{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T22:58:30Z","timestamp":1791845910151,"version":"4.3.4"},"reference-count":33,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T00:00:00Z","timestamp":1698364800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002738","name":"Assistance Publique - H\u00f4pitaux de Paris","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002738","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010381","name":"European Society for Paediatric Endocrinology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010381","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005302","name":"Alexander S. Onassis Public Benefit Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005302","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011218","name":"Sandoz","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011218","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100016036","name":"Electricit\u00e9 de France","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100016036","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004334","name":"Merck","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004334","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p><jats:italic>BOREALIN<\/jats:italic>\/<jats:italic>CDCA8<\/jats:italic> mutations are associated with congenital hypothyroidism and thyroid dysgenesis. Borealin is involved in mitosis as part of the Chromosomal Passenger Complex. Although <jats:italic>BOREALIN<\/jats:italic> mutations decrease thyrocyte adhesion and migration, little is known about the specific role of Borealin in the thyroid.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We characterized thyroid development and function in Borealin-deficient (<jats:italic>Borealin<\/jats:italic><jats:sup>+\/\u2212<\/jats:sup>) mice using histology, transcriptomic analysis, and quantitative PCR.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Thyroid development was impaired with a hyperplastic anlage on embryonic day E9.5 followed by thyroid hypoplasia from E11.5 onward. Adult <jats:italic>Borealin<\/jats:italic><jats:sup>+\/\u2212<\/jats:sup> mice exhibited euthyroid goiter and defect in thyroid hormone synthesis. <jats:italic>Borealin<\/jats:italic><jats:sup>+\/\u2212<\/jats:sup> aged mice had disorganized follicles and papillary-like structures in thyroids due to ERK pathway activation and a strong increase of <jats:italic>Braf<\/jats:italic>-like genes described by The Cancer Genome Atlas (TCGA) network of papillary thyroid carcinoma. Moreover, <jats:italic>Borealin<\/jats:italic><jats:sup>+\/\u2212<\/jats:sup> thyroids exhibited structural and transcriptomic similarities with papillary thyroid carcinoma tissue from a human patient harboring a <jats:italic>BOREALIN<\/jats:italic> mutation, suggesting a role in thyroid tumor susceptibility.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>These findings demonstrate Borealin involvement in critical steps of thyroid structural development and function throughout life. They support a role for Borealin in thyroid dysgenesis with congenital hypothyroidism. Close monitoring for thyroid cancer seems warranted in patients carrying <jats:italic>BOREALIN<\/jats:italic> mutations.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fendo.2023.1286747","type":"journal-article","created":{"date-parts":[[2023,10,28]],"date-time":"2023-10-28T21:44:42Z","timestamp":1698529482000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Borealin\/CDCA8 deficiency alters thyroid development and results in papillary tumor-like 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