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Fibrodysplasia ossificans progressiva (FOP) is a rare congenital disorder of skeletal malformations and progressive extraskeletal ossification. There is still no effective treatment for FOP.
Hao Song, De-Li Zhang, Xuesong Gao
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ACVR1 Is Essential for Periodontium Development and Promotes Alveolar Bone Formation
Archives of Oral Biology, 2018To explore the role of a BMP type I receptor (ACVR1) in regulating periodontium development, Acvr1 was conditionally disrupted in Osterix-expressing cells.Mandibles from both control (Acvr1 fx/+; Osterix-Cre (+)/(-)) and cKO (Acvr1 fx/-; Osterix-Cre (+)/(-)) mice at postnatal day 21 (PN21) were scanned by micro-CT, followed by decalcification and ...
Yue Hu, Hongchen Sun, Guangxing Yan
exaly +3 more sources
Functional Modeling of the ACVR1 (R206H) Mutation in FOP
Clinical Orthopaedics & Related Research, 2007Individuals with fibrodysplasia ossificans progressiva are born with malformations of the great toes and develop a heterotopic skeleton during childhood because of an identical heterozygous mutation in the glycine-serine activation domain of ACVR1, a bone morphogenetic protein type I receptor.
Jay C, Groppe +2 more
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ACVR1 Mutations—A Key Piece in Paediatric Diffuse Glioma [PDF]
M Teresa Villanueva
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ACVR1 mutations and the genomic landscape of pediatric diffuse glioma
Nature Genetics, 2014Pediatric diffuse gliomas are rare but aggressive brain tumors for which effective therapies are unavailable. New studies identify recurrent mutations of the ACVR1 gene in these tumors, identify molecular subtypes and highlight differences between gliomas affecting children and adults.
Gelareh Zadeh, Kenneth Aldape
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Clinical Dysmorphology
Objectives Fibrodysplasia ossificans progressiva (FOP) is a rare ectopic ossification disorder of connective tissue deposited in the muscles, fascia, tendons, and ligaments. The disease is an autosomal dominant pattern caused by pathogenic variants of ACVR1.
Rasha M, Elhossini +15 more
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Objectives Fibrodysplasia ossificans progressiva (FOP) is a rare ectopic ossification disorder of connective tissue deposited in the muscles, fascia, tendons, and ligaments. The disease is an autosomal dominant pattern caused by pathogenic variants of ACVR1.
Rasha M, Elhossini +15 more
openaire +2 more sources
ACVR1 and Fibrodysplasia Ossificans Progressiva
2016Frederick S. Kaplan +2 more
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Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature, 2022
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