{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T15:16:16Z","timestamp":1759936576530},"reference-count":36,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2004,6,22]],"date-time":"2004-06-22T00:00:00Z","timestamp":1087862400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genet"],"DOI":"10.1186\/1471-2350-5-15","type":"journal-article","created":{"date-parts":[[2004,6,25]],"date-time":"2004-06-25T06:22:18Z","timestamp":1088144538000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Analysis of polymorphic TGFB1codons 10, 25, and 263 in a German patient group with non-syndromic cleft lip, alveolus, and palate compared with healthy adults"],"prefix":"10.1186","volume":"5","author":[{"given":"Christian","family":"Stoll","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Senait","family":"Mengsteab","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Doris","family":"Stoll","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dieter","family":"Riediger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Axel M","family":"Gressner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralf","family":"Weiskirchen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2004,6,22]]},"reference":[{"key":"50_CR1","first-page":"523","volume":"69","author":"Y Shapira","year":"1999","unstructured":"Shapira Y, Lubit E, Kuftinec MM, Borell G: The distribution of clefts of the primary and secondary palates by sex, type, and location. Angle Orthod. 1999, 69: 523-528.","journal-title":"Angle Orthod"},{"key":"50_CR2","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1034\/j.1399-0004.2002.610402.x","volume":"61","author":"JC Murray","year":"2002","unstructured":"Murray JC: Gene\/environment causes of cleft lip and\/or palate. Clin Genet. 2002, 61: 248-256. 10.1034\/j.1399-0004.2002.610402.x.","journal-title":"Clin Genet"},{"key":"50_CR3","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1007\/BF02951261","volume":"156","author":"MW Ferguson","year":"1987","unstructured":"Ferguson MW: Palate development: mechanisms and malformation. Ir J Med Sci. 1987, 156: 309-315.","journal-title":"Ir J Med Sci"},{"key":"50_CR4","first-page":"348","volume":"45","author":"HH Ardinger","year":"1989","unstructured":"Ardinger HH, Buetow KH, Bell GI, Bardach J, von Demark DR, Murray JC: Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate. Am J Hum Genet. 1989, 45: 348-353.","journal-title":"Am J Hum Genet"},{"key":"50_CR5","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1007\/BF00303246","volume":"6","author":"DM Juriloff","year":"1995","unstructured":"Juriloff DM, Mah DG: The major locus for multifactorial nonsyndromic cleft lip maps to mouse chromosome 11. Mamm Genome. 1995, 6: 63-69.","journal-title":"Mamm Genome"},{"key":"50_CR6","doi-asserted-by":"publisher","first-page":"787","DOI":"10.1210\/er.2002-0003","volume":"23","author":"H Chang","year":"2002","unstructured":"Chang H, Brown CW, Matzuk MM: Genetic analysis of the mammalian transforming growth factor-\u03b2 superfamily. Endocrine Rev. 2002, 23: 787-823. 10.1210\/er.2002-0003.","journal-title":"Endocrine Rev"},{"key":"50_CR7","doi-asserted-by":"publisher","first-page":"532","DOI":"10.1126\/science.3487831","volume":"233","author":"MB Sporn","year":"1986","unstructured":"Sporn MB, Roberts AB, Wakefield LM, Assoian RK: Transforming growth factor-beta: biological function and chemical structure. Science. 1986, 233: 532-534.","journal-title":"Science"},{"key":"50_CR8","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1007\/BF01570787","volume":"12","author":"D Fujii","year":"1986","unstructured":"Fujii D, Brissenden JE, Derynck R, Francke U: Transforming growth factor beta gene maps to human chromosome 19 long arm and to mouse chromosome 7. Somat Cell Molec Genet. 1986, 12: 281-288.","journal-title":"Somat Cell Molec Genet"},{"key":"50_CR9","doi-asserted-by":"publisher","first-page":"693","DOI":"10.1038\/359693a0","volume":"359","author":"MM Shull","year":"1992","unstructured":"Shull MM, Ormsby I, Kier AB, Pawlowski S, Diebold RJ, Yin M, Allen R, Sidman C, Proetzel G, Calvin D, Annunziata N, Doetschman T: Targeted disruption of the mouse transforming growth factor-\u03b21 gene results in multifocal inflammatory disease. Nature. 1992, 359: 693-699. 10.1038\/359693a0.","journal-title":"Nature"},{"key":"50_CR10","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1038\/79128","volume":"26","author":"A Kinoshita","year":"2000","unstructured":"Kinoshita A, Saito T, Tomita H, Makita Y, Yoshida K, Ghadami M, Yamada K, Kondo S, Ikegawa S, Nishimura G, Fukushima Y, Nakagomi T, Saito H, Sugimoto T, Kamegaya M, Hisa K, Murray JC, Taniguchi N, Niikawa N, Yoshiura K: Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. Nat Genet. 2000, 26: 19-20. 10.1038\/79128.","journal-title":"Nat Genet"},{"key":"50_CR11","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1038\/81563","volume":"26","author":"K Janssens","year":"2000","unstructured":"Janssens K, Gershoni-Baruch R, Guanabens N, Migone N, Ralston S, Bonduelle M, Lissens W, Van Maldergem L, Vanhoenacker F, Verbruggen L, Van Hul W: Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease. Nat Genet. 2000, 26: 273-275. 10.1038\/81563.","journal-title":"Nat Genet"},{"key":"50_CR12","doi-asserted-by":"publisher","first-page":"198","DOI":"10.1034\/j.1399-0004.2001.590310.x","volume":"59","author":"JT Hecht","year":"2001","unstructured":"Hecht JT, Blanton SH, Broussard S, Scott A, Rhoades Hall C, Milunsky JM: Evidence for locus heterogeneity in the Camurati-Engelmann (DPD1) Syndrome. Clin Genet. 2001, 59: 198-200. 10.1034\/j.1399-0004.2001.590310.x.","journal-title":"Clin Genet"},{"key":"50_CR13","first-page":"662","volume":"6","author":"M Camurati","year":"1922","unstructured":"Camurati M: Di un raro caso di osteite simmetrica ereditaria degli arti inferiori. Chir Organi Mov. 1922, 6: 662-665.","journal-title":"Chir Organi Mov"},{"key":"50_CR14","first-page":"1101","volume":"39","author":"G Engelmann","year":"1928","unstructured":"Engelmann G: Ein Fall von Osteopathia hyperostotica (scleroticans) multiplex infantilis. Fortschr Geb R\u00f6ntgenstr. 1928, 39: 1101-1106.","journal-title":"Fortschr Geb R\u00f6ntgenstr"},{"key":"50_CR15","first-page":"323","volume":"3","author":"DE Barton","year":"1988","unstructured":"Barton DE, Foellmer BE, Du J, Tamm J, Derynck R, Francke U: Chromosomal mapping of genes for transforming growth factors beta-2 and beta-3 in man and mouse: dispersion of TGF-beta gene family. Oncogene Res. 1988, 3: 323-331.","journal-title":"Oncogene Res"},{"key":"50_CR16","doi-asserted-by":"crossref","first-page":"2659","DOI":"10.1242\/dev.124.13.2659","volume":"124","author":"LP Sanford","year":"1997","unstructured":"Sanford LP, Ormsby I, Gittenberger-de Groot AC, Sariola H, Friedman R, Boivin GP, Cardell EL, Doetschman T: TGF\u03b22 knockout mice have multiple developmental defects that are non-overlapping with other TGF\u03b2 knockout phenotypes. Development. 1997, 124: 2659-2670.","journal-title":"Development"},{"key":"50_CR17","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1038\/ng1295-415","volume":"11","author":"V Kaartinen","year":"1995","unstructured":"Kaartinen V, Voncken JW, Shuler C, Warburton D, Bu D, Heisterkamp N, Groffen J: Abnormal lung development and cleft palate in mice lacking TGF-\u03b23 indicates defects of epithelial-mesenchymal interaction. Nat Genet. 1995, 11: 415-421.","journal-title":"Nat Genet"},{"key":"50_CR18","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1038\/ng1295-409","volume":"11","author":"G Proetzel","year":"1995","unstructured":"Proetzel G, Pawlowski SA, Wiles MV, Yin M, Boivin GP, Howles PN, Ding J, Ferguson MW, Doetschman T: Transforming growth factor-\u03b23 is required for secondary palate fusion. Nat Genet. 1995, 11: 409-414.","journal-title":"Nat Genet"},{"key":"50_CR19","doi-asserted-by":"publisher","first-page":"881","DOI":"10.1161\/01.HYP.28.5.881","volume":"28","author":"F Cambien","year":"1996","unstructured":"Cambien F, Ricard S, Troesch A, Mallet C, Generenaz L, Evans A, Arveiler D, Luc G, Ruidavets JB, Poirier O: Polymorphisms of the transforming growth factor-beta1 gene in relation to myocardial infarction and blood pressure: the Etude Cas-Temoin de l'Infarctus du Myocarde (ECTIM) study. Hypertension. 1996, 28: 881-887.","journal-title":"Hypertension"},{"key":"50_CR20","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1093\/hmg\/8.1.93","volume":"8","author":"DJ Grainger","year":"1999","unstructured":"Grainger DJ, Heathcote K, Chiano M, Snieder H, Kemp PR, Metcalfe JC, Carter ND, Spector TD: Genetic control of the circulating concentration of transforming growth factor type \u03b21. Hum Mol Genet. 1999, 8: 93-97. 10.1093\/hmg\/8.1.93.","journal-title":"Hum Mol Genet"},{"key":"50_CR21","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1016\/S0022-1759(99)00127-1","volume":"234","author":"NA Wood","year":"2000","unstructured":"Wood NA, Thomson SC, Smith RM, Bidwell JL: Identification of human TGF-\u03b21 signal leader sequence polymorphisms by PCR-RFLP. J Immunol Methods. 2000, 234: 117-122. 10.1016\/S0022-1759(99)00127-1.","journal-title":"J Immunol Methods"},{"key":"50_CR22","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1016\/j.cyto.2003.08.007","volume":"24","author":"CG Tag","year":"2003","unstructured":"Tag CG, Mengsteab S, Hellerbrand C, Lammert F, Gressner AM, Weiskirchen R: Analysis of the transforming growth factor-\u03b21 (TGF-\u03b21) codon 25 gene polymorphism by LightCycler-analysis in patients with hepatitis C infection. Cytokine. 2003, 24: 173-181. 10.1016\/j.cyto.2003.08.007.","journal-title":"Cytokine"},{"key":"50_CR23","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1016\/S8756-3282(96)00363-8","volume":"20","author":"BL Langdahl","year":"1997","unstructured":"Langdahl BL, Knudsen JY, Jensen HK, Gregersen N, Eriksen EF: A sequence variation: 713-8delC in the transforming growth factor-beta1 gene has higher prevalence in osteoporotic women than in normal women and is associated with very low bone mass in osteoporotic women and increased bone turnover in both osteoporotic and normal women. Bone. 1997, 20: 289-294. 10.1016\/S8756-3282(96)00363-8.","journal-title":"Bone"},{"key":"50_CR24","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1042\/bj3590485","volume":"359","author":"R Weiskirchen","year":"2001","unstructured":"Weiskirchen R, Moser M, Weiskirchen S, Erdel M, Dahmen S, Buettner R, Gressner AM: LIM-domain protein cysteine- and glycine-rich protein 2 (CRP2) is a novel marker of hepatic stellate cells and binding partner of the protein inhibitor of activated STAT1. Biochem J. 2001, 359: 485-496. 10.1042\/0264-6021:3590485.","journal-title":"Biochem J"},{"key":"50_CR25","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1242\/dev.109.3.585","volume":"109","author":"DR Fitzpatrick","year":"1990","unstructured":"Fitzpatrick DR, Denhez F, Kondaiah P, Akhurst RJ: Differential expression of TGF beta isoforms in murine palatogenesis. Development. 1990, 109: 585-595.","journal-title":"Development"},{"key":"50_CR26","doi-asserted-by":"publisher","first-page":"1783","DOI":"10.1177\/00220345990780120401","volume":"78","author":"M Bodo","year":"1999","unstructured":"Bodo M, Baroni T, Carinci F, Becchetti E, Bellucci C, Pezzetti F, Conte C, Evangelisti R, Carinci P: TGF\u03b2 isoforms and decorin gene expression are modified in fibroblasts obtained from non-syndromic cleft lip and palate subjects. J Dent Res. 1999, 78: 1783-1790.","journal-title":"J Dent Res"},{"key":"50_CR27","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1016\/S1359-6101(99)00037-4","volume":"11","author":"DJ Grainger","year":"2000","unstructured":"Grainger DJ, Mosedale DE, Metcalfe JC: TGF-\u03b2 in blood: a complex problem. Cytokine Growth Factor Rev. 2000, 11: 133-145. 10.1016\/S1359-6101(99)00037-4.","journal-title":"Cytokine Growth Factor Rev"},{"key":"50_CR28","first-page":"129","volume":"1","author":"LM Wakefield","year":"1995","unstructured":"Wakefield LM, Letterio JJ, Chen T, Danielpour D, Allison RS, Pai LH, Denicoff AM, Noone MH, Cowan KH, O'Shaughnessy JA: Transforming growth factor-beta1 circulates in normal human plasma and is unchanged in advanced metastatic breast cancer. Clin Cancer Res. 1995, 1: 129-136.","journal-title":"Clin Cancer Res"},{"key":"50_CR29","doi-asserted-by":"publisher","first-page":"659","DOI":"10.1042\/cs0950659","volume":"95","author":"P Syrris","year":"1998","unstructured":"Syrris P, Carter ND, Metcalfe JC, Kemp PR, Grainger DJ, Kaski JC, Crossman DC, Francis SE, Gunn J, Jeffery S, Heathcote K: Transforming growth factor beta1 gene polymorphisms and coronary artery disease. Clin Sci. 1998, 95: 659-667. 10.1042\/CS19980154.","journal-title":"Clin Sci"},{"key":"50_CR30","first-page":"281","volume":"16","author":"MR Cardillo","year":"1997","unstructured":"Cardillo MR, Yap E: TGF-beta1 in colonic neoplasia: a genetic molecular and immunohistochemical study. J Exp Clin Cancer Res. 1997, 16: 281-288.","journal-title":"J Exp Clin Cancer Res"},{"key":"50_CR31","first-page":"57","volume":"16","author":"MR Cardillo","year":"1997","unstructured":"Cardillo MR, Yap E, Castagna G: Molecular genetic analysis of TGF-beta1 in breast cancer. J Exp Clin Cancer Res. 1997, 16: 57-63.","journal-title":"J Exp Clin Cancer Res"},{"key":"50_CR32","first-page":"49","volume":"16","author":"MR Cardillo","year":"1997","unstructured":"Cardillo MR, Yap E, Castagna G: Molecular genetic analysis of TGF-beta1 in ovarian neoplasia. J Exp Clin Cancer Res. 1997, 16: 49-56.","journal-title":"J Exp Clin Cancer Res"},{"key":"50_CR33","doi-asserted-by":"crossref","first-page":"2302","DOI":"10.1681\/ASN.V9122302","volume":"9","author":"F Pociot","year":"1998","unstructured":"Pociot F, Hansen PM, Karlsen AE, Langdahl BL, Johannesen J, Nerup J: TGF-beta1 gene mutations in insulin-dependent diabetes mellitus and diabetic nephropathy. J Am Soc Nephrol. 1998, 9: 2302-2307.","journal-title":"J Am Soc Nephrol"},{"key":"50_CR34","doi-asserted-by":"publisher","first-page":"1958","DOI":"10.1164\/ajrccm.158.6.9804011","volume":"158","author":"K Hobbs","year":"1998","unstructured":"Hobbs K, Negri J, Klinnert M, Rosenwasser LJ, Borish L: Interleukin-10 and transforming growth factor-beta promoter polymorphisms in allergies and asthma. Am J Respir Crit Care Med. 1998, 158: 1958-1962.","journal-title":"Am J Respir Crit Care Med"},{"key":"50_CR35","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1016\/S0165-5728(98)00003-4","volume":"86","author":"B He","year":"1998","unstructured":"He B, Xu C, Yang B, Landtblom AM, Fredrikson S, Hillert J: Linkage and association analysis of genes encoding cytokines and myelin proteins in multiple sclerosis. J Neuroimmunol. 1998, 86: 13-19. 10.1016\/S0165-5728(98)00003-4.","journal-title":"J Neuroimmunol"},{"key":"50_CR36","doi-asserted-by":"publisher","first-page":"653","DOI":"10.1007\/s00439-001-0644-8","volume":"109","author":"B Campos-Xavier","year":"2001","unstructured":"Campos-Xavier B, Saraiva JM, Savarirayan R, Verloes A, Feingold J, Faivre L, Munnich A, Le Merrer M, Cormier-Daire V: Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease. Hum Genet. 2001, 109: 653-658. 10.1007\/s00439-001-0644-8.","journal-title":"Hum Genet"}],"container-title":["BMC Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-5-15.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1471-2350-5-15\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-5-15","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-5-15.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,13]],"date-time":"2024-09-13T15:41:08Z","timestamp":1726242068000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcmedgenet.biomedcentral.com\/articles\/10.1186\/1471-2350-5-15"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,6,22]]},"references-count":36,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2004,12]]}},"alternative-id":["50"],"URL":"https:\/\/doi.org\/10.1186\/1471-2350-5-15","relation":{},"ISSN":["1471-2350"],"issn-type":[{"type":"electronic","value":"1471-2350"}],"subject":[],"published":{"date-parts":[[2004,6,22]]},"assertion":[{"value":"14 February 2004","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 June 2004","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 June 2004","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"15"}}