SEARCH

SEARCH BY CITATION

References

  • 1
    Hsu H, Lacey DL, Dunstan CR, et al. Tumor necrosis factor receptor family member RANK mediates osteoclast differentiation,activation induced by osteoprotegerin ligand. Proc Natl Acad Sci USA. 1999; 96:35605.
  • 2
    Dougall W, Glaccum M, Charrier K, et al. RANK is essential for osteoclast and lymph node development. Genes Dev. 1999; 13:241224.
  • 3
    Kong YY, Yoshida H, Sarosi I, et al. OPGL is a key regulator of osteoclastogenesis, lymphocyte development and lymph-node organogenesis. Nature. 1999; 397:31523.
  • 4
    Li J, Sarosi I, Yan XQ, et al. RANK is the intrinsic hematopoietic cell surface receptor that controls osteoclastogenesis,regulation of bone mass,calcium metabolism. Proc Natl Acad Sci USA. 2000; 97:156671.
  • 5
    Whyte MP. Mendelian disorders of RANKL/OPG/RANK signaling. In: Thakker RV, Whyte MP, Eisman J, Igarashi T, editors. Genetics of bone biology and skeletal disease. London: Elsevier; p. 30924. 2013.
  • 6
    Online Mendelian Inheritance in Man, OMIM® [Internet]. Baltimore: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University. 1995. [cited 2013 June 2]. Available at: http://omim.org/.
  • 7
    Hughes AE, Ralston SH, Marken J, et al. Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. Nat Genet. 2000; 24:458.
  • 8
    Whyte MP, Hughes AE. Expansile skeletal hyperphosphatasia is caused by a 15-base pair tandem duplication in TNFRSF11A encoding RANK and is allelic to familial expansile osteolysis. J Bone Miner Res. 2002; 17:269.
  • 9
    Nakatsuka K, Nishizawa Y, Ralston SH. Phenotypic characterization of early onset Paget's disease of bone caused by a 27-bp duplication in the TNFRSF11A gene. J Bone Miner Res. 2003; 18:13815.
  • 10
    Whyte MP, Obrecht SE, Finnegan PM, et al. Osteoprotegerin deficiency and juvenile Paget's disease. N Engl J Med. 2002; 347:17584.
  • 11
    Weinstein LS, Shenker A, Geiman PV, Merino MJ, Friedman E, Spiegel AM. Activating mutations of the stimulatory G protein in McCune-Albright Syndrome. N Engl J Med. 1991; 325:168895.
  • 12
    Sobacchi C, Frattini A, Guerrini MM, et al. Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. Nat Genet. 2007; 39:9602.
  • 13
    Rosenberg AE, Roth SI. Bone. In: Mills SE, editor. Histology for pathologists. 4th ed. Philadelphia: Lippincott Williams & Wilkins; p. 85106. 2012.
  • 14
    Lee SE, Lee EH, Park H, et al. The diagnostic utility of the GNAS mutation in patients with fibrous dysplasia: meta-analysis of 168 sporadic cases. Hum Pathol. 2012; 43:123442.
  • 15
    Likert R. A technique for the measurement of attitudes. Arch Psychol. 1932; 140:155.
  • 16
    Crockett JC, Mellis DJ, Shennan KIJ, et al. Signal peptide mutations in RANK prevent downstream activation of NF-κβ. J Bone Miner Res. 2011; 26:192638.
  • 17
    Crockett JC, Mellis DJ, Scott DI, Helfrich MH. New knowledge on critical osteoclast formation and activation pathways from study of rare genetic diseases of osteoclasts: focus on the RANK/RANKL axis. Osteoporos Int. 2011; 22:120.
  • 18
    Bacri D, Arush MW, Vlodavsky E, Kollander Y, Militianu D, Postovsky S. Osteogenic sarcoma in a child with familial expansile osteolysis syndrome: an accidental association? J Pediatr Hematol Oncol. 2010; 32:e503.
  • 19
    Sparks AB, Peterson SN, Bell C, et al. Mutation screening on the TNFRSF11A gene encoding receptor activator of NF kappa B (RANK) in familial and sporadic Paget's disease of bone and osteosarcoma. Calcif Tissue Int. 2001; 68:1515.
  • 20
    Robinson D, Einhorn TA. Giant cell tumor of bone: a unique paradigm of stromal-hematopoietic cellular interactions. J Cell Biochem. 1994; 55:3003.
  • 21
    Roux S, Amazit L, Meduri G, Guiochon-Mantel A, Milgrom E, Mariette X. RANK (receptor activator of nuclear factor kappa B) and RANK ligand are expressed in giant cell tumors of bone. Am J Clin Pathol. 2002; 117:2106.
  • 22
    Buckle CH, Neville-Webbe HL, Croucher PI, Lawson MA. Targeting RANK/RANKL in the treatment of solid tumours and myeloma. Curr Pharm Design. 2010; 16:127283.
  • 23
    Pearse RN, Sordillo EM, Yaccoby S, et al. Multiple myeloma disrupts the TRANCE/osteoprotegerin cytokine axis to trigger bone destruction,promote tumor progression. Proc Natl Acad Sci USA. 2001; 98:115816.
  • 24
    Weilbaecher KN, Guise TA, McCauley LK. Cancer to bone: a fatal attraction. Nat Rev Cancer. 2011; 11:41125.
  • 25
    Whyte MP, Reinus WR, Podgornik MN, Mills BG. Familial expansile osteolysis (excessive RANK effect) in a 5-generation American kindred. Medicine (Baltimore). 2002; 81:10121.
  • 26
    Demir E, Bereket A, Ozkan B, Topçu M. Effect of alendronate treatment on the clinical picture and bone turnover markers in chronic idiopathic hyperphosphatasia. J Pediatr Endocrinol Metab. 2000; 13:21721.
  • 27
    Riches PL, Imanishi Y, Nakatsuka K, Ralston SH. Clinical and biochemical response of TNFRSF11A-mediated early-onset familial Paget disease to bisphosphonate therapy. Calcif Tissue Int. 2008; 83:2725.
  • 28
    Polyzos SA, Anastasilakis AD, Litsas I, et al. Profound hypocalcemia following effective response to zoledronic acid treatment in a patient with juvenile Paget's disease. J Bone Miner Metab. 2010; 28:70612.