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Ernestina Schipani, MD, PhD
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William Wikoff Smith Professor of Orthopaedic Surgery
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Department: Orthopaedic Surgery
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Contact information
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3450 Hamilton Walk
3a 310A Stemmler Hall
Philadelphia, PA 19104-6180
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3a 310A Stemmler Hall
Philadelphia, PA 19104-6180
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Office: 8578914945
32 Fax: 215-573-2133
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32 Fax: 215-573-2133
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Publications
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Links
67 Search PubMed for articles
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67 Search PubMed for articles
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Education:
21 7 MD c
66 Medical School of Pisa and Sant' Anna School of Advances Studies, Pisa, Italy, 1985.
21 f Speciality 1a (Endocrinology) c
50 Medical School of Pisa, University of Pisa, Pisa, Italy, 1988.
21 8 PhD c
4c Sant’Anna School of Advanced Studies, Pisa, Italy, 1989.
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Permanent link21 7 MD c
66 Medical School of Pisa and Sant' Anna School of Advances Studies, Pisa, Italy, 1985.
21 f Speciality 1a (Endocrinology) c
50 Medical School of Pisa, University of Pisa, Pisa, Italy, 1988.
21 8 PhD c
4c Sant’Anna School of Advanced Studies, Pisa, Italy, 1989.
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18e Early in my career, I cloned the human PTH/PTHrP receptor and its gene, uncovering that gain-of-function mutations in this receptor are responsible for Jansen Metaphyseal Chondrodysplasia—a severe form of short-limbed dwarfism associated with hypercalcemia. Using mouse models carrying these mutations, I contributed to defining the PTH/PTHrP receptor's critical role in skeletal biology.
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206 Subsequently, I pioneered the concept that oxygen gradients regulate tissue morphogenesis during skeletal development. Beyond serving as a key metabolic substrate in enzymatic reactions such as mitochondrial respiration, oxygen also functions as a regulatory signal. My laboratory investigates how hypoxia and hypoxia-driven pathways influence skeletal development, aiming to uncover novel mechanisms of cellular adaptation to low oxygen levels and identify therapeutic targets for cartilage and bone diseases.
c4 To achieve these goals, we employ genetically modified mouse models and a wide array of in vivo, ex vivo, and in vitro approaches to analyze phenotypes and elucidate the underlying biology.
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Description of Research Expertise
bc My laboratory focuses on skeletal development, leveraging insights from developmental biology to better understand skeletal diseases and identify potential new treatments.8
18e Early in my career, I cloned the human PTH/PTHrP receptor and its gene, uncovering that gain-of-function mutations in this receptor are responsible for Jansen Metaphyseal Chondrodysplasia—a severe form of short-limbed dwarfism associated with hypercalcemia. Using mouse models carrying these mutations, I contributed to defining the PTH/PTHrP receptor's critical role in skeletal biology.
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206 Subsequently, I pioneered the concept that oxygen gradients regulate tissue morphogenesis during skeletal development. Beyond serving as a key metabolic substrate in enzymatic reactions such as mitochondrial respiration, oxygen also functions as a regulatory signal. My laboratory investigates how hypoxia and hypoxia-driven pathways influence skeletal development, aiming to uncover novel mechanisms of cellular adaptation to low oxygen levels and identify therapeutic targets for cartilage and bone diseases.
c4 To achieve these goals, we employ genetically modified mouse models and a wide array of in vivo, ex vivo, and in vitro approaches to analyze phenotypes and elucidate the underlying biology.
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162 Lanzolla G, Sabini E, Beigel K, Khan MP, Sherry Liu X, Wang D, Laslow B, Taylor D, Bellido T, Giaccia A, Schipani E.: Pharmacological inhibition of HIF2 protects against bone loss in an experimental model of estrogen deficiency. Proc Natl Acad Sci U S A 121: e2416004121, Dec 2024.
13a Khan MP, Sabini E, Beigel K, Lanzolla G, Laslow B, Wang D, Merceron C, Giaccia A, Long F, Taylor D, Schipani E.: HIF1 activation safeguards cortical bone formation against impaired oxidative phosphorylation. JCI Insight 9: e182330, Aug 2024.
bf Sabini E, Schipani E.: The hypoxia signature across skeletal progenitor cells. J Bone Miner Res 39: 373-374, May 2024.
ee Lanzolla G, Merceron C, Khan MP, Sabini E, Giaccia A, Schipani E.: Osteoblastic erythropoietin is not required for bone mass accrual. JBMR Plus 8: ziae052, Apr 2024.
a1 Schipani E, Carmeliet G.: Cell metabolism and bone cells. Bone Rep 19: 101719, Sep 2023.
157 Reyes M, Firat D, Hanna P, Khan M, Bruce M, Shvedova M, Kobayashi T, Schipani E, Gardella TJ, Jüppner H.: Substantially Delayed Maturation of Growth Plate Chondrocytes in "Humanized" PTH1R Mice with the H223R Mutation of Jansen's Disease. JBMR Plus 7: e10802, Aug 2023.
156 Warren A, Porter RM, Reyes-Castro O, Ali MM, Marques-Carvalho A, Kim HN, Gatrell LB, Schipani E, Nookaew I, O'Brien CA, Morello R, Almeida M.: The NAD salvage pathway in mesenchymal cells is indispensable for skeletal development in mice. Nat Commun 14: 3616, Jun 2023.
c6 Sabini E, Arboit L, Khan MP, Lanzolla G, Schipani E.: Oxidative phosphorylation in bone cells. Bone Rep 18: 101688, May 2023.
142 Oranger A, Zerlotin R, Buccoliero C, Sanesi L, Storlino G, Schipani E, Kozloff KM, Mori G, Colaianni G, Colucci S, Grano M.: Irisin Modulates Inflammatory, Angiogenic, and Osteogenic Factors during Fracture Healing. Int J Mol Sci 24: 1809, Jan 2023.
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Selected Publications
1b9 Höppner J, Firat D, Parvez-Khan M, Reyes M, Hanna P, Yadav PS, Dean T, Ramos-Torres KM, Brugarolas P, Collins MT, Wein MN, Liu S, Gellman SH, Schipani E, Kronenberg HM, Gardella TJ, Jüppner H.: A mouse model of Jansen's metaphyseal chondrodysplasia for investigating disease mechanisms and candidate therapeutics. Proc Natl Acad Sci U S A 122: e2500176122, Jun 2025.162 Lanzolla G, Sabini E, Beigel K, Khan MP, Sherry Liu X, Wang D, Laslow B, Taylor D, Bellido T, Giaccia A, Schipani E.: Pharmacological inhibition of HIF2 protects against bone loss in an experimental model of estrogen deficiency. Proc Natl Acad Sci U S A 121: e2416004121, Dec 2024.
13a Khan MP, Sabini E, Beigel K, Lanzolla G, Laslow B, Wang D, Merceron C, Giaccia A, Long F, Taylor D, Schipani E.: HIF1 activation safeguards cortical bone formation against impaired oxidative phosphorylation. JCI Insight 9: e182330, Aug 2024.
bf Sabini E, Schipani E.: The hypoxia signature across skeletal progenitor cells. J Bone Miner Res 39: 373-374, May 2024.
ee Lanzolla G, Merceron C, Khan MP, Sabini E, Giaccia A, Schipani E.: Osteoblastic erythropoietin is not required for bone mass accrual. JBMR Plus 8: ziae052, Apr 2024.
a1 Schipani E, Carmeliet G.: Cell metabolism and bone cells. Bone Rep 19: 101719, Sep 2023.
157 Reyes M, Firat D, Hanna P, Khan M, Bruce M, Shvedova M, Kobayashi T, Schipani E, Gardella TJ, Jüppner H.: Substantially Delayed Maturation of Growth Plate Chondrocytes in "Humanized" PTH1R Mice with the H223R Mutation of Jansen's Disease. JBMR Plus 7: e10802, Aug 2023.
156 Warren A, Porter RM, Reyes-Castro O, Ali MM, Marques-Carvalho A, Kim HN, Gatrell LB, Schipani E, Nookaew I, O'Brien CA, Morello R, Almeida M.: The NAD salvage pathway in mesenchymal cells is indispensable for skeletal development in mice. Nat Commun 14: 3616, Jun 2023.
c6 Sabini E, Arboit L, Khan MP, Lanzolla G, Schipani E.: Oxidative phosphorylation in bone cells. Bone Rep 18: 101688, May 2023.
142 Oranger A, Zerlotin R, Buccoliero C, Sanesi L, Storlino G, Schipani E, Kozloff KM, Mori G, Colaianni G, Colucci S, Grano M.: Irisin Modulates Inflammatory, Angiogenic, and Osteogenic Factors during Fracture Healing. Int J Mol Sci 24: 1809, Jan 2023.
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