Neonatal High Bone Mass With First Mutation Of The NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65)

Autor: Frederiksen, Anja Lisbeth, Larsen, Martin Jakob, Brusgaard, Klaus, Norvack, Deborah V, Knudsen, Peter Juel Thiis, Schrøder, Henrik Daa, Qiu, Weimin, Eckhardt, Christina, McAlister, William H, Kassem, Moustapha, Mumm, Steven, Nielsen, Morten Frost Munk, Whyte, Michael P

Publikováno v: Frederiksen, A L, Larsen, M J, Brusgaard, K, Norvack, D V, Knudsen, P J T, Schrøder, H D, Qiu, W, Eckhardt, C, McAlister, W H, Kassem, M, Mumm, S, Nielsen, M F M & Whyte, M P 2016, ' Neonatal High Bone Mass With First Mutation Of The NF-κB Complex : Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65) ', Journal of Bone and Mineral Research, vol. 31, no. 1, pp. 163–172 . https://doi.org/10.1002/jbmr.2590

Heritable disorders that feature high bone mass (HBM) are rare. The etiology is typically a mutation(s) within a gene that regulates the differentiation and function of osteoblasts (OBs) or osteoclasts (OCs). Nevertheless, the molecular basis is unkn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::95de496eb3f9090ec8737b096507ba7e
https://europepmc.org/articles/PMC5310715/