{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T11:47:23Z","timestamp":1767181643410,"version":"build-2238731810"},"update-to":[{"DOI":"10.1371\/journal.pgen.1009896","type":"new_version","label":"New version","source":"publisher","updated":{"date-parts":[[2022,6,14]],"date-time":"2022-06-14T00:00:00Z","timestamp":1655164800000}}],"reference-count":93,"publisher":"Public Library of Science (PLoS)","issue":"6","license":[{"start":{"date-parts":[[2022,6,2]],"date-time":"2022-06-02T00:00:00Z","timestamp":1654128000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"PEDECIBA and ANII"},{"name":"PEDECIBA and ANII"},{"name":"PEDECIBA and ANII"},{"name":"PEDECIBA and ANII"},{"name":"PEDECIBA and ANII"},{"name":"PEDECIBA and ANII"},{"name":"PEDECIBA and ANII"},{"name":"PEDECIBA and ANII"},{"name":"PEDECIBA and ANII"},{"name":"PEDECIBA and ANII"},{"name":"PEDECIBA and ANII"},{"name":"CSIC Universidad de la Rep\u00fablica, Uruguay","award":["CSIC I+D 2016-557"],"award-info":[{"award-number":["CSIC I+D 2016-557"]}]},{"name":"CSIC Universidad de la Rep\u00fablica, Uruguay","award":["CSIC I+D 2016-557"],"award-info":[{"award-number":["CSIC I+D 2016-557"]}]},{"name":"CAP-UdelaR"},{"name":"CAP-UdelaR"},{"name":"FOCEM","award":["COF 03\/11"],"award-info":[{"award-number":["COF 03\/11"]}]}],"content-domain":{"domain":["www.plosgenetics.org"],"crossmark-restriction":false},"short-container-title":["PLoS Genet"],"abstract":"<jats:p>\n                    CCDC28B (coiled-coil domain-containing protein 28B) was identified as a modifier in the ciliopathy Bardet-Biedl syndrome (BBS). Our previous work in cells and zebrafish showed that CCDC28B plays a role regulating cilia length in a mechanism that is not completely understood. Here we report the generation of a\n                    <jats:italic>Ccdc28b<\/jats:italic>\n                    mutant mouse using CRISPR\/Cas9 (\n                    <jats:italic>Ccdc28b mut<\/jats:italic>\n                    ). Depletion of CCDC28B resulted in a mild phenotype.\n                    <jats:italic>Ccdc28b mut<\/jats:italic>\n                    animals\n                    <jats:italic>i)<\/jats:italic>\n                    do not present clear structural cilia affectation, although we did observe mild defects in cilia density and cilia length in some tissues,\n                    <jats:italic>ii)<\/jats:italic>\n                    reproduce normally, and\n                    <jats:italic>iii)<\/jats:italic>\n                    do not develop retinal degeneration or obesity, two hallmark features of reported BBS murine models. In contrast,\n                    <jats:italic>Ccdc28b mut<\/jats:italic>\n                    mice did show clear social interaction defects as well as stereotypical behaviors. This finding is indeed relevant regarding\n                    <jats:italic>CCDC28B<\/jats:italic>\n                    as a modifier of BBS since behavioral phenotypes have been documented in BBS. Overall, this work reports a novel mouse model that will be key to continue evaluating genetic interactions in BBS, deciphering the contribution of\n                    <jats:italic>CCDC28B<\/jats:italic>\n                    to modulate the presentation of BBS phenotypes. In addition, our data underscores a novel link between\n                    <jats:italic>CCDC28B<\/jats:italic>\n                    and behavioral defects, providing a novel opportunity to further our understanding of the genetic, cellular, and molecular basis of these complex phenotypes.\n                  <\/jats:p>","DOI":"10.1371\/journal.pgen.1009896","type":"journal-article","created":{"date-parts":[[2022,6,2]],"date-time":"2022-06-02T13:43:53Z","timestamp":1654177433000},"page":"e1009896","update-policy":"https:\/\/doi.org\/10.1371\/journal.pgen.corrections_policy","source":"Crossref","is-referenced-by-count":4,"title":["Generation and characterization of Ccdc28b mutant mice links the Bardet-Biedl associated gene with mild social behavioral phenotypes"],"prefix":"10.1371","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8248-5464","authenticated-orcid":true,"given":"Mat\u00edas","family":"Fabregat","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7663-3654","authenticated-orcid":true,"given":"Sof\u00eda","family":"Ni\u00f1o-Rivero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabrina","family":"Pose","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9651-1830","authenticated-orcid":true,"given":"Magdalena","family":"C\u00e1rdenas-Rodr\u00edguez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariana","family":"Bresque","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karina","family":"Hern\u00e1ndez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victoria","family":"Prieto-Echag\u00fce","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6108-7988","authenticated-orcid":true,"given":"Geraldine","family":"Schlapp","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9852-5563","authenticated-orcid":true,"given":"Martina","family":"Crispo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3227-065X","authenticated-orcid":true,"given":"Patricia","family":"Lagos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5631-8558","authenticated-orcid":true,"given":"Natalia","family":"Lago","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9611-0903","authenticated-orcid":true,"given":"Carlos","family":"Escande","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9549-0396","authenticated-orcid":true,"given":"Florencia","family":"Irigo\u00edn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0706-8652","authenticated-orcid":true,"given":"Jose 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