Results 41 to 50 of about 5,020 (198)

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

ACVR1-activating mutation causes neuropathic pain and sensory neuron hyperexcitability in humans

, 2022
Altered bone morphogenetic protein (BMP) signaling is associated with many musculoskeletal diseases. However, it remains unknown whether BMP dysfunction has direct contribution to debilitating pain reported in many of these disorders. Here, we identified
Bigay, Katherine, Hansberry, Steven, Katherine Bigay, Kin Cheung, Tea Chan, Jiadong Chen, Steven Hansberry, Niu, Zejun, Emilie Barruet, Lai, Michael H, Cheung, Kin, Blanca M. Morales, Wentworth, Kelly, Zejun Niu, Morales, Blanca M., Hsiao, Edward C., Morales, Blanca M, Lai, Michael H., Basbaum, Allan, Edward C. Hsiao, Ali, Syed, Chan, Tea, Hongju Liu, Barruet, Emilie, Kriegstein, Arnold, Braz, Joao, Ina Nikolli, Chen, Jiadong, Liu, Hongju, Joao Braz, Hsiao, Edward C, Xiaobing Yu, Nikolli, Ina, Ho, Jennifer, Michael H. Lai, Ton, Amy N, Allan Basbaum, Ton, Amy N., Yu, Xiaobing, Amy N. Ton, Kelly Wentworth, Jennifer Ho, Arnold Kriegstein, Syed Ali   +43 more
core   +1 more source

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

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

Activation of AcvR1-Mediated Signaling Results in Semilunar Valve Defects

Journal of Cardiovascular Development and Disease, 2022
Calcific aortic valve disease (CAVD) is a common cardiac defect, particularly in the aging population. While several risk factors, such as bi-leaflet valve structure and old age, have been identified in CAVD pathogenesis, molecular mechanisms resulting in this condition are still under active investigation.
Shabber Syed, Sudha Rajderkar, Jeffrey M. Mann, Travis Hawkins, Bingrou Wu, Bin Zhou, Yukiko Sugi, Yuji Mishina, Vesa Kaartinen   +8 more
openaire   +3 more sources

An mTOR Signaling Modulator Suppressed Heterotopic Ossification of Fibrodysplasia Ossificans Progressiva

Stem Cell Reports, 2018
Summary: Fibrodysplasia ossificans progressiva (FOP) is a rare and intractable disorder characterized by extraskeletal bone formation through endochondral ossification.
Kyosuke Hino, Chengzhu Zhao, Kazuhiko Horigome, Megumi Nishio, Yasue Okanishi, Sanae Nagata, Shingo Komura, Yasuhiro Yamada, Junya Toguchida, Akira Ohta, Makoto Ikeya   +10 more
doaj   +1 more source

MicroRNA bta-miR-365-3p inhibits proliferation but promotes differentiation of primary bovine myoblasts by targeting the activin A receptor type I

Journal of Animal Science and Biotechnology, 2021
Background MicroRNAs act as post-transcriptional regulators that repress translation or degrade mRNA transcripts. Each microRNA has many mRNA targets and each mRNA may be targeted by several microRNAs.
Dan Hao, Xiaogang Wang, Xiao Wang, Bo Thomsen, Yu Yang, Xianyong Lan, Yongzhen Huang, Hong Chen   +7 more
doaj   +1 more source

Cross-talk among AFAP1-AS1, ACVR1 and microRNA-384 regulates the stemness of pancreatic cancer cells and tumorigenicity in nude mice

Journal of Experimental & Clinical Cancer Research, 2019
Background Pancreatic cancer (PC) represents one of the most aggressive forms of cancer. The role of long non-coding RNAs (lncRNAs) has been highlighted in various malignancies including PC.
Xu-Bo Wu, Xia Feng, Qi-Meng Chang, Cheng-Wu Zhang, Zhi-Fei Wang, Jie Liu, Zhi-Qiu Hu, Jia-Zhe Liu, Wei-Ding Wu, Zi-Ping Zhang, Xi-Qiang Liu   +10 more
doaj   +1 more source