{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T04:31:04Z","timestamp":1792816264838,"version":"4.5.0"},"reference-count":17,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2016,8,1]],"date-time":"2016-08-01T00:00:00Z","timestamp":1470009600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,2,4]],"date-time":"2017-02-04T00:00:00Z","timestamp":1486166400000},"content-version":"vor","delay-in-days":187,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["ajhg.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2016,8]]},"DOI":"10.1016\/j.ajhg.2016.06.005","type":"journal-article","created":{"date-parts":[[2016,7,16]],"date-time":"2016-07-16T03:48:29Z","timestamp":1468640909000},"page":"407-413","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":48,"title":["Heterozygous Mutations in MAP3K7 , Encoding TGF-\u03b2-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome"],"prefix":"10.1016","volume":"99","author":[{"given":"Carine","family":"Le\u00a0Goff","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Curtis","family":"Rogers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wilfried","family":"Le\u00a0Goff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graziella","family":"Pinto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Bonnet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maya","family":"Chrabieh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Alibeu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Nistchke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnold","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Capucine","family":"Picard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Cormier-Daire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2016.06.005_bib1","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1002\/ajmg.a.33277","article-title":"Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)--a distinct syndrome?","volume":"152A","author":"Sousa","year":"2010","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2016.06.005_bib2","doi-asserted-by":"crossref","first-page":"2008","DOI":"10.1126\/science.270.5244.2008","article-title":"Identification of a member of the MAPKKK family as a potential mediator of TGF-beta signal transduction","volume":"270","author":"Yamaguchi","year":"1995","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2016.06.005_bib3","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1016\/S1097-2765(00)80244-0","article-title":"TAB2, a novel adaptor protein, mediates activation of TAK1 MAPKKK by linking TAK1 to TRAF6 in the IL-1 signal transduction pathway","volume":"5","author":"Takaesu","year":"2000","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2016.06.005_bib4","doi-asserted-by":"crossref","first-page":"25753","DOI":"10.1074\/jbc.M109.093468","article-title":"Autoactivation of transforming growth factor beta-activated kinase 1 is a sequential bimolecular process","volume":"285","author":"Scholz","year":"2010","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2016.06.005_bib5","doi-asserted-by":"crossref","first-page":"2852","DOI":"10.4161\/cc.5.24.3558","article-title":"TGF-beta activated kinase-1: new insights into the diverse roles of TAK1 in development and immunity","volume":"5","author":"Delaney","year":"2006","journal-title":"Cell Cycle"},{"key":"10.1016\/j.ajhg.2016.06.005_bib6","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1038\/ni1255","article-title":"Essential function for the kinase TAK1 in innate and adaptive immune responses","volume":"6","author":"Sato","year":"2005","journal-title":"Nat. Immunol."},{"key":"10.1016\/j.ajhg.2016.06.005_bib7","doi-asserted-by":"crossref","first-page":"1784","DOI":"10.1002\/jbmr.79","article-title":"TAK1 regulates cartilage and joint development via the MAPK and BMP signaling pathways","volume":"25","author":"Gunnell","year":"2010","journal-title":"J.\u00a0Bone Miner. Res."},{"key":"10.1016\/j.ajhg.2016.06.005_bib8","doi-asserted-by":"crossref","first-page":"2457","DOI":"10.1172\/JCI42285","article-title":"The p38 MAPK pathway is essential for skeletogenesis and bone homeostasis in mice","volume":"120","author":"Greenblatt","year":"2010","journal-title":"J.\u00a0Clin. Invest."},{"key":"10.1016\/j.ajhg.2016.06.005_bib9","doi-asserted-by":"crossref","first-page":"18485","DOI":"10.1074\/jbc.M207453200","article-title":"A resorcylic acid lactone, 5Z-7-oxozeaenol, prevents inflammation by inhibiting the catalytic activity of TAK1 MAPK kinase kinase","volume":"278","author":"Ninomiya-Tsuji","year":"2003","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2016.06.005_bib10","doi-asserted-by":"crossref","first-page":"5704","DOI":"10.1242\/jcs.135483","article-title":"TAK1 regulates SOX9 expression in chondrocytes and is essential for postnatal development of the growth plate and articular cartilages","volume":"126","author":"Gao","year":"2013","journal-title":"J.\u00a0Cell Sci."},{"key":"10.1016\/j.ajhg.2016.06.005_bib11","doi-asserted-by":"crossref","first-page":"5028","DOI":"10.1158\/1078-0432.CCR-07-0300","article-title":"Deletion of a small consensus region at 6q15, including the MAP3K7 gene, is significantly associated with high-grade prostate cancers","volume":"13","author":"Liu","year":"2007","journal-title":"Clin. Cancer Res."},{"key":"10.1016\/j.ajhg.2016.06.005_bib12","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1073\/pnas.0909781107","article-title":"Disruption of TAK1 in hepatocytes causes hepatic injury, inflammation, fibrosis, and carcinogenesis","volume":"107","author":"Inokuchi","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2016.06.005_bib13","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1038\/nature07968","article-title":"Mutations of multiple genes cause deregulation of NF-kappaB in diffuse large B-cell lymphoma","volume":"459","author":"Compagno","year":"2009","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2016.06.005_bib14","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1182\/blood-2011-07-369397","article-title":"Essential role of TAK1 in regulating mantle cell lymphoma survival","volume":"120","author":"Buglio","year":"2012","journal-title":"Blood"},{"key":"10.1016\/j.ajhg.2016.06.005_bib15","doi-asserted-by":"crossref","first-page":"2105","DOI":"10.1016\/j.yexcr.2012.06.015","article-title":"Angiotensin II increases CTGF expression via MAPKs\/TGF-\u03b21\/TRAF6 pathway in atrial fibroblasts","volume":"318","author":"Gu","year":"2012","journal-title":"Exp. Cell Res."},{"key":"10.1016\/j.ajhg.2016.06.005_bib16","doi-asserted-by":"crossref","first-page":"2562","DOI":"10.1038\/ncomms3562","article-title":"Smad6 inhibits non-canonical TGF-\u03b21 signalling by recruiting the deubiquitinase A20 to TRAF6","volume":"4","author":"Jung","year":"2013","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2016.06.005_bib17","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1111\/j.1399-0004.2007.00757.x","article-title":"Interstitial deletions of chromosome 6q: genotype-phenotype\u00a0correlation utilizing array CGH","volume":"71","author":"Klein","year":"2007","journal-title":"Clin. Genet."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929716302075?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929716302075?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,10]],"date-time":"2018-09-10T10:20:22Z","timestamp":1536574822000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929716302075"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,8]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016,8]]}},"alternative-id":["S0002929716302075"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2016.06.005","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2016,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Heterozygous Mutations in MAP3K7, Encoding TGF-\u03b2-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2016.06.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2016.05.024","name":"associatedlink","label":"CrossRef DOI link to the associated document"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}