A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD-Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis

Autor: Gregson, Celia L., Bergen, Dylan J.M., Leo, Paul, Sessions, Richard B., Wheeler, Lawrie, Hartley, April, Youlten, Scott, Croucher, Peter I., McInerney-Leo, Aideen M., Fraser, William, Tang, Jonathan C.Y., Anderson, Lisa, Marshall, Mhairi, Sergot, Leon, Paternoster, Lavinia, Davey Smith, George, Brown, Matthew A., Hammond, Chrissy, Kemp, John P., Tobias, Jon H., Duncan, Emma L.

Publikováno v: Journal of Bone and Mineral Research
Gregson, C L, Bergen, D J M, Leo, P, Sessions, R B, Wheeler, L, Hartley, A, Youlten, S, Croucher, P I, McInerney-Leo, A M, Fraser, W, Tang, J C Y, Anderson, L, Marshall, M, Sergot, L, Paternoster, L, Davey Smith, G, Brown, M A, Hammond, C, Kemp, J P & Tobias, J H & Duncan, E L 2020, ' A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD-Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis ', Journal of Bone and Mineral Research, vol. 35, no. 1, pp. 92-105 . https://doi.org/10.1002/jbmr.3875

Novel anabolic drug targets are needed to treat osteoporosis. Having established a large national cohort with unexplained high bone mass (HBM), we aimed to identify a novel monogenic cause of HBM and provide insight into a regulatory pathway potentia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::89f34c77b5258f64602ac533931c180e
https://pubmed.ncbi.nlm.nih.gov/31525280

Identification of Cdca7 as a novel Notch transcriptional target involved in hematopoietic stem cell emergence

Autor: Guiu, Jordi, Bergen, Dylan J.M., De Pater, Emma, Islam, Abul B.M.M.K., Ayllón, Verónica, Gama-Norton, Leonor, Ruiz-Herguido, Cristina, González, Jessica, López-Bigas, Nuria, Menendez, Pablo, Dzierzak, Elaine, Espinosa, Lluis, Bigas, Anna

Publikováno v: The Journal of Experimental Medicine; November 2014, Vol. 211 Issue: 12 p2411-2423, 13p