Shore Laboratory

Meiqi Xu

Research Specialist
University of Pennsylvania


Shanghai, P. R. China


B.S. Pharmaceutical Science, School of Pharmacy, Fudan University, Shanghai, P.R. China

Areas of Special Interest

My current research projects investigating genetic diseases of bone formation focus on identification of mutations in FOP and POH patients and determining the functional consequences of ACVR1 mutations in FOP variant patients, as well as new drugs or compounds screening for the disease.

Peer-Reviewed Publications

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 progressiva (ACVR1 c.772G>A; R258G): a report of two patients. Amer. J. Med. Genet. 167A, 2265-2271.

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

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.

Kaplan FS, Seemann P, Haupt J, Xu M, Lounev VY, Mullins M, Shore EM. Investigations of activated ACVR1/ALK2, a bone morphogenetic protein type I receptor, that causes fibrodysplasia ossificans progressiva. Methods Enzymol. 2010;484:357-73.

Shen Q, Little SC, Xu M, Haupt J, Ast C, Katagiri T, Mundlos S, Seemann P, Kaplan FS, Mullins MC, Shore EM. The fibrodysplasia ossificans progressiva R206H ACVR1 mutation activates BMP-independent chondrogenesis and zebrafish embryo ventralization. J Clin Invest. 2009 Oct 12.

Kaplan FS, Xu M, Seemann P, Connor JM, Glaser DL, Carroll L, Delai P, Fastnacht-Urban E, Forman SJ, Gillessen-Kaesbach G, Hoover-Fong J, Köster B, Pauli RM, Reardon W, Zaidi SA, Zasloff M, Morhart R, Mundlos S, Groppe J, Shore EM. Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.Hum Mutat. 2009 Mar;30(3):379-90.

Kaplan FS, Xu M, Feldman G, Brown M, Cho TJ, Choi IH, Connor JM, Delai PL, Economides AN, Glaser DL, Groppe J, Katagiri T, Le Merrer M, Morhart R, Ravazzolo R, Rogers JG, Smith R, Triffitt JT, Urtizberea JA, Zasloff M, Shore EM. Response to "Mutations of the NOGGIN and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP)" by Lucotte et al.Genet Couns. 2008;19(3):357-9.

Adegbite NS, Xu M, Kaplan FS, Shore EM, Pignolo RJ. Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification. Am J Med Genet A. 2008 Jul 15;146A(14):1788-96.

Kaplan FS, Xu M, Glaser DL, Collins F, Connor M, Kitterman J, Sillence D, Zackai E, Ravitsky V, Zasloff M, Ganguly A, Shore EM. Early Diagnosis of Fibrodysplasia Ossificans Progressiva. PEDIATRICS. 2008 May;121(5):e1295-300.

Kaplan FS, Glaser DL, Shore EM, Pignolo RJ, Xu M, Zhang Y, Senitzer D, Forman SJ and Emerson SG. Hematopoietic Stem-Cell Contribution to Ectopic Skeletogenesis. The Journal of Bone and Joint Surgery (American). 2007; 89:347-357.

Shore EM, Xu M, Feldman GJ, Fenstermacher DA, The FOP International Research Consortium, Brown, MA & Kaplan FS. A Recurrent Mutation in the BMP Type I Receptor ACVR1 Causes Inherited and Sporadic Fibrodyplasia Ossificans Progrssiva". Nature Genetics. 38(5): pp525-527, 2006.

Faust, RA, Shore, EM, Stevens, CE, Xu, M, Shah, S, Phillips, CD, Kaplan. FS. Progressive Osseous Heteroplasia In the Face of a Child. American Journal of Medical Genetics. 9999:1-5, 2003.

Shore EM, Ahn J, Jan de Beur S, Li M, Xu Meiqi, Gardner RJ, Zasloff MA, Whyte MP, Levine MA, Kaplan FS. Paternally Inherited Inactivating Mutations of the GNAS1 Gene in Progressive Osseous Heteroplasia. The New England Journal of Medicine. 346:99-106, 2002.

Xu M, Shore EM, Kaplan FS. Reported Noggin Mutations are PCR Errors. Am J Med Genet. 109(2):161, 2002.

Xu M, G Feldman, M Le Merrer, YY Shugart, DL Glaser, JA Urtizberea, M Fardeau, JM Connor, J Triffitt, R Smith, EM Shore and FS Kaplan. Linkage Exclusion and Mutational Analysis of the Noggin Gene in Patients with Fibrodysplasia Ossificans Progressiva (FOP). Clin Genet. 58(4):291-8, 2000.

E.M. Shore, Xu M, P. B. Shah, H. B. Janoff, G. V. Hahn, M. A. Deardorff, L. Sovinsky, N. B. Spinner, M. A. Zasloff, J. M. Wozney. The Human Bone Morphogenetic Protein 4 (BMP-4) Gene: Molecular Structure and Transcriptional Regulation. Calcif Tissue Int. 63(3):221-9, 1998.

Xu M, EM Shore. Mutational Screening of the Bone Morphogenetic Protein 4 Gene in a Family with Fibrodysplasia Ossificans Progressiva, Clin Orthop. (346):53-8, 1998.

EM Shore, M Li, G Calvert, Xu M, M Zasloff, FS Kaplan. Identification of Polymorphic Markers for the Human BMP-2 and BMP-4 Genes. Journal of Bone and Mineral Research. Ps309, 1997.

Lamb BT, Satyamoorthy K, Solter D, Basu A, Xu Meiqi, Weinmann R, Howe CC. A DNA Element Regulation Expression of an Endogenous Retrovirus During F9 Cell Differentiation is E1a-Dependent. Molecular Cell Biology. 12:4824, 1992.

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