Results 11 to 20 of about 3,792 (182)

Oxidative phosphorylation is a pivotal therapeutic target of fibrodysplasia ossificans progressiva. [PDF]

Life Sci Alliance
酸化的リン酸化の抑制がFOPの新たな治療法に繋がる可能性. 京都大学プレスリリース. 2024-03-11.Heterotopic ossification (HO) is a non-physiological bone formation where soft tissue progenitor cells differentiate into chondrogenic cells.
Sun L, Jin Y, Nishio M, Watanabe M, Kamakura T, Nagata S, Fukuda M, Maekawa H, Kawai S, Yamamoto T, Toguchida J.   +10 more
europepmc   +3 more sources

Intermittent and Short-Term Empirical Ruxolitinib Regimen for Steroid-Refractory Flareups of Fibrodysplasia Ossificans Progressiva. [PDF]

Pharmacol Res Perspect
ABSTRACT Fibrodysplasia ossificans progressiva (FOP) is an ultra‐rare genetic disorder with inflammation‐related flare‐ups resulting in catastrophic heterotopic ossification (HO). Janus‐associated kinase (JAK) inhibitors may have had a blocking effect on bone formation in controlling FOP flare‐ups by blocking multiple inflammatory signaling pathways ...
Chen RL, Yang TH, Wang YH, Shaw JJ, Chen LY.   +4 more
europepmc   +2 more sources

Congenital hallux valgus occurs in Fibrodysplasia Ossificans Progressiva and BMPR1B-associated dysplasia: an important distinction. [PDF]

BMC Med Genomics
Background: Fibrodysplasia Ossificans Progressiva (FOP; OMIM #135100) is an ultrarare genetic disorder characterised by congenital bilateral hallux valgus (CBHV), intermittent soft tissue swellings and progressive heterotopic ossification.
Shirodkar D, Smithson SF, Keen R, Lester T, Banos-Pinero B, Burren CP.   +5 more
europepmc   +3 more sources

Fibrodysplasia Ossificans Progressiva

Neurology India
Abstract: Fibrodysplasia Ossificans Progressiva (FOP), commonly known as Stoneman Syndrome, is an ultra-rare genetic disorder characterized by the progressive ossification of soft tissues, leading to the formation of a secondary skeleton. This paper provides a comprehensive analysis of FOP, examining its epidemiology, pathophysiology, clinical ...
Agrawal U, Tiwari V.
europepmc   +4 more sources

Fibrodysplasia ossificans progressiva [PDF]

Best Practice & Research Clinical Rheumatology, 2008
Fibrodysplasia ossificans progressiva (FOP), a rare and disabling genetic condition of congenital skeletal malformations and progressive heterotopic ossification (HO), is the most catastrophic disorder of HO in humans. Episodic disease flare-ups are precipitated by soft tissue injury, and immobility is cumulative.
Frederick S, Kaplan, Martine, Le Merrer, David L, Glaser, Robert J, Pignolo, Robert E, Goldsby, Joseph A, Kitterman, Jay, Groppe, Eileen M, Shore   +7 more
openaire   +3 more sources

Fibrodysplasia Ossificans Progressiva: what have we achieved and where are we now? follow-up to the 2015 Lorentz Workshop [PDF]

, 2021
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare progressive genetic disease effecting one in a million individuals. During their life, patients with FOP progressively develop bone in the soft tissues resulting in increasing immobility and ...
Bocciardi, Renata, Botman, Esmée, Bravenboer, Nathalie, De Cunto, Carmen Laura, de Ruiter, Ruben D., Eekhoff, Elisabeth M. W., Hilderbrandt, Susanne, Hsiao, Edward C., Jaspers, Richard T., Kaplan, Frederick S., Keen, Richard, Knaus, Petra, Koolwijk, Peter, Micha, Dimitra, Morhart, Rolf, Netelenbos, Jan C., Pacifici, Maurizio, Pals, Gerard, Pignolo, Robert J., Ravazzolo, Roberto, Ribeiro Delai, Patricia Longo, Rustemeyer, Thomas, Sanchez Duffhues, Gonzalo, Schoenmaker, Ton, Scott, Christiaan, Shore, Eileen M., Smilde, Bernard J., Stockklausner, Clemens, Ten Dijke, Peter, Triffit, James, Van Egmond, Marjolein, Van Oosterwyck, Hans, Ventura Pujol, Francesc, Vries, Teun J de, Yu, Paul B.   +34 more
core   +5 more sources

Editorial of Special Issue “Fibrodysplasia Ossificans Progressiva: Studies on Disease Mechanism towards Novel Therapeutic Approaches”

Biomedicines, 2022
The Special Issue on “Fibrodysplasia Ossificans Progressiva: Studies on Disease Mechanism towards Novel Therapeutic Approaches” has published interesting and useful review articles and original experimental articles on fibrodysplasia ossificans ...
Roberto Ravazzolo
doaj   +1 more source

Fibrodysplasia Ossificans Progressiva: A rare case series

Journal of Orthopaedic Reports, 2023
Background: Fibrodysplasia ossificans progressiva is a rare autosomal dominant connective tissue disorder with a prevalence of 2 per million individuals.
Lokesh kumar Sekaran, Nirosha Ponnuraj, Vijayaraja Elangovan, Dheepan Kumar Sakthimohan   +3 more
doaj   +1 more source

Early Recognition of Fibrodysplasia Ossificans Progressiva-Important For the Clinician

Journal of Nepal Medical Association, 2016
Fibrodysplasia ossificans progressiva is a rare disorder of heterotopic ossification. Procedures like biopsy and surgery are known to be aggravating factors in promoting heterotopic ossification Clues to clinical diagnosis may therefore be a great ...
Ankur Singh, Gaurav Pradhan, Chandravati Kumari, Seema Kapoor   +3 more
doaj   +3 more sources

Knowledge and awareness about fibrodysplasia ossificans progressiva among dental students

Journal of Advanced Pharmaceutical Technology & Research, 2022
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder which is autosomal dominant distinguished by congenital malformations of large toes and flare ups, etc. It is a disorder of connective tissue, with heterotopic ossifications seen with
L Akshayaa, S Kavitha, V Vishnu Priya, R Gayathri   +3 more
doaj   +1 more source