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Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency.
Oheim R, Zimmerman K, Maulding ND, Stürznickel J, von Kroge S, Kavanagh D, Stabach PR, Kornak U, Tommasini SM, Horowitz MC, Amling M, Thompson D, Schinke T, Busse B, Carpenter TO, Braddock DT. Oheim R, et al. Among authors: tommasini sm. J Bone Miner Res. 2020 Mar;35(3):528-539. doi: 10.1002/jbmr.3911. Epub 2019 Dec 5. J Bone Miner Res. 2020. PMID: 31805212 Free PMC article.
Response of the ENPP1-Deficient Skeletal Phenotype to Oral Phosphate Supplementation and/or Enzyme Replacement Therapy: Comparative Studies in Humans and Mice.
Ferreira CR, Kavanagh D, Oheim R, Zimmerman K, Stürznickel J, Li X, Stabach P, Rettig RL, Calderone L, MacKichan C, Wang A, Hutchinson HA, Nelson T, Tommasini SM, von Kroge S, Fiedler IA, Lester ER, Moeckel GW, Busse B, Schinke T, Carpenter TO, Levine MA, Horowitz MC, Braddock DT. Ferreira CR, et al. Among authors: tommasini sm. J Bone Miner Res. 2021 May;36(5):942-955. doi: 10.1002/jbmr.4254. Epub 2021 Feb 18. J Bone Miner Res. 2021. PMID: 33465815 Free PMC article.
Deletion of Rac in Mature Osteoclasts Causes Osteopetrosis, an Age-Dependent Change in Osteoclast Number, and a Reduced Number of Osteoblasts In Vivo.
Zhu M, Sun BH, Saar K, Simpson C, Troiano N, Dallas SL, Tiede-Lewis LM, Nevius E, Pereira JP, Weinstein RS, Tommasini SM, Insogna KL. Zhu M, et al. Among authors: tommasini sm. J Bone Miner Res. 2016 Apr;31(4):864-73. doi: 10.1002/jbmr.2733. Epub 2015 Nov 18. J Bone Miner Res. 2016. PMID: 26496249 Free PMC article.
66 results