Zobrazeno 1 - 10
of 1 260
pro vyhledávání: '"acvr1"'
Autor:
Dongdong Liu, Zhen Li, Dongxia Tan, Yang An, Liping Chu, Tiancheng Chen, Weijia Li, Ailin Zhou, Ruijie Xiang, Liye Zhang, Yuxiu Qu, Wei Qi
Publikováno v:
Advanced Science, Vol 11, Iss 12, Pp n/a-n/a (2024)
Abstract EZH2 is the catalytic subunit of the histone methyltransferase Polycomb Repressive Complex 2 (PRC2), and its somatic activating mutations drive lymphoma, particularly the germinal center B‐cell type. Although PRC2 inhibitors, such as tazem
Externí odkaz:
https://doaj.org/article/bb058e130a3d49ab935a94c8293a8e2d
Publikováno v:
Biomolecules, Vol 14, Iss 8, p 1009 (2024)
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. Therefore, because hete
Externí odkaz:
https://doaj.org/article/01c02d04481f45f88ddfe72c06ac20a0
Publikováno v:
Journal of Orthopaedic Reports, Vol 2, Iss 4, Pp 100193- (2023)
Background: Fibrodysplasia ossificans progressiva is a rare autosomal dominant connective tissue disorder with a prevalence of 2 per million individuals. Activating mutation of ACVR1, a bone morphogenetic protein receptor causes ossification of extra
Externí odkaz:
https://doaj.org/article/070d0f2502c0491a9e66caba42d6be9c
Publikováno v:
Biomedicines, Vol 12, Iss 4, p 779 (2024)
Fibrodysplasia ossificans progressiva (FOP) is a debilitating genetic disorder characterized by recurrent episodes of heterotopic ossification (HO) formation in muscles, tendons, and ligaments. FOP is caused by a missense mutation in the ACVR1 gene (
Externí odkaz:
https://doaj.org/article/4dcf586db7334c53b1d8132e8f5cf964
Autor:
Ingrid Quist-Løkken, Clara Andersson-Rusch, Martin Haugrud Kastnes, Jürgen Markus Kolos, Jerome Jatzlau, Hanne Hella, Oddrun Elise Olsen, Anders Sundan, Petra Knaus, Felix Hausch, Toril Holien
Publikováno v:
Cell Communication and Signaling, Vol 21, Iss 1, Pp 1-16 (2023)
Abstract Background The immunophilin FKBP12 binds to TGF-β family type I receptors, including the BMP type I receptor ALK2. FKBP12 keeps the type I receptor in an inactive state and controls signaling activity. Removal of FKBP12 with drugs such as t
Externí odkaz:
https://doaj.org/article/1d7144747e7f4e01a14dd611f82ff44b
Autor:
Marcela Elizabeth Orozco Orozco, Anna Yurrita Pocasangre, María Antonieta Sandoval Vargas, Julio Rafael Cabrera Valverde
Publikováno v:
Revista de la Facultad de Medicina, Vol 1, Iss 34 (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
Externí odkaz:
https://doaj.org/article/82af2275670f4670ac3354c787bec166
Autor:
Lorraine N. Burdick, Amanda H. DelVichio, L. Russell Hanson, Brenden B. Griffith, Keith R. Bouchard, Jeffrey W. Hunter, David J. Goldhamer
Publikováno v:
Biomolecules, Vol 14, Iss 2, p 177 (2024)
Heterotopic ossification (HO) is most dramatically manifested in the rare and severely debilitating disease, fibrodysplasia ossificans progressiva (FOP), in which heterotopic bone progressively accumulates in skeletal muscles and associated soft tiss
Externí odkaz:
https://doaj.org/article/0323a404739f4c11b0368c825cba807f
Autor:
Dushyanth Srinivasan, Martin Arostegui, Erich J. Goebel, Kaitlin N. Hart, Senem Aykul, John B. Lees-Shepard, Vincent Idone, Sarah J. Hatsell, Aris N. Economides
Publikováno v:
Biomolecules, Vol 14, Iss 1, p 101 (2024)
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by episodic yet cumulative heterotopic ossification (HO) of skeletal muscles, tendons, ligaments, and fascia. FOP arises from missense mutations in Activin Receptor
Externí odkaz:
https://doaj.org/article/6a6e2232b14c493f961ed09f4a9f494e
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