{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T13:39:48Z","timestamp":1769521188823,"version":"3.49.0"},"reference-count":89,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2021,1,29]],"date-time":"2021-01-29T00:00:00Z","timestamp":1611878400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","doi-asserted-by":"publisher","award":["SFRH\/BD\/146043\/2019"],"award-info":[{"award-number":["SFRH\/BD\/146043\/2019"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","doi-asserted-by":"publisher","award":["UID\/BIM\/04773\/2019 CBMR"],"award-info":[{"award-number":["UID\/BIM\/04773\/2019 CBMR"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JDB"],"abstract":"<jats:p>Spondylocostal dysostosis (SCDO) is a rare heritable congenital condition, characterized by multiple severe malformations of the vertebrae and ribs. Great advances were made in the last decades at the clinical level, by identifying the genetic mutations underlying the different forms of the disease. These were matched by extraordinary findings in the Developmental Biology field, which elucidated the cellular and molecular mechanisms involved in embryo body segmentation into the precursors of the axial skeleton. Of particular relevance was the discovery of the somitogenesis molecular clock that controls the progression of somite boundary formation over time. An overview of these concepts is presented, including the evidence obtained from animal models on the embryonic origins of the mutant-dependent disease. Evidence of an environmental contribution to the severity of the disease is discussed. Finally, a brief reference is made to emerging in vitro models of human somitogenesis which are being employed to model the molecular and cellular events occurring in SCDO. These represent great promise for understanding this and other human diseases and for the development of more efficient therapeutic approaches.<\/jats:p>","DOI":"10.3390\/jdb9010005","type":"journal-article","created":{"date-parts":[[2021,1,29]],"date-time":"2021-01-29T11:34:33Z","timestamp":1611920073000},"page":"5","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Altered Cogs of the Clock: Insights into the Embryonic Etiology of Spondylocostal Dysostosis"],"prefix":"10.3390","volume":"9","author":[{"given":"Ana","family":"N\u00f3brega","sequence":"first","affiliation":[{"name":"CBMR, Centre for Biomedical Research, Universidade do Algarve, 8005-139 Faro, Portugal"},{"name":"Faculdade de Medicina e Ci\u00eancias Biom\u00e9dicas (FMCB), Universidade do Algarve, Campus de Gambelas, 8005-139 Faro, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5086-2632","authenticated-orcid":false,"given":"Ana C.","family":"Maia-Fernandes","sequence":"additional","affiliation":[{"name":"CBMR, Centre for Biomedical Research, Universidade do Algarve, 8005-139 Faro, Portugal"},{"name":"Faculdade de Medicina e Ci\u00eancias Biom\u00e9dicas (FMCB), Universidade do Algarve, Campus de Gambelas, 8005-139 Faro, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0397-5917","authenticated-orcid":false,"given":"Raquel P.","family":"Andrade","sequence":"additional","affiliation":[{"name":"CBMR, Centre for Biomedical Research, Universidade do Algarve, 8005-139 Faro, Portugal"},{"name":"Faculdade de Medicina e Ci\u00eancias Biom\u00e9dicas (FMCB), Universidade do Algarve, Campus de Gambelas, 8005-139 Faro, Portugal"},{"name":"ABC-RI, Algarve Biomedical Center Research Institute, 8005-139 Faro, Portugal"},{"name":"Champalimaud Research Program, Champalimaud Center for the Unknown, 1400-038 Lisbon, Portugal"}]}],"member":"1968","published-online":{"date-parts":[[2021,1,29]]},"reference":[{"key":"ref_1","unstructured":"UNICEF, WHO, and World Bank (2019). 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