{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T05:22:35Z","timestamp":1791350555220,"version":"4.3.1"},"reference-count":29,"publisher":"The Company of Biologists","license":[{"start":{"date-parts":[[2016,8,15]],"date-time":"2016-08-15T00:00:00Z","timestamp":1471219200000},"content-version":"vor","delay-in-days":227,"URL":"http:\/\/www.biologists.com\/user-licence-1-1"}],"funder":[{"DOI":"10.13039\/501100004794","name":"Centre National de la Recherche Scientifique","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004794","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005737","name":"Universit\u00e9 Pierre et Marie Curie","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005737","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007393","name":"Association Francaise contre les Myopathies","doi-asserted-by":"publisher","award":["11405"],"award-info":[{"award-number":["11405"]}],"id":[{"id":"10.13039\/100007393","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,1,1]]},"abstract":"<jats:p>DiGeorge syndrome (DGS) is a congenital disease causing cardiac outflow tract anomalies, craniofacial dysmorphogenesis, thymus hypoplasia, and mental disorders. It results from defective development of neural crest cells (NC) that colonize the pharyngeal arches and contribute to lower jaw, neck and heart tissues. Although TBX1 has been identified as the main gene accounting for the defects observed in human patients and mouse models, the molecular mechanisms underlying DGS etiology are poorly identified. The recent demonstrations that SDF1-CXCR4 axis is implicated in NC chemotactic guidance and impaired in cortical interneurons of mouse DGS models prompted us to search for genetic interactions between Tbx1, Sdf1\/Cxcl12 and Cxcr4 in pharyngeal NC and to investigate the effect of altering CXCR4 signaling on the ontogeny of their derivatives affected in DGS. Here, we provide evidence that Cxcr4 and Sdf1\/Cxcl12 are genetically downstream of Tbx1 during pharyngeal NC development and that reduction of CXCR4 signaling causes misrouting of pharyngeal NC in chick and dramatic morphological alterations in the mandibular skeleton, thymus and cranial sensory ganglia. Our results therefore underlines the possibility of a pivotal role for SDF1\/CXCR4 axis in DGS etiology.<\/jats:p>","DOI":"10.1242\/dev.126573","type":"journal-article","created":{"date-parts":[[2016,1,12]],"date-time":"2016-01-12T03:19:11Z","timestamp":1452568751000},"source":"Crossref","is-referenced-by-count":33,"title":["Disruption of CXCR4 signaling in pharyngeal neural crest cells causes DiGeorge syndrome-like malformations"],"prefix":"10.1242","author":[{"given":"Sophie","family":"Escot","sequence":"first","affiliation":[{"name":"Universit\u00e9 Pierre et Marie Curie, Laboratoire de Biologie du D\u00e9veloppement, Paris, 75252 Cedex 5, France"},{"name":"CNRS, Laboratoire de Biologie du D\u00e9veloppement, Paris, 75252 Cedex 5, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9drine","family":"Blavet","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Pierre et Marie Curie, Laboratoire de Biologie du D\u00e9veloppement, Paris, 75252 Cedex 5, France"},{"name":"CNRS, Laboratoire de Biologie du D\u00e9veloppement, Paris, 75252 Cedex 5, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilie","family":"Faure","sequence":"additional","affiliation":[{"name":"Aix Marseille Universit\u00e9, GMGF UMRS910, Facult\u00e9 de M\u00e9decine, 27 Bd Jean Moulin, 13385 Marseille, France"},{"name":"Inserm U910, Facult\u00e9 de M\u00e9decine, 27 Bd Jean Moulin, 13005 Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Zaffran","sequence":"additional","affiliation":[{"name":"Aix Marseille Universit\u00e9, GMGF UMRS910, Facult\u00e9 de M\u00e9decine, 27 Bd Jean Moulin, 13385 Marseille, France"},{"name":"Inserm U910, Facult\u00e9 de M\u00e9decine, 27 Bd Jean Moulin, 13005 Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Loup","family":"Duband","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Pierre et Marie Curie, Laboratoire de Biologie du D\u00e9veloppement, Paris, 75252 Cedex 5, France"},{"name":"CNRS, Laboratoire de Biologie du D\u00e9veloppement, Paris, 75252 Cedex 5, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Fournier-Thibault","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Pierre et Marie Curie, Laboratoire de Biologie du D\u00e9veloppement, Paris, 75252 Cedex 5, France"},{"name":"CNRS, Laboratoire de Biologie du D\u00e9veloppement, Paris, 75252 Cedex 5, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","reference":[{"key":"2021042608445097800_DEV126573C1","doi-asserted-by":"publisher","first-page":"6692","DOI":"10.1074\/jbc.M408481200","article-title":"Identification of the cytoplasmic domains of CXCR4 involved in Jak2 and STAT3 phosphorylation","volume":"280","author":"Ahr","year":"2005","journal-title":"J. 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