A5064808861- Heterotopic Ossification and Related Conditions
- Parathyroid Disorders and Treatments
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Istituto Giannina Gaslini
2024-2025
University of Genoa
2003-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2025
Regione Liguria
1991
Regione del Veneto
1991
Abstract Heterozygous mutations in the Bone morphogenetic protein (BMP) type I receptor ACVR1 , encoding activin-like kinase 2 (ALK2), underlie all cases of rare genetic musculoskeletal disorder Fibrodysplasia Ossificans Progressiva (FOP). The most commonly found mutant ALK2 p.R206H variant exhibits loss auto inhibition BMP signaling and can be activated by Activins, while wild-type receptors remain unresponsive. Consequently, downstream chondrogenic is enhanced, thus driving heterotopic...
The ACVR1 gene encodes a type I receptor of bone morphogenetic proteins (BMPs). Activating mutations in are responsible for fibrodysplasia ossificans progressiva (FOP), rare disease characterized by congenital toe malformation and progressive heterotopic endochondral ossification leading to severe cumulative disability. Until now, no therapy has been available prevent soft-tissue swelling (flare-ups) that trigger the process. With aim finding new therapeutic strategy FOP, we developed...
Background The ACVR1/Alk-2 gene, encoding a BMP type I receptor, is mutated in Fibrodysplasia Ossificans Progressiva, severe form of heterotopic ossification. Regulation expression, still poorly understood, likely to be controlled by transcriptional and post-transcriptional mechanisms. In our work, we focused on the functional role 3′UTR region gene microRNAs as possible modulators expression. Results consists 1.1 kb sequence harboring several putative, well-conserved binding sites for...
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder caused by sporadic heterozygous mutations in ACVR1 gene which progressively leads to severe heterotopic ossification. FOP characterized episodic flare-ups triggered different factors such as viral infections, tissue injuries, vaccinations, or occurring without recognizable cause. The course of the disease, documented presence an important inflammatory reaction early lesions and partial response corticosteroids support...
Abstract Background The ACVR1 gene encodes a type I receptor for bone morphogenetic proteins (BMPs). Mutations in the are associated with Fibrodysplasia Ossificans Progressiva (FOP), rare and extremely disabling disorder characterized by congenital malformation of great toes progressive heterotopic endochondral ossification muscles other non-skeletal tissues. Several aspects FOP pathophysiology still poorly understood, including mechanisms regulating expression. This work aimed to identify...
C3H10T1/2, a mouse mesenchymal stem cell line, is well-known in vitro model of chondrogenesis that can be easily employed to recapitulate some the mechanisms intervening this process. Moreover, these cells used validate effect candidate molecules identified by high throughput screening approaches applied development targeted therapy for human disorders which chondrogenic differentiation may involved, as conditions characterized heterotopic endochondral bone formation. Chondrogenic C3H10T1/2...
Abstract TP63 is a member of the TP53 gene family, sharing common structure that produces two groups mRNAs’ encoding proteins with different N-terminal regions (ΔN and TA isoforms); both transcripts are also subjected to alternative splicing mechanisms at C-terminus, generating variety isoforms. p63 master regulator epidermal development homoeostasis as well an important player in tumorigenesis cancer progression oncogenic tumour suppressive roles. A number studies have aimed identification...
Abstract Background Fibrodysplasia Ossificans Progressiva (FOP) is a rare autosomal dominant disease characterized by congenital malformation of the great toes and progressive heterotopic ossification soft tissues leading to cumulative disability. The genetic cause FOP are mutations in ACVR1 gene that encodes type I receptor Bone Morphogenetic Proteins. most recurrent mutation patients R206H affecting Glycine‐Serine rich domain causing hyper‐activation responsivity non‐canonical ligand,...