Articles with "fibrodysplasia ossificans" as a keyword



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Palovarotene for Fibrodysplasia Ossificans Progressiva (FOP): Results of a Randomized, Placebo‐Controlled, Double‐Blind Phase 2 Trial

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Published in 2022 at "Journal of Bone and Mineral Research"

DOI: 10.1002/jbmr.4655

Abstract: Fibrodysplasia ossificans progressiva (FOP) is an ultra‐rare genetic disorder characterized by progressive heterotopic ossification (HO), often heralded by flare‐ups, leading to reduced movement and life expectancy. This placebo‐controlled, double‐blind trial (NCT02190747) evaluated palovarotene, an orally… read more here.

Keywords: progressiva fop; placebo; ossificans progressiva; week ... See more keywords
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Functional Testing of Bone Morphogenetic Protein (BMP) Pathway Variants Identified on Whole‐Exome Sequencing in a Patient with Delayed‐Onset Fibrodysplasia Ossificans Progressiva (FOP) Using ACVR1R206H ‐Specific Human Cellular and Zebrafish Models

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Published in 2022 at "Journal of Bone and Mineral Research"

DOI: 10.1002/jbmr.4711

Abstract: Bone morphogenetic protein (BMP) signaling is critical in skeletal development. Overactivation can trigger heterotopic ossification (HO) as in fibrodysplasia ossificans progressiva (FOP), a rare, progressive disease of massive HO formation. A small subset of FOP… read more here.

Keywords: protein bmp; bmp signaling; bone; bone morphogenetic ... See more keywords
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Evolution of heterotopic bone in fibrodysplasia ossificans progressiva: An [18F]NaF PET/CT study.

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Published in 2019 at "Bone"

DOI: 10.1016/j.bone.2019.03.009

Abstract: Fibrodysplasia ossificans progressiva (FOP) is a rare, autosomal dominant disorder characterized by heterotopic ossification (HO) in muscles, ligaments and tendons. Flare-ups often precede the formation of HO, resulting in immobilization of joints. Due to progression… read more here.

Keywords: 18f naf; ossificans progressiva; naf pet; fibrodysplasia ossificans ... See more keywords
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Self-reported baseline phenotypes from the International Fibrodysplasia Ossificans Progressiva (FOP) Association Global Registry.

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Published in 2020 at "Bone"

DOI: 10.1016/j.bone.2020.115274

Abstract: A global, patient-reported registry has been established to characterize the course of disease and track clinical outcomes in patients with fibrodysplasia ossificans progressiva (FOP), an ultra-rare genetic condition of progressive heterotopic ossification (HO) that results… read more here.

Keywords: progressiva fop; fibrodysplasia ossificans; baseline phenotypes; fop association ... See more keywords
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Late-onset fibrodysplasia ossificans progressiva with atypical presentation: A case report

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Published in 2019 at "Case Reports in Women's Health"

DOI: 10.1016/j.crwh.2019.e00134

Abstract: Fribrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized by progressive heterotopic ossification of connective tissues, episodic flare-ups and bilateral deformities of the great toe (hallux valgus). As faulty tissue repair processes progressively calcify… read more here.

Keywords: hallux valgus; late onset; fibrodysplasia ossificans; case ... See more keywords
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The congenital great toe malformation of fibrodysplasia ossificans progressiva? - A close call.

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Published in 2017 at "European journal of medical genetics"

DOI: 10.1016/j.ejmg.2017.04.013

Abstract: BACKGROUND Congenital bilateral hallux valgus with associated absence or fusion of the interphalangeal joint is a classic diagnostic feature of fibrodysplasia ossificans progressiva (FOP), a human genetic disease of extra-skeletal bone formation caused in nearly… read more here.

Keywords: great toe; fibrodysplasia ossificans; toe malformation; malformation ... See more keywords
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Insights into the biology of fibrodysplasia ossificans progressiva using patient-derived induced pluripotent stem cells☆

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Published in 2019 at "Regenerative Therapy"

DOI: 10.1016/j.reth.2019.04.004

Abstract: The demand for development of new drugs remains on the upward trend because of the large number of patients suffering from intractable diseases for which effective treatment has not been established yet. Recently, several researchers… read more here.

Keywords: fibrodysplasia ossificans; ossificans progressiva; biology; pluripotent stem ... See more keywords
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Generation of Fibrodysplasia ossificans progressiva and control integration free iPSC lines from periodontal ligament fibroblasts.

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Published in 2019 at "Stem cell research"

DOI: 10.1016/j.scr.2019.101639

Abstract: Fibrodysplasia ossificans progressiva (FOP) is a very rare devastating heterotopic ossification disorder, classically caused by a heterozygous single point mutation (c.617G>A) in the ACVR1gene, encoding the Bone morphogenetic protein (BMP) type I receptor, also termed… read more here.

Keywords: periodontal ligament; fibrodysplasia ossificans; control; generation ... See more keywords
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Gene Therapy for Fibrodysplasia Ossificans Progressiva: Feasibility and Obstacles

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Published in 2022 at "Human Gene Therapy"

DOI: 10.1089/hum.2022.023

Abstract: Fibrodysplasia ossificans progressiva (FOP) is a rare and devastating genetic disease, in which soft connective tissue is converted into heterotopic bone through an endochondral ossification process. Patients succumb early as they gradually become trapped in… read more here.

Keywords: fibrodysplasia ossificans; gene; ossificans progressiva; gene therapy ... See more keywords
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AB1029 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA: A CHALLENGE TO DIAGNOSE AND TO TREAT

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Published in 2019 at "Annals of the Rheumatic Diseases"

DOI: 10.1136/annrheumdis-2019-eular.7398

Abstract: Background Fibrodysplasia ossificans progressiva (FOP) caused by mutations in the ACVR1 gene, which codes for activin receptor IA, a type I receptor of the bone morphogenetic protein (BMP) pathway. FOP is a very rare disease… read more here.

Keywords: diagnosis; fibrodysplasia ossificans; bilateral hallux; therapy ... See more keywords
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Surgical management of bilateral hip fractures in a patient with fibrodysplasia ossificans progressiva treated with the RAR-γ agonist palovarotene: a case report

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Published in 2020 at "BMC Musculoskeletal Disorders"

DOI: 10.1186/s12891-020-03240-2

Abstract: Background Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disorder marked by painful, recurrent flare-ups and heterotopic ossification (HO) in soft and connective tissues, which can be idiopathic or provoked by trauma, illness, inflammation, or surgery.… read more here.

Keywords: surgery; fibrodysplasia ossificans; palovarotene; fracture ... See more keywords