{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T04:10:54Z","timestamp":1790395854619,"version":"4.1.0"},"reference-count":42,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":5478,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2000,9]]},"abstract":"<jats:sec>\n            <jats:title\/>\n            <jats:p>Mutations of the <jats:italic toggle=\"yes\">JAGGED1<\/jats:italic> gene, encoding a NOTCH receptor ligand, cause Alagille syndrome (AGS), a complex malformative disorder affecting mainly the liver, heart, vertebrae, eye, and face. Minor and occasional features involving kidney, pharynx, systemic arteries, skeleton, and ear are in some cases associated with the syndrome. To describe the expression of <jats:italic toggle=\"yes\">JAGGED1<\/jats:italic> during human embryogenesis and to study its relationship with all the features of AGS, we performed <jats:italic toggle=\"yes\">in situ<\/jats:italic> hybridization studies on human embryos and fetal tissue sections. <jats:italic toggle=\"yes\">JAGGED1<\/jats:italic> was mainly expressed in the cardiovascular system. In the liver, <jats:italic toggle=\"yes\">JAGGED1<\/jats:italic> transcripts were only detected in blood vessels. <jats:italic toggle=\"yes\">JAGGED1<\/jats:italic> was also expressed in other structures of mesenchymal origin (distal mesenchyme of limb buds; mesonephric and metanephric tubules of the kidney) and in epithelial structures including the ciliary margin of the retina and the posterior part of the lens, the ventral epithelium of the otic vesicle, the neurosensory epithelium of the ear vestibule, the epithelium of pharyngeal arches, and the developing central nervous system. The strong <jats:italic toggle=\"yes\">JAGGED1<\/jats:italic> expression during human embryo- and feto-genesis both in the vascular system and in other mesenchymal and epithelial tissues implicates abnormal angiogenesis in the pathogenesis of Alagille syndrome and particularly the paucity of interlobular bile ducts. However, it is probably not the only mechanism of the disease. Except for the central nervous system, there is a strong correlation between <jats:italic toggle=\"yes\">JAGGED1<\/jats:italic> expression and all the features of AGS. This implies that the features occasionally associated with the syndrome are not coincidental.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1053\/jhep.2000.16600","type":"journal-article","created":{"date-parts":[[2004,3,19]],"date-time":"2004-03-19T22:04:05Z","timestamp":1079733845000},"page":"574-581","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":137,"title":["JAGGED1 Gene Expression During Human Embryogenesis Elucidates the Wide Phenotypic Spectrum of Alagille Syndrome"],"prefix":"10.1097","volume":"32","author":[{"given":"C\u00e9cile","family":"Crosnier","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tania","family":"Atti\u00e9-Bitach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F\u00e9recht\u00e9","family":"Encha-Razavi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Audollent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fardouss","family":"Soudy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"Hadchouel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mich\u00e8le","family":"Meunier-Rotival","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Vekemans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"10.1053\/jhep.2000.16600-BIB1","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1038\/ng0797-235","volume":"16","author":"Oda","year":"1997","journal-title":"Nat 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