Results 11 to 20 of about 6,796 (211)

Genomic Context and Mechanisms of the ACVR1 Mutation in Fibrodysplasia Ossificans Progressiva [PDF]

Biomedicines, 2021
Basic research in Fibrodysplasia Ossificans Progressiva (FOP) was carried out in the various fields involved in the disease pathophysiology and was important for designing therapeutic approaches, some of which were already developed as ongoing or planned
Roberto Ravazzolo, Renata Bocciardi
doaj   +4 more sources

The Immunoregulatory and Hematopoietic Effects of Momelotinib in a Murine Bone Marrow Failure Model. [PDF]

J Clin Lab Anal
Momelotinib, a selective small‐molecule inhibitor of JAK1/2 and the bone morphogenic protein receptor kinase activin A receptor type I (ACVR1), exerts its effects by inhibiting the overactivation of the BMP/ACVR1/SMAD signaling pathway. This inhibition reduces hepcidin production in hepatocytes, and reduces inflammation, aberrant cytokine signaling ...
Zhang Y, Zhang H, Hu N, Yang L, Liu Y, Yang L, Dong X, Wang H.   +7 more
europepmc   +2 more sources

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

Global gene expression profiling of individual human oocytes and embryos demonstrates heterogeneity in early development [PDF]

, 2013
Early development in humans is characterised by low and variable embryonic viability, reflected in low fecundity and high rates of miscarriage, relative to other mammals.
Brison, Daniel R, Kimber, Susan J, Shaw, Lisa, Sneddon, Sharon F., Zeef, Leo   +4 more
core   +16 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

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

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

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

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

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