{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T12:59:18Z","timestamp":1780750758871,"version":"3.54.1"},"publisher-location":"New York, NY","reference-count":14,"publisher":"Springer US","isbn-type":[{"value":"9781071647295","type":"print"},{"value":"9781071647301","type":"electronic"}],"license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025]]},"DOI":"10.1007\/978-1-0716-4730-1_31","type":"book-chapter","created":{"date-parts":[[2025,7,28]],"date-time":"2025-07-28T12:59:10Z","timestamp":1753707550000},"page":"465-470","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Morpholino-Mediated Exon Skipping Targeting Human ACVR1\/ALK2 for Fibrodysplasia Ossificans Progressiva"],"prefix":"10.1007","author":[{"given":"Rika","family":"Maruyama","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshifumi","family":"Yokota","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,7,29]]},"reference":[{"key":"31_CR1","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1186\/1750-1172-6-80","volume":"6","author":"RJ Pignolo","year":"2011","unstructured":"Pignolo RJ, Shore EM, Kaplan FS (2011) Fibrodysplasia ossificans progressiva: clinical and genetic aspects. Orphanet J Rare Dis 6:80. https:\/\/doi.org\/10.1186\/1750-1172-6-80","journal-title":"Orphanet J Rare Dis"},{"issue":"9","key":"31_CR2","doi-asserted-by":"publisher","first-page":"1666","DOI":"10.1002\/jbmr.2820","volume":"31","author":"SA Chakkalakal","year":"2016","unstructured":"Chakkalakal SA, Uchibe K, Convente MR et al (2016) Palovarotene inhibits heterotopic ossification and maintains limb mobility and growth in mice with the human ACVR1(R206H) Fibrodysplasia Ossificans Progressiva (FOP) mutation. J Bone Miner Res 31(9):1666\u20131675. https:\/\/doi.org\/10.1002\/jbmr.2820","journal-title":"J Bone Miner Res"},{"issue":"9","key":"31_CR3","doi-asserted-by":"publisher","first-page":"3339","DOI":"10.1172\/JCI93521","volume":"127","author":"K Hino","year":"2017","unstructured":"Hino K, Horigome K, Nishio M et al (2017) Activin-a enhances mTOR signaling to promote aberrant chondrogenesis in fibrodysplasia ossificans progressiva. J Clin Invest 127(9):3339\u20133352. https:\/\/doi.org\/10.1172\/JCI93521","journal-title":"J Clin Invest"},{"issue":"5","key":"31_CR4","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1038\/ng1783","volume":"38","author":"EM Shore","year":"2006","unstructured":"Shore EM, Xu M, Feldman GJ et al (2006) A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet 38(5):525\u2013527. https:\/\/doi.org\/10.1038\/ng1783","journal-title":"Nat Genet"},{"issue":"3","key":"31_CR5","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1002\/humu.20868","volume":"30","author":"FS Kaplan","year":"2009","unstructured":"Kaplan FS, Xu M, Seemann P et al (2009) Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Hum Mutat 30(3):379\u2013390. https:\/\/doi.org\/10.1002\/humu.20868","journal-title":"Hum Mutat"},{"issue":"303","key":"31_CR6","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.aac4358","volume":"7","author":"SJ Hatsell","year":"2015","unstructured":"Hatsell SJ, Idone V, Wolken DM et al (2015) ACVR1R206H receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin a. Sci Transl Med 7(303):303ra137. https:\/\/doi.org\/10.1126\/scitranslmed.aac4358","journal-title":"Sci Transl Med"},{"issue":"50","key":"31_CR7","doi-asserted-by":"publisher","first-page":"15438","DOI":"10.1073\/pnas.1510540112","volume":"112","author":"K Hino","year":"2015","unstructured":"Hino K, Ikeya M, Horigome K et al (2015) Neofunction of ACVR1 in fibrodysplasia ossificans progressiva. Proc Natl Acad Sci USA 112(50):15438\u201315443. https:\/\/doi.org\/10.1073\/pnas.1510540112","journal-title":"Proc Natl Acad Sci USA"},{"issue":"366","key":"31_CR8","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.aaf1090","volume":"8","author":"D Dey","year":"2016","unstructured":"Dey D, Bagarova J, Hatsell SJ et al (2016) Two tissue-resident progenitor lineages drive distinct phenotypes of heterotopic ossification. Sci Transl Med 8(366):366ra163. https:\/\/doi.org\/10.1126\/scitranslmed.aaf1090","journal-title":"Sci Transl Med"},{"issue":"5","key":"31_CR9","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1038\/ng.2936","volume":"46","author":"P Buczkowicz","year":"2014","unstructured":"Buczkowicz P, Hoeman C, Rakopoulos P et al (2014) Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations. Nat Genet 46(5):451\u2013456. https:\/\/doi.org\/10.1038\/ng.2936","journal-title":"Nat Genet"},{"issue":"5","key":"31_CR10","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1038\/ng.2925","volume":"46","author":"KR Taylor","year":"2014","unstructured":"Taylor KR, Mackay A, Truffaux N et al (2014) Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma. Nat Genet 46(5):457\u2013461. https:\/\/doi.org\/10.1038\/ng.2925","journal-title":"Nat Genet"},{"issue":"5","key":"31_CR11","doi-asserted-by":"publisher","first-page":"444","DOI":"10.1038\/ng.2938","volume":"46","author":"G Wu","year":"2014","unstructured":"Wu G, Diaz AK, Paugh BS et al (2014) The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma. Nat Genet 46(5):444\u2013450. https:\/\/doi.org\/10.1038\/ng.2938","journal-title":"Nat Genet"},{"key":"31_CR12","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1007\/978-4-431-55678-7_6","volume-title":"Translational research in muscular dystrophy","author":"J Lee","year":"2016","unstructured":"Lee J, Yokota T (2016) Translational research in nucleic acid therapies for muscular dystrophies. In: Takeda S, Miyagoe-Suzuki Y, Mori-Yoshimura M (eds) Translational research in muscular dystrophy. Springer Japan, Tokyo, pp 87\u2013102. https:\/\/doi.org\/10.1007\/978-4-431-55678-7_6"},{"key":"31_CR13","doi-asserted-by":"publisher","first-page":"533","DOI":"10.2147\/DDDT.S97635","volume":"11","author":"KR Lim","year":"2017","unstructured":"Lim KR, Maruyama R, Yokota T (2017) Eteplirsen in the treatment of Duchenne muscular dystrophy. Drug Des Devel Ther 11:533\u2013545. https:\/\/doi.org\/10.2147\/DDDT.S97635","journal-title":"Drug Des Devel Ther"},{"issue":"7","key":"31_CR14","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0069096","volume":"8","author":"S Shi","year":"2013","unstructured":"Shi S, Cai J, de Gorter DJ et al (2013) Antisense-oligonucleotide mediated exon skipping in activin-receptor-like kinase 2: inhibiting the receptor that is overactive in fibrodysplasia ossificans progressiva. PLoS One 8(7):e69096. https:\/\/doi.org\/10.1371\/journal.pone.0069096","journal-title":"PLoS One"}],"container-title":["Methods in Molecular Biology","Exon Skipping and Inclusion Therapies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/978-1-0716-4730-1_31","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T12:09:00Z","timestamp":1780747740000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/978-1-0716-4730-1_31"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025]]},"ISBN":["9781071647295","9781071647301"],"references-count":14,"URL":"https:\/\/doi.org\/10.1007\/978-1-0716-4730-1_31","relation":{},"ISSN":["1064-3745","1940-6029"],"issn-type":[{"value":"1064-3745","type":"print"},{"value":"1940-6029","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025]]},"assertion":[{"value":"29 July 2025","order":1,"name":"first_online","label":"First Online","group":{"name":"ChapterHistory","label":"Chapter History"}}]}}