Results 21 to 30 of about 7,648 (236)

AAV-Mediated Targeting of the Activin A-ACVR1^R206H Signaling in Fibrodysplasia Ossificans Progressiva

Biomolecules, 2023
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder characterized by progressive disabling heterotopic ossification (HO) at extra-skeletal sites. Here, we developed adeno-associated virus (AAV)-based gene therapy that suppresses
Yeon-Suk Yang, Chujiao Lin, Hong Ma, Jun Xie, Frederick S. Kaplan, Guangping Gao, Jae-Hyuck Shim   +6 more
doaj   +1 more source

Neofunction of ACVR1 in fibrodysplasia ossificans progressiva [PDF]

Proceedings of the National Academy of Sciences, 2015
SignificanceBy utilizing patient-specific induced pluripotent stem cells (iPSCs) of fibrodysplasia ossificans progressiva (FOP) and gene-corrected (rescued) FOP-iPSCs, we discovered a novel mechanism in ectopic bone formation: The disease-causing mutation endows ACVR1 with the ability to transmit the signal of an unexpected ligand, Activin-A.
Kyosuke, Hino, Makoto, Ikeya, Kazuhiko, Horigome, Yoshihisa, Matsumoto, Hayao, Ebise, Megumi, Nishio, Kazuya, Sekiguchi, Mitsuaki, Shibata, Sanae, Nagata, Shuichi, Matsuda, Junya, Toguchida   +10 more
openaire   +2 more sources

The role of the 3'UTR region in the regulation of the ACVR1/Alk-2 gene expression. [PDF]

PLoS ONE, 2012
BACKGROUND: The ACVR1/Alk-2 gene, encoding a BMP type I receptor, is mutated in Fibrodysplasia Ossificans Progressiva, a severe form of heterotopic ossification. Regulation of ACVR1/Alk-2 expression, still poorly understood, is likely to be controlled by
Marzia Mura, Serena Cappato, Francesca Giacopelli, Roberto Ravazzolo, Renata Bocciardi   +4 more
doaj   +1 more source

Variable signaling activity by FOP ACVR1 mutations [PDF]

Bone, 2018
Most patients with fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder of heterotopic ossification, have the same causative mutation in ACVR1, R206H. However, additional mutations within the ACVR1 BMP type I receptor have been identified in a small number of FOP cases, often in patients with disease of lesser or greater severity than ...
Julia, Haupt, Meiqi, Xu, Eileen M, Shore
openaire   +2 more sources

Clinical, radiologic, pathologic, and molecular characteristics of long-term survivors of diffuse intrinsic pontine glioma (DIPG): a collaborative report from the International and European Society for Pediatric Oncology DIPG registries [PDF]

, 2018
Purpose Diffuse intrinsic pontine glioma (DIPG) is a brainstem malignancy with a median survival of < 1 year. The International and European Society for Pediatric Oncology DIPG Registries collaborated to compare clinical, radiologic, and ...
Antonelli, Manila, Antonelli, Manila, Bailey, Simon, Bartels, Ute, Baugh, Joshua, Benesch, Martin, Biassoni, Veronica, Bison, Brigitte, Boddaert, Nathalie, Bouffet, Eric, Broniscer, Alberto, Broxson, Emmett, Calmon, Raphael, Castel, David, Chaney, Brooklyn, Chintagumpala, Murali, Colditz, Niclas, Comito, Melanie, Dholaria, Hetal, Doughman, Renee, Drissi, Rachid, Foreman, Nicholas K., Fouladi, Maryam, Fuller, Christine, Gerber, Nicolas U., Giagnacovo, Marzia, Gielen, Gerrit H., Giraud, G´eraldine, Goldman, Stewart, Gottardo, Nicholas, Grill, Jacques, Grotzer, Michael A., Hargrave, Darren, Hassall, Timothy, Hawkins, Cynthia, Hoffman, Lindsey M., Hoffmann, Marion, Hulleman, Esther, Jabado, Nada, Jadrijevic Cvrlje, Filip, Jones, Blaise, Jones, Chris, Jones, David T. W., Kaspers, Gertjan J. L., Khatua, Soumen, Kieran, Mark W., Kramm, Christof M., Lane, Adam, Leach, James, Leary, Sarah, Massimino, Maura, Miles, Lili, Minturn, Jane, Modena, Piergiorgio, Nazarian, Javad, Packer, Roger, Pfaff, Elke, Pfister, Stefan M., Pietsch, Torsten, Puget, Stephanie, Sanchez, Esther, Shih, Chie-Schin, Solanki, Guirish A., Sophie Carret, Anne, Sturm, Dominik, van Vuurden, Dannis G., Vandertop, William P., Varlet, Pascale, Veldhuijzen van Zanten, Sophie E. M., von Bueren, Andr´e O., Warmuth-Metz, Monika, Warren, Katherine E., Yanez Escorza, Nancy, Ziegler, David S.   +73 more
core   +7 more sources

ACVR1 (activin A receptor, type I) [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2013
Review on ACVR1 (activin A receptor, type I), with data on DNA, on the protein encoded, and where the gene is implicated.
Rainho, CA, Rogatto, SR
openaire   +2 more sources

Anti-ACVR1 antibodies exacerbate heterotopic ossification in fibrodysplasia ossificans progressiva (FOP) by activating FOP-mutant ACVR1

The Journal of Clinical Investigation, 2022
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder whose most debilitating pathology is progressive and cumulative heterotopic ossification (HO) of skeletal muscles, ligaments, tendons, and fascia.
Senem Aykul, Lily Huang, Lili Wang, Nanditha M. Das, Sandra Reisman, Yonaton Ray, Qian Zhang, Nyanza Rothman, Kalyan C. Nannuru, Vishal Kamat, Susannah Brydges, Luca Troncone, Laura Johnsen, Paul B. Yu, Sergio Fazio, John Lees-Shepard, Kevin Schutz, Andrew J. Murphy, Aris N. Economides, Vincent Idone, Sarah J. Hatsell   +20 more
doaj   +1 more source

Fibrodysplasia ossificans progressiva mutant ACVR1 signals by multiple modalities in the developing zebrafish

eLife, 2020
Fibrodysplasia ossificans progressiva (FOP) is a rare human genetic disorder characterized by altered skeletal development and extraskeletal ossification.
Robyn S Allen, Benjamin Tajer, Eileen M Shore, Mary C Mullins   +3 more
doaj   +1 more source

Momelotinib (JAK1/JAK2/ACVR1 inhibitor): mechanism of action, clinical trial reports, and therapeutic prospects beyond myelofibrosis

Haematologica, 2023
Janus kinase (JAK) 2 inhibitors are now part of the therapeutic armamentarium for primary and secondary myelofibrosis (MF). Patients with MF endure shortened survival and poor quality of life.
A. Tefferi, A. Pardanani, N. Gangat
semanticscholar   +1 more source

ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant [PDF]

Human Molecular Genetics, 2014
Fibrodysplasia ossificans progressiva (FOP) is a disabling genetic disorder of progressive heterotopic ossification (HO). Here, we report a patient with an ultra-rare point mutation [c.619C>G, p.Q207E] located in a codon adjacent to the most common FOP mutation [c.617G>A, p.R206H] of Activin A Receptor, type 1 (ACVR1) and that affects the same ...
J. Haupt, A. Deichsel, K. Stange, C. Ast, BOCCIARDI, RENATA, RAVAZZOLO, ROBERTO, M. Di Rocco, P. Ferrari, A. Landi, F. S. Kaplan, E. M. Shore, C. Reissner, P. Seemann   +12 more
openaire   +2 more sources