A potential case of fibrodysplasia ossificans progressiva (FOP) lacking any mutations in ACVR1

被引:0
|
作者
Deffendall, Catherine [1 ]
Black, Margo [1 ]
Halpern, Jennifer [1 ]
Perrien, Daniel [2 ]
Dahir, Kathryn [1 ]
机构
[1] Vanderbilt Univ, Med Ctr, Nashville, TN USA
[2] Emory Univ, Atlanta, GA 30322 USA
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
FRI-069
引用
收藏
页码:15 / 16
页数:2
相关论文
共 50 条
  • [21] MUTATIONS IN ACVR1 THAT DRIVE LESS COMMON CASES OF FIBRODYSPLASIA OSSIFICANS PROGRESSIVA PERCEIVE ACTIVIN A AS AN AGONIST
    Idone, V.
    AlessiWolken, D. M.
    Kim, H. J.
    McClain, J.
    Corpina, R. A.
    Schoenherr, C. J.
    Della Gatta, G.
    Murphy, A. J.
    Hatsell, S. J.
    Economides, A. N.
    [J]. OSTEOPOROSIS INTERNATIONAL, 2016, 27 : S465 - S465
  • [22] The Fibrodysplasia Ossificans Progressiva (FOP) mutation p.R206H in ACVR1 confers an altered ligand response
    Hildebrand, Laura
    Stange, Katja
    Deichsel, Alexandra
    Gossen, Manfred
    Seemann, Petra
    [J]. CELLULAR SIGNALLING, 2017, 29 : 23 - 30
  • [23] An Acvr1[R258G] "Conditional On" Mouse Model of Atypical Fibrodysplasia Ossificans Progressiva (FOP) is Activin A dependent
    Hatsell, Sarah J.
    Huang, Lily
    Schoenherr, Chris
    Wang, Lili
    Wen, Xialing
    Mcclain, Joyce
    Idone, Vincent
    Nannuru, Kalyan C.
    Murphy, Andrew J.
    Economides, Aris N.
    [J]. JOURNAL OF BONE AND MINERAL RESEARCH, 2018, 33 : 196 - 196
  • [24] Fibrodysplasia ossificans progressiva mutant ACVR1 signals by multiple modalities in the developing zebrafish
    Allen, Robyn S.
    Tajer, Benjamin
    Shore, Eileen M.
    Mullins, Mary C.
    [J]. ELIFE, 2020, 9
  • [25] ACVR I Knock-In Mouse Model for Fibrodysplasia Ossificans Progressiva (FOP).
    Chakkalakal, S. A.
    Zhang, D.
    Raabe, T.
    Richa, J.
    Hankenson, K.
    Kaplan, F. S.
    Shore, E. M.
    [J]. JOURNAL OF BONE AND MINERAL RESEARCH, 2008, 23 : S57 - S57
  • [26] Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva
    Ilham Ratbi
    Renata Borcciadi
    Asmaa Regragui
    Roberto Ravazzolo
    Abdelaziz Sefiani
    [J]. Clinical Rheumatology, 2010, 29 : 119 - 121
  • [27] Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva
    Ratbi, Ilham
    Borcciadi, Renata
    Regragui, Asmaa
    Ravazzolo, Roberto
    Sefiani, Abdelaziz
    [J]. CLINICAL RHEUMATOLOGY, 2010, 29 (01) : 119 - 121
  • [28] Identification of the Identical Human Mutation in ACVR1 in 2 Cats With Fibrodysplasia Ossificans Progressiva
    Casal, Margret L.
    Engiles, Julie B.
    Pipan, Maja Zakosek
    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.
    [J]. VETERINARY PATHOLOGY, 2019, 56 (04) : 614 - 618
  • [29] Fibrodysplasia (myositis) ossificans progressiva (FOP)
    Ramirez-Gonzalez, Alfredo
    Castaneda-de-la-Fuente, Angelica
    Castro-Cervantes, Vladimir
    Pineda, Carlos
    Sandoval, Hugo
    Hidalgo-Bravo, Alberto
    [J]. CLINICAL RHEUMATOLOGY, 2022, 41 (06) : 1929 - 1930
  • [30] Fibrodysplasia Ossificans Progressiva(FOP)A Case Series.
    Almonaei, Khulod
    M'Hiri, Iman
    Dandurand, Karel
    Al-Ali, Dalal
    Syed, Hamza
    Khan, Aliya A.
    [J]. JOURNAL OF BONE AND MINERAL RESEARCH, 2022, 37 : 188 - 189