References

For the Website

Fretz JA, Troiano NW: Optimized Methyl methacrylate embedding of small and large undecalcified bones., MethodsX 13: 103046-56, 2024. https://doi.org/10.1016/j.mex.2024.103046.
Parfitt, A.M., Drezner, M.K., Glorieux, F.H., Kanis, J.A., Malluche, H., Meunier, P.J., Ott, S.M. & Recker, R.R. (1987). Bone histomorphometry: standardization of nomenclature, symbols, and units. Report of the ASBMR Histomorphometry Nomenclature Committee. J. Bone Miner. Res. 2, 595-610.

Our Work in Recent Publications

Deletion of the transcription factor EBF1 in perivascular stroma disrupts skeletal homeostasis and precipitates premature aging of the marrow microenvironment.Nelson TA, Tommasini S, Fretz JA. Bone. 2024 Oct; 2024 Jul 25. PMID: 39002837.
Bone marrow sinusoidal endothelial cells are a site of Fgf23 upregulation in a mouse model of iron deficiency anemia.Li X, Lozovatsky L, Tommasini SM, Fretz J, Finberg KE. Blood Adv. 2023 Sep 12. PMID: 37417950.
Concurrent targeting of glycolysis in bacteria and host cell inflammation in septic arthritis.Kwon HK, Yu KE, Cahill SV, Alder KD, Dussik CM, Kim SH, Sharma L, Back J, Oh I, Lee FY. EMBO Mol Med. 2022 Dec 7; 2022 Nov 10. PMID: 36354099.
Epidermal Growth Factor Receptor Inhibition Is Protective in Hyperoxia-Induced Lung Injury.Harris ZM, Sun Y, Joerns J, Clark B, Hu B, Korde A, Sharma L, Shin HJ, Manning EP, Placek L, Unutmaz D, Stanley G, Chun H, Sauler M, Rajagopalan G, Zhang X, Kang MJ, Koff JL. Oxid Med Cell Longev. 2022; 2022 Sep 20. PMID: 36193076.
Catalysis-Independent ENPP1 Protein Signaling Regulates Mammalian Bone Mass.Zimmerman K, Liu X, von Kroge S, Stabach P, Lester ER, Chu EY, Srivastava S, Somerman MJ, Tommasini SM, Busse B, Schinke T, Carpenter TO, Oheim R, Braddock DT. J Bone Miner Res. 2022 Sep; 2022 Jul 29. PMID: 35773783.
The Enthesopathy of XLH Is a Mechanical Adaptation to Osteomalacia: Biomechanical Evidence from Hyp Mice.Macica CM, Luo J, Tommasini SM. Calcif Tissue Int. 2022 Sep; 2022 May 26. PMID: 35618776.
Enhancement of Impaired MRSA-Infected Fracture Healing by Combinatorial Antibiotics and Modulation of Sustained Inflammation.Yu KE, Kwon HK, Dussik CM, Cahill SV, Back J, Alder KD, Lee FY. J Bone Miner Res. 2022 Jul; 2022 Jun 19. PMID: 35616626.
Treating 'Septic' With Enhanced Antibiotics and 'Arthritis' by Mitigation of Excessive Inflammation.Kwon HK, Dussik CM, Kim SH, Kyriakides TR, Oh I, Lee FY. Front Cell Infect Microbiol. 2022; 2022 Jun 9. PMID: 35755835.
Musculoskeletal Comorbidities and Quality of Life in ENPP1-Deficient Adults and the Response of Enthesopathy to Enzyme Replacement Therapy in Murine Models.Ferreira CR, Ansh AJ, Nester C, O'Brien C, Stabach PR, Murtada SI, Lester ER, Khursigara G, Molloy L, Carpenter TO, Braddock DT. J Bone Miner Res. 2022 Mar; 2021 Dec 26. PMID: 34882836.
Inflammatory conversion of quiescent osteoblasts by metastatic breast cancer cells through pERK1/2 aggravates cancer-induced bone destruction.Back J, Nguyen MN, Li L, Lee S, Lee I, Chen F, Gillinov L, Chung YH, Alder KD, Kwon HK, Yu KE, Dussik CM, Hao Z, Flores MJ, Kim Y, Ibe IK, Munger AM, Seo SW, Lee FY. Bone Res. 2021 Sep 29; 2021 Sep 29. PMID: 34588427.
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. J Bone Miner Res. 2021 May; 2021 Feb 18. PMID: 33465815.
Genetic pathways disrupted by ENPP1 deficiency provide insight into mechanisms of osteoporosis, osteomalacia, and paradoxical mineralization.Maulding ND, Kavanagh D, Zimmerman K, Coppola G, Carpenter TO, Jue NK, Braddock DT. Bone. 2021 Jan; 2020 Sep 24. PMID: 32980560.
Post-zygotic ACTB mutations underlie congenital smooth muscle hamartomas.Atzmony L, Ugwu N, Zaki TD, Antaya RJ, Choate KA. J Cutan Pathol. 2020 Aug; 2020 Apr 6. PMID: 32170967.
Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis.Boyden LM, Zhou J, Hu R, Zaki T, Loring E, Scott J, Traupe H, Paller AS, Lifton RP, Choate KA. Am J Hum Genet. 2020 Jul 2; 2020 Jun 8. PMID: 32516568.
IL-1β Drives Production of FGF-23 at the Onset of Chronic Kidney Disease in Mice.McKnight Q, Jenkins S, Li X, Nelson T, Marlier A, Cantley LG, Finberg KE, Fretz JA. J Bone Miner Res. 2020 Jul; 2020 May 27. PMID: 32154933.
"Small" Intestinal Immunopathology Plays a "Big" Role in Lethal Cytokine Release Syndrome, and Its Modulation by Interferon-γ, IL-17A, and a Janus Kinase Inhibitor.Kale SD, Mehrkens BN, Stegman MM, Kastelberg B, Carnes H, McNeill RJ, Rizzo A, Karyala SV, Coutermarsh-Ott S, Fretz JA, Sun Y, Koff JL, Rajagopalan G. Front Immunol. 2020; 2020 Jun 26. PMID: 32676080.
An osteocalcin-deficient mouse strain without endocrine abnormalities.Diegel CR, Hann S, Ayturk UM, Hu JCW, Lim KE, Droscha CJ, Madaj ZB, Foxa GE, Izaguirre I, Transgenics Core VVA, Paracha N, Pidhaynyy B, Dowd TL, Robling AG, Warman ML, Williams BO. PLoS Genet. 2020 May; 2020 May 28. PMID: 32463812.
Systemic Parathyroid Hormone Enhances Fracture Healing in Multiple Murine Models of Type 2 Diabetes Mellitus.Alder KD, White AH, Chung YH, Lee I, Back J, Kwon HK, Cahill SV, Hao Z, Li L, Chen F, Lee S, Riedel MD, Lee FY. JBMR Plus. 2020 May; 2020 Apr 2. PMID: 32382692.
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. J Bone Miner Res. 2020 Mar; 2019 Dec 5. PMID: 31805212.
Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia.Boyden LM, Atzmony L, Hamilton C, Zhou J, Lim YH, Hu R, Pappas J, Rabin R, Ekstien J, Hirsch Y, Prendiville J, Lifton RP, Ferguson S, Choate KA. Am J Hum Genet. 2019 Nov 7; 2019 Oct 17. PMID: 31630788.
Early B Cell Factor 1 (EBF1) Regulates Glomerular Development by Controlling Mesangial Maturation and Consequently COX-2 Expression.Nelson T, Velazquez H, Troiano N, Fretz JA. J Am Soc Nephrol. 2019 Sep; 2019 Aug 12. PMID: 31405952.
A cell-penetrating peptide blocks Toll-like receptor-mediated downstream signaling and ameliorates autoimmune and inflammatory diseases in mice.Kwon HK, Patra MC, Shin HJ, Gui X, Achek A, Panneerselvam S, Kim DJ, Song SJ, Hong R, Kim KS, Kim YG, Lee FY, Hahm DH, Lee SH, Choi S. Exp Mol Med. 2019 Apr 26; 2019 Apr 26. PMID: 31028244.
Mutations in PERP Cause Dominant and Recessive Keratoderma.Duchatelet S, Boyden LM, Ishida-Yamamoto A, Zhou J, Guibbal L, Hu R, Lim YH, Bole-Feysot C, Nitschké P, Santos-Simarro F, de Lucas R, Milstone LM, Gildenstern V, Helfrich YR, Attardi LD, Lifton RP, Choate KA, Hovnanian A. J Invest Dermatol. 2019 Feb; 2018 Oct 12. PMID: 30321533.