- Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. Hughes, A.E., Ralston, S.H., Marken, J., Bell, C., MacPherson, H., Wallace, R.G., van Hul, W., Whyte, M.P., Nakatsuka, K., Hovy, L., Anderson, D.M. Nat. Genet. (2000)