PMC Links for OMIM (Select 102576) - PMC

Select item 91975261.

Anti-ACVR1 antibodies exacerbate heterotopic ossification in fibrodysplasia ossificans progressiva (FOP) by activating FOP-mutant ACVR1

Senem Aykul, Lily Huang, Lili Wang, Nanditha M. Das, Sandra Reisman, Yonaton Ray, Qian Zhang, Nyanza Rothman, Kalyan C. Nannuru, Vishal Kamat, Susannah Brydges, Luca Troncone, Laura Johnsen, Paul B. Yu, Sergio Fazio, John Lees-Shepard, Kevin Schutz, Andrew J. Murphy, Aris N. Economides, Vincent Idone, Sarah J. Hatsell

J Clin Invest. 2022 Jun 15; 132(12): e153792. Published online 2022 Jun 15. doi: 10.1172/JCI153792

PMCID:: PMC9197526

Abstract Article PDF–1.2M

Select item 33209112.

Role of Osteoglycin in the Linkage between Muscle and Bone

Ken-ichiro Tanaka, Erika Matsumoto, Yoshiko Higashimaki, Takenobu Katagiri, Toshitsugu Sugimoto, Susumu Seino, Hiroshi Kaji

J Biol Chem. 2012 Apr 6; 287(15): 11616–11628. Published online 2012 Feb 20. doi: 10.1074/jbc.M111.292193

PMCID:: PMC3320911

Abstract Article PDF–2.0M

Select item 31604623.

A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date

Celia L. Gregson, Peter Hollingworth, Martin Williams, Kirsten A. Petrie, Alex N. Bullock, Matthew A. Brown, Jon H. Tobias, James T. Triffitt

Bone. Author manuscript; available in PMC 2011 Aug 23.

Published in final edited form as: Bone. 2011 Mar 1; 48(3): 654–658. Published online 2010 Oct 29. doi: 10.1016/j.bone.2010.10.164

PMCID:: PMC3160462

Abstract Article PDF–1.1M

Select item 29861774.

Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements

Renata Bocciardi, Domenico Bordo, Marco Di Duca, Maja Di Rocco, Roberto Ravazzolo

Eur J Hum Genet. 2009 Mar; 17(3): 311–318. Published online 2008 Oct 1. doi: 10.1038/ejhg.2008.178

PMCID:: PMC2986177

Abstract Article PDF–280K

Select item 29218615.

Classic and Atypical FOP Phenotypes are Caused by Mutations in the BMP Type I Receptor ACVR1

Frederick S. Kaplan, Meiqi Xu, Petra Seemann, Michael Connor, David L. Glaser, Liam Carroll, Patricia Delai, Elisabeth Fastnacht-Urban, Stephen J. Forman, Gabriele Gillessen-Kaesbach, Julie Hoover-Fong, Bernhard Köster, Richard M. Pauli, William Reardon, Syed-Adeel Zaidi, Michael Zasloff, Rolf Morhart, Stefan Mundlos, Jay Groppe, Eileen M. Shore

Hum Mutat. Author manuscript; available in PMC 2010 Aug 16.

Published in final edited form as: Hum Mutat. 2009 Mar; 30(3): 379–390. doi: 10.1002/humu.20868

PMCID:: PMC2921861

Abstract Article PDF–1.1M

Select item 28464586.

BMP type I receptor inhibition reduces heterotopic ossification

Paul B Yu, Donna Y Deng, Carol S Lai, Charles C Hong, Gregory D Cuny, Mary L Bouxsein, Deborah W Hong, Patrick M McManus, Takenobu Katagiri, Chetana Sachidanandan, Nobuhiro Kamiya, Tomokazu Fukuda, Yuji Mishina, Randall T Peterson, Kenneth D Bloch

Nat Med. Author manuscript; available in PMC 2010 Mar 29.

Published in final edited form as: Nat Med. 2008 Dec; 14(12): 1363–1369. Published online 2008 Nov 30. doi: 10.1038/nm.1888

Correction in:: volume 15 on page 117

PMCID:: PMC2846458

Abstract Article PDF–2.5M

Select item 26588877.

Novel Mutations in ACVR1 Result in Atypical Features in Two Fibrodysplasia Ossificans Progressiva Patients

Kirsten A. Petrie, Wen Hwa Lee, Alex N. Bullock, Jenny J. Pointon, Roger Smith, R. Graham G. Russell, Matthew A. Brown, B. Paul Wordsworth, James T. Triffitt

PLoS One. 2009; 4(3): e5005. Published online 2009 Mar 30. doi: 10.1371/journal.pone.0005005

PMCID:: PMC2658887

Abstract Article PDF–175K

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