Works matching Fibrodysplasia ossificans progressiva

Results: 806

Radiation Therapy in Treatment of Fibrodysplasia Ossificans Progressiva: A Case Report and Review of the Literature.

Published in:

Collegium Antropologicum, 2011, v. 35, n. 2, p. 611

By:

Soldić, Šeljko;
Murgić, Jure;
Radić, Jasna;
Dabelić, Nina;
Jazvić, Marijana;
Brozić, Jasmina Marić;
Kusić, Zvonko

Publication type:

Article

Longitudinal study of the activities of daily living and quality of life in Japanese patients with fibrodysplasia ossificans progressiva.

Published in:

Disability & Rehabilitation, 2019, v. 41, n. 6, p. 699, doi. 10.1080/09638288.2017.1405083

By:

Nakahara, Yasuo;
Kitoh, Hiroshi;
Nakashima, Yasuharu;
Toguchida, Junya;
Haga, Nobuhiko

Publication type:

Article

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

Published in:

2022

By:

Ravazzolo, Roberto

Publication type:

Editorial

Characteristic calcaneal ossification: an additional early radiographic finding in infants with fibrodysplasia ossificans progressiva.

Published in:

2016

By:

Hasegawa, Sachi;
Victoria, Teresa;
Kayserili, Hülya;
Zackai, Elaine;
Nishimura, Gen;
Haga, Nobuhiko;
Nakashima, Yasuharu;
Miyazaki, Osamu;
Kitoh, Hiroshi;
Kayserili, Hülya

Publication type:

journal article

Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients.

Published in:

Clinical Genetics, 2010, v. 77, n. 2, p. 171, doi. 10.1111/j.1399-0004.2009.01256.x

By:

Carvalho, D. R.;
Navarro, M. M. M.;
Martins, B. J. A. F.;
Coelho, K. E. F. A.;
Mello, W. D.;
Takata, R. I.;
Speck-Martins, C. E.

Publication type:

Article

Fibrodysplasia ossificans progressiva: Histopathological implications of aberrant bone morphogenic protein signalling for CNS dysgenesis.

Published in:

Neuropathology & Applied Neurobiology, 2022, v. 48, n. 4, p. 1, doi. 10.1111/nan.12805

By:

Tanaka, Hidetomo;
Shimizu, Hiroshi;
Yonemochi, Yosuke;
Ozawa, Tetsuo;
Toyoshima, Yasuko;
Nakajima, Takashi;
Kakita, Akiyoshi

Publication type:

Article

Fibrodysplasia ossificans progressiva: a current review of imaging findings.

Published in:

2018

By:

Bauer, Adam H.;
Bonham, Jeff;
Gutierrez, Luis;
Motamedi, Daria;
Hsiao, Edward C.

Publication type:

journal article

An extreme entity in differential diagnosis of musculoskeletal involvement-fibrodysplasia ossificans progressiva: a case based review.

Published in:

Turkish Journal of Pediatrics, 2018, v. 60, n. 5, p. 593, doi. 10.24953/turkjped.2018.05.021

By:

Çakan, Mustafa;
Aktay-Ayaz, Nuray;
Karadağ, Şerife Gül;
Keskindemirci, Gonca

Publication type:

Article

Fibrodysplasia ossificans progressiva (stone man syndrome): a case report.

Published in:

2019

By:

Shah, Zakir Ali;
Rausch, Sascha;
Arif, Uzma;
El Yafawi, Bilal

Publication type:

journal article

Characterization of flare-ups and impact of garetosmab in adults with fibrodysplasia ossificans progressiva: a post hoc analysis of the randomized, double-blind, placebo-controlled LUMINA-1 trial.

Published in:

Journal of Bone & Mineral Research, 2024, v. 39, n. 10, p. 1486, doi. 10.1093/jbmr/zjae140

By:

Keen, Richard;
Dahir, Kathryn M;
McGinniss, Jennifer;
Sanchez, Robert J;
Mellis, Scott;
Economides, Aris N;
Di Rocco, Maja;
Orcel, Philippe;
Roux, Christian;
Tabarkiewicz, Jacek;
Bachiller-Corral, Javier;
Cheung, Angela M;
Al Mukaddam, Mona;
Mohammadi, Kusha;
Gu, Jing;
Srinivasan, Dushyanth;
Trotter, Dinko Gonzalez;
Eekhoff, E Marelise W;
Kaplan, Frederick S;
Pignolo, Robert J

Publication type:

Article

Fibrodysplasia ossificans progressiva in a newborn with cardiac involvement.

Published in:

Pediatrics International, 2015, v. 57, n. 4, p. 719, doi. 10.1111/ped.12575

By:

Marseglia, Lucia;
D'Angelo, Gabriella;
Manti, Sara;
Manganaro, Alessandro;
Calabrò, Maria Pia;
Salpietro, Carmelo;
Gitto, Eloisa

Publication type:

Article

Challenges in the diagnosis of fibrodysplasia ossificans progressiva with the ACVR1 mutation (c.774G > C, p.R258S): a case report and review of literature.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03363-y

By:

Yang, Siqi;
Cui, Rongrong;
Li, Jialin;
Dai, Ruchun

Publication type:

Article

Prevalence of fibrodysplasia ossificans progressiva (FOP) in the United States: estimate from three treatment centers and a patient organization.

Published in:

2021

By:

Pignolo, Robert J.;
Hsiao, Edward C.;
Baujat, Genevieve;
Lapidus, David;
Sherman, Adam;
Kaplan, Frederick S.

Publication type:

journal article

Respiratory oscillometry in individuals with fibrodysplasia ossificans progressiva.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03846-6

By:

Vasileva, Anastasiia;
Wu, Joyce K. Y.;
Valaee, Melissa;
Ortiz, Ethan;
Hantos, Zoltán;
Tile, Lianne;
Ho, Irene;
Cheung, Angela M.;
Chow, Chung-Wai

Publication type:

Article

Long-term use of interleukin-1 inhibitors reduce flare activity in patients with fibrodysplasia ossificans progressiva.

Published in:

Rheumatology, 2024, v. 63, n. 9, p. 2597, doi. 10.1093/rheumatology/keae255

By:

Haviv, Ruby;
Zeitlin, Leonid;
Moshe, Veronica;
Ziv, Amit;
Rabinowicz, Noa;
Benedetti, Fabrizio De;
Prencipe, Giusi;
Matteo, Valentina;
Cunto, Carmen Laura De;
Hsiao, Edward C;
Uziel, Yosef

Publication type:

Article

Pay Attention to the Osteochondromas in Fibrodysplasia Ossificans Progressiva.

Published in:

Orthopaedic Surgery, 2024, v. 16, n. 3, p. 781, doi. 10.1111/os.13956

By:

Li, Longqing;
Lu, Minxun;
He, Xuanhong;
Zou, Chang;
Zheng, Chuanxi;
Wang, Yitian;
Tang, Fan;
Luo, Yi;
Zhou, Yong;
Min, Li;
Tu, Chongqi

Publication type:

Article

Ultrastructural finding of vascular degeneration in fibrodysplasia ossificans progressiva (FOP).

Published in:

1995

By:

El-Labban, N. G.;
Hopper, C.;
Barber, P.

Publication type:

journal article

Is fibrodysplasia ossificans progressiva an interleukin-1 driven auto-inflammatory syndrome?

Published in:

Pediatric Rheumatology, 2019, v. 17, n. 1, p. 1, doi. 10.1186/s12969-019-0386-6

By:

Haviv, Ruby;
Moshe, Veronica;
De Benedetti, Fabrizio;
Prencipe, Giusi;
Rabinowicz, Noa;
Uziel, Yosef

Publication type:

Article

Suppressed prefrontal cortex oscillations associate with clinical pain in fibrodysplasia ossificans progressiva.

Published in:

2021

By:

Peng, Ke;
Karunakaran, Keerthana Deepti;
Labadie, Robert;
Veliu, Miranda;
Cheung, Chandler;
Lee, Arielle;
Yu, Paul B.;
Upadhyay, Jaymin

Publication type:

journal article

Patients with ACVR1<sup>R206H</sup> mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva.

Published in:

2020

By:

Kou, Samuel;
De Cunto, Carmen;
Baujat, Geneviève;
Wentworth, Kelly L.;
Grogan, Donna R.;
Brown, Matthew A.;
Di Rocco, Maja;
Keen, Richard;
Al Mukaddam, Mona;
le Quan Sang, Kim-Hanh;
Masharani, Umesh;
Kaplan, Frederick S.;
Pignolo, Robert J.;
Hsiao, Edward C.

Publication type:

journal article

Serum osteocalcin level is associated with the mortality in Chinese patients with Fibrodysplasia ossificans progressiva aged ≤18 years at diagnosis.

Published in:

BMC Musculoskeletal Disorders, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12891-020-3170-3

By:

She, Dunmin;
Li, Ran;
Fang, Ping;
Zong, Guannan;
Xue, Ying;
Zhang, Keqin

Publication type:

Article

Surgical management of bilateral hip fractures in a patient with fibrodysplasia ossificans progressiva treated with the RAR-γ agonist palovarotene: a case report.

Published in:

2020

By:

Singh, Sukhmani;
Kidane, Joseph;
Wentworth, Kelly L.;
Motamedi, Daria;
Morshed, Saam;
Schober, Andrew E.;
Hsiao, Edward C.

Publication type:

journal article

Serum osteocalcin level is associated with the mortality in Chinese patients with Fibrodysplasia ossificans progressiva aged ≤18 years at diagnosis.

Published in:

2020

By:

She, Dunmin;
Li, Ran;
Fang, Ping;
Zong, Guannan;
Xue, Ying;
Zhang, Keqin

Publication type:

journal article

Activin-A Induces Early Differential Gene Expression Exclusively in Periodontal Ligament Fibroblasts from Fibrodysplasia Ossificans Progressiva Patients.

Published in:

Biomedicines, 2021, v. 9, n. 6, p. 629, doi. 10.3390/biomedicines9060629

By:

Schoenmaker, Ton;
Mokry, Michal;
Micha, Dimitra;
Netelenbos, Coen;
Bravenboer, Nathalie;
Gilijamse, Marjolijn;
Eekhoff, E. Marelise W.;
de Vries, Teun J.

Publication type:

Article

Cardiopulmonary and Neurologic Dysfunctions in Fibrodysplasia Ossificans Progressiva.

Published in:

Biomedicines, 2021, v. 9, n. 2, p. 155, doi. 10.3390/biomedicines9020155

By:

Khan, Fatima;
Yu, Xiaobing;
Hsiao, Edward C.;
Ravazzolo, Roberto;
Mousa, Shaker A.

Publication type:

Article

Genomic Context and Mechanisms of the ACVR1 Mutation in Fibrodysplasia Ossificans Progressiva.

Published in:

Biomedicines, 2021, v. 9, n. 2, p. 154, doi. 10.3390/biomedicines9020154

By:

Ravazzolo, Roberto;
Bocciardi, Renata;
Carbonare, Luca G. Dalle

Publication type:

Article

Midline brain hamartomatous lesions in fibrodysplasia ossificans progressiva with ACVR1 mutations.

Published in:

Neuropathology, 2023, v. 43, n. 4, p. 333, doi. 10.1111/neup.12892

By:

Kresak, Jesse Lee;
Walsh, Meggen;
Tuzzolo, Anthony;
Ordulu, Zehra;
Gregory, Jason

Publication type:

Article

Symmetrical glial hyperplasia in the brainstem of fibrodysplasia ossificans progressiva.

Published in:

Neuropathology, 2021, v. 41, n. 2, p. 146, doi. 10.1111/neup.12715

By:

Mori, Shinichiro;
Suzuki, Satoshi O.;
Honda, Hiroyuki;
Hamasaki, Hideomi;
Sakae, Nobutaka;
Sasagasako, Naokazu;
Furuya, Hirokazu;
Iwaki, Toru

Publication type:

Article

The Activation of the Fibrodysplasia Ossificans Progressiva-Inducing ALK2-R206H Mutant Depends on the Distinct Homo-Oligomerization Patterns of ACVR2B and ACVR2A.

Published in:

Cells (2073-4409), 2024, v. 13, n. 3, p. 221, doi. 10.3390/cells13030221

By:

Szilágyi, Szabina Szófia;
Burdzinski, Wiktor;
Jatzlau, Jerome;
Ehrlich, Marcelo;
Knaus, Petra;
Henis, Yoav I.

Publication type:

Article

The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 5, p. 473, doi. 10.1007/s10038-007-0128-3

By:

Nakajima, Masahiro;
Haga, Nobuhiko;
Takikawa, Kazuharu;
Manabe, Noriyo;
Nishimura, Gen;
Ikegawa, Shiro

Publication type:

Article

A follow-up report on the published paper Social and clinical impact of COVID-19 on patients with fibrodysplasia ossificans progressiva.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02638-0

By:

Wallace, Hayley;
Lee, Rhonda H.;
Hsiao, Edward C.

Publication type:

Article

New Protocol to Optimize i PS Cells for Genome Analysis of Fibrodysplasia Ossificans Progressiva.

Published in:

Stem Cells, 2015, v. 33, n. 6, p. 1730, doi. 10.1002/stem.1981

By:

Matsumoto, Yoshihisa;
Fukuta, Makoto;
Toguchida, Junya;
Ikeya, Makoto;
Nagata, Sanae;
Hino, Kyosuke;
Horigome, Kazuhiko;
Watanabe, Makoto;
Otsuka, Takanobu;
Yamamoto, Takuya

Publication type:

Article

Alk2 Regulates Early Chondrogenic Fate in Fibrodysplasia Ossificans Progressiva Heterotopic Endochondral Ossification.

Published in:

Stem Cells, 2014, v. 32, n. 5, p. 1289, doi. 10.1002/stem.1633

By:

Culbert, Andria L.;
Chakkalakal, Salin A.;
Theosmy, Edwin G.;
Brennan, Tracy A.;
Kaplan, Frederick S.;
Shore, Eileen M.

Publication type:

Article

BMP signaling and skeletal development in fibrodysplasia ossificans progressiva (FOP).

Published in:

Developmental Dynamics, 2022, v. 251, n. 1, p. 164, doi. 10.1002/dvdy.387

By:

Towler, Oscar Will;
Shore, Eileen M.

Publication type:

Article

Creation of Induced Pluripotent Stem Cells RCMGi014-A Using Reprogramming of Urine Cells of a Patient with Fibrodysplasia Ossificans Progressiva Associated with Heterozygous Mutation in the ACVR1 Gene.

Published in:

Russian Journal of Developmental Biology, 2024, v. 55, n. 1, p. 34, doi. 10.1134/S1062360424700048

By:

Kondrateva, E. V.;
Grigorieva, O. V.;
Kurshakova, E. V.;
Panchuk, I. O.;
Pozhitnova, V. O.;
Voronina, E. S.;
Tabakov, V. Yu.;
Nikishina, I. P.;
Arsenyeva, S. V.;
Matkava, V. G.;
Lavrov, A. V.;
Smirnikhina, S. A.;
Kutsev, S. I.

Publication type:

Article

Anaesthetic considerations in a child with fibrodysplasia ossificans progressiva.

Published in:

Southern African Journal of Anaesthesia & Analgesia, 2019, v. 25, n. 1, p. 29, doi. 10.1080/22201181.2018.1517918

By:

Kleyenstüber, Thomas

Publication type:

Article

Feasibility of bisphosphonate therapy in an Indian pediatric patient of fibrodysplasia ossificans progressiva.

Published in:

International Journal of Applied & Basic Medical Research, 2019, v. 9, n. 2, p. 118, doi. 10.4103/ijabmr.IJABMR_52_18

By:

Kochar, Inderpal;
Sethi, Aashish;
Ramachandran, Smita

Publication type:

Article

Fibrodysplasia Ossificans Progressiva: A Challenging Diagnosis.

Published in:

Genes, 2021, v. 12, n. 8, p. 1187, doi. 10.3390/genes12081187

By:

De Brasi, Daniele;
Orlando, Francesca;
Gaeta, Valeria;
De Liso, Maria;
Acquaviva, Fabio;
Martemucci, Luigi;
Mastrominico, Augusto;
Di Rocco, Maja

Publication type:

Article

Identification of the Identical Human Mutation in ACVR1 in 2 Cats With Fibrodysplasia Ossificans Progressiva.

Published in:

Veterinary Pathology, 2019, v. 56, n. 4, p. 614, doi. 10.1177/0300985819835585

By:

Casal, Margret L.;
Engiles, Julie B.;
Zakošek Pipan, Maja;
Berkowitz, Asaf;
Porat-Mosenco, Yael;
Mai, Wilfried;
Wurzburg, Kirsten;
Xu, Mei-Qi;
Allen, Robyn;
ODonnell, Patricia A.;
Henthorn, Paula S.;
Thompson, Keith;
Shore, Eileen M.

Publication type:

Article

Identification of the Identical Human Mutation in ACVR1 in 2 Cats With Fibrodysplasia Ossificans Progressiva.

Published in:

Veterinary Pathology, 2019, v. 56, n. 4, p. 614, doi. 10.1177/0300985819835585

By:

Casal, Margret L.;
Engiles, Julie B.;
Zakošek Pipan, Maja;
Berkowitz, Asaf;
Porat-Mosenco, Yael;
Mai, Wilfried;
Wurzburg, Kirsten;
Xu, Mei-Qi;
Allen, Robyn;
ODonnell, Patricia A.;
Henthorn, Paula S.;
Thompson, Keith;
Shore, Eileen M.

Publication type:

Article

Transcriptomic Differences Underlying the Activin-A Induced Large Osteoclast Formation in Both Healthy Control and Fibrodysplasia Ossificans Progressiva Osteoclasts.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 7, p. 6822, doi. 10.3390/ijms24076822

By:

Schoenmaker, Ton;
Zwaak, Joy;
Loos, Bruno G.;
Volckmann, Richard;
Koster, Jan;
Eekhoff, E. Marelise W.;
de Vries, Teun J.

Publication type:

Article

TGF-Beta Induces Activin A Production in Dermal Fibroblasts Derived from Patients with Fibrodysplasia Ossificans Progressiva.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2299, doi. 10.3390/ijms24032299

By:

de Ruiter, Ruben D.;
Wisse, Lisanne E.;
Schoenmaker, Ton;
Yaqub, Maqsood;
Sánchez-Duffhues, Gonzalo;
Eekhoff, E. Marelise W.;
Micha, Dimitra

Publication type:

Article

The Horizon of a Therapy for Rare Genetic Diseases: A "Druggable" Future for Fibrodysplasia Ossificans Progressiva.

Published in:

International Journal of Molecular Sciences, 2018, v. 19, n. 4, p. 989, doi. 10.3390/ijms19040989

By:

Cappato, Serena;
Giacopelli, Francesca;
Ravazzolo, Roberto;
Bocciardi, Renata

Publication type:

Article

CNS demyelination in fibrodysplasia ossificans progressiva.

Published in:

Journal of Neurology, 2012, v. 259, n. 12, p. 2644, doi. 10.1007/s00415-012-6563-x

By:

Kan, Lixin;
Kitterman, Joseph;
Procissi, Daniele;
Chakkalakal, Salin;
Peng, Chian-Yu;
McGuire, Tammy;
Goldsby, Robert;
Pignolo, Robert;
Shore, Eileen;
Kaplan, Frederick;
Kessler, John

Publication type:

Article

Recent progress in drug development for fibrodysplasia ossificans progressiva.

Published in:

Molecular & Cellular Biochemistry, 2022, v. 477, n. 10, p. 2327, doi. 10.1007/s11010-022-04446-9

By:

Meng, Xinmiao;
Wang, Haotian;
Hao, Jijun

Publication type:

Article

Long-term dental outcomes in patients with fibrodysplasia ossificans progressiva: a report of three cases of tooth extraction.

Published in:

Quintessence International, 2022, v. 53, n. 8, p. 712, doi. 10.3290/j.qi.b3094989

By:

Yuko Fujihara;
Yoshiyuki Mori;
Hideto Saijo;
Takahiro Abe;
Takafumi Susami;
Nobuhiko Haga;
Kazuto Hoshi

Publication type:

Article

Tracheostomy for the pediatric patient with fibrodysplasia ossificans progressiva: a case report.

Published in:

2024

By:

Kobayashi, Megumi;
Hirai, Misako;
Suzuki, Makoto;
Sasaki, Akira

Publication type:

Case Study

Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP).

Published in:

British Journal of Clinical Pharmacology, 2019, v. 85, n. 6, p. 1199, doi. 10.1111/bcp.13777

By:

Hsiao, Edward C.;
Di Rocco, Maja;
Cali, Amanda;
Zasloff, Michael;
Al Mukaddam, Mona;
Pignolo, Robert J.;
Grunwald, Zvi;
Netelenbos, Coen;
Keen, Richard;
Baujat, Genevieve;
Brown, Matthew A.;
Cho, Tae‐Joon;
De Cunto, Carmen;
Delai, Patricia;
Haga, Nobuhiko;
Morhart, Rolf;
Scott, Christiaan;
Zhang, Keqin;
Diecidue, Robert J.;
Friedman, Clive S.

Publication type:

Article

Dysregulated BMP Signaling and Enhanced Osteogenic Differentiation of Connective Tissue Progenitor Cells From Patients With Fibrodysplasia Ossificans Progressiva (FOP).

Published in:

Journal of Bone & Mineral Research, 2008, v. 23, n. 3, p. 305, doi. 10.1359/jbmr.071030

By:

Billings, Paul C.;
Fiori, Jennifer L.;
Bentwood, Jennifer L.;
O'Connell, Michael P.;
Xiangyang Jiao;
Nussbaum, Burton;
Caron, Robert J.;
Shore, Eileen M.;
Kaplan, Frederick S.

Publication type:

Article

Study methodology and insights from the palovarotene clinical development program in fibrodysplasia ossificans progressiva.

Published in:

BMC Medical Research Methodology, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12874-023-02080-7

By:

Pignolo, Robert J.;
Al Mukaddam, Mona;
Baujat, Geneviève;
Brown, Matthew A.;
De Cunto, Carmen;
Hsiao, Edward C.;
Keen, Richard;
Le Quan Sang, Kim-Hanh;
Grogan, Donna R.;
Marino, Rose;
Strahs, Andrew R.;
Kaplan, Frederick S.

Publication type:

Article