Results 11 to 20 of about 7,648 (236)

ACVR1 R206H cooperates with H3.1K27M in promoting diffuse intrinsic pontine glioma pathogenesis [PDF]

Nature Communications, 2019
ACVR1 and H3.1K27M mutations co-occur in diffuse intrinsic pontine glioma. Here, the authors generate a mouse model that recapitulates these genetic lesions and show, using genetic and pharmacological approaches, that the bone morphogenetic protein ...
Christine M. Hoeman, Francisco J. Cordero, Guo Hu, Katie Misuraca, Megan M. Romero, Herminio J. Cardona, Javad Nazarian, Rintaro Hashizume, Roger McLendon, Paul Yu, Daniele Procissi, Samantha Gadd, Oren J. Becher   +12 more
doaj   +4 more sources

ACVR1 Function in Health and Disease [PDF]

Cells, 2019
Activin A receptor type I (ACVR1) encodes for a bone morphogenetic protein type I receptor of the TGFβ receptor superfamily. It is involved in a wide variety of biological processes, including bone, heart, cartilage, nervous, and reproductive system
José Antonio Valer, Cristina Sánchez-de-Diego, Carolina Pimenta-Lopes, Jose Luis Rosa, Francesc Ventura   +4 more
doaj   +4 more sources

ACVR1: A Novel Therapeutic Target to Treat Anemia in Myelofibrosis

Cancers, 2023
Simple Summary The human activin receptor type I (ACVR1) is a complex protein that regulates production of hepcidin on hepatocytes and red blood cells. Hepcidin is a small peptide that regulates iron metabolism and plasma iron levels.
A. Duminuco, H. Chifotides, S. Giallongo, C. Giallongo, D. Tibullo, G. A. Palumbo   +5 more
semanticscholar   +4 more sources

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

Journal of Clinical Investigation, 2021
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.
S. Aykul, Lily Huang, Lili Wang, Nanditha Das, Sandra Reisman, Yonaton Ray, Qian Zhang, Nyanza J. Rothman, Kalyan C. Nannuru, V. Kamat, S. Brydges, L. Troncone, Laura Ø. Johnsen, Paul B. Yu, S. Fazio, John B. Lees-Shepard, K. Schutz, A. Murphy, A. Economides, V. Idone, S. Hatsell   +20 more
semanticscholar   +4 more sources

OR23-06 Sensory neuronal ACVR1-mediated neuroimmune contribution to neuropathic pain and heterotopic ossification in fibrodysplasia ossificans progressiva [PDF]

J Endocr Soc
Disclosure: X. Yu: None. J. Braz: None. L. Lam: None. K. Bhardwaji: None. K. Jin: None. H. Yuan: None. D. Mohsenin: None. E. Yu: None. J. Weinrich: None. B. Ahanonu: None. A. Basbaum: None. E.C. Hsiao: None.
Xiaobing Yu, Joao Braz, Liam Lam, Karnika Bhardwaji, Katherine Jin, Hui Yuan, Darian Mohsenin, Edward Yu, Jarret Weinrich, Biafra O. Ahanonu, Allan Basbaum, Edward C Hsiao   +11 more
europepmc   +2 more sources

Challenges in the diagnosis of fibrodysplasia ossificans progressiva with the ACVR1 mutation (c.774G > C, p.R258S): a case report and review of literature. [PDF]

Orphanet J Rare Dis
The diagnosis of fibrodysplasia ossificans progressiva is missed or delayed because of its insidious precursors, especially in uncharacteristic cases.
Yang S, Cui R, Li J, Dai R.
europepmc   +2 more sources

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

BMP2 and BMP7 cooperate with H3.3K27M to promote quiescence and invasiveness in pediatric diffuse midline gliomas [PDF]

eLife
Pediatric diffuse midline gliomas (pDMG) are an aggressive type of childhood cancer with a fatal outcome. Their major epigenetic determinism has become clear, notably with the identification of K27M mutations in histone H3.
Paul Huchede, Swann Meyer, Clément Berthelot, Maud Hamadou, Adrien Bertrand-Chapel, Andria Rakotomalala, Line Manceau, Julia Tomine, Nicolas Lespinasse, Paul Lewandowski, Martine Cordier-Bussat, Laura Broutier, Aurélie Dutour, Isabelle Rochet, Jean-Yves Blay, Cyril Degletagne, Valéry Attignon, Angel Montero-Carcaboso, Marion Le Grand, Eddy Pasquier, Alexandre Vasiljevic, Pascale Gilardi-Hebenstreit, Samuel Meignan, Pierre Leblond, Vanessa Ribes, Erika Cosset, Marie Castets   +26 more
doaj   +2 more sources

Molecular Developmental Biology of Fibrodysplasia Ossificans Progressiva: Measuring the Giant by Its Toe [PDF]

Biomolecules
When a genetic disease is characterized by the abnormal activation of normal molecular pathways and cellular events, it is illuminating to critically examine the places and times of these activities both in health and disease.
O. Will Towler, Eileen M. Shore, Frederick S. Kaplan   +2 more
doaj   +2 more sources

Dynamics of skeletal muscle-resident stem cells during myogenesis in fibrodysplasia ossificans progressiva

npj Regenerative Medicine, 2022
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease in which extraskeletal (heterotopic) bone forms within tissues such as skeletal muscles, often in response to injury.
Alexandra Stanley, Elisia D. Tichy, Jacob Kocan, Douglas W. Roberts, Eileen M. Shore, Foteini Mourkioti   +5 more
doaj   +1 more source