Shore Laboratory

Publications

Peer-Reviewed Manuscripts

Brewer, N., J.T. Fong, D. Zhang, G. Ramaswamy, and E.M. Shore (2021). GNAS inactivation alters subcutaneous tissues in progression to heterotopic ossification. Frontiers in Genetics 12:633206; Jan 2021; doi: 10.3389/fgene.2021.633206. PMID: 33574833; PMC7870717.

Towler, O.W., S.H. Peck, F.S. Kaplan, and E.M. Shore (2021). Dysregulated BMP signaling through ACVR1 impairs digit joint development in fibrodysplasia ossificans progressiva (FOP) Developmental Biology 470, 136-146. PMID: 33217406

Towler, O.W., F.S. Kaplan, and E.M. Shore (2020). The developmental phenotype of the great toe in fibrodysplasia ossificans progressive. Frontiers Cell Dev. Biol. 8:612853. doi: 10.3389/fcell.2020.612853. PMID: 33364240; PMCID: PMC7753048.

Allen, R.S., B. Tajer, E.M. Shore, and M.C. Mullins (2020). Fibrodysplasia ossificans progressiva mutant ACVR1 signals by multiple modalities in the developing zebrafish. eLife 9:e53761. PMID: 32897189; PMCID: PMC7478894. doi: https://doi.org/10.7554/eLife.53761

Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A. (2020). Recommendations for diagnosis and treatment of pseudohypoparathyroidism and related disorders: an updated practical tool for physicians and patients. Horm. Res. Paediatr. 93, 182-196. PMID: 32756064.

Towler, O.W., E.M. Shore, and F.S. Kaplan (2020). Skeletal malformations and developmental arthropathy in individuals who have fibrodysplasia ossificans progressiva. Bone 130, 115116. PMID: 31655222.

Alcausin, M.M.L.B., M.M.P. Baluyot, E.M. Shore, F.S. Kaplan (2020). Fibrodysplasia ossificans progressiva in three Filipino children. Acta Medica Philippina 54(4), 415-422.

Peck, S.H., J.W. Tobias, E.M. Shore, N. Malhotra, M.E. Haskins, M.L. Casal, L.J. Smith (2019). Molecular profiling of failed endochondral ossification in mucopolysaccharidosis VII. Bone 128, 115042.

Ware, A.D., N. Brewer, E. McCarthy, E.M. Shore, and A.W. James (2019). Differential vascularity in genetic and non-genetic heterotopic ossification. International J. Surg. Pathology 27(8), 859-867.

Stanley, A., S. Heo, R.L. Mauck, F. Moukioti, and E.M. Shore. Elevated BMP and mechanical signaling through YAP1/RhoA poises FOP mesenchymal progenitors for osteogenesis. J. Bone Miner. Res. 34(10), 1894-1909.

Casel, M., J.B. Engiles, M. Zakosek, A. Berkowitz, Y. Porat-Mosenco, W. Mai, K. Wurzburg, M. Xu, R. Allen, P.A. ODonnell, P.S. Henthorn, K. Thompson, E.M. Shore (2019). Identification of the identical human mutation in ACVR1 in two cats with fibrodysplasia ossificans progressiva. Vet Pathol. 56(4), 614-618.

Guvec, Z., V. Tasic, D. Plaseska-Karanfilska, M. Dimishkovska, N. Laban, Z. Bozinovski, M. Kostovski, A. Saveski, M. Polenakovic, O.W. Towler, E.M. Shore, F.S. Kaplan (2019). Severe digital malformations in a rare variant of fibrodysplasia ossificans progressiva. Amer. J. Med. Genet. 179A, 1310-1314.

Haupt, J. A. Stanley, C.M. McLeod, B.D. Cosgrove, A.L. Culbert, L. Wang, F. Mourkioti, R.L. Mauck, E.M. Shore (2019). ACVR1 R206H FOP mutation alters mechanosensing and tissue stiffness during heterotopic ossification. Molec. Biol. Cell. 30(1), 17-29.

Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A. (2018). Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement. Nat Rev Endocrinol. 14, 476-500.

Amalfitano, M., B. Fyfe, S.V. Thomas, K.P. Egan, M. Xu, A.G. Smith, F.S. Kaplan, E.M. Shore, and R.J. Pignolo (2018). A case report of mesenteric heterotopic ossification: Histopathologic and genetic findings. Bone 109, 56-60.

Mucha, B.E., M. Hashiguchi, J. Zinski, E.M. Shore, and M.C. Mullins (2018). Variant BMP receptor mutations causing fibrodysplasia ossificans progressiva (FOP) in humans show BMP ligand-independent receptor activation in zebrafish. Bone 109, 225-231.

Ramaswamy, G., J. Fong, N. Brewer, H. Kim, D. Zhang, Y. Choi, F.S. Kaplan, and E.M. Shore (2018). Ablation of Gsa signaling in osteoclast progenitor cells adversely affects skeletal bone maintenance. Bone 109, 86-90.

Wang, H., E.M. Shore, R.J. Pignolo, and F.S. Kaplan (2018). Activin A amplifies dysregulated BMP signaling and induces chondro-osseous differentiation of primary connective tissue progenitor cells in patients with fibrodysplasia ossificans progressiva (FOP). Bone 109, 218-224.

Haupt, J., M. Xu, and E.M. Shore (2018). Variable signaling activity by FOP ACVR1 mutations. Bone 109, 232-240.

Convente, M.R., S.A. Chakkalakal, E. Yang, R.J. Caron, D. Zhang, T. Kambayashi, F.S. Kaplan, and E.M. Shore (2018). Depletion of mast cells and macrophages impairs heterotopic ossification in an Acvr1R206H mouse model of fibrodysplasia ossificans progressiva. J. Bone Miner. Res. 33(2), 269-282.

Loro, E., G. Ramaswamy, A. Chandra, W-J. Tseng, M.K. Mishra, E.M. Shore and T.S. Khurana (2017). IL15ra is required for osteoblast function and bone mineralization. Bone 103. 20-30.

Towler, O.W., E.M. Shore, M. Xu, A. Bamford, I. Anderson, R.J. Pignolo, and F.S. Kaplan (2017). The Congenital Great Toe Malformation of Fibrodysplasia Ossificans Progressiva? - A Close Call. Eur. J. Med. Genet. 60, 399-402.

Ramaswamy, G., H. Kim, D. Zhang, V. Lounev, J.Y. Wu, Y. Choi, F.S. Kaplan, R.J. Pignolo, and E.M. Shore (2017). Gsα Controls Cortical Bone Quality by Regulating Osteoclast Differentiation via cAMP/PKA and β-Catenin Pathways. Scientific Reports 7, 45140.

Rajapakse, C.S., Lindborg, C., Wang, H., Newman, B.T., Kobe, E.A., Shore, E.M., Kaplan, F.S., and Pignolo, R.J (2017). Analogue Method for Radiographic Assessment of Heterotopic Bone in Fibrodysplasia Ossificans Progressiva. Academic Radiology 24, 321-327.

Pang, J., Y. Zuo, Y. Chen, L. Song, Q. Zhu, J. Yu, C. Shan, Z. Cai, J. Hao, F.S. Kaplan, E.M. Shore, K. Zhang (2016). ACVR1-Fc Suppresses BMP Signaling and Chondro-osseous Differentiation in an in vitro Model of Fibrodysplasia Ossificans Progressiva. Bone 92, 29-36.

Wang, H., C. Lindborg, J-H. Kim, R. McCarrick-Walmsley, L. Mangiavini, J. Groppe, E.M. Shore, E. Schipani, F.S. Kaplan, and R.J. Pignolo (2016). Targeting the response to cellular hypoxia diminishes heterotopic ossification by normalizing BMP signaling. J. Bone Miner. Res. 31 (9), 1652-1665.

Chakkalakal, S.A., K. Uchibe, M. Convente, D. Zhang, A. Economides, F.S. Kaplan, M. Pacifici, M. Iwamoto, E.M. Shore (2016). Palovarotene inhibits heterotopic ossification and maintains limb mobility and growth in mice with the human ACVR1R206H FOP mutation. J. Bone Miner. Res. 31(9), 1666-1675.

Pignolo, R.J., C. Bedford-Gay, M. Liljesthrom, E.M. Shore, D.M. Rocke, and F.S. Kaplan (2016). The natural history of flare-ups in fibrodysplasia ossificans progrressiva (FOP): a comprehensive global assessment. J. Bone Miner. Res. 31(3), 650-656.

Peck, S.H., P.J. O’Donnell, J.L. Kang, N.R. Malhotra, G.R. Dodge, M. Pacifici, E.M. Shore, M.E. Haskins, L.J. Smith (2015). Delayed hypertrophic differentiation of epiphyseal chondrocytes contributes to failed secondary ossification in mucopolysaccharidosis VII dogs. Mol. Genet. Metab. 116, 195-203.

Kaplan, F.S., J.A. Kobori, C. Orellana, I. Calvo, M. Rosella, F. Martinez, B. Lopez, M. Xu, R.J. Pignolo, E.M. Shore, J.C. Groppe (2015). Multi-system involvement in a severe variant of fibrodysplasia ossificans progressive (ACVR1 c.772G>A; R258G): a report of two patients. Amer. J. Med. Genet. 167A, 2265-2271.

Bravenboer, N, D. Micha, J. Triffitt, A. Bullock, R. Ravazollo, R. Bocciardi, M. DiRocco, J. Netelenbos, P. ten Dijke, G. Sanchez-Duffhues, F. Kaplan, E. Shore, R. Pignolo, P. Seemann, F. Ventura Pujol, G. Beaujat, M. Eekhoff, G. Pals. (2015). Clinical utility gene card for fibrodysplasia ossificans progressiva. Eur. J. Hum. Genet. e1-e3.

Shulman, R. Ellis, J., Shore, E., Kaplan, F.S., Badell, M. (2015). Maternal genetic skeletal disorder: Lessons learned from cases of maternal osteogenesis imperfect and fibrodysplasia ossificans progressive. J. Clin. Gynecol. Obstet. 4(1), 184-187.

Chiaro, J.A., O’Donnell, P., Shore, E.M., Malhotra, N.R., Ponder, K.P., Haskins, M.E., and Smith, L.J. (2014). Effects of neonatal enzyme replacement therapy and simvastin treatment on cervical spine disease in mucopolysaccharidosis I dogs. J. Bone Miner. Res. 29, 2610-2617.

Haupt, J., Deichsel, A., Stange, K., Ast, C., Bocciardi, R. Ravazzolo, R., DiRocco, M., Ferrari, P., Landi, A., Kaplan, F.S., Shore, E.M., Reissner, C., and Seemann, P. (2014). ACVR1 p.Q207E causes classic fibrodysplasia ossifcans progressiva and is functionally distinct from the

engineered constitutively active ACVR1 p.Q207D variant. Human Molecular Genetics 23(20), 5364-5377.

Culbert, A.L., S.A. Chakkalakal, E. Theosmy, T.A. Brennan, F.S. Kaplan, and E.M. Shore (2014). Alk2 regulates early chondrogenic fate in FOP heterotopic endochondral ossification. Stem Cells 32, 1289-1300.

Zhang, W., K. Zhang, L. Song, J. Pang, H. Ma, E.M. Shore, F.S. Kaplan and P. Wang (2013). The phenotype and genotype of fibrodysplasia ossificans progressiva in China: a report of 72 cases. Bone 57, 386-391.

Regard, J.B., D. Malhotra, J. Gvozdenovic-Jeremic, M. Josey, M. Chen, L.S. Weinstein, E.M. Shore, F.S. Kaplan, and Y. Yang (2013). Activation of Hedgehog signaling by loss of GNAS causes heterotopic ossification. Nature Medicine 19, 1505-1512.

Cairns, D.M., R.J. Pignolo, T. Uchimura, T.A. Brennan, C.M. Lindborg, M. Xu, F.S. Kaplan, E.M. Shore, and L. Zeng (2013). Somitic disruption of GNAS in chick embryos mimics progressive osseous heteroplasia. J. Clinical Invest 123, 3624-3633.

Chiaro JA, Baron MA, Alcazar CD, O’Donnell P, Shore EM, Elliott DM, Ponder KP, Haskins ME, Smith LJ. (2013). Postnatal progression of bone disease in the cervical spines of mucopolysaccharidosis I dogs. Bone. 55:78-83.

La Sala, L.F., L.M. Pozzi, D. McAloose, F.S. Kaplan, E.M. Shore, E.J.O. Kompanje, I.F. Sidor, L. Musmeci, M.M. Uhart (2012). Severe soft tissue ossification in a southern right whale (Eubalaena australis). Diseases of Aquatic Organisms 102, 149-156.

Zhang, S. F.S. Kaplan, E.M. Shore (2012). Different roles of Gnas and cAMP signaling during early and late stages of osteogenic differentiation. Hormone Metab. Res. 44, 724-731.

Kan, L., J.A. Kitterman, D. Procissi, S. Chakkalakal, C.Y. Peng, T.L. McGuire, R.E. Goldsby, R.J. Pignolo, E.M. Shore, F.S. Kaplan, and J.A. Kessler (2012). CNS demyelination in fibrodysplasia ossificans progressiva. J. Neurol. 259, 2644-2655.

Kitterman, J.A., J.B. Strober, L. Kan, D.M. Rocke, A. Cali, J. Peeper, J. Snow, P.L.R. Delai, R. Morhart, R.J. Pignolo, E. M. Shore, F.S. Kaplan (2102) Neurological symptoms in individuals with fibrodysplasia ossificans progressiva. J. Neurol. 259, 2636-2643.

Zimmer J., S.C. Doelken, D. Horn, J.C. Groppe, E.M. Shore, F.S. Kaplan, P. Seemann (2012). Functional Analysis of Alleged NOGGIN Mutation G92E Disproves Its Pathogenic Relevance. PLoS One. 2012;7(4):e35062.

Hammond, P., M. Suttie, R.C. Hennekam, J. Allanson, E.M. Shore, F.S. Kaplan (2012). The Face Signature of Fibrodysplasia Ossificans Progressiva. Am J. Med. Genet. 158A, 1368-1380.

Chakkalakal, S. A., D. Zhang, A.L. Culbert, M.R. Convente, R.J. Caron, A.C. Wright, A.D.A. Maidment, F.S. Kaplan, and E.M. Shore (2012). An Acvr1 R206H knock-in mouse has fibrodysplasia ossificans progressiva. J. Bone Min. Res. 27(8), 1746-1756.

Liu, J., E. Russell, D. Zhang, F.S. Kaplan, R.J. Pignolo, and E.M. Shore (2012). Paternally inherited Gsa mutation impairs adipogenesis and potentiates a lean phenotype in vivo. Stem Cells 30, 1477-1485.

Muglu, J.A., A. Garg, T. Pandiarajan, E.M. Shore, F.S. Kaplan, D. Uchil, and M.J. Dickson (2012). Pregnancy in fibrodysplasia ossificans progressiva. Obstet. Med. 5, 35-38.

Kaplan, J., F.S. Kaplan, and E.M. Shore (2012). Restoration of normal BMP signaling levels and osteogenic differentiation in FOP mesenchymal progenitor cells by mutant allele-specific targeting. Gene Therapy 19(7), 786-790.

Kan, L., V.Y. Lounev, R.J. Pignolo, L. Duan, Y. Liu, S.R. Stock, T.L. McGuire, B. Lu, N.P. Gerard, E.M. Shore, F.S. Kaplan and J.A. Kessler (2011). Substance P signaling mediates BMP-dependent heterotopic ossification. J. Cellular Biochemistry 112(10), 2759-2772.

Pignolo, R.J., M. Xu, E. Russell, A. Richardson, J. Kaplan, P.C. Billings, F.S. Kaplan, E.M. Shore (2011). Heterozygous inactivation of Gnas confers enhanced osteogenic differentiation and formation of heterotopic ossification. J. Bone Min. Res. 26, 2647-2655.

Groppe, J.C., J. Wu, E.M. Shore, F.S. Kaplan (2011). In vitro analysis of the Dysregulated R206H ALK2 kinase-FKBP12 interaction associated with heterotopic ossification in FOP. Cell Tissues Organs 194:291–295.

Medici, D., E.M. Shore, V.Y. Lounev, F.S. Kaplan, R. Kalluri, and B.R. Olsen (2010). Conversion of vascular endothelial cells into multipotent stem-like cells. Nature Medicine 16(12), 1400-1406.

Kartal-Kaess, M. E.M. Shore, M. Xu, L. Schwering, M. Uhl, R. Korinthenberg, C. Niemeyer, F.S. Kaplan, M. Lauten (2010). Brief Report: Fibrodysplasia ossificans progressiva (FOP): Watch the great toes! European Journal of Pediatrics 169, 1417-1421.

Schimmel, R.J., S.G.M.A. Pasmans, M. Xu, S.A.E. Stadhouders-Keet, E.M. Shore, F.S. Kaplan, N.M. Wulffraat (2010). GNAS-associated disorders of cutaneous ossification: two different clinical presentations. Bone 46(3), 868-872.

Kaplan, F.S., M.A. Zasloff, J.A. Kitterman, E.M. Shore, C.C. Hong, D. Rocke (2010). Early Mortality from cardiorespiratory failure in patients with fibrodysplasia ossificans progressiva. J. Bone Joint Surg. (Am) 92(3), 686-691.

Shen, Q., S.C. Little, M. Xu, J. Haupt, C. Ast, T. Katagiri, S. Mundlos, P. Seemann, F.S. Kaplan, M.C. Mullins, E.M. Shore (2009). Fibrodysplasia ossifcans progressiva ACVR1 R206H mutation activates BMP-independent chondrogenesis and ventralization of zebrafish embryos. J. Clin. Invest. 119, 3462-3472.

Suda, R.K., P.C. Billings, K.P. Egan, J.H. Kim, R. McCarrick-Walmsley, D.L. Glaser, D.L. Porter, E.M. Shore, R.J. Pignolo. (2009). Circulating osteogenic precursor cells in heterotopic bone formation. Stem Cells 27, 2209-2219.

Lounev, V.Y., R. Ramachandran, M.N. Wosczyna, M. Yananoto, A.D.A. Maidment, E.M. Shore, D.L. Glaser, D.J. Goldhamer, F.S. Kaplan (2009). Identification of progenitor cells that contribute to heterotopic skeletogenesis. J. Bone Joint Surg. 91, 652-663.

Huang, A.H., N.A. Motlekar, A. Stein, S.L. Diamond, E.M. Shore, R.L. Mauck (2008). High-throughput screening for modulators of mesenchymal stem cell chondrogenesis. Annals of Biomedical Engineering 36, 1909-1921.

Fukuda, T, M. Kohda, K. Kanomata, J. Nojima, A. Nakamura, J. Kamizono, Y. Noguchi, K. Iwakiri, T. Kondo, J. Kurose, K. Endo, T. Awakura, J. Fukushi, Y. Nakashima, T. Chiyonobu, A. Kawara, Y. Nishida, I. Wada, M. Akita, T. Komori, K. Nakayama, A. Nanba, Y. Maruki, T. Yoda, H. Tomoda, P.B. Yu, E.M. Shore, F.S. Kaplan, K. Miyazono, M. Matsuoka, K. Ikebuchi, A. Ohtake, H. Oda, E. Jimi, I. Owan, Y. Okazaki, and T. Katagiri (2009). Constitutively activated ALK2 and increased smad1/5 cooperatively induce BMP signaling in fibrodysplasia ossificans progressiva. J. Biol. Chem. 284, 7149-7156.

Kaplan, F.S., M. Xu, P. Seemann, J. M. Connor, D.L. Glaser, L. Carroll, P. Delai, E. Fastnacht-Urban, S.J. Forman, G. Gillessen-Kaesbach, J. Hoover-Fong, B. Köster, R.M. Pauli, W. Reardon, S-A. Zaidi, M. Zasloff, R. Morhart, S. Mundlos, J. Groppe, E.M. Shore (2009). Classic and Atypical FOP Phenotypes are Caused by Mutations in the BMP Type I Receptor ACVR1. Human Mutation 30, 379-390.

Moore, R.E., J.P. Dormans, D.S. Drummond, E.M. Shore, F.S. Kaplan, J.D. Auerbach (2008). Chin-on-chest deformity in patients with fibrodysplasia ossificans progressiva. J. Bone Joint Surg. (Am) 91, 1497-1502.

Adegbite, N.S, M. Xu, F.S. Kaplan, E.M. Shore, R.J. Pignolo (2008). Clinical features, GNAS mutational analysis, and diagnostic criteria for progressive osseous heteroplasia (POH) and POH-like syndromes. Amer. J. Med. Genet. 146A(14): 1788-1796.

Kaplan, F.S., M. Xu, D.L. Glaser, F. Collins, J.M. Connor, J. Kitterman, D. Sillence, E. Zackai, V. Ravitsky, M. Zasloff, A. Ganguly, E.M. Shore (2008). Early diagnosis of fibrodysplasia ossificans progressiva (FOP). Pediatrics 121(5): e1295-1300.

Billings P.C., J.L. Fiori, J.L. Bentwood, M.P. O’Connell, X. Jaio. B. Nussbaum, R.J. Caron, E.M. Shore, F.S. Kaplan (2008). Dysregulated BMP signaling and enhanced osteogenic differentiation of connective tissue progenitor cells from patients with fibrodysplasia ossificans progressiva (FOP). J. Bone Min. Res. 23 (3), 305-313.

Deirmengian G.K., N.M. Hebela, M. O’Connell, E.M. Shore, D.L. Glaser, and F.S. Kaplan (2008). Proximal tibial osteochondroma in patients with fibrodysplasia ossificans progressiva. J. Bone Joint Surg. 90, 366-374.

Zaghloul K.A., G.G. Heuer, M.D. Guttenberg, E.M. Shore, F.S. Kaplan, and P.B. Storm (2008). Lumbar puncture and surgical intervention in a child with undiagnosed fibrodysplasia ossificans progressiva. J. Neurosurgery: Pediatrics 1(1), 91-94.

O’Connell, M.P., P.C. Billings, J.L. Fiori, G. Deirmengian, H.I. Roach, E.M. Shore, F.S. Kaplan (2007). Heparan sulfate proteoglycan modulation of BMP signaling is altered in fibrodysplasia ossificans progressiva. J. Cell. Biochem. 102 (6), 1493-1503.

Groppe, J.C, E.M. Shore, F.S. Kaplan (2007). Functional modeling of the ACVR1 (R206H) mutation in FOP. Clinical Orthopaedics and Related Research 462, 87-92.

Kaplan, F.S, D.L. Glaser, R.J. Pignolo, E.M. Shore (2007). A new era in heterotopic ossification: A druggable target for the second skeleton. Expert Opinion in Biological Therapy 7(5), 705-712.

Gelfand, I., R.S. Hub, E.M. Shore, F.S, Kaplan, L.A. DiMeglio (2007). Progressive Osseous Heteroplasia-Like Heterotopic Ossification in a Male Infant with Pseudohypoparathyroidism Type Ia: A Case Report. Bone 40, 1425-1428.

Feldman, G.J., R.V. Patel, P.C. Billings, R.J. Caron, C. Guenther, D.M. Kingsley, F.S. Kaplan, E.M. Shore (2007). Over-expression of BMP4 and BMP5 in a child with axial skeletal malformations and heterotopic ossification: A new syndrome. Amer. J. Med. Genet. Part A. 143A, 699-706.

Yeon, H., F.S. Kaplan, E.M. Shore, A.E. Rosenberg, J. Jupiter (2007). Focal nodular heterotopic ossification: a new syndrome. J. Bone Joint Surg Am. 89(6): 1329-1336.

Kaplan, F.S. D.L. Glaser, E.M. Shore, R.J. Pignolo, M. Xu, Y. Zhang, D. Senitzer, S.J. Forman, S.G. Emerson (2007). Hematopoietic Stem Cell Contribution to Ectopic Skeletogenesis. J. Bone Joint Surg (Am) 89A (2), 347-357.

Jiao, X., F.S. Kaplan, P. Billings, E.M. Shore, D. Glaser (2007). Heparan sulfate proteoglycans (HSPGs) modulate BMP2 osteogenic bioactivity in C2C12 cells. J. Biol. Chem. 282(2), 1080-1086.

Shore, E.M., M. Xu, G.J. Feldman, D.A. Fenstermacher, The FOP International Research Consortium, M.A. Brown, and F.S. Kaplan (2006). A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nature Genetics 38(5), 525-527.

Fiori, J.L., P.C. Billings, L. Serrano de la Pena, F.S. Kaplan, and E.M. Shore (2006). Dysregulation of the BMP-p38 MAPK signaling pathway in fibrodysplasia ossificans progressiva (FOP) patients. J. Bone Mineral Res. 21 (6): 902-909.

Billings, P.C., Y. Wu, R. Caron, L. Serrano de la Pena, B. Young, M. Pacifici, D.L. Glaser, E.M. Shore, and F.S. Kaplan. (2005). Early fibrodysplasia ossificans progressiva-like lesion formation in nude mice following implantation of lymphoblastoid cells from FOP patients. Clinical Reviews in Bone and Mineral Metabolism: 3: (3-4), 225-228.

Kaplan, F.S., D. Hume, A. Westermark, and E.M. Shore (2005). The craniofacial phenotype of fibrodysplasia ossificans progressiva. Clinical Reviews in Bone and Mineral Metabolism: 3: (3-4), 209-212.

Hebela, N., E.M. Shore, and F.S. Kaplan (2005). Three pairs of monozygotic twins with fibrodysplasia ossificans progressiva. Clinical Reviews in Bone and Mineral Metabolism: 3: (3-4), 205-208.

Serrano de la Pena, L., P.C. Billings, J.L. Fiori, F.S. Kaplan, E.M. Shore. Fibrodysplasia ossificans progressiva (FOP), a disorder of ectopic osteogenesis, misregulates cell surface expression and trafficking of BMPRIA. J. Bone Min. Res. 20, 1168-1176.

Schaffer, A.A., F.S. Kaplan, M.R. Tracy, M.L. O’Brien, J.P. Dormans, E.M. Shore, R.M. Harland, K. Kusumi (2004). Developmental anomalies of the cervical spine in patients with fibrodysplasia ossificans progressiva: clues from the BMP signaling pathway. Spine 30, 1379-1385.

Scarlett, R.F., D.M. Rocke, S. Kantanie, J.B. Patel, E.M. Shore, and F.S. Kaplan (2004). Influenza-like viral illnesses and flare-ups of fibrodysplasia ossificans progressiva. Clin. Ortho. Rel. Res. 423, 275-279.

Glaser, D.L., A.N. Economides, L. Wang, X. Liu, R. Kimble, J.P. Fandl, J.M. Wilson, N. Stahl, F.S. Kaplan, E.M. Shore (2003). In Vivo Somatic Cell Gene Transfer of an Engineered Noggin Mutein Prevents BMP4-Induced Heterotopic Ossification in the Mouse. JBJS 85-A (12), 2332-2342.

Hegyi, L., Gannon F.H., Glaser D.L., Shore E.M., Kaplan F.S., Shanahan C.M. (2003) Stromal cells of fibrodysplasia ossificans progressiva lesions express smooth muscle lineage markers and the osteogenic transcription factor Runx2/Cbfa-1: Clues to a vascular origin of heterotopic ossification? J. Pathology 201, 141-148.

Ahn, J., L. Serrano de la Pena. E.M. Shore and F.S. Kaplan (2003). Paresis of a bone morphogenetic protein antagonist response in a genetic disorder of heterotopic skeletogenesis. J. Bone Joint Surg.85-A (4), 667-674.

Faust, R.A., E.M. Shore, C.E. Stevens, M. Xu, S. Shah, C.D. Phillips, and F.S. Kaplan (2003). Progressive osseous heteroplasia in the face of a child. Amer. J. Med. Genet. 118A, 71-75.

Olmsted, E.A., F.S. Kaplan, and E.M. Shore (2003). Bone morphogenetic protein 4 regulation in fibrodysplasia ossificans progressiva. Clin. Ortho. Rel. Res. 408, 331-343.

Ahn, J., G. Feldman, L. Terry, E.M. Shore, F.S. Kaplan (2003). Exoneration of NF-kB dysregulation in fibrodysplasia ossificans progressiva. Clin. Orthop. Rel. Res. 406, 205-213.

Shore, E.M., J. Ahn, S.M. Jan de Beur, M. Li, M. Xu, R.J. McKinlay Gardner, M.A. Zasloff, M.P. Whyte, M.A. Levine, and F.S. Kaplan (2002). Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. N. Eng. J. Med. 346, 99-106.

Gannon, F.H., D. Glaser, R. Caron, L.D.R. Thompson, E.M. Shore, and F.S. Kaplan (2001). Mast cell involvement in fibrodysplasia ossificans progressiva. Human Pathology 32(8), 842-848.

Mahboubi S., D.L. Glaser, E.M. Shore, and F.S. Kaplan (2001). Fibrodysplasia ossificans progressiva. Pediatric Radiology 31(5), 307-314.

Eddy, M.C., S.M. Jan de Beur, S.M. Yandow, W.H. McAlister, E.M. Shore, C. d'Amato, C.H. Meyers-Seifert, F.S. Kaplan, M.P. Whyte, and M.A. Levine (2000). Deficiency of the a-subunit of the stimulatory G protein and severe extraskeletal ossification. J. Bone Min. Res. 15, 2074-2083.

Yeh, G., S. Mathur, A. Wivel, M. Li, F.H. Gannon, A. Ulied, L. Audi, E.A. Olmsted, F.S. Kaplan and E.M. Shore (2000). GNAS1 mutation and Cbfa1 misexpression in a child with severe congenital plate-like osteoma cutis. J. Bone Min. Res. 15, 2063-2073.

Xu, M-q., G. Feldman, M. LeMerrer, Y. Yao Shugart, D.L. Glaser, J.A. Urtizberea, M. Fardeau, J.M. Connor, J. Triffitt, R. Smith, E.M. Shore, F.S. Kaplan (2000). Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP). Clinical Genetics 58, 291-298.

Feldman, G., M. Li, S. Martin, M. Urbanek, J.A. Urtizberea, M. LeMerrer, J.M. Connor, J. Triffitt, R. Smith, M. Muenke, F.S. Kaplan, E.M. Shore (2000). Fibrodysplasia ossificans progressiva, a disorder of severe heterotopic ossification maps to human chromosome 4q27-31. Amer. J. Hum. Genet. 66, 128-135.

Virdi, A.S., E.M. Shore, R.O.C. Oreffo, M. Li, J.M. Connor, R. Smith, F.S. Kaplan, and J.T. Triffit (1999). Phenotypic and molecular heterogeneity in fibrodysplasia ossificans progressiva. Calcified Tissue Intl. 65, 250-255.

Kaplan, F.S., and E.M. Shore (1998). The Encrypted Morphogens of Skeletogenesis: Biological Errors and Pharmacologic Potentials. Biochemical Pharmacology 55, 373-382.

Shore, E.M., M-q. Xu, P.B. Shah, H.B. Janoff, G.V. Hahn, M.A. Deardorff, L. Sovinsky, N.B. Spinner, M.A. Zasloff, J.M. Wozney, and F.S. Kaplan (1998). The human bone morphogenetic protein 4 (BMP-4) gene: Molecular structure and transcriptional regulation. Calcif. Tissue Intl. 63, 221-229.

Xu, M-q. and E.M. Shore (1998). Mutational screening of the bone morphogenetic protein-4 gene in a family with fibrodysplasia ossificans progressiva. Clin. Ortho. Rel. Res. 346, 53-58.

Calvert, G.C. and E.M. Shore (1998). The HLA-B27 allele is not correlated with fibrodysplasia ossificans progressiva. Clin. Ortho. Rel. Res. 346, 66-70.

Lanchoney, T.F., E.A. Olmsted, E.M. Shore, F.A. Gannon, V. Rosen, M.A. Zasloff, and F.S. Kaplan (1998). Characterization of bone morphogenetic protein-4 receptors in fibrodysplasia ossificans progressiva. Clin. Ortho. Rel. Res. 346, 38-45.

Olmsted, E.A., F.H. Gannon, Z-Q. Wang, A.E. Grigoriadis, E.F. Wagner, M.A. Zasloff, E.M. Shore, and F.S. Kaplan (1998). Embryonic over-expression of the c-fos proto-oncogene: A murine stem cell chimera applicable to the study of fibrodysplasia ossificans progressiva in humans. Clin. Ortho. Rel. Res. 346, 81-94.

Gannon, F.H., B.A. Valentine, E.M. Shore, M.A. Zasloff, and F.S. Kaplan (1998). Acute lymphocytic infiltration in an extremely early lesion of fibrodysplasia ossificans progressiva. Clin. Ortho. Rel. Res. 346, 19-25.

Kaplan, F., J. Sawyer, S. Connors, K. Keough, E. Shore, F. Gannon, D. Glaser, D. Rocke, M. Zasloff, and J. Folkman (1998). Urinary basic fibroblast growth factor: A biochemical marker and potential therapeutic target for pre-osseous fibroproliferative lesions in patients who have fibrodysplasia ossificans progressiva. Clin. Ortho. Rel. Res. 346, 59-65.

Gannon, F.H., F.S. Kaplan, E.M. Shore, M.A. Zasloff, and F.H. Epstein (1997). Recombinant human bone morphogenetic protein 2 (BMP-2) stimulates a dermal osteogenic wound response in the skate but not in the shark: an early vertebrate clue to the formation of a dermal exoskeleton in children with progressive osseous heteroplasia. Bulletin of the Mount Desert Island Biological Laboratory 36, 14-16.

Gannon, F., F. Kaplan, E. Olmsted, G. Finkel, M. Zasloff and E. Shore (1997). Bone morphogenetic protein 2/4 in early fibromatous lesions of fibrodysplasia ossificans progressiva. Human Pathol. 28, 339-343.

Moriatis, J.M.; Gannon, F.H.; Shore, E.M.; Bilker, W.; Zasloff, M.A.; and Kaplan, F.S. (1997). Limb swelling in patients who have fibrodysplasia ossificans progressiva. Clin. Ortho. Rel. Res. 336, 247-253.

Shafritz, A.B., E.M. Shore, F.H. Gannon, M.A. Zasloff, R. Taub, M. Muenke, and F.S. Kaplan (1996). Over-expression of an osteogenic morphogen in cells from patients who form an ectopic skeleton. N. Engl. J. Med. 335, 555-561.

Janoff, H.B., M. Muenke, L.O. Johnson, A. Rosenberg, E.M. Shore, E. Okereke, M. Zasloff, and F.S. Kaplan (1996). Fibrodysplasia ossificans progressiva in two half-sisters. Evidence for maternal mosaicism. Amer. J. Med. Genet. 61, 320-324.

Shore, E.M. and F.S. Kaplan (1995). Molecular biology for the clinician. Part II. Tools of molecular biology. Clin. Ortho. Rel. Res. 320, 247-278.

Janoff, H.B., J.A. Tabas, E.M. Shore, M. Muenke, M.K. Dalinka, S. Schlesinger, M.A. Zasloff, and F.S. Kaplan (1995). Mild expression of fibrodysplasia ossificans progressiva. J. Rheumatology 22, 976-978.

Shore, E.M., A.L. Cook, G.V. Hahn, F.S. Kaplan, J.M. Wozney, M.J. Wagner, and D.E. Wells (1995). BMP-1 sublocalization on human chromosome 8: molecular anatomy and orthopaedic implications. Clin. Ortho. Rel. Res. 311, 199-209.

Shore, E.M. and F.S. Kaplan (1994). Glossary for "Human Pax gene expression and development of the vertebral column," by Smith, C.A. and Tuan, R.S. Clin. Ortho. Rel. Res. 302, 239-240.

Hahn, G. V., R. B. Cohen, J. M. Wozney, C. L. Levitz, E. M. Shore, M. A. Zasloff, and F. S. Kaplan (1992). A bone morphogenetic protein subfamily: Chromosomal localization of human genes for BMP5, BMP6, and BMP7. Genomics 14, 759-762.

Shore, E. M. and W. J. Nelson (1991). Biosynthesis of the cell adhesion molecule uvomorulin in Madin-Darby canine kidney epithelial cells. J. Biol. Chem. 266, 19672-19680.

Nelson, W. J., E. M. Shore, A. Z. Wang, and R. W. Hammerton (1990). Identification of a membrane-cytoskeletal complex containing the cell adhesion molecule uvomorulin (E-cadherin), ankyrin, and fodrin in Madin-Darby canine kidney epithelial cells. J. Cell Biol. 110, 349-357.

Shore, E. M. and G. M. Guild (1987). Closely linked DNA elements control the expression of the Sgs-5 glue protein gene in Drosophila. Genes and Develop. 1, 829-839.

Shore, E. M. and G. M. Guild (1986). Larval salivary gland secretion proteins in Drosophila. Structural analysis of the Sgs-5 gene. J. Molec. Biol. 190, 149-158.

Guild, G. M. and E. M. Shore (1984). Larval salivary gland secretion proteins in Drosophila. Identification and characterization of the Sgs-5 structural gene. J. Molec. Biol. 179, 289-314.

 

Selected Reviews and Chapters

Kaplan, F.S., M. Al Mukaddam, A. Stanley, O.W. Towler, and E.M. Shore (2020). Fibrodysplasia ossificans progressive (FOP): a disorder of osteochondrogenesis. Bone 140, 115539.

Shore, E.M. and M. Pacifici (2019). JBMR Plus Rare Bone Disease Special Issue Introduction. JBMR Plus 3(8), e10202

Kaplan FS, Al Mukaddam M, Baujat G, Brown M, Cali A, Cho T-J, Crowe C, De Cunto C, Delai P, Diecidue R, Di Rocco M, Eekhoff EMW, Friedman C, Grunwald Z, Haga N, Hsiao E, Keen R, Kitterman J, Levy C, Morhart R, Netelenbos C, Scott C, Shore EM, Zasloff M, Zhang K, Pignolo R., and the International Clinical Council on FOP (2019). Medical management of fibrodysplasia ossificans progressiva: Current treatment considerations. F.S. Kaplan F.S. and R.J. Pignolo (eds.), Proc. Intl. Clin. Council FOP 1, 1-109.

Chakkalakal, S.A. and E.M. Shore (2019). Heterotopic ossification in mouse models of heterotopic ossification. In: Methods Molec Biology: Bone Morphogenetic Proteins Methods and Protocols. Melissa B. Rogers, Editor. Human Press, Springer, NY, NY. Chapter 18, p 247-255.

Kaplan, F.S., R.J. Pignolo, M. Al Mukaddam, and E.M. Shore (2019). Genetic Disorders of Heterotopic Ossification: Fibrodysplasia Ossificans Progressiva and Progressive Osseous Heteroplasia. In: Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, Ninth Edition. John Bilezikian, Editor. ASBMR, Washington, DC. Chapter 112; pp. 1719-1729.

Stanley, A., E.M. Shore, and F. Moukioti. (2019). Defining Skeletal Muscle Progenitors. Reference Module in Biomedical Sciences. ISBN: 9780128012383; DOI: 10.1016/B978-0-12-801238-3.65471-5. Elsevier.

Convente, M.R., R.S. Allen, N.S. Brewer, A.K. Stanley, O.W. Towler, F.S. Kaplan, and E.M. Shore (2018) Fibrodysplasia (Myositis) Ossificans Progressiva, Chapter 30, pp. 523-545. Genetics of Bone Biology and Skeletal Disease, 2nd Edition. Editors: R.V. Thakker, M.P. Whyte, J.A. Eisman, and T. Igarashi.

Kaplan, F.S., R.J. Pignolo, M.M. Al Mukaddam, and E.M. Shore (2017). Hard targets for a second skeleton: therapeutic horizons for fibrodysplasia ossificans progressive (FOP). Expert Opinion on Orphan Drugs 5, 291-294.

Shore, E.M. and F.S. Kaplan (2017). BMP Signaling in Fibrodysplasia Ossificans Progressiva, a Rare Genetic Disorder of Heterotopic Ossification, pp. 327-343. In: Bone Morphogenetic Proteins: Systems Biology Regulators Editors: Kuber Sampath and Slobodan Vukicevic. Springer.

MacFarlane, E.G., J. Haupt, H.C. Dietz, E.M. Shore (2017). TGFb signaling in connective tissue and skeletal diseases. In: The Biology of the TGFb Family, pp. 959-999. R. Derynck and K. Miyazono, Editors. Cold Spring Harbor Perspectives in Biology. doi:10.1101/cshperspedt.a022269

Pacifici, M. and E.M. Shore (2016). Common mutations in ALK2/ACVR1, a multi-faceted receptor, have roles in distinct pediatric musculoskeletal and neural disorders. Cyotkine and Growth Factor Reviews 27, 93-104.

Kaplan, F.S., R.J. Pignolo, and E.M. Shore (2016). Granting immunity to FOP and catching heterotopic ossification in the act. Seminars in Cell and Developmental Biology 49, 30-36.

Kaplan, F.S., Towler, O.W., and Shore, E.M. (2016). ACVR1 and fibrodysplasia ossificans progressiva. Epstein’s Inborn Errors of Development: The Molecular Basis of Clinical Disorders (3rd ed.), Chapter 56. Editors: R.P. Erickson and A.J. Wynshaw-Boris. Oxford University Press. Oxford Medicine Online.

Convente, M.R., Wang, H., Pignolo, R.J., Kaplan, F.S., and Shore, E.M. (2015). The immunological contribution to heterotopic ossification disorders. Curr. Osteoporos. Rep. 13, 116-124.

Duncan, E., M. Brown, and E.M. Shore (2014). The revolution in human monogenic disease mapping. Genes 5, 792-803.

Kaplan, F.S., R.J. Pignolo, and E.M. Shore (2013). Fibrodysplasia (myositis) ossificans progressiva. In: Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, Eighth Edition. C. Rosen, Editor. ASBMR, Washington, DC. Chapter 98; pp. 815-821.

Culbert, A.L., S.A. Chakkalakal, M.R. Convente, V.Y. Lounev, F.S. Kaplan, and E.M. Shore (2013). Fibrodysplasia (Myositis) Ossificans Progressiva, Chapter 24; pp. 375-393. Genetics of Bone Biology and Skeletal Disease. R.V. Thakker, M.P. Whyte, J.A. Eisman, and T. Igarashi, Editors. Elsevier, New York.

Shore, E.M. (2012). Fibrodysplasia ossificans progressiva (FOP): A human genetic disorder of extra-skeletal bone formation, or - How does one tissue become another? WIREs Dev Biol 1, 153-165.

Shore, E.M. (2011). Commentary: Osteoinductive signals and heterotopic ossification. J. Bone Min. Res. 26, 1163-1165.

Kaplan, F.S. and E.M. Shore (2011). News & Views: Derailing heterotopic ossification and RARing to go. Nature Medicine 17, 420-421.

Shore, E.M. and F.S. Kaplan (2011). Extraskeletal Bone Formation. Pediatric Bone, Second Edition. F.H. Glorieux, J.M. Pettifor, H. Juppner, Editors, Academic Press. Chapter 30; pp.821-840.

Kaplan, F.S., P. Seemann, J. Haupt, M. Xu, V. Lounev, M. Mullins, and E.M. Shore (2010). Investigations of activated ACVR1/ALK2, a bone morphogenetic protein type I receptor, that causes fibrodysplasia ossificans progressiva. Methods in Enzymology 484, 357-373.

Shore, E.M. and R.J. Pignolo (2010) Circulating Osteoprogenitor Cells. Critical Reviews in Eukaryotic Gene Expression 20(2), 171-180.

Shore, E.M. and F.S. Kaplan (2010). Inherited Human Diseases of Heterotopic Ossification. Nature Reviews Rheumatology 6, 518-527.

Kaplan, F.S., Q. Shen, V. Lounev, P. Seemann, J. Groppe, T. Katagiri, R.J. Pignolo, E.M. Shore (2008). Molecular Mechanisms of Skeletal Metamorphosis in FOP. J. Bone Miner. Metab. 26(6), 521-530.

Shore E.M. and F. S. Kaplan (2005). FOP and POH: Two Genetic Disorders of Heterotopic Ossification. Clinical Reviews in Bone and Mineral Metabolism: 3: (3-4), 257-260.

Nelson, W. J., R. W. Hammerton, A. Z. Wang, and E. M. Shore (1990). Involvement of the membrane-cytoskeleton in development of epithelial cell polarity. Semin. Cell Biol. 1, 359-371.

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