基本信息
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个人简介
DESCRIPTION OF RESEARCH:
My longstanding interest is the genetic regulation of cell differentiation and tissue development, with specific focus on human genetic diseases of extra-skeletal bone formation (heterotopic ossification; HO), including fibrodysplasia ossificans progressiva (FOP), a disorder of ectopic endochondral ossification caused by activating mutations in the BMP receptor ACVR1/ALK2, and progressive osseous heteroplasia (POH) caused by inactivating mutations in GNAS. Having identified the genetic causes of FOP and POH, we continue to explore the cellular and molecular basis of the dysregulated stem cell fates, bone tissue formation, and effects on skeletal development. A major focus of my research program explores the cellular and molecular regulation of chondrogenesis and osteogenesis in heterotopic ossification and development and maintenance of skeletal bone. Our work develops, characterizes, and uses in vitro and in vivo models to understand the consequences of the mutations and to develop models for developing and testing therapeutic strategies.
My longstanding interest is the genetic regulation of cell differentiation and tissue development, with specific focus on human genetic diseases of extra-skeletal bone formation (heterotopic ossification; HO), including fibrodysplasia ossificans progressiva (FOP), a disorder of ectopic endochondral ossification caused by activating mutations in the BMP receptor ACVR1/ALK2, and progressive osseous heteroplasia (POH) caused by inactivating mutations in GNAS. Having identified the genetic causes of FOP and POH, we continue to explore the cellular and molecular basis of the dysregulated stem cell fates, bone tissue formation, and effects on skeletal development. A major focus of my research program explores the cellular and molecular regulation of chondrogenesis and osteogenesis in heterotopic ossification and development and maintenance of skeletal bone. Our work develops, characterizes, and uses in vitro and in vivo models to understand the consequences of the mutations and to develop models for developing and testing therapeutic strategies.
研究兴趣
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BIOMOLECULESno. 7 (2023): 1129-1129
Sreedhara Sangadala,Eileen M Shore,Meiqi Xu,Clemens Bergwitz, Santiago A Lozano-Calderon,Angela E Lin,Scott D Boden,Frederick S Kaplan
American journal of medical genetics. Part Ano. 8 (2023): 2164-2174
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Christina Mundy,Lutian Yao, Kelly A. Shaughnessy,Cheri Saunders,Eileen M. Shore,Eiki Koyama,Maurizio Pacifici
JBMR PLUSno. 12 (2023): n/a-n/a
Journal of Bone and Mineral Researchno. 9 (2023): 1364-1385
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