ACVR1

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ACVR1

A gene on chromosome 2q23-q24 that encodes activin receptor type I, a receptor that forms a complex with other type-I and two type-II transmembrane serine/threonine kinase receptors for activin, a dimeric growth and differentiating factor belonging to the TGF-beta superfamily of structurally related signalling proteins. Type-II receptors phosphorylate and activate type-I receptors, which autophosphorylate, then bind and activate SMAD transcriptional regulators, playing roles in cell differentiation, growth arrest and apoptosis. 

Molecular pathology
ACVR1 mutations are linked to fibrodysplasia ossificans progressive.
References in periodicals archive ?
Food and Drug Administration (FDA) and orphan designations for the treatment of FOP from both the FDA and the European Medicines Agency (EMA).
Other than the format manipulations, the FOP and NFP on the back of the package were invariant across the package conditions.
Non-users, although open to the idea of a FOP system to identify healthier foods, did not expect their purchasing behaviour to change as they tend to make purchase decisions based on taste and preference rather than nutritional content, regardless of the presentation of nutrition information on the label.
com/team/climbingforacure Stone man syndrome FOP (fibrodysplasia ossificans progressiva) is some-times called stone man syndrome and is a genetic mutation of the body's repair mechanism.
Blood was obtained for molecular genetic analysis from the 6 FOP patients and 6 ethnic-matched controls after obtaining informed consent in accordance with the requirements of the Human Research Ethics Committee, University of Cape Town (ref HREC 026/2010--PB).
Whether fortified foods can qualify for use of FOP symbols.
Kaplan, Isaac and Rose Nassau Professor of Orthopedic Molecular Medicine, chief of the Division of Orthopedic Molecular Medicine and director of the Center for Research in FOP and Related Disorders at the University of Pennsylvania School of Medicine, is a world-renowned expert on FOP and knows many of the world's FOP sufferers by name.
Now, virtually every muscle in his body has turned to bone, making him one of the worst cases of FOP ever.
If the class action fails to sufficiently remedy the problem, the FOP may pursue other options, Pasco said.
Otherwise, file this fop under flop - but see it sail to No.
When Wulfgar's wife Signi falls victim to Gundrun's soul-thievery, Jessa, Kari, and their band of fop lowers have no choice but to travel into the deep white, where Kari must face off with his mother in a final battle to save the people of the Jarlshold as well as his own soul.
FOP designed the program to prevent or mitigate the adverse psychological reactions that so often accompany emergency services, public safety, and disaster response functions.