{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:55:40Z","timestamp":1791298540158,"version":"4.1.0"},"reference-count":41,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[1997,1,1]],"date-time":"1997-01-01T00:00:00Z","timestamp":852076800000},"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":[[1997,1]]},"DOI":"10.1038\/ng0197-36","type":"journal-article","created":{"date-parts":[[2004,8,18]],"date-time":"2004-08-18T20:19:56Z","timestamp":1092860396000},"page":"36-41","source":"Crossref","is-referenced-by-count":555,"title":["Mutations in TWIST, a basic helix\u2013loop\u2013helix transcription factor, in Saethre-Chotzen syndrome"],"prefix":"10.1038","volume":"15","author":[{"given":"Timothy D.","family":"Howard","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William A.","family":"Paznekas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric D.","family":"Green","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lydia C.","family":"Chiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa Isela Ortiz De","family":"Luna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Costanza Garcia","family":"Delgado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario","family":"Gonzalez-Ramos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoine D.","family":"Kline","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ethylin Wang","family":"Jabs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BFng019736_CR1","first-page":"533","volume":"117","author":"H Saethre","year":"1931","unstructured":"Saethre, H. Ein Eitrag zum Turmschadelproblem(Pathogenese, Erbuchkeit und Symptomologie).DtschZNervenheilkd 117, 533\u2013555 (1931).","journal-title":"DtschZNervenheilkd"},{"key":"BFng019736_CR2","unstructured":"Chotzen, F. Eine eigenartige familiare Entwicklungsstorung (Akrocephalosyndaktylie, Dysostosis craniofacialis und Hypertelorismus). MonatschrKinderheilkdSS, 97\u2013122 (1932)."},{"key":"BFng019736_CR3","first-page":"467","volume-title":"Craniosynostosis: diagnosis, evaluation, and management","author":"MM Cohen Jr.","year":"1986","unstructured":"Cohen, M.M. Jr., Craniosynostosis: diagnosis, evaluation, and management 467\u2013471 (Raven, New York, 1986)."},{"key":"BFng019736_CR4","first-page":"799","volume-title":"Syndromes of the Head and Neck, Syndromes with Craniosynostosis: General Aspects and Well-Known Syndromes, Edn. 3","author":"RJ Gorlin","year":"1990","unstructured":"Gorlin, R.J., Cohen, M.M., & Levin, L.S. Syndromes of the Head and Neck, Syndromes with Craniosynostosis: General Aspects and Well-Known Syndromes, Edn. 3, 799 (Oxford University Press, 1990)."},{"key":"BFng019736_CR5","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1136\/jmg.29.10.681","volume":"29","author":"LA Brueton","year":"1992","unstructured":"Brueton, L.A., van Herwerden, L, Chotai, K.A . & Winter, R.M. The mapping of a gene for Craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p. L Med. Genet. 29, 681\u2013685 (1992).","journal-title":"L Med. Genet."},{"key":"BFng019736_CR6","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1006\/geno.1994.1020","volume":"19","author":"A Lewanda","year":"1994","unstructured":"Lewanda, A. et al. Genetic heterogeneity among Craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p. Genomics 19, 115\u2013119 (1994).","journal-title":"Genomics"},{"key":"BFng019736_CR7","first-page":"669","volume":"54","author":"L van Herwerden","year":"1994","unstructured":"van Herwerden, L. et al. van Herwerden, L. Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p and exclusion of Jackson-Weiss syndrome from Craniosynostosis loci on 7p and 5q. Am. J. Hum. Genet. 54, 669\u2013674 (1994).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng019736_CR8","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1002\/ajmg.1320470511","volume":"47","author":"CS Reid","year":"1993","unstructured":"Reid, C.S. et al.. Saethre-Chotzen syndrome with familial translocation at chromosome 7p22. Am. J. Med.Genet. 47, 637\u2013639 (1993).","journal-title":"Am. J. Med.Genet."},{"key":"BFng019736_CR9","doi-asserted-by":"publisher","first-page":"633","DOI":"10.1002\/ajmg.1320470510","volume":"47","author":"W Reardon","year":"1993","unstructured":"Reardon, W., McManus, S.P., Summers, D. & Winter, R.M. Cytogenetic evidence that the Saethre-Chotzen syndrome gene maps to 7p21. 2. Am. J. Med. Genet. 47, 633\u2013636 (1993).","journal-title":"Am. J. Med. Genet."},{"key":"BFng019736_CR10","first-page":"1195","volume":"55","author":"AF Lewanda","year":"1994","unstructured":"Lewanda, A.F. et al.. Evidence that the Saethre-Chotzen syndrome locus lies between D7S664 and D7S507, by genetic analysis and detection of a microdeletion in a patient. Am. J. Hum. Genet. 55, 1195\u20131201 (1994).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng019736_CR11","doi-asserted-by":"publisher","first-page":"1405","DOI":"10.1093\/hmg\/3.8.1405","volume":"3","author":"CSP Rose","year":"1994","unstructured":"Rose, C.S.P. . et al. Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2. Hum. Mol. Genet. 3, 1405\u20131408 (1994).","journal-title":"Hum. Mol. Genet."},{"key":"BFng019736_CR12","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1136\/jmg.32.3.174","volume":"32","author":"AOM Wilkie","year":"1995","unstructured":"Wilkie, A.O.M. . et al. Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families. J. Med. Genet. 32, 174\u2013180 (1995).","journal-title":"J. Med. Genet."},{"key":"BFng019736_CR13","first-page":"108","volume":"45","author":"K Tsuji","year":"1994","unstructured":"Tsuji, K. et al. Craniosynostosis and hemizygosity for D7S135 caused by a de novo and apparently balanced t(6;7) translocation. Am. J. Med. Genet. 45, 108\u2013110 (1994).","journal-title":"Am. J. Med. Genet."},{"key":"BFng019736_CR14","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1016\/0167-4781(94)90001-9","volume":"1218","author":"C Murre","year":"1994","unstructured":"Murre, C. &lt; et al. Structure and function of helix-loop-helix proteins. Biochimica et Biophysica Acta 1218, 129\u2013135 (1994).","journal-title":"Biochimica et Biophysica Acta"},{"key":"BFng019736_CR15","doi-asserted-by":"publisher","first-page":"2175","DOI":"10.1002\/j.1460-2075.1988.tb03056.x","volume":"7","author":"B Thisse","year":"1988","unstructured":"Thisse, B., Gorostiza-Thisse, C. & Perrin-Schmitt, F. Sequence of the twist gene and nuclear localization of its protein in endomesodermal cells of early Drosophila embryos. EMBO J. 7, 2175\u20132183 (1988).","journal-title":"EMBO J."},{"key":"BFng019736_CR16","doi-asserted-by":"publisher","first-page":"893","DOI":"10.1016\/0092-8674(89)90612-0","volume":"59","author":"ND Hopwood","year":"1989","unstructured":"Hopwood, N.D., Pluck, A. & Gurdon, J.B. Xenopus twist is expressed in response to induction in the mesoderm and the neural crest. Cell 59, 893\u2013879 (1989).","journal-title":"Cell"},{"key":"BFng019736_CR17","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1016\/0012-1606(91)90086-I","volume":"143","author":"C Wolf","year":"1991","unstructured":"Wolf, C. et al. The M-twist gene of Mus is expressed in subsets of mesodermal cells and is closely related to the Xenopus X-twi and the Drosophila twist genes. Dev. Biol 143, 363\u2013373 (1991).","journal-title":"Dev. Biol"},{"key":"BFng019736_CR18","doi-asserted-by":"crossref","unstructured":"Wang, S.M. et al. Cloning of the human TWIST gene: Its expression is retained in adult mesodermally-derived tissues. Gene (in the press).","DOI":"10.1016\/S0378-1119(96)00727-5"},{"key":"BFng019736_CR19","first-page":"A114","volume":"57","author":"BK Goodman","year":"1995","unstructured":"Goodman, B.K., Green, E.D., Lewanda, A.F., Rosengren, S. & Jabs, E.W. Molecular cytogenetic analysis of chromosome 7p anomalies and clinical correlation with Saethre-Chotzen syndrome. Am. J. Hum. Genet. 57, A114 (1995).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng019736_CR20","unstructured":"Krebs, I., Schelbert, A., Hudler, M., Tsuji, K. & Kunz, J. Physical mapping of the 7p15. 3\u201321 region and analysis of a t(6;7) patient with Craniosynostosis. Meeting on Genome Mapping and Sequencing, 140 (Cold Spring Harbor, NY, 1996)."},{"key":"BFng019736_CR21","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1007\/BF00290439","volume":"4","author":"MG Mattei","year":"1993","unstructured":"Mattei, M.G., Stoetzel, C. & Perrin-Schmitt, F. The B-HLH protein encoding the M-twist gene is located by in situ hybridization on murine chromosome 12. Mamm. Genome 4, 127\u2013128 (1993).","journal-title":"Mamm. Genome"},{"key":"BFng019736_CR22","doi-asserted-by":"publisher","first-page":"337","DOI":"10.1006\/geno.1996.0209","volume":"33","author":"RW DeBry","year":"1996","unstructured":"DeBry, R.W. & Seldin, M.F. Human\/Mouse homology relationships. Genomics 33, 337\u2013351 (1996).","journal-title":"Genomics"},{"key":"BFng019736_CR23","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1006\/geno.1993.1191","volume":"16","author":"BL Dubois","year":"1993","unstructured":"Dubois, B.L. & Naylor, S.L. Characterization of NIGMS human\/rodent somatic cell hybrid mapping panel 2 by PCR. Genomics 16, 315\u2013319 (1993).","journal-title":"Genomics"},{"key":"BFng019736_CR24","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1<177::AID-AJMG31>3.0.CO;2-J","volume":"63","author":"S Von Gernet","year":"1996","unstructured":"Von Gernet, S. et al. Craniosynostosis suggestive of Saethre-Chotzen syndrome: Clinical description of a large kindred and exclusion of candidate regions on 7p. Am. J. Med. Genet. 63, 177\u2013184 (1996).","journal-title":"Am. J. Med. Genet."},{"key":"BFng019736_CR25","doi-asserted-by":"publisher","first-page":"4722","DOI":"10.1073\/pnas.87.12.4722","volume":"87","author":"A Voronova","year":"1990","unstructured":"Voronova, A. & Baltimore, D. Mutations that disrupt DNA binding and dimer formation in the E47 helix\u2013loop\u2013helix protein map to distinct domains. Proc. Natl. Acad. Sci.USA 87, 4722\u20134726 (1990).","journal-title":"Proc. Natl. Acad. Sci.USA"},{"key":"BFng019736_CR26","doi-asserted-by":"publisher","first-page":"256","DOI":"10.1038\/ng1194-256","volume":"8","author":"E Steingrimsson","year":"1994","unstructured":"Steingrimsson, E. et al. Molecular basis of mouse microphthalmia (mi) mutations helps explain their development and phenotypic consequences. Nature Genet. 8, 256\u2013263 (1994).","journal-title":"Nature Genet."},{"key":"BFng019736_CR27","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1038\/ng1194-251","volume":"8","author":"M Tassabehji","year":"1994","unstructured":"Tassabehji, M., Newton, V.E. & Read, A.P. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nature Genet. 8, 251\u2013255 (1994).","journal-title":"Nature Genet."},{"key":"BFng019736_CR28","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1093\/genetics\/105.3.615","volume":"105","author":"P Simpson","year":"1983","unstructured":"Simpson, P. Maternal-zygotic gene interactions during formation of the dorsoventral pattern in Drosophila embryos. Genetics 105, 615\u2013632 (1983).","journal-title":"Genetics"},{"key":"BFng019736_CR29","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1016\/0925-4773(95)00369-X","volume":"51","author":"C Stoetzel","year":"1995","unstructured":"Stoetzel, C., Weber, B., Bourgeois, P., Bolcato-Bellemin, A.L. & Perrin-Schmitt, F. Dorso-ventral and rostro-caudal sequential expression of M-twist in the postimplantation murine embryo. Mechan. Dev. 51, 251\u2013263 (1995).","journal-title":"Mechan. Dev."},{"key":"BFng019736_CR30","doi-asserted-by":"publisher","first-page":"316","DOI":"10.1002\/aja.1002040309","volume":"204","author":"EM Fuchtbauer","year":"1995","unstructured":"Fuchtbauer, E.M. Expression of M-Twist during postimplantation development of the mouse. Dev. Dynamics 204, 316\u2013322 (1995).","journal-title":"Dev. Dynamics"},{"key":"BFng019736_CR31","first-page":"1132","volume":"10","author":"SS Murray","year":"1993","unstructured":"Murray, S.S. et al. 1993 Expression of helix\u2013loop\u2013helix regulatory genes during differentiation of mouse osteoblastic cells. J Bone Miner. Res. 10, 1132\u20131138 (1992).","journal-title":"J Bone Miner. Res."},{"key":"BFng019736_CR32","doi-asserted-by":"publisher","first-page":"686","DOI":"10.1101\/gad.9.6.686","volume":"9","author":"Z-F Chen","year":"1995","unstructured":"Chen, Z.-F. & Behringer, R.R. twist is required in head mesenchyme for cranial neural tube morphogenesis. Genes Dev. 9, 686\u2013699 (1995).","journal-title":"Genes Dev."},{"key":"BFng019736_CR33","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1038\/ng0994-98","volume":"8","author":"W Reardon","year":"1994","unstructured":"Reardon, W. et al. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nature Genet. 8, 98\u2013103 (1994).","journal-title":"Nature Genet."},{"key":"BFng019736_CR34","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1038\/ng1194-275","volume":"8","author":"EW Jabs","year":"1995","unstructured":"Jabs, E.W. et al. Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2 (erratum appears in Nature Genet. 9,451(1995)) Nature Genet. 8, 275\u2013279 (1994).","journal-title":"Nature Genet."},{"key":"BFng019736_CR35","doi-asserted-by":"publisher","first-page":"1229","DOI":"10.1093\/hmg\/4.7.1229","volume":"4","author":"W-J Park","year":"1995","unstructured":"Park, W.-J. et al. Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. Hum. Mol. Genet. 4, 1229\u20131233 (1995).","journal-title":"Hum. Mol. Genet."},{"key":"BFng019736_CR36","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1242\/dev.117.2.751","volume":"117","author":"E Shishido","year":"1993","unstructured":"Shishido, E., Higashijima, S., Emori, Y. & Saigo, K., FGF-receptor homologues of Drosophila: one is expressed in mesodermal primordium in early embryos. Development 117, 751\u2013761 (1993).","journal-title":"Development"},{"key":"BFng019736_CR37","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1016\/0014-5793(93)80494-F","volume":"332","author":"Y Emori","year":"1993","unstructured":"Emori, Y. & Saigo, K. Distinct expression of two Drosophila homologs of fibroblast growth factor receptors in imaginal discs. FEBS,332, 111\u2013114 (1993).","journal-title":"FEBS"},{"key":"BFng019736_CR38","doi-asserted-by":"publisher","first-page":"4256","DOI":"10.1073\/pnas.87.11.4256","volume":"87","author":"HM Albertsen","year":"1990","unstructured":"Albertsen, H.M. et al. Construction and characterization of a yeast artificial chromosome library containing seven haploid genome equivalents. Proc. Natl. Acad. Sci. USA 87, 4256\u20134260 (1990).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFng019736_CR39","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1016\/0888-7543(95)80123-4","volume":"25","author":"ED Green","year":"1995","unstructured":"Green, E.D. et al. A human chromosome 7 yeast artificial chromosome (YAC) resource: Construction, characterization, and screening. Genomics 25, 170\u2013183 (1995).","journal-title":"Genomics"},{"key":"BFng019736_CR40","doi-asserted-by":"publisher","first-page":"462","DOI":"10.1038\/ng1295-462","volume":"11","author":"GA Meyers","year":"1995","unstructured":"Meyers, G.A., Orlow, S.A., Munro, I.R., Przylepa, K.A. & Jabs, E.W. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nature Genet. 11, 462\u2013464 (1995).","journal-title":"Nature Genet."},{"key":"BFng019736_CR41","first-page":"241","volume":"13","author":"U Francke","year":"1977","unstructured":"Francke, U., Gonzalez, y., Rivera, E.L., Delgado, C.G., Ramos, M.G. Saethre-Chotzen syndrome (SCS) with additional abnormalities in a Mexican family. New Syndromes, Part B, Annu. Rev. Birth Defects, 13, 241 (1977).","journal-title":"Annu. Rev. Birth Defects"}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng0197-36","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0197-36.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0197-36.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T20:18:23Z","timestamp":1684441103000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng0197-36"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,1]]},"references-count":41,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1997,1]]}},"alternative-id":["BFng019736"],"URL":"https:\/\/doi.org\/10.1038\/ng0197-36","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,1]]}}}