{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T15:57:13Z","timestamp":1791043033685,"version":"4.1.0"},"reference-count":19,"publisher":"Public Library of Science (PLoS)","issue":"3","license":[{"start":{"date-parts":[[2009,3,30]],"date-time":"2009-03-30T00:00:00Z","timestamp":1238371200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0005005","type":"journal-article","created":{"date-parts":[[2009,3,30]],"date-time":"2009-03-30T14:59:48Z","timestamp":1238425188000},"page":"e5005","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":81,"title":["Novel Mutations in ACVR1 Result in Atypical Features in Two Fibrodysplasia Ossificans Progressiva Patients"],"prefix":"10.1371","volume":"4","author":[{"given":"Kirsten A.","family":"Petrie","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen Hwa","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex N.","family":"Bullock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny J.","family":"Pointon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. Graham G.","family":"Russell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew A.","family":"Brown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B. Paul","family":"Wordsworth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James T.","family":"Triffitt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2009,3,30]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1385\/BMM:3:3-4:201","article-title":"The genetics of fibrodysplasia ossificans progressiva.","volume":"3","author":"EM Shore","year":"2005","journal-title":"Clin Rev Bone Miner Metab"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1259\/0007-1285-55-655-492","article-title":"The cervical spine in fibrodysplasia ossificans progressiva.","volume":"55","author":"JM Connor","year":"1982","journal-title":"Br J Radiol"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1016\/S0960-8966(97)87158-1","article-title":"49th ENMC-Sponsored International Workshop: fibrodysplasia (myositis) ossificans progressiva (FOP). 14\u201316 February 1997, Naarden, The Netherlands.","volume":"7","author":"R Smith","year":"1997","journal-title":"Neuromuscul Disord"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1385\/BMM:3:3-4:205","article-title":"Three pairs of monozygotic twins with fibrodysplasia ossificans progressiva: the role of environment in the progression of heterotopic ossification.","volume":"3","author":"N Hebela","year":"2005","journal-title":"Clin Rev Bone Miner Metab"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1038\/ng1783","article-title":"A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.","volume":"38","author":"EM Shore","year":"2006","journal-title":"Nat Genet"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1007\/s10038-006-0069-2","article-title":"De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva.","volume":"51","author":"GT Lin","year":"2006","journal-title":"J Hum Genet"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1007\/s10038-007-0128-3","article-title":"The ACVR1 617G&gt;A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva.","volume":"52","author":"M Nakajima","year":"2007","journal-title":"J Hum Genet"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1126\/science.7518616","article-title":"Specific interaction of type I receptors of the TGF-beta family with the immunophilin FKBP-12.","volume":"265","author":"T Wang","year":"1994","journal-title":"Science"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1016\/S0092-8674(00)80555-3","article-title":"Crystal structure of the cytoplasmic domain of the type I TGF beta receptor in complex with FKBP12.","volume":"96","author":"M Huse","year":"1999","journal-title":"Cell"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1016\/S1097-2765(01)00332-X","article-title":"The TGF beta receptor activation process: an inhibitor- to substrate-binding switch.","volume":"8","author":"M Huse","year":"2001","journal-title":"Mol Cell"},{"key":"ref11","article-title":"Constitutively activated ALK2 and increased smad1\/5 cooperatively induce BMP signaling in fibrodysplasia ossificans progressiva.","author":"T Fukuda","year":"2008","journal-title":"J Biol Chem"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1097\/BLO.0b013e318126c049","article-title":"Functional modeling of the ACVR1 (R206H) mutation in FOP.","volume":"462","author":"JC Groppe","year":"2007","journal-title":"Clin Orthop Relat Res"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1002\/ajmg.a.32151","article-title":"A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H).","volume":"146A","author":"H Furuya","year":"2008","journal-title":"Am J Med Genet A"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1038\/ejhg.2008.178","article-title":"Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements.","volume":"17","author":"R Bocciardi","year":"2009","journal-title":"Eur J Hum Genet"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1302\/0301-620X.58B1.818090","article-title":"Myositis ossificans progressiva. Clinical features of eight patients and their response to treatment.","volume":"58","author":"R Smith","year":"1976","journal-title":"J Bone Joint Surg Br"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1302\/0301-620X.64B1.7068725","article-title":"Fibrodysplasia ossificans progressiva. The clinical features and natural history of 34 patients.","volume":"64","author":"JM Connor","year":"1982","journal-title":"J Bone Joint Surg Br"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1002\/jcc.540150503","article-title":"Icm: A New method for Protein Modeling and Design: Applications to Docking and Structure Prediction from the Distorted Native Conformation.","volume":"15","author":"RA Abagyan","year":"1994","journal-title":"J Comp Chem"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"1363","DOI":"10.1038\/nm.1888","article-title":"BMP type I receptor inhibition reduces heterotopic ossification.","volume":"14","author":"PB Yu","year":"2008","journal-title":"Nat Med"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1038\/nchembio.2007.54","article-title":"Dorsomorphin inhibits BMP signals required for embryogenesis and iron metabolism.","volume":"4","author":"PB Yu","year":"2008","journal-title":"Nat Chem Biol"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0005005","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,8]],"date-time":"2020-05-08T19:10:57Z","timestamp":1588965057000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0005005"}},"subtitle":[],"editor":[{"given":"David C.","family":"Rubinsztein","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2009,3,30]]},"references-count":19,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2009,3,30]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0005005","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,3,30]]}}}