-title":"Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction","volume":"61","author":"M Cavallin","year":"2018","journal-title":"Eur J Med Genet"},{"issue":"7","key":"pgen.1011517.ref025","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1002\/bdr2.1204","article-title":"A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern","volume":"110","author":"S Chartier","year":"2018","journal-title":"Birth Defects Res"},{"issue":"12","key":"pgen.1011517.ref026","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1016\/j.ejmg.2018.06.001","article-title":"Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations","volume":"61","author":"K Stouffs","year":"2018","journal-title":"Eur J Med Genet"},{"issue":"7","key":"pgen.1011517.ref027","first-page":"899","article-title":"Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42","volume":"40","author":"M Zakaria","year":"2019","journal-title":"Hum Mutat"},{"issue":"5","key":"pgen.1011517.ref028","doi-asserted-by":"crossref","first-page":"2824","DOI":"10.1016\/j.sjbs.2021.02.014","article-title":"Exome sequencing reveled a compound heterozygous mutations in RTTN gene causing developmental delay and primary microcephaly","volume":"28","author":"M Imran Naseer","year":"2021","journal-title":"Saudi J Biol Sci"},{"issue":"4","key":"pgen.1011517.ref029","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1093\/brain\/awz045","article-title":"Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics","volume":"142","author":"V. Vandervore L","year":"2019","journal-title":"Brain"},{"key":"pgen.1011517.ref030","doi-asserted-by":"crossref","first-page":"1326552","DOI":"10.3389\/fped.2023.1326552","article-title":"Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia.","volume":"11","author":"F Romano","year":"2023","journal-title":"Front Pediatr"},{"issue":"17","key":"pgen.1011517.ref031","doi-asserted-by":"crossref","first-page":"1291","DOI":"10.1161\/CIRCULATIONAHA.122.060985","article-title":"Impaired Reorganization of Centrosome Structure Underlies Human Infantile Dilated Cardiomyopathy","volume":"147","author":"YW Chun","year":"2023","journal-title":"Circulation"},{"issue":"3","key":"pgen.1011517.ref032","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1038\/s41436-018-0140-3","article-title":"Genomic and phenotypic delineation of congenital microcephaly","volume":"21","author":"R Shaheen","year":"2019","journal-title":"Genet Med"},{"issue":"6","key":"pgen.1011517.ref033","first-page":"1027","article-title":"Microcephaly, Short Stature, Intellectual Disability, Speech Absence and Cataract Are Associated with Novel Bi-Allelic Missense Variant in RTTN Gene: A Seckel Syndrome Case Report.","volume":"10","author":"BU Mudassir","year":"2023","journal-title":"Children (Basel)"},{"issue":"1","key":"pgen.1011517.ref034","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/S0925-4773(02)00003-5","article-title":"Rotatin is a novel gene required for axial rotation and left-right specification in mouse embryos","volume":"113","author":"AM Faisst","year":"2002","journal-title":"Mech Dev"},{"issue":"1","key":"pgen.1011517.ref035","first-page":"1","article-title":"Human microcephaly protein RTTN interacts with STIL and is required to build full-length centrioles.","volume":"8","author":"HY Chen","year":"2017","journal-title":"Nat Commun."},{"issue":"6","key":"pgen.1011517.ref036","doi-asserted-by":"crossref","first-page":"1441","DOI":"10.3390\/cells10061441","article-title":"Human Microcephaly Protein RTTN Is Required for Proper Mitotic Progression and Correct Spindle Position.","volume":"10","author":"EJ Chou","year":"2021","journal-title":"Cells."},{"issue":"23\u201324","key":"pgen.1011517.ref037","doi-asserted-by":"crossref","first-page":"1551","DOI":"10.1101\/gad.348866.121","article-title":"Time is of the essence: the molecular mechanisms of primary microcephaly","volume":"35","author":"TP Phan","year":"2021","journal-title":"Genes Dev"},{"issue":"9","key":"pgen.1011517.ref038","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1038\/s41419-024-07042-5","article-title":"Cilia defects upon loss of WDR4 are linked to proteasomal hyperactivity and ubiquitin shortage","volume":"15","author":"MD Burkhalter","year":"2024","journal-title":"Cell Death Dis"},{"issue":"1","key":"pgen.1011517.ref039","doi-asserted-by":"crossref","first-page":"2612","DOI":"10.1038\/s41467-019-10497-2","article-title":"Modeling microcephaly with cerebral organoids reveals a WDR62\u2013CEP170\u2013KIF2A pathway promoting cilium disassembly in neural progenitors.","volume":"10","author":"W Zhang","year":"2019","journal-title":"Nat Commun"},{"key":"pgen.1011517.ref040","doi-asserted-by":"crossref","first-page":"12551","DOI":"10.1038\/ncomms12551","article-title":"Severe NDE1-mediated microcephaly results from neural progenitor cell cycle arrests at multiple specific stages","volume":"7","author":"DJ Doobin","year":"2016","journal-title":"Nat Commun"},{"issue":"1","key":"pgen.1011517.ref041","doi-asserted-by":"crossref","DOI":"10.1038\/s41467-020-19658-0","article-title":"RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis.","volume":"11","author":"M Farooq","year":"2020","journal-title":"Nat Commun."},{"issue":"8","key":"pgen.1011517.ref042","doi-asserted-by":"crossref","first-page":"803","DOI":"10.15252\/embj.201593679","article-title":"CPAP promotes timely cilium disassembly to maintain neural progenitor pool","volume":"35","author":"E Gabriel","year":"2016","journal-title":"EMBO J"},{"key":"pgen.1011517.ref043","doi-asserted-by":"crossref","first-page":"1187134","DOI":"10.3389\/fphys.2023.1187134","article-title":"Compartmentalised cAMP signalling in the primary cilium.","volume":"14","author":"E Paolocci","year":"2023","journal-title":"Front Physiol."},{"issue":"27","key":"pgen.1011517.ref044","doi-asserted-by":"crossref","first-page":"10438","DOI":"10.1073\/pnas.0604066103","article-title":"Aspm specifically maintains symmetric proliferative divisions of neuroepithelial cells","volume":"103","author":"JL Fish","year":"2006","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"11","key":"pgen.1011517.ref045","doi-asserted-by":"crossref","first-page":"1907","DOI":"10.1242\/dev.040410","article-title":"Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors","volume":"137","author":"SB Lizarraga","year":"2010","journal-title":"Development"},{"issue":"12","key":"pgen.1011517.ref046","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1016\/j.tcb.2013.07.001","article-title":"Concealing cellular defects in pluripotent stem cells","volume":"23","author":"W Zhang","year":"2013","journal-title":"Trends Cell Biol"},{"issue":"3","key":"pgen.1011517.ref047","article-title":"Five steps to form neural rosettes: structure and function","volume":"131","author":"H H\u0159\u00edbkov\u00e1","year":"2018","journal-title":"J Cell Sci"},{"key":"pgen.1011517.ref048","doi-asserted-by":"crossref","first-page":"101563","DOI":"10.1016\/j.scr.2019.101563","article-title":"Differentiation of neural rosettes from human pluripotent stem cells in vitro is sequentially regulated on a molecular level and accomplished by the mechanism reminiscent of secondary neurulation","volume":"40","author":"V Fedorova","year":"2019","journal-title":"Stem Cell Res"},{"issue":"2","key":"pgen.1011517.ref049","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1016\/j.scr.2016.08.012","article-title":"Stage-specific roles of FGF2 signaling in human neural development","volume":"17","author":"M Grabiec","year":"2016","journal-title":"Stem Cell Res"},{"key":"pgen.1011517.ref050","first-page":"588941","volume":"8","author":"RF Townshend","year":"2020","journal-title":"Effect of Cell Spreading on Rosette Formation by Human Pluripotent Stem Cell-Derived Neural Progenitor Cells. Front Cell Dev Biol"},{"issue":"9","key":"pgen.1011517.ref051","doi-asserted-by":"crossref","first-page":"e2102569120","DOI":"10.1073\/pnas.2102569120","article-title":"Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish","volume":"120","author":"D Khatri","year":"2023","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"7","key":"pgen.1011517.ref052","doi-asserted-by":"crossref","first-page":"888","DOI":"10.1038\/nn.4307","article-title":"Hedgehog signaling promotes basal progenitor expansion and the growth and folding of the neocortex","volume":"19","author":"L Wang","year":"2016","journal-title":"Nat Neurosci"},{"issue":"181","key":"pgen.1011517.ref053","doi-asserted-by":"crossref","DOI":"10.3791\/62667","article-title":"2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical Development.","author":"L Boutaud","year":"2022","journal-title":"J Vis Exp"}],"updated-by":[{"DOI":"10.1371\/journal.pgen.1011517","type":"new_version","label":"New version","source":"publisher","updated":{"date-parts":[[2024,12,30]],"date-time":"2024-12-30T00:00:00Z","timestamp":1735516800000}}],"container-title":["PLOS Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pgen.1011517","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,30]],"date-time":"2024-12-30T13:57:24Z","timestamp":1735567044000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pgen.1011517"}},"subtitle":[],"editor":[{"given":"Gregory J.","family":"Pazour","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2024,12,16]]},"references-count":53,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2024,12,16]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pgen.1011517","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2024.04.03.24303866","asserted-by":"object"}]},"ISSN":["1553-7404"],"issn-type":[{"value":"1553-7404","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,16]]}}}