Results 21 to 30 of about 5,020 (198)

Activin-dependent signaling in fibro/adipogenic progenitors causes fibrodysplasia ossificans progressiva

Nature Communications, 2018
Fibrodysplasia ossificans progressiva is a severe disorder characterized by heterotopic ossification, and is caused by mutations in ACVR1. Here, the authors show that expression of mutant ACVR1 in fibro/adipogenic progenitors recapitulates disease ...
John B. Lees-Shepard, Masakazu Yamamoto, Arpita A. Biswas, Sean J. Stoessel, Sarah-Anne E. Nicholas, Cathy A. Cogswell, Parvathi M. Devarakonda, Michael J. Schneider, Samantha M. Cummins, Nicholas P. Legendre, Shoko Yamamoto, Vesa Kaartinen, Jeffrey W. Hunter, David J. Goldhamer   +13 more
doaj   +2 more sources

Update On Fragment Screening Of Acvr1 Co_Crystallised With Ldn_193189

, 2018
The SGC is a registered charity (number 1097737) that receives funds from AbbVie, Bayer Pharma AG, Boehringer Ingelheim, Canada Foundation for Innovation, Eshelman Institute for Innovation, Genome Canada, Innovative Medicines Initiative (EU/EFPIA) [ULTRA-DD grant no.
Adamson, Roslin, Matteucci, Mizio, Brennan, Paul, Bullock, Alex   +3 more
openaire   +3 more sources

Purification Of Acvr1 For Co_Crystallisation With Ldn_193189 And Other Compounds

, 2018
Purification protocol for ACVR1 and crystallisation with different compounds.
Adamson, Roslin, Matteucci, Mizio, Brennan, Paul, Bullock, Alex   +3 more
openaire   +3 more sources

Therapeutic targeting of PRMT5 and mutant ACVR1 in paediatric glioma [PDF]

, 2021
Diffuse Intrinsic Pontine Glioma (DIPG) is a universally fatal paediatric brainstem tumour with a median overall survival of 9-11 months. The unique genetic, anatomical and developmental identity of the tumour means that there are currently no effective chemotherapies or targeted therapies.
openaire   +2 more sources

Purification of ACVR1 for fine screening with M4K compounds_Nov_2018

, 2018
The SGC is a registered charity (number 1097737) that receives funds from AbbVie, Bayer Pharma AG, Boehringer Ingelheim, Canada Foundation for Innovation, Eshelman Institute for Innovation, Genome Canada, Innovative Medicines Initiative (EU/EFPIA) [ULTRA-DD grant no.
Adamson, Roslin, Brennan, Paul, Mateucci, Mizio, Bullock, Alex   +3 more
openaire   +3 more sources

Generalized Epileptic Seizures in Fibrodysplasia Ossificans Progressiva Harboring a Recurrent Heterozygous Variant of the ACVR1 Gene (R206H)

Case Reports in Genetics
Conclusion: This case expands our understanding of the phenotypic diversity of FOP and the functional versatility of ACVR1-mediated bone morphogenetic protein (BMP) signaling.
Kenichi Mishima, Hiroshi Kitoh, Anna Shiraki, Kenta Sawamura, Yasunari Kamiya, Masaki Matsushita, Shiro Imagama   +6 more
doaj   +2 more sources

Neofunction of ACVR1 in fibrodysplasia ossificans progressiva [PDF]

Proceedings of the National Academy of Sciences, 2015
Significance By 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 ...
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

Wt1 Is Required for the Regression of Müllerian Ducts in Male Mice by Inducing Wif1 and Osx Expression. [PDF]

Cell Prolif
Wt1 expressed in the MD mesenchyme promotes MD regression by inducing Wif1 and Osx transcription. In male mice, mesenchyme‐specific inactivation of Wt1 results in MD retention. ABSTRACT In mammals, Müllerian ducts (MDs) are the precursors of the female reproductive tract which regress in males during embryonic development.
Chen M, Qi X, Qin S, Kang J, Cen C, Guo M, Gao Y, Wang M, Li J, Cui X, Wang Y, Zhu L, Gao F.   +12 more
europepmc   +2 more sources

Repurposing Vandetanib plus Everolimus for the Treatment of ACVR1-Mutant Diffuse Intrinsic Pontine Glioma. [PDF]

, 2021
Somatic mutations in ACVR1 are found in a quarter of children with diffuse intrinsic pontine glioma (DIPG), but there are no ACVR1 inhibitors licensed for the disease.
Merve, A, Mackinnon, A, Zebian, Bassel, Carvalho, Diana, Raynaud, Florence, Ruddle, R, Pal, Akos, Grill, J, Molinari, Valeria, Cruz, O, Al-Sarraj, Safa, Olaciregui, Nagore, Smith, Daniel, Olaciregui, N, Overington, JP, Lavarino, C, Sheppard, D, Molinari, V, Phelan, Anne, Grill, Jacques, Carcaboso, AM, Phelan, A, Merve, Ashirwad, Sheppard, David, Carvalho, DM, Al-Sarraj, S, Mueller, S, Hubank, Michael, Mackay, Alan, Pryce, Jeremy, Jones, C, Morales La Madrid, Andres, Overington, John, Hubank, M, Corley, Elizabeth, Cruz, Ofelia, Mackinnon, Andrew, Richardson, Peter, Jones, Chris, Ruddle, Ruth, Zebian, B, Carceller, Fernando, Richardson, PJ, Lavarino, Cinzia, Temelso, Sara, Morales La Madrid, A, Carcaboso, Angel, Smith, DP, Donovan, A, Stankunaite, R, Temelso, S, Stankunaite, Reda, Corley, EA, Donovan, Adam, Raynaud, FI, Mackay, A, Carceller, F, Mueller, Sabine, Pryce, J, Pal, A, Florence I. Raynaud, Michael Hubank, Bassel Zebian, Jacques Grill, Anne Phelan, Fernando Carceller, Reda Stankunaite, Sara Temelso, Jeremy Pryce, Ruth Ruddle, Cinzia Lavarino, David Sheppard, Daniel P. Smith, Akos Pal, Diana M. Carvalho, Valeria Molinari, Elizabeth A. Corley, Alan Mackay, Safa Al-Sarraj, Angel M. Carcaboso, Adam Donovan, Sabine Mueller, Peter J. Richardson, Ofelia Cruz, Nagore Olaciregui, John P. Overington, Ashirwad Merve, Chris Jones, Andrew Mackinnon, Andres Morales La Madrid   +89 more
core   +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