{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:12Z","timestamp":1761718032562,"version":"3.37.3"},"reference-count":0,"publisher":"Wiley","license":[{"start":{"date-parts":[[2006,1,1]],"date-time":"2006-01-01T00:00:00Z","timestamp":1136073600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Italian Telethon"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Scientific World JOURNAL"],"published-print":{"date-parts":[[2006]]},"abstract":"<jats:p>The 22q11.2 deletion\/DiGeorge syndrome is a relatively common \u201cgenomic\u201d disorder that results from heterozygous deletion of a 3-Mbp segment of chromosome 22. Of the more than 30 genes deleted in this syndrome,<jats:italic>TBX1<\/jats:italic>is the only one that has been found to be mutated in some patients with a phenotype that is very similar to that of patients with the full deletion, suggesting that<jats:italic>TBX1<\/jats:italic>haploinsufficiency is a major contributor to the syndrome\u0092s phenotype. Multi- and single-gene mouse models have provided a considerable amount of information about the consequences of decreased and increased dosage of the genomic region (and in particular of the<jats:italic>Tbx1<\/jats:italic>gene) on mouse embryonic development. Modified alleles of<jats:italic>Tbx1<\/jats:italic>, as well as conditional ablation strategies have been utilized to map<jats:italic>in vivo<\/jats:italic>the tissues and developmental stages most sensitive to gene dosage. These experiments have revealed substantially different sensitivity to gene dosage in different tissues and at different times, underlying the importance of the developmental context within which gene dosage reduction occurs.<\/jats:p>","DOI":"10.1100\/tsw.2006.317","type":"journal-article","created":{"date-parts":[[2007,5,25]],"date-time":"2007-05-25T07:38:32Z","timestamp":1180078712000},"page":"1881-1887","source":"Crossref","is-referenced-by-count":23,"title":["The 22q11.2 Deletion Syndrome: A Gene Dosage Perspective"],"prefix":"10.1100","volume":"6","author":[{"given":"Antonio","family":"Baldini","sequence":"first","affiliation":[{"name":"Department of Pediatrics (Cardiology) and Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030 and CEINGE Institute, University Federico II, Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","container-title":["The Scientific World JOURNAL"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/tswj\/2006\/280907.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/tswj\/2006\/280907.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2016,8,23]],"date-time":"2016-08-23T04:17:54Z","timestamp":1471925874000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/tswj\/2006\/280907\/abs\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006]]},"references-count":0,"alternative-id":["280907"],"URL":"https:\/\/doi.org\/10.1100\/tsw.2006.317","relation":{},"ISSN":["1537-744X"],"issn-type":[{"type":"electronic","value":"1537-744X"}],"subject":[],"published":{"date-parts":[[2006]]}}}