Fibrodysplasia Ossificans Progressiva Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Famously creepy M ütter Museum reckons with its past
Many regular visitors to the Mütter Museum in Philadelphia have their favorite specimen. There’s the megacolon—a 2.4-meter-long brown organ, the result of Hirschsprung disease in a 29-year-old man who performed at a freak show as Balloon Man and died in 1892 with 18 kilograms of poop in his bowels. There’s the Soap Lady, whose remains are covered with adipocere , or “corpse wax,” a fatty substance that forms in warm, alkaline, and airless environments. And there are the skeletons of Carol Orzel and Harry Eastlack , two Philadelphians who lived with fibro...
Source: Science of Aging Knowledge Environment - July 21, 2023 Category: Geriatrics Source Type: research

GSE233843 Palovarotene action against heterotopic ossification includes the inhibition of local participating activin-A expressing cell populations
Contributors : Christina Mundy ; Lutian Yao ; Kelly A Shaughnessy ; Cheri Saunders ; Eileen M Shore ; Eiki Koyama ; Maurizio PacificiSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusHeterotopic ossification (HO) consists of extraskeletal bone formation. One form of HO is acquired and instigated by traumas or surgery, and another form is genetic and characterizes Fibrodysplasia Ossificans Progressiva (FOP). We and others showed that activin A promotes both acquired and genetic HO and found that the retinoid agonist Palovarotene inhibits both HO forms in mice. We asked whether Palo...
Source: GEO: Gene Expression Omnibus - July 1, 2023 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research

Reduced GS domain serine/threonine requirements of Fibrodysplasia Ossificans Progressiva mutant type I BMP receptor ACVR1 in the zebrafish
This article is protected by copyright. All rights reserved. (Source: Journal of Bone and Mineral Research)
Source: Journal of Bone and Mineral Research - June 18, 2023 Category: Orthopaedics Authors: Robyn S. Allen, William D. Jones, Maya Hale, Bailey N. Warder, Eileen M. Shore, Mary C. Mullins Tags: Research Article Source Type: research

Reduced GS domain serine/threonine requirements of Fibrodysplasia Ossificans Progressiva mutant type I BMP receptor ACVR1 in the zebrafish
This article is protected by copyright. All rights reserved.PMID:37329499 | DOI:10.1002/jbmr.4869 (Source: Cell Research)
Source: Cell Research - June 17, 2023 Category: Cytology Authors: Robyn S Allen William D Jones Maya Hale Bailey N Warder Eileen M Shore Mary C Mullins Source Type: research

Generation of induced pluripotent stem cell line (RCMGi009-A) from urine cells of patient with fibrodysplasia ossificans progressiva
Stem Cell Res. 2023 Jun 7;70:103133. doi: 10.1016/j.scr.2023.103133. Online ahead of print.ABSTRACTUrine cells obtained from a 14-year-old man with genetically proven (ACVR1: c.6176G > A) and clinically manifested fibrodysplasia ossificans progressiva were successfully transformed into induced pluripotent stem cells by using Sendai virus-based reprogramming vectors including the four Yamanaka factors such as OCT3/4, SOX2, KLF4, and c-MYC. These iPSCs expressed pluripotency markers, exhibited the potential to differentiate into three germ layers in spontaneous differentiation assay and had a normal karyotype. The iPSC li...
Source: Cell Research - June 12, 2023 Category: Cytology Authors: Ekaterina Kondrateva Olga Grigorieva Elizaveta Kurshakova Irina Panchuk Victoria Pozhitnova Ekaterina Voronina Vyacheslav Tabakov Maria Orlova Alexander Lavrov Svetlana Smirnikhina Sergey Kutsev Source Type: research

PCR229 Impact of Fibrodysplasia Ossificans Progressiva on Living Adaptations and Employment: Burden of Illness Survey Results from the United States and Canada
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder of heterotopic ossification that leads to cumulative loss of joint function, creating a substantial need for living adaptations and career changes for people affected.1 Here, we present the United States (U.S.) and Canadian results from an international burden of illness survey (NCT04665323) used to understand the economic impact of FOP. (Source: Value in Health)
Source: Value in Health - June 1, 2023 Category: International Medicine & Public Health Authors: M. Al Mukaddam, K.S. Toder, M. Davis, K. Croskery, A.S. Grandoulier, E. Boing, N. Shamseddine, F.S. Kaplan Source Type: research

MSR58 Relating Heterotopic Ossification Volume to Joint Function And Quality of Life: A Simulation Study in Fibrodysplasia Ossificans Progressiva (FOP)
To determine whether significant differences in functional and quality of life (QoL) outcomes can be expected in a trial that showed substantial reductions in heterotopic ossification (HO) volume in patients with FOP, an ultra-rare genetic disease. (Source: Value in Health)
Source: Value in Health - June 1, 2023 Category: International Medicine & Public Health Authors: L. Verburg - Baltussen, A. Gittfried, S. Kroep, B.V. Hout, E. Boing, R. Keen Source Type: research

CO77 Relationships between Heterotopic Ossification Volume and Functional and Quality of Life Endpoints in Fibrodysplasia Ossificans Progressiva (FOP)
To examine the relationships between heterotopic ossification (HO) volume and functional and quality of life (QoL) endpoints in patients with FOP, an ultra-rare severely debilitating genetic disease associated with progressive restriction of movement. (Source: Value in Health)
Source: Value in Health - June 1, 2023 Category: International Medicine & Public Health Authors: L. Verburg - Baltussen, N. Dunnewind, S. Kroep, B.V. Hout, E. Boing, R. Keen Source Type: research

CO32 Heterotopic Ossification in Palovarotene-Treated and Untreated Individuals with Fibrodysplasia Ossificans Progressiva: Matched and Weighted Analyses
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare, genetic disorder characterized by progressive heterotopic ossification (HO), leading to cumulative disability. Post hoc analyses of HO volume changes observed during the phase III MOVE trial (NCT03312634) versus a non-interventional natural history study (NHS; NCT02322255) allow further evaluation of palovarotene for the treatment of FOP. (Source: Value in Health)
Source: Value in Health - June 1, 2023 Category: International Medicine & Public Health Authors: M. Al Mukaddam, G. Baujat, A.M. Cheung, C. De Cunto, E.C. Hsiao, R. Keen, J. Marden, J. Signorovitch, E. Boing, R. Marino, A. Strahs, R.J. Pignolo Source Type: research

The serum levels of activin A and bone morphogenetic protein-4 and -6 in patients with fibrodysplasia ossificans progressiva
Fibrodysplasia ossificans progressiva (FOP) is an ultrarare and disabling genetic disorder of connective tissue characterized by congenital malformation of the great toes, and progressive heterotopic ossificat... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 10, 2023 Category: Internal Medicine Authors: Zhengqin Ye, Siyi Wang, Chang Shan, Qi Zhu, Ying Xue and Keqin Zhang Tags: Research Source Type: research