Results 1 to 10 of about 6,796 (211)

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

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   +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   +6 more sources

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

TGF-β uses a novel mode of receptor activation to phosphorylate SMAD1/5 and induce epithelial-to-mesenchymal transition [PDF]

eLife, 2018
The best characterized signaling pathway downstream of transforming growth factor β (TGF-β) is through SMAD2 and SMAD3. However, TGF-β also induces phosphorylation of SMAD1 and SMAD5, but the mechanism of this phosphorylation and its functional relevance
Anassuya Ramachandran, Pedro Vizán, Debipriya Das, Probir Chakravarty, Janis Vogt, Katherine W Rogers, Patrick Müller, Andrew P Hinck, Gopal P Sapkota, Caroline S Hill   +9 more
doaj   +7 more sources

Helicobacter pylori infection induces DNA double-strand breaks through the ACVR1/IRF3/POLD1 signaling axis to drive gastric tumorigenesis [PDF]

Gut Microbes
Helicobacter pylori (H. pylori) infection plays a pivotal role in gastric carcinogenesis through inflammation-related mechanisms. Activin A receptor type I (ACVR1), known for encoding the type I receptor for bone morphogenetic proteins (BMPs), has been ...
Xinbo Xu, Xiao Fei, Huan Wang, Xidong Wu, Yuan Zhan, Xin Li, Yan’an Zhou, Chunxi Shu, Cong He, Yi Hu, Jianping Liu, Nonghua Lv, Nianshuang Li, Yin Zhu   +13 more
doaj   +2 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

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

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

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

Accumulated Knowledge of Activin Receptor-Like Kinase 2 (ALK2)/Activin A Receptor, Type 1 (ACVR1) as a Target for Human Disorders

Biomedicines, 2021
Activin receptor-like kinase 2 (ALK2), also known as Activin A receptor type 1 (ACVR1), is a transmembrane kinase receptor for members of the transforming growth factor-β family.
Takenobu Katagiri, Sho Tsukamoto, Mai Kuratani   +2 more
doaj   +1 more source

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