{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T19:11:10Z","timestamp":1789067470466,"version":"build-2803163510"},"reference-count":62,"publisher":"The Company of Biologists","issue":"3","license":[{"start":{"date-parts":[[2025,3,24]],"date-time":"2025-03-24T00:00:00Z","timestamp":1742774400000},"content-version":"vor","delay-in-days":23,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"National Institutes of Health office of the Director","award":["R24-OD030008"],"award-info":[{"award-number":["R24-OD030008"]}]},{"name":"National Institutes of Health office of the Director","award":["P40-OD010997"],"award-info":[{"award-number":["P40-OD010997"]}]},{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"crossref","award":["R01-DE025468"],"award-info":[{"award-number":["R01-DE025468"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"crossref","award":["F32-DE030699"],"award-info":[{"award-number":["F32-DE030699"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"crossref","award":["K99-DE034476"],"award-info":[{"award-number":["K99-DE034476"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100006732","name":"New York University","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100006732","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,3,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:p>Nager and Rodriguez syndromes are rare craniofacial and limb disorders characterized by midface retrusion, micrognathia, absent thumbs and radial hypoplasia. These disorders result from haploinsufficiency of SF3B4 (splicing factor 3b, subunit 4), a component of the pre-mRNA spliceosomal machinery. Although the spliceosome is present and functions in all cells of the body, most spliceosomopathies \u2013 including Nager and Rodriguez syndromes \u2013 are cell- or tissue-specific in their pathology. To understand the pathomechanism underlying these conditions, we generated a Xenopus tropicalis sf3b4 mutant line using CRISPR\/Cas9 gene-editing technology. Homozygous deletion of sf3b4 is detrimental to the development of cranial neural crest (NC)-derived cartilage progenitors. Temporal RNA-sequencing analyses of mutant embryos identified an increase in exon-skipping events, followed by important transcriptional changes associated with an enrichment for terms consistent with defects in NC cell migration and survival. We propose that disruption of these processes may underly the pathogenesis of Nager and Rodriguez syndromes.<\/jats:p>","DOI":"10.1242\/dmm.052169","type":"journal-article","created":{"date-parts":[[2025,4,9]],"date-time":"2025-04-09T09:21:51Z","timestamp":1744190511000},"source":"Crossref","is-referenced-by-count":6,"title":["Deletion of <i>sf3b4<\/i> causes splicing defects and gene dysregulation that disrupt craniofacial development and survival"],"prefix":"10.1242","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8754-0370","authenticated-orcid":false,"given":"Casey","family":"Griffin","sequence":"first","affiliation":[{"name":"College of Dentistry, New York University 1 Department of Molecular Pathobiology , , New York , NY 10010,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelsey","family":"Coppenrath","sequence":"additional","affiliation":[{"name":"Eugene Bell Center for Regenerative Biology and Tissue Engineering and National Xenopus Resource 2 , Marine Biological Laboratory, Woods Hole , MA 02543,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doha","family":"Khan","sequence":"additional","affiliation":[{"name":"College of Dentistry, New York University 1 Department of Molecular Pathobiology , , New York , NY 10010,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ziyan","family":"Lin","sequence":"additional","affiliation":[{"name":"NYU Grossman School of Medicine 3 Applied Bioinformatics Laboratory , , New York , NY 10010,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5067-0518","authenticated-orcid":false,"given":"Marko","family":"Horb","sequence":"additional","affiliation":[{"name":"Eugene Bell Center for Regenerative Biology and Tissue Engineering and National Xenopus Resource 2 , Marine Biological Laboratory, Woods Hole , MA 02543,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3259-2103","authenticated-orcid":false,"given":"Jean-Pierre","family":"Saint-Jeannet","sequence":"additional","affiliation":[{"name":"College of Dentistry, New York University 1 Department of Molecular Pathobiology , , New York , NY 10010,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2025,3,24]]},"reference":[{"key":"2025040905224163400_DMM052169C1","doi-asserted-by":"publisher","first-page":"dmm049544","DOI":"10.1242\/dmm.049544","article-title":"Snrpb is required in murine neural crest cells for proper splicing and craniofacial morphogenesis","volume":"15","author":"Alam","year":"2022","journal-title":"Dis. 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