{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T12:58:33Z","timestamp":1793278713180,"version":"4.5.0"},"reference-count":28,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2018,12,1]],"date-time":"2018-12-01T00:00:00Z","timestamp":1543622400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,6,6]],"date-time":"2019-06-06T00:00:00Z","timestamp":1559779200000},"content-version":"vor","delay-in-days":187,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100004257","name":"Western Norway Regional Health Authority","doi-asserted-by":"publisher","award":["911977"],"award-info":[{"award-number":["911977"]}],"id":[{"id":"10.13039\/501100004257","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004257","name":"Western Norway Regional Health Authority","doi-asserted-by":"publisher","award":["912161"],"award-info":[{"award-number":["912161"]}],"id":[{"id":"10.13039\/501100004257","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Dr. Jon S. Larsens Foundation"},{"name":"Olav Raagholt and Gerd Meidel Raagholt Foundation for Research"},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["HG200328 12"],"award-info":[{"award-number":["HG200328 12"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["HG200388 04"],"award-info":[{"award-number":["HG200388 04"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"name":"NIH Intramural Sequencing Center"},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"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":[[2018,12]]},"DOI":"10.1016\/j.ajhg.2018.10.013","type":"journal-article","created":{"date-parts":[[2018,11,15]],"date-time":"2018-11-15T10:15:51Z","timestamp":1542276951000},"page":"976-983","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":25,"title":["Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome"],"prefix":"10.1016","volume":"103","author":[{"given":"Linda","family":"Xu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanne","family":"Jensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer J.","family":"Johnston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilio","family":"Di Maria","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja","family":"Kloth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ileana","family":"Cristea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie C.","family":"Sapp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas N.","family":"Darling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laryssa A.","family":"Huryn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisbeth","family":"Tranebj\u00e6rg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Cinotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Kubisch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eyvind","family":"R\u00f8dahl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ove","family":"Bruland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie G.","family":"Biesecker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gunnar","family":"Houge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilie","family":"Bredrup","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2018.10.013_bib1","doi-asserted-by":"crossref","first-page":"2709","DOI":"10.1002\/ajmg.a.31543","article-title":"Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: A \u201cnew\u201d syndrome?","volume":"140","author":"Warburg","year":"2006","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2018.10.013_bib2","doi-asserted-by":"crossref","first-page":"1214","DOI":"10.1002\/ajmg.a.35908","article-title":"Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: A variant of polyfibromatosis?","volume":"161A","author":"Cinotti","year":"2013","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2018.10.013_bib3","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/B978-0-12-800180-6.00002-5","article-title":"Discoidin domain receptor functions in\u00a0physiological and pathological conditions","volume":"310","author":"Leitinger","year":"2014","journal-title":"Int. Rev. Cell Mol. Biol."},{"key":"10.1016\/j.ajhg.2018.10.013_bib4","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/j.matbio.2013.12.002","article-title":"Discoidin domain receptors in disease","volume":"34","author":"Borza","year":"2014","journal-title":"Matrix Biol."},{"key":"10.1016\/j.ajhg.2018.10.013_bib5","first-page":"609","article-title":"Distinct structural characteristics of discoidin I subfamily receptor tyrosine kinases and complementary expression in human cancer","volume":"10","author":"Alves","year":"1995","journal-title":"Oncogene"},{"key":"10.1016\/j.ajhg.2018.10.013_bib6","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1007\/s10555-012-9346-z","article-title":"Discoidin domain receptor tyrosine kinases: New players in cancer progression","volume":"31","author":"Valiathan","year":"2012","journal-title":"Cancer Metastasis Rev."},{"key":"10.1016\/j.ajhg.2018.10.013_bib7","doi-asserted-by":"crossref","first-page":"39058","DOI":"10.1074\/jbc.M506921200","article-title":"Tyrosine 740 phosphorylation of discoidin domain receptor 2 by Src stimulates intramolecular autophosphorylation and Shc signaling complex formation","volume":"280","author":"Yang","year":"2005","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2018.10.013_bib8","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.21137","article-title":"Elucidation of a four-site allosteric network in fibroblast growth factor receptor tyrosine kinases","volume":"6","author":"Chen","year":"2017","journal-title":"eLife"},{"key":"10.1016\/j.ajhg.2018.10.013_bib9","doi-asserted-by":"crossref","first-page":"1666","DOI":"10.1101\/gad.300384.117","article-title":"STAT1 modulates tissue wasting or overgrowth downstream from PDGFR\u03b2","volume":"31","author":"He","year":"2017","journal-title":"Genes Dev."},{"key":"10.1016\/j.ajhg.2018.10.013_bib10","doi-asserted-by":"crossref","first-page":"2687","DOI":"10.1021\/acschembio.5b00655","article-title":"Characterization of DDR2 inhibitors for the treatment of DDR2 mutated nonsmall cell lung cancer","volume":"10","author":"Terai","year":"2015","journal-title":"ACS Chem. Biol."},{"key":"10.1016\/j.ajhg.2018.10.013_bib11","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1111\/cbdd.12863","article-title":"Synthesis and biological evaluation of novel dasatinib analogues as potent DDR1 and DDR2 kinase inhibitors","volume":"89","author":"Liu","year":"2017","journal-title":"Chem. Biol. Drug Des."},{"key":"10.1016\/j.ajhg.2018.10.013_bib12","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1016\/j.ajhg.2015.07.009","article-title":"A point mutation in PDGFRB causes autosomal-dominant penttinen syndrome","volume":"97","author":"Johnston","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2018.10.013_bib13","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1186\/s12885-017-3115-x","article-title":"Case report: Rapid and durable response to PDGFR targeted therapy in a child with refractory multiple infantile myofibromatosis and a heterozygous germline mutation of the PDGFRB gene","volume":"17","author":"Mudry","year":"2017","journal-title":"BMC Cancer"},{"key":"10.1016\/j.ajhg.2018.10.013_bib14","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1038\/gim.2017.104","article-title":"A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib","volume":"20","author":"Pond","year":"2018","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2018.10.013_bib15","doi-asserted-by":"crossref","first-page":"2489","DOI":"10.1002\/jbmr.159","article-title":"Transcriptional upregulation of DDR2 by ATF4 facilitates osteoblastic differentiation through p38 MAPK-mediated Runx2 activation","volume":"25","author":"Lin","year":"2010","journal-title":"J.\u00a0Bone Miner. Res."},{"key":"10.1016\/j.ajhg.2018.10.013_bib16","doi-asserted-by":"crossref","first-page":"ra31","DOI":"10.1126\/scisignal.2005835","article-title":"DDR2 (discoidin domain receptor 2) suppresses osteoclastogenesis and is a potential therapeutic target in osteoporosis","volume":"8","author":"Zhang","year":"2015","journal-title":"Sci. Signal."},{"key":"10.1016\/j.ajhg.2018.10.013_bib17","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.bone.2013.10.001","article-title":"Collagen advanced glycation inhibits its discoidin domain receptor 2 (DDR2)-mediated induction of lysyl oxidase in osteoblasts","volume":"58","author":"Khosravi","year":"2014","journal-title":"Bone"},{"key":"10.1016\/j.ajhg.2018.10.013_bib18","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/j.ajhg.2008.12.004","article-title":"Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications","volume":"84","author":"Bargal","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2018.10.013_bib19","doi-asserted-by":"crossref","first-page":"2239","DOI":"10.1093\/hmg\/ddq103","article-title":"Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients","volume":"19","author":"Ali","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2018.10.013_bib20","doi-asserted-by":"crossref","first-page":"2193","DOI":"10.1002\/jbmr.2893","article-title":"Discoidin receptor 2 controls bone formation and marrow adipogenesis","volume":"31","author":"Ge","year":"2016","journal-title":"J.\u00a0Bone Miner. Res."},{"key":"10.1016\/j.ajhg.2018.10.013_bib21","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1002\/path.4311","article-title":"A host deficiency of discoidin domain receptor 2 (DDR2) inhibits both tumour angiogenesis and metastasis","volume":"232","author":"Zhang","year":"2014","journal-title":"J.\u00a0Pathol."},{"key":"10.1016\/j.ajhg.2018.10.013_bib22","doi-asserted-by":"crossref","first-page":"1734","DOI":"10.1038\/mt.2016.109","article-title":"Targeting of discoidin domain receptor 2 (DDR2) prevents myofibroblast activation and neovessel formation during pulmonary fibrosis","volume":"24","author":"Zhao","year":"2016","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ajhg.2018.10.013_bib23","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1007\/s00109-014-1213-7","article-title":"The anti-angiogenic role of discoidin domain receptor 2 (DDR2) in laser-induced choroidal neovascularization","volume":"93","author":"Zhu","year":"2015","journal-title":"J.\u00a0Mol. Med. (Berl.)"},{"key":"10.1016\/j.ajhg.2018.10.013_bib24","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1080\/08820530902801478","article-title":"Limbal stem cell deficiency and corneal neovascularization","volume":"24","author":"Lim","year":"2009","journal-title":"Semin. Ophthalmol."},{"key":"10.1016\/j.ajhg.2018.10.013_bib25","doi-asserted-by":"crossref","DOI":"10.1002\/wdev.303","article-title":"Limbal stem cells: identity, developmental origin, and therapeutic potential","volume":"7","author":"Gonzalez","year":"2018","journal-title":"Wiley Interdiscip. Rev. Dev. Biol."},{"key":"10.1016\/j.ajhg.2018.10.013_bib26","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1093\/embo-reports\/kve094","article-title":"The collagen receptor DDR2 regulates proliferation and its elimination leads to dwarfism","volume":"2","author":"Labrador","year":"2001","journal-title":"EMBO Rep."},{"key":"10.1016\/j.ajhg.2018.10.013_bib27","first-page":"1355","article-title":"Role of discoidin domain receptor 2 in wound healing","volume":"29","author":"M\u00e1rquez","year":"2014","journal-title":"Histol. Histopathol."},{"key":"10.1016\/j.ajhg.2018.10.013_bib28","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1111\/j.1600-0625.2012.01473.x","article-title":"Study of CCN3 (NOV) and DDR1 in normal melanocytes and vitiligo skin","volume":"21","author":"Ricard","year":"2012","journal-title":"Exp. Dermatol."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929718303653?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929718303653?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,8,8]],"date-time":"2019-08-08T09:43:52Z","timestamp":1565257432000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929718303653"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12]]},"references-count":28,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2018,12]]}},"alternative-id":["S0002929718303653"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2018.10.013","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2018,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti 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.2018.10.013","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}