{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T13:35:03Z","timestamp":1787664903593,"version":"build-2736575974"},"reference-count":32,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2001,9,17]],"date-time":"2001-09-17T00:00:00Z","timestamp":1000684800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[2001,10]]},"DOI":"10.1038\/ng730","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T08:32:58Z","timestamp":1027672378000},"page":"179-183","source":"Crossref","is-referenced-by-count":202,"title":["The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia"],"prefix":"10.1038","volume":"29","author":[{"given":"Claire","family":"Braybrook","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kit","family":"Doudney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Carolina B.","family":"Mar\u00e7ano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfred","family":"Arnason","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arni","family":"Bjornsson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael A.","family":"Patton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul J.","family":"Goodfellow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gudrun E.","family":"Moore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Stanier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2001,9,17]]},"reference":[{"key":"BFng730z_CR1","doi-asserted-by":"publisher","first-page":"390","DOI":"10.1093\/oxfordjournals.bmb.a072010","volume":"40","author":"I Leck","year":"1984","unstructured":"Leck, I. The geographical distribution of neural tube defects and oral clefts. Br. Med. Bull. 40, 390\u2013395 (1984).","journal-title":"Br. Med. Bull."},{"key":"BFng730z_CR2","first-page":"357","volume-title":"Current Research Trends in Prenatal Craniofacial Development","author":"FC Fraser","year":"1980","unstructured":"Fraser, F.C. The genetics of cleft lip and palate: yet another look. in Current Research Trends in Prenatal Craniofacial Development (eds R.M. Pratt and K.L. Christiansen) 357\u2013366 (National Institutes of Health, 1980)."},{"key":"BFng730z_CR3","doi-asserted-by":"publisher","first-page":"458","DOI":"10.1038\/35076601","volume":"2","author":"AO Wilkie","year":"2001","unstructured":"Wilkie, A.O. & Morriss-Kay, G.M. Genetics of craniofacial development and malformation. Nature Rev. Genet. 2, 458\u2013468 (2001).","journal-title":"Nature Rev. Genet."},{"key":"BFng730z_CR4","first-page":"3","volume":"26","author":"A Bjornsson","year":"1989","unstructured":"Bjornsson, A., Arnason, A. & Tippet, P. X-linked cleft palate and ankyloglossia in an Icelandic family. Cleft Palate J. 26, 3\u20138 (1989).","journal-title":"Cleft Palate J."},{"key":"BFng730z_CR5","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1542\/peds.46.1.123","volume":"46","author":"RB Lowry","year":"1970","unstructured":"Lowry, R.B. Sex linked cleft palate in a British Columbia Indian family. Pediatrics 46, 123\u2013128 (1970).","journal-title":"Pediatrics"},{"key":"BFng730z_CR6","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1007\/BF00286901","volume":"48","author":"AR Rushton","year":"1979","unstructured":"Rushton, A.R. Sex linked inheritance of cleft palate. Hum. Genet. 48, 179\u2013181 (1979).","journal-title":"Hum. Genet."},{"key":"BFng730z_CR7","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1002\/ajmg.1320240309","volume":"24","author":"BR Rollnick","year":"1986","unstructured":"Rollnick, B.R. & Kaye, C.I. Mendelian inheritance of isolated nonsyndromic cleft palate. Am. J. Med. Genet. 24, 465\u2013473 (1986).","journal-title":"Am. J. Med. Genet."},{"key":"BFng730z_CR8","doi-asserted-by":"publisher","first-page":"503","DOI":"10.1002\/ajmg.1320280229","volume":"28","author":"D Bixler","year":"1987","unstructured":"Bixler, D. Letter to the editor: X-linked cleft palate. Am. J. Med. Genet. 28, 503\u2013505 (1987).","journal-title":"Am. J. Med. Genet."},{"key":"BFng730z_CR9","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1002\/ajmg.1320260140","volume":"26","author":"BD Hall","year":"1987","unstructured":"Hall, B.D. Letter to the editor: a further X-linked isolated nonsyndromic cleft palate family with a nonexpressing obligate affected male. Am. J. Med. Genet. 26, 239\u2013240 (1987).","journal-title":"Am. J. Med. Genet."},{"key":"BFng730z_CR10","first-page":"1129","volume":"50","author":"SM Gorski","year":"1992","unstructured":"Gorski, S.M., Adams, K.J., Birch, P.H., Friedman, J.M. & Goodfellow, P.J. The gene responsible for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGK1 and DXYS1. Am. J. Hum. Genet. 50, 1129\u20131136 (1992).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng730z_CR11","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1007\/BF00202859","volume":"94","author":"SM Gorski","year":"1994","unstructured":"Gorski, S.M. et al. Linkage analysis of X-linked cleft palate and ankyloglossia in Manitoba Mennonite and British Columbia Native kindreds. Hum. Genet. 94, 141\u2013148 (1994).","journal-title":"Hum. Genet."},{"key":"BFng730z_CR12","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1038\/326091a0","volume":"326","author":"GE Moore","year":"1987","unstructured":"Moore, G.E. et al. Linkage of an X-chromosome cleft palate gene. Nature 326, 91\u201392 (1987).","journal-title":"Nature"},{"key":"BFng730z_CR13","doi-asserted-by":"publisher","first-page":"549","DOI":"10.1006\/geno.1993.1370","volume":"17","author":"P Stanier","year":"1993","unstructured":"Stanier, P. et al. The localization of a gene causing X-linked cleft palate and ankyloglossia (CPX) in an Icelandic kindred is between DXS326 and DXYS1X. Genomics 17, 549\u2013555 (1993).","journal-title":"Genomics"},{"key":"BFng730z_CR14","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1016\/S0378-1119(00)00326-7","volume":"255","author":"F Laugier-Anfossi","year":"2000","unstructured":"Laugier-Anfossi, F. & Villard, L. Molecular characterization of a new human T-box gene (TBX22) located in xq21.1 encoding a protein containing a truncated T-domain. Gene 255, 289\u2013296 (2000).","journal-title":"Gene"},{"key":"BFng730z_CR15","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1002\/(SICI)1521-1878(199801)20:1<9::AID-BIES4>3.0.CO;2-Q","volume":"20","author":"VE Papaioannou","year":"1998","unstructured":"Papaioannou, V.E. & Silver, L.M. The T-box gene family. BioEssays 20, 9\u201319 (1998).","journal-title":"BioEssays"},{"key":"BFng730z_CR16","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1006\/geno.1996.0006","volume":"31","author":"SA Forbes","year":"1996","unstructured":"Forbes, S.A. et al. Refined mapping and YAC contig construction of the X-linked cleft palate and ankyloglossia locus (CPX) including the proximal X-Y homology breakpoint within Xq21.3. Genomics 31, 36\u201343 (1996).","journal-title":"Genomics"},{"key":"BFng730z_CR17","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1007\/s004390100518","volume":"108","author":"C Braybrook","year":"2001","unstructured":"Braybrook, C. et al. Physical and transcriptional mapping of the X-linked cleft palate and ankyloglossia (CPX) critical region. Hum. Genet. 108, 537\u2013545 (2001).","journal-title":"Hum. Genet."},{"key":"BFng730z_CR18","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1016\/S0378-1119(97)00586-6","volume":"206","author":"MP Richardson","year":"1998","unstructured":"Richardson, M.P., Braybrook, C., Tham, M., Moore, G.E. & Stanier, P. Molecular cloning and characterization of a highly conserved human 67k-Da laminin receptor pseudogene mapping to Xq21.3. Gene 206, 145\u2013150 (1998).","journal-title":"Gene"},{"key":"BFng730z_CR19","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1006\/geno.2000.6478","volume":"72","author":"C Braybrook","year":"2001","unstructured":"Braybrook, C. et al. Identification and characterization of KLHL4, a novel human homologue of the Drosophila kelch gene that maps within the X-linked cleft palate and ankyloglossia (CPX) critical region. Genomics 72, 128\u2013136 (2001).","journal-title":"Genomics"},{"key":"BFng730z_CR20","volume-title":"Handbook of Congenital Malformations","author":"CJ Wiktop","year":"1967","unstructured":"Wiktop, C.J., MacCollum, D.W. & Rubin, A. Handbook of Congenital Malformations (Saunders, Philadelphia, 1967)."},{"key":"BFng730z_CR21","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1007\/s004390051048","volume":"106","author":"NJ Prescott","year":"2000","unstructured":"Prescott, N.J., Lees, M.M, Winter, R.M. & Malcolm, S. Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs. Hum. Genet. 106, 345\u2013350 (2000).","journal-title":"Hum. Genet."},{"key":"BFng730z_CR22","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1016\/S0168-9525(98)01658-8","volume":"15","author":"MR Culbertson","year":"1999","unstructured":"Culbertson, M.R. RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer. Trends Genet. 15, 74\u201380 (1999).","journal-title":"Trends Genet."},{"key":"BFng730z_CR23","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1038\/ng740","volume":"29","author":"MA S\u00f6zen","year":"2001","unstructured":"S\u00f6zen, M.A. et al. Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip\/palate in northern Venezuela. Nature Genet. 29, 141\u2013142 (2001).","journal-title":"Nature Genet."},{"key":"BFng730z_CR24","first-page":"114","volume":"97","author":"N Dobrovolskaia-Zavadskaia","year":"1927","unstructured":"Dobrovolskaia-Zavadskaia, N. Sur la mortification spontan\u00e9e de la queue chez la souris nouveau-n\u00e9e et sur l'existence d'un caract\u00e8re (facteur) h\u00e9r\u00e9ditaire 'non-viable'. C. R. Seanc. Soc. Biol. 97, 114\u2013116 (1927).","journal-title":"C. R. Seanc. Soc. Biol."},{"key":"BFng730z_CR25","doi-asserted-by":"publisher","first-page":"657","DOI":"10.1038\/343657a0","volume":"343","author":"DG Wilkinson","year":"1990","unstructured":"Wilkinson, D.G., Bhatt, S. & Herrmann, B.G. Expression pattern of the mouse T gene and its role in mesoderm formation. Nature 343, 657\u2013659 (1990).","journal-title":"Nature"},{"key":"BFng730z_CR26","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1038\/ng0797-311","volume":"16","author":"M Bamshad","year":"1997","unstructured":"Bamshad, M. et al. Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nature Genet. 16, 311\u2013315 (1997).","journal-title":"Nature Genet."},{"key":"BFng730z_CR27","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1038\/ng0197-30","volume":"15","author":"CT Basson","year":"1997","unstructured":"Basson, C.T. et al. Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome. Nature Genet. 15, 30\u201335 (1997).","journal-title":"Nature Genet."},{"key":"BFng730z_CR28","doi-asserted-by":"publisher","first-page":"286","DOI":"10.1038\/85845","volume":"27","author":"LA Jerome","year":"2001","unstructured":"Jerome, L.A. & Papaioannou, V.E. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nature Genet. 27, 286\u2013291 (2001).","journal-title":"Nature Genet."},{"key":"BFng730z_CR29","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1038\/35065105","volume":"410","author":"EA Lindsay","year":"2001","unstructured":"Lindsay, E.A. et al. Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice. Nature 410, 97\u2013101 (2001).","journal-title":"Nature"},{"key":"BFng730z_CR30","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1046\/j.1440-169x.2001.00556.x","volume":"43","author":"M Tada","year":"2001","unstructured":"Tada, M. & Smith, J.C. T-targets: clues to understanding the functions of T-box proteins. Dev. Growth Differ. 43, 1\u201311 (2001).","journal-title":"Dev. Growth Differ."},{"key":"BFng730z_CR31","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1038\/ng1295-409","volume":"11","author":"G Proetzel","year":"1995","unstructured":"Proetzel, G. et al. Transforming growth factor\u2013\u03b2 3 is required for secondary palate fusion. Nature Genet. 11, 409\u2013414 (1995).","journal-title":"Nature Genet."},{"key":"BFng730z_CR32","doi-asserted-by":"publisher","first-page":"158","DOI":"10.1038\/sj.ejhg.5200179","volume":"6","author":"EL Wakeling","year":"1998","unstructured":"Wakeling, E.L., Abu-Amero, S.N., Stanier, P., Preece, M.A. & Moore, G.E. Human EGFR, a candidate for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues. Eur. J. Hum. Genet. 6, 158\u2013164 (1998).","journal-title":"Eur. J. Hum. Genet."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng730z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng730z","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng730z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T22:15:34Z","timestamp":1684448134000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng730z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,9,17]]},"references-count":32,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2001,10]]}},"alternative-id":["BFng730z"],"URL":"https:\/\/doi.org\/10.1038\/ng730","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,9,17]]}}}