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ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant.
Haupt J, Deichsel A, Stange K, Ast C, Bocciardi R, Ravazzolo R, Di Rocco M, Ferrari P, Landi A, Kaplan FS, Shore EM, Reissner C, Seemann P. Haupt J, et al. Among authors: ravazzolo r. Hum Mol Genet. 2014 Oct 15;23(20):5364-77. doi: 10.1093/hmg/ddu255. Epub 2014 May 22. Hum Mol Genet. 2014. PMID: 24852373 Free PMC article.
High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva.
Cappato S, Tonachini L, Giacopelli F, Tirone M, Galietta LJ, Sormani M, Giovenzana A, Spinelli AE, Canciani B, Brunelli S, Ravazzolo R, Bocciardi R. Cappato S, et al. Among authors: ravazzolo r. Dis Model Mech. 2016 Jun 1;9(6):685-96. doi: 10.1242/dmm.023929. Epub 2016 Apr 28. Dis Model Mech. 2016. PMID: 27125279 Free PMC article.
Peripheral Blood Mononuclear Cell Immunophenotyping in Fibrodysplasia Ossificans Progressiva Patients: Evidence for Monocyte DNAM1 Up-regulation.
Del Zotto G, Antonini F, Azzari I, Ortolani C, Tripodi G, Giacopelli F, Cappato S, Moretta L, Ravazzolo R, Bocciardi R. Del Zotto G, et al. Among authors: ravazzolo r. Cytometry B Clin Cytom. 2018 Jul;94(4):613-622. doi: 10.1002/cyto.b.21594. Epub 2017 Nov 15. Cytometry B Clin Cytom. 2018. PMID: 28985649 Free article.
232 results