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Anti-ACVR1 antibodies exacerbate heterotopic ossification in fibrodysplasia ossificans progressiva (FOP) by activating FOP-mutant ACVR1.
Aykul S, Huang L, Wang L, Das NM, Reisman S, Ray Y, Zhang Q, Rothman N, Nannuru KC, Kamat V, Brydges S, Troncone L, Johnsen L, Yu PB, Fazio S, Lees-Shepard J, Schutz K, Murphy AJ, Economides AN, Idone V, Hatsell SJ. Aykul S, et al. Among authors: nannuru kc. J Clin Invest. 2022 Jun 15;132(12):e153792. doi: 10.1172/JCI153792. J Clin Invest. 2022. PMID: 35511419 Free PMC article.
The Expansion of Heterotopic Bone in Fibrodysplasia Ossificans Progressiva Is Activin A-Dependent.
Upadhyay J, Xie L, Huang L, Das N, Stewart RC, Lyon MC, Palmer K, Rajamani S, Graul C, Lobo M, Wellman TJ, Soares EJ, Silva MD, Hesterman J, Wang L, Wen X, Qian X, Nannuru K, Idone V, Murphy AJ, Economides AN, Hatsell SJ. Upadhyay J, et al. J Bone Miner Res. 2017 Dec;32(12):2489-2499. doi: 10.1002/jbmr.3235. Epub 2017 Sep 22. J Bone Miner Res. 2017. PMID: 28782882 Free article.
ACVR1R206H receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A.
Hatsell SJ, Idone V, Wolken DM, Huang L, Kim HJ, Wang L, Wen X, Nannuru KC, Jimenez J, Xie L, Das N, Makhoul G, Chernomorsky R, D'Ambrosio D, Corpina RA, Schoenherr CJ, Feeley K, Yu PB, Yancopoulos GD, Murphy AJ, Economides AN. Hatsell SJ, et al. Among authors: nannuru kc. Sci Transl Med. 2015 Sep 2;7(303):303ra137. doi: 10.1126/scitranslmed.aac4358. Sci Transl Med. 2015. PMID: 26333933 Free PMC article.
Activin A forms a non-signaling complex with ACVR1 and type II Activin/BMP receptors via its finger 2 tip loop.
Aykul S, Corpina RA, Goebel EJ, Cunanan CJ, Dimitriou A, Kim HJ, Zhang Q, Rafique A, Leidich R, Wang X, McClain J, Jimenez J, Nannuru KC, Rothman NJ, Lees-Shepard JB, Martinez-Hackert E, Murphy AJ, Thompson TB, Economides AN, Idone V. Aykul S, et al. Among authors: nannuru kc. Elife. 2020 Jun 9;9:e54582. doi: 10.7554/eLife.54582. Elife. 2020. PMID: 32515349 Free PMC article.
Activin A does not drive post-traumatic heterotopic ossification.
Hwang C, Pagani CA, Das N, Marini S, Huber AK, Xie L, Jimenez J, Brydges S, Lim WK, Nannuru KC, Murphy AJ, Economides AN, Hatsell SJ, Levi B. Hwang C, et al. Among authors: nannuru kc. Bone. 2020 Sep;138:115473. doi: 10.1016/j.bone.2020.115473. Epub 2020 Jun 15. Bone. 2020. PMID: 32553795
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.
Gonzaga-Jauregui C, Yesil G, Nistala H, Gezdirici A, Bayram Y, Nannuru KC, Pehlivan D, Yuan B, Jimenez J, Sahin Y, Paine IS, Akdemir ZC, Rajamani S, Staples J, Dronzek J, Howell K, Fatih JM, Smaldone S, Schlesinger AE, Ramírez N, Cornier AS, Kelly MA, Haber R, Chim SM, Nieman K, Wu N, Walls J; Baylor-Hopkins Center for Mendelian Genetics, Regeneron Genetics Center; Poueymirou W, Siao CJ, Sutton VR, Williams MS, Posey JE, Gibbs RA, Carlo S, Tegay DH, Economides AN, Lupski JR. Gonzaga-Jauregui C, et al. Among authors: nannuru kc. Eur J Hum Genet. 2020 Sep;28(9):1243-1264. doi: 10.1038/s41431-020-0632-x. Epub 2020 May 6. Eur J Hum Genet. 2020. PMID: 32376988 Free PMC article.
22 results