Results 21 to 30 of about 4,120 (178)

Influence on proliferation and apoptosis of intestinal epithelial cells and expression of ACVR1 by Helicobacter pylori

European Journal of Inflammation, 2021
To discuss the influence on proliferation and apoptosis of human intestinal epithelial cells by Helicobacter pylori (Hp). CCK-8 method and flow cytometry to test the influence on proliferation and apoptosis of intestinal epithelial cells by Hp and cell ...
Yunfeng Lin, Min Chen, Shuyu Zhang, Zhichun Feng, Jingwen Wang   +4 more
doaj   +1 more source

Generation of an induced pluripotent stem cell line (TRNDi012-B) from Fibrodysplasia Ossificans Progressiva (FOP) patient carrying a heterozygous mutation c. 617G > A in the ACVR1 gene

Stem Cell Research, 2021
Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of progressive ossification of skeletal muscle, fascia, tendons, and ligaments. Most FOP cases are caused by a heterozygous c.
Xiuli Huang, Amanda Roeder, Rong Li, Jeanette Beers, Chengyu Liu, Jizhong Zou, Paul B. Yu, Wei Zheng   +7 more
doaj   +1 more source

An anti-ACVR1 antibody exacerbates heterotopic ossification by fibro-adipogenic progenitors in fibrodysplasia ossificans progressiva mice

The Journal of Clinical Investigation, 2022
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized by progressive and catastrophic heterotopic ossification (HO) of skeletal muscle and associated soft tissues.
John B. Lees-Shepard, Sean J. Stoessel, Julian T. Chandler, Keith Bouchard, Patricia Bento, Lorraine N. Apuzzo, Parvathi M. Devarakonda, Jeffrey W. Hunter, David J. Goldhamer   +8 more
doaj   +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

Fibrodysplasia ossificans progressiva in a 3-year-old female patient

Boletín Médico del Hospital Infantil de México, 2023
Background: Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disease affecting connective tissue, primarily caused by de novo mutations of the ACVR1 gene.
Cecilia Moreira, Gabriel Dapueto, Gabriel Peluffo, Alejandra Vomero, Alejandra Tapié, Soledad Rodríguez, Victor Raggio, Rodrigo Suárez, Gustavo Giachetto, Loreley García   +9 more
doaj   +1 more source

Rapid Progression of Heterotopic Ossification in Severe Variant of Fibrodysplasia Ossificans Progressiva with p.Arg258Gly in ACVR1: A Case Report and Review of Clinical Phenotypes

Case Reports in Genetics, 2022
Fibrodysplasia ossificans progressiva (FOP) is a rare skeletal disorder characterized by congenital malformation of the great toes and progressive heterotopic ossification.
Kosei Hasegawa, Hiroyuki Tanaka, Natsuko Futagawa, Hiroyuki Miyahara, Hirokazu Tsukahara   +4 more
doaj   +1 more source

Fibrodisplasia Osificante Progresiva: Reporte de Primer Caso Guatemalteco

Revista de la Facultad de Medicina, 2023
La Fibrodisplasia Osificante Progresiva (FOP) es una enfermedad rara, compleja, de herencia autosómica dominante, causada por una mutación heterocigota del gen ACVR1 en el cromosoma 2q24 (OMIM 135100), con una prevalencia de 1 en 2 millones en todo el ...
Marcela Elizabeth Orozco Orozco, Anna Yurrita Pocasangre, María Antonieta Sandoval Vargas, Julio Rafael Cabrera Valverde   +3 more
doaj   +1 more source

High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva

Disease Models & Mechanisms, 2016
The ACVR1 gene encodes a type I receptor of bone morphogenetic proteins (BMPs). Activating mutations in ACVR1 are responsible for fibrodysplasia ossificans progressiva (FOP), a rare disease characterized by congenital toe malformation and progressive ...
Serena Cappato, Laura Tonachini, Francesca Giacopelli, Mario Tirone, Luis J. V. Galietta, Martina Sormani, Anna Giovenzana, Antonello E. Spinelli, Barbara Canciani, Silvia Brunelli, Roberto Ravazzolo, Renata Bocciardi   +11 more
doaj   +1 more source

Neuronal ACVR1-mediated H3K18 lactylation drives NLRP3 pyroptosis to sustain neuropathic pain via metabolic-epigenetic coupling

Neurobiology of Disease
Objective: We investigated whether neuronal activin A receptor type 1 (ACVR1) drives glycolytic lactate production to fuel histone H3K18 lactylation (H3K18la), thereby activating NLRP3-dependent neuronal pyroptosis and sustaining pain, while assessing ...
Xiaowei Zhao, Xiaoxu Zhang, Yaqian Li, Chunmeng Fu, Li Yuan, Ting Cong, Zejun Niu   +6 more
doaj   +1 more source

The tumor suppressor gene Trp53 protects the mouse lens against posterior subcapsular cataracts and the BMP receptor Acvr1 acts as a tumor suppressor in the lens

Disease Models & Mechanisms, 2011
SUMMARY We previously found that lenses lacking the Acvr1 gene, which encodes a bone morphogenetic protein (BMP) receptor, had abnormal proliferation and cell death in epithelial and cortical fiber cells.
Luke A. Wiley, Ramya Rajagopal, Lisa K. Dattilo, David C. Beebe   +3 more
doaj   +1 more source